Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.53723800C>ACA353237790CACNA1Dc.1961C>A (p.Thr654Asn)
c.1901C>A (p.Thr634Asn)
c.1201C>A
c.1973C>A (p.Thr658Asn)
c.1934C>A (p.Thr645Asn)
c.980C>A (p.Thr327Asn)
c.2072C>A (p.Thr691Asn)
c.2012C>A (p.Thr671Asn)
c.1535C>A (p.Thr512Asn)
c.1160C>A (p.Thr387Asn)
3g.53723800C>GCA353237792CACNA1Dc.1961C>G (p.Thr654Ser)
c.1901C>G (p.Thr634Ser)
c.1201C>G
c.1973C>G (p.Thr658Ser)
c.1934C>G (p.Thr645Ser)
c.980C>G (p.Thr327Ser)
c.2072C>G (p.Thr691Ser)
c.2012C>G (p.Thr671Ser)
c.1535C>G (p.Thr512Ser)
c.1160C>G (p.Thr387Ser)
3g.53723800C>TCA353237794CACNA1Dc.1961C>T (p.Thr654Ile)
c.1901C>T (p.Thr634Ile)
c.1201C>T
c.1973C>T (p.Thr658Ile)
c.1934C>T (p.Thr645Ile)
c.980C>T (p.Thr327Ile)
c.2072C>T (p.Thr691Ile)
c.2012C>T (p.Thr671Ile)
c.1535C>T (p.Thr512Ile)
c.1160C>T (p.Thr387Ile)
 gnomAD v4
3g.53723801T>ACA433895423CACNA1Dc.1962T>A (p.Thr654=)
c.1902T>A (p.Thr634=)
c.1202T>A
c.1974T>A (p.Thr658=)
c.1935T>A (p.Thr645=)
c.981T>A (p.Thr327=)
c.2073T>A (p.Thr691=)
c.2013T>A (p.Thr671=)
c.1536T>A (p.Thr512=)
c.1161T>A (p.Thr387=)
3g.53723801T>CCA433895424CACNA1Dc.1962T>C (p.Thr654=)
c.1902T>C (p.Thr634=)
c.1202T>C
c.1974T>C (p.Thr658=)
c.1935T>C (p.Thr645=)
c.981T>C (p.Thr327=)
c.2073T>C (p.Thr691=)
c.2013T>C (p.Thr671=)
c.1536T>C (p.Thr512=)
c.1161T>C (p.Thr387=)
3g.53723801T>GCA433895426CACNA1Dc.1962T>G (p.Thr654=)
c.1902T>G (p.Thr634=)
c.1202T>G
c.1974T>G (p.Thr658=)
c.1935T>G (p.Thr645=)
c.981T>G (p.Thr327=)
c.2073T>G (p.Thr691=)
c.2013T>G (p.Thr671=)
c.1536T>G (p.Thr512=)
c.1161T>G (p.Thr387=)
3g.53723802T>ACA353237797CACNA1Dc.1963T>A (p.Ser655Thr)
c.1903T>A (p.Ser635Thr)
c.1203T>A
c.1975T>A (p.Ser659Thr)
c.1936T>A (p.Ser646Thr)
c.982T>A (p.Ser328Thr)
c.2074T>A (p.Ser692Thr)
c.2014T>A (p.Ser672Thr)
c.1537T>A (p.Ser513Thr)
c.1162T>A (p.Ser388Thr)
3g.53723802T>CCA353237799CACNA1Dc.1963T>C (p.Ser655Pro)
c.1903T>C (p.Ser635Pro)
c.1203T>C
c.1975T>C (p.Ser659Pro)
c.1936T>C (p.Ser646Pro)
c.982T>C (p.Ser328Pro)
c.2074T>C (p.Ser692Pro)
c.2014T>C (p.Ser672Pro)
c.1537T>C (p.Ser513Pro)
c.1162T>C (p.Ser388Pro)
3g.53723802T>GCA353237802CACNA1Dc.1963T>G (p.Ser655Ala)
c.1903T>G (p.Ser635Ala)
c.1203T>G
c.1975T>G (p.Ser659Ala)
c.1936T>G (p.Ser646Ala)
c.982T>G (p.Ser328Ala)
c.2074T>G (p.Ser692Ala)
c.2014T>G (p.Ser672Ala)
c.1537T>G (p.Ser513Ala)
c.1162T>G (p.Ser388Ala)
3g.53723803C>ACA353237808CACNA1Dc.1964C>A (p.Ser655Tyr)
c.1904C>A (p.Ser635Tyr)
c.1204C>A
c.1976C>A (p.Ser659Tyr)
c.1937C>A (p.Ser646Tyr)
c.983C>A (p.Ser328Tyr)
c.2075C>A (p.Ser692Tyr)
c.2015C>A (p.Ser672Tyr)
c.1538C>A (p.Ser513Tyr)
c.1163C>A (p.Ser388Tyr)
3g.53723803C=CA1365449689CACNA1Dc.1964C= (p.Ser655=)
c.1904C= (p.Ser635=)
c.1204C=
c.1976C= (p.Ser659=)
c.1937C= (p.Ser646=)
c.983C= (p.Ser328=)
c.2075C= (p.Ser692=)
c.2015C= (p.Ser672=)
c.1538C= (p.Ser513=)
c.1163C= (p.Ser388=)
3g.53723803C>GCA353237806CACNA1Dc.1964C>G (p.Ser655Cys)
c.1904C>G (p.Ser635Cys)
c.1204C>G
c.1976C>G (p.Ser659Cys)
c.1937C>G (p.Ser646Cys)
c.983C>G (p.Ser328Cys)
c.2075C>G (p.Ser692Cys)
c.2015C>G (p.Ser672Cys)
c.1538C>G (p.Ser513Cys)
c.1163C>G (p.Ser388Cys)
 gnomAD v4
3g.53723803C>TCA74848420CACNA1Dc.1964C>T (p.Ser655Phe)
c.1904C>T (p.Ser635Phe)
c.1204C>T
c.1976C>T (p.Ser659Phe)
c.1937C>T (p.Ser646Phe)
c.983C>T (p.Ser328Phe)
c.2075C>T (p.Ser692Phe)
c.2015C>T (p.Ser672Phe)
c.1538C>T (p.Ser513Phe)
c.1163C>T (p.Ser388Phe)
 dbSNP
3g.53723804C>ACA433895429CACNA1Dc.1965C>A (p.Ser655=)
c.1905C>A (p.Ser635=)
c.1205C>A
c.1977C>A (p.Ser659=)
c.1938C>A (p.Ser646=)
c.984C>A (p.Ser328=)
c.2076C>A (p.Ser692=)
c.2016C>A (p.Ser672=)
c.1539C>A (p.Ser513=)
c.1164C>A (p.Ser388=)
3g.53723804C=CA1365449690CACNA1Dc.1965C= (p.Ser655=)
c.1905C= (p.Ser635=)
c.1205C=
c.1977C= (p.Ser659=)
c.1938C= (p.Ser646=)
c.984C= (p.Ser328=)
c.2076C= (p.Ser692=)
c.2016C= (p.Ser672=)
c.1539C= (p.Ser513=)
c.1164C= (p.Ser388=)
3g.53723804C>GCA2454097CACNA1Dc.1965C>G (p.Ser655=)
c.1905C>G (p.Ser635=)
c.1205C>G
c.1977C>G (p.Ser659=)
c.1938C>G (p.Ser646=)
c.984C>G (p.Ser328=)
c.2076C>G (p.Ser692=)
c.2016C>G (p.Ser672=)
c.1539C>G (p.Ser513=)
c.1164C>G (p.Ser388=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53723804C>TCA433895432CACNA1Dc.1965C>T (p.Ser655=)
c.1905C>T (p.Ser635=)
c.1205C>T
c.1977C>T (p.Ser659=)
c.1938C>T (p.Ser646=)
c.984C>T (p.Ser328=)
c.2076C>T (p.Ser692=)
c.2016C>T (p.Ser672=)
c.1539C>T (p.Ser513=)
c.1164C>T (p.Ser388=)
3g.53723805C>ACA353237812CACNA1Dc.1966C>A (p.Leu656Met)
c.1906C>A (p.Leu636Met)
c.1206C>A
c.1978C>A (p.Leu660Met)
c.1939C>A (p.Leu647Met)
c.985C>A (p.Leu329Met)
c.2077C>A (p.Leu693Met)
c.2017C>A (p.Leu673Met)
c.1540C>A (p.Leu514Met)
c.1165C>A (p.Leu389Met)
3g.53723805C>GCA353237815CACNA1Dc.1966C>G (p.Leu656Val)
c.1906C>G (p.Leu636Val)
c.1206C>G
c.1978C>G (p.Leu660Val)
c.1939C>G (p.Leu647Val)
c.985C>G (p.Leu329Val)
c.2077C>G (p.Leu693Val)
c.2017C>G (p.Leu673Val)
c.1540C>G (p.Leu514Val)
c.1165C>G (p.Leu389Val)
3g.53723805C>TCA433895438CACNA1Dc.1966C>T (p.Leu656=)
c.1906C>T (p.Leu636=)
c.1206C>T
c.1978C>T (p.Leu660=)
c.1939C>T (p.Leu647=)
c.985C>T (p.Leu329=)
c.2077C>T (p.Leu693=)
c.2017C>T (p.Leu673=)
c.1540C>T (p.Leu514=)
c.1165C>T (p.Leu389=)
3g.53723806T>ACA353237818CACNA1Dc.1967T>A (p.Leu656Gln)
c.1907T>A (p.Leu636Gln)
c.1207T>A
c.1979T>A (p.Leu660Gln)
c.1940T>A (p.Leu647Gln)
c.986T>A (p.Leu329Gln)
c.2078T>A (p.Leu693Gln)
c.2018T>A (p.Leu673Gln)
c.1541T>A (p.Leu514Gln)
c.1166T>A (p.Leu389Gln)
3g.53723806T>CCA353237820CACNA1Dc.1967T>C (p.Leu656Pro)
c.1907T>C (p.Leu636Pro)
c.1207T>C
c.1979T>C (p.Leu660Pro)
c.1940T>C (p.Leu647Pro)
c.986T>C (p.Leu329Pro)
c.2078T>C (p.Leu693Pro)
c.2018T>C (p.Leu673Pro)
c.1541T>C (p.Leu514Pro)
c.1166T>C (p.Leu389Pro)
3g.53723806T>GCA353237822CACNA1Dc.1967T>G (p.Leu656Arg)
c.1907T>G (p.Leu636Arg)
c.1207T>G
c.1979T>G (p.Leu660Arg)
c.1940T>G (p.Leu647Arg)
c.986T>G (p.Leu329Arg)
c.2078T>G (p.Leu693Arg)
c.2018T>G (p.Leu673Arg)
c.1541T>G (p.Leu514Arg)
c.1166T>G (p.Leu389Arg)
3g.53723807G>ACA433895440CACNA1Dc.1968G>A (p.Leu656=)
c.1908G>A (p.Leu636=)
c.1208G>A
c.1980G>A (p.Leu660=)
c.1941G>A (p.Leu647=)
c.987G>A (p.Leu329=)
c.2079G>A (p.Leu693=)
c.2019G>A (p.Leu673=)
c.1542G>A (p.Leu514=)
c.1167G>A (p.Leu389=)
3g.53723807G>CCA433895441CACNA1Dc.1968G>C (p.Leu656=)
c.1908G>C (p.Leu636=)
c.1208G>C
c.1980G>C (p.Leu660=)
c.1941G>C (p.Leu647=)
c.987G>C (p.Leu329=)
c.2079G>C (p.Leu693=)
c.2019G>C (p.Leu673=)
c.1542G>C (p.Leu514=)
c.1167G>C (p.Leu389=)
3g.53723807G>TCA433895443CACNA1Dc.1968G>T (p.Leu656=)
c.1908G>T (p.Leu636=)
c.1208G>T
c.1980G>T (p.Leu660=)
c.1941G>T (p.Leu647=)
c.987G>T (p.Leu329=)
c.2079G>T (p.Leu693=)
c.2019G>T (p.Leu673=)
c.1542G>T (p.Leu514=)
c.1167G>T (p.Leu389=)
3g.53723808A>CCA353237825CACNA1Dc.1969A>C (p.Ser657Arg)
c.1909A>C (p.Ser637Arg)
c.1209A>C
c.1981A>C (p.Ser661Arg)
c.1942A>C (p.Ser648Arg)
c.988A>C (p.Ser330Arg)
c.2080A>C (p.Ser694Arg)
c.2020A>C (p.Ser674Arg)
c.1543A>C (p.Ser515Arg)
c.1168A>C (p.Ser390Arg)
3g.53723808A>GCA353237826CACNA1Dc.1969A>G (p.Ser657Gly)
c.1909A>G (p.Ser637Gly)
c.1209A>G
c.1981A>G (p.Ser661Gly)
c.1942A>G (p.Ser648Gly)
c.988A>G (p.Ser330Gly)
c.2080A>G (p.Ser694Gly)
c.2020A>G (p.Ser674Gly)
c.1543A>G (p.Ser515Gly)
c.1168A>G (p.Ser390Gly)
3g.53723808A>TCA353237827CACNA1Dc.1969A>T (p.Ser657Cys)
c.1909A>T (p.Ser637Cys)
c.1209A>T
c.1981A>T (p.Ser661Cys)
c.1942A>T (p.Ser648Cys)
c.988A>T (p.Ser330Cys)
c.2080A>T (p.Ser694Cys)
c.2020A>T (p.Ser674Cys)
c.1543A>T (p.Ser515Cys)
c.1168A>T (p.Ser390Cys)
3g.53723809G>ACA353237829CACNA1Dc.1970G>A (p.Ser657Asn)
c.1910G>A (p.Ser637Asn)
c.1210G>A
c.1982G>A (p.Ser661Asn)
c.1943G>A (p.Ser648Asn)
c.989G>A (p.Ser330Asn)
c.2081G>A (p.Ser694Asn)
c.2021G>A (p.Ser674Asn)
c.1544G>A (p.Ser515Asn)
c.1169G>A (p.Ser390Asn)
3g.53723809G>CCA353237831CACNA1Dc.1970G>C (p.Ser657Thr)
c.1910G>C (p.Ser637Thr)
c.1210G>C
c.1982G>C (p.Ser661Thr)
c.1943G>C (p.Ser648Thr)
c.989G>C (p.Ser330Thr)
c.2081G>C (p.Ser694Thr)
c.2021G>C (p.Ser674Thr)
c.1544G>C (p.Ser515Thr)
c.1169G>C (p.Ser390Thr)
3g.53723809G>TCA353237833CACNA1Dc.1970G>T (p.Ser657Ile)
c.1910G>T (p.Ser637Ile)
c.1210G>T
c.1982G>T (p.Ser661Ile)
c.1943G>T (p.Ser648Ile)
c.989G>T (p.Ser330Ile)
c.2081G>T (p.Ser694Ile)
c.2021G>T (p.Ser674Ile)
c.1544G>T (p.Ser515Ile)
c.1169G>T (p.Ser390Ile)
3g.53723810C>ACA353237838CACNA1Dc.1971C>A (p.Ser657Arg)
c.1911C>A (p.Ser637Arg)
c.1211C>A
c.1983C>A (p.Ser661Arg)
c.1944C>A (p.Ser648Arg)
c.990C>A (p.Ser330Arg)
c.2082C>A (p.Ser694Arg)
c.2022C>A (p.Ser674Arg)
c.1545C>A (p.Ser515Arg)
c.1170C>A (p.Ser390Arg)
 gnomAD v4
3g.53723810C>GCA353237836CACNA1Dc.1971C>G (p.Ser657Arg)
c.1911C>G (p.Ser637Arg)
c.1211C>G
c.1983C>G (p.Ser661Arg)
c.1944C>G (p.Ser648Arg)
c.990C>G (p.Ser330Arg)
c.2082C>G (p.Ser694Arg)
c.2022C>G (p.Ser674Arg)
c.1545C>G (p.Ser515Arg)
c.1170C>G (p.Ser390Arg)
3g.53723810C>TCA433895446CACNA1Dc.1971C>T (p.Ser657=)
c.1911C>T (p.Ser637=)
c.1211C>T
c.1983C>T (p.Ser661=)
c.1944C>T (p.Ser648=)
c.990C>T (p.Ser330=)
c.2082C>T (p.Ser694=)
c.2022C>T (p.Ser674=)
c.1545C>T (p.Ser515=)
c.1170C>T (p.Ser390=)
3g.53723811A>CCA353237841CACNA1Dc.1972A>C (p.Asn658His)
c.1912A>C (p.Asn638His)
c.1212A>C
c.1984A>C (p.Asn662His)
c.1945A>C (p.Asn649His)
c.991A>C (p.Asn331His)
c.2083A>C (p.Asn695His)
c.2023A>C (p.Asn675His)
c.1546A>C (p.Asn516His)
c.1171A>C (p.Asn391His)
3g.53723811A>GCA353237842CACNA1Dc.1972A>G (p.Asn658Asp)
c.1912A>G (p.Asn638Asp)
c.1212A>G
c.1984A>G (p.Asn662Asp)
c.1945A>G (p.Asn649Asp)
c.991A>G (p.Asn331Asp)
c.2083A>G (p.Asn695Asp)
c.2023A>G (p.Asn675Asp)
c.1546A>G (p.Asn516Asp)
c.1171A>G (p.Asn391Asp)
 ClinVar gnomAD v4
3g.53723811A>TCA353237844CACNA1Dc.1972A>T (p.Asn658Tyr)
c.1912A>T (p.Asn638Tyr)
c.1212A>T
c.1984A>T (p.Asn662Tyr)
c.1945A>T (p.Asn649Tyr)
c.991A>T (p.Asn331Tyr)
c.2083A>T (p.Asn695Tyr)
c.2023A>T (p.Asn675Tyr)
c.1546A>T (p.Asn516Tyr)
c.1171A>T (p.Asn391Tyr)
3g.53723812A>CCA353237846CACNA1Dc.1973A>C (p.Asn658Thr)
c.1913A>C (p.Asn638Thr)
c.1213A>C
c.1985A>C (p.Asn662Thr)
c.1946A>C (p.Asn649Thr)
c.992A>C (p.Asn331Thr)
c.2084A>C (p.Asn695Thr)
c.2024A>C (p.Asn675Thr)
c.1547A>C (p.Asn516Thr)
c.1172A>C (p.Asn391Thr)
3g.53723812A>GCA353237848CACNA1Dc.1973A>G (p.Asn658Ser)
c.1913A>G (p.Asn638Ser)
c.1213A>G
c.1985A>G (p.Asn662Ser)
c.1946A>G (p.Asn649Ser)
c.992A>G (p.Asn331Ser)
c.2084A>G (p.Asn695Ser)
c.2024A>G (p.Asn675Ser)
c.1547A>G (p.Asn516Ser)
c.1172A>G (p.Asn391Ser)
3g.53723812A>TCA353237850CACNA1Dc.1973A>T (p.Asn658Ile)
c.1913A>T (p.Asn638Ile)
c.1213A>T
c.1985A>T (p.Asn662Ile)
c.1946A>T (p.Asn649Ile)
c.992A>T (p.Asn331Ile)
c.2084A>T (p.Asn695Ile)
c.2024A>T (p.Asn675Ile)
c.1547A>T (p.Asn516Ile)
c.1172A>T (p.Asn391Ile)
3g.53723813C>ACA353237857CACNA1Dc.1974C>A (p.Asn658Lys)
c.1914C>A (p.Asn638Lys)
c.1214C>A
c.1986C>A (p.Asn662Lys)
c.1947C>A (p.Asn649Lys)
c.993C>A (p.Asn331Lys)
c.2085C>A (p.Asn695Lys)
c.2025C>A (p.Asn675Lys)
c.1548C>A (p.Asn516Lys)
c.1173C>A (p.Asn391Lys)
3g.53723813C>GCA353237859CACNA1Dc.1974C>G (p.Asn658Lys)
c.1914C>G (p.Asn638Lys)
c.1214C>G
c.1986C>G (p.Asn662Lys)
c.1947C>G (p.Asn649Lys)
c.993C>G (p.Asn331Lys)
c.2085C>G (p.Asn695Lys)
c.2025C>G (p.Asn675Lys)
c.1548C>G (p.Asn516Lys)
c.1173C>G (p.Asn391Lys)
 gnomAD v4
3g.53723813C>TCA433895454CACNA1Dc.1974C>T (p.Asn658=)
c.1914C>T (p.Asn638=)
c.1214C>T
c.1986C>T (p.Asn662=)
c.1947C>T (p.Asn649=)
c.993C>T (p.Asn331=)
c.2085C>T (p.Asn695=)
c.2025C>T (p.Asn675=)
c.1548C>T (p.Asn516=)
c.1173C>T (p.Asn391=)
3g.53723814T>ACA353237862CACNA1Dc.1975T>A (p.Leu659Ile)
c.1915T>A (p.Leu639Ile)
c.1215T>A
c.1987T>A (p.Leu663Ile)
c.1948T>A (p.Leu650Ile)
c.994T>A (p.Leu332Ile)
c.2086T>A (p.Leu696Ile)
c.2026T>A (p.Leu676Ile)
c.1549T>A (p.Leu517Ile)
c.1174T>A (p.Leu392Ile)
3g.53723814T>CCA433895461CACNA1Dc.1975T>C (p.Leu659=)
c.1915T>C (p.Leu639=)
c.1215T>C
c.1987T>C (p.Leu663=)
c.1948T>C (p.Leu650=)
c.994T>C (p.Leu332=)
c.2086T>C (p.Leu696=)
c.2026T>C (p.Leu676=)
c.1549T>C (p.Leu517=)
c.1174T>C (p.Leu392=)
 gnomAD v4
3g.53723814T>GCA353237864CACNA1Dc.1975T>G (p.Leu659Val)
c.1915T>G (p.Leu639Val)
c.1215T>G
c.1987T>G (p.Leu663Val)
c.1948T>G (p.Leu650Val)
c.994T>G (p.Leu332Val)
c.2086T>G (p.Leu696Val)
c.2026T>G (p.Leu676Val)
c.1549T>G (p.Leu517Val)
c.1174T>G (p.Leu392Val)
3g.53723815T>ACA353237867CACNA1Dc.1976T>A (p.Leu659Ter)
c.1916T>A (p.Leu639Ter)
c.1216T>A
c.1988T>A (p.Leu663Ter)
c.1949T>A (p.Leu650Ter)
c.995T>A (p.Leu332Ter)
c.2087T>A (p.Leu696Ter)
c.2027T>A (p.Leu676Ter)
c.1550T>A (p.Leu517Ter)
c.1175T>A (p.Leu392Ter)
3g.53723815T>CCA353237868CACNA1Dc.1976T>C (p.Leu659Ser)
c.1916T>C (p.Leu639Ser)
c.1216T>C
c.1988T>C (p.Leu663Ser)
c.1949T>C (p.Leu650Ser)
c.995T>C (p.Leu332Ser)
c.2087T>C (p.Leu696Ser)
c.2027T>C (p.Leu676Ser)
c.1550T>C (p.Leu517Ser)
c.1175T>C (p.Leu392Ser)
3g.53723815T>GCA353237870CACNA1Dc.1976T>G (p.Leu659Ter)
c.1916T>G (p.Leu639Ter)
c.1216T>G
c.1988T>G (p.Leu663Ter)
c.1949T>G (p.Leu650Ter)
c.995T>G (p.Leu332Ter)
c.2087T>G (p.Leu696Ter)
c.2027T>G (p.Leu676Ter)
c.1550T>G (p.Leu517Ter)
c.1175T>G (p.Leu392Ter)
3g.53723816A>CCA353237872CACNA1Dc.1977A>C (p.Leu659Phe)
c.1917A>C (p.Leu639Phe)
c.1217A>C
c.1989A>C (p.Leu663Phe)
c.1950A>C (p.Leu650Phe)
c.996A>C (p.Leu332Phe)
c.2088A>C (p.Leu696Phe)
c.2028A>C (p.Leu676Phe)
c.1551A>C (p.Leu517Phe)
c.1176A>C (p.Leu392Phe)
3g.53723816A>GCA433895464CACNA1Dc.1977A>G (p.Leu659=)
c.1917A>G (p.Leu639=)
c.1217A>G
c.1989A>G (p.Leu663=)
c.1950A>G (p.Leu650=)
c.996A>G (p.Leu332=)
c.2088A>G (p.Leu696=)
c.2028A>G (p.Leu676=)
c.1551A>G (p.Leu517=)
c.1176A>G (p.Leu392=)
 gnomAD v4
3g.53723816A>TCA353237875CACNA1Dc.1977A>T (p.Leu659Phe)
c.1917A>T (p.Leu639Phe)
c.1217A>T
c.1989A>T (p.Leu663Phe)
c.1950A>T (p.Leu650Phe)
c.996A>T (p.Leu332Phe)
c.2088A>T (p.Leu696Phe)
c.2028A>T (p.Leu676Phe)
c.1551A>T (p.Leu517Phe)
c.1176A>T (p.Leu392Phe)
3g.53723817G>ACA353237878CACNA1Dc.1978G>A (p.Val660Met)
c.1918G>A (p.Val640Met)
c.1218G>A
c.1990G>A (p.Val664Met)
c.1951G>A (p.Val651Met)
c.997G>A (p.Val333Met)
c.2089G>A (p.Val697Met)
c.2029G>A (p.Val677Met)
c.1552G>A (p.Val518Met)
c.1177G>A (p.Val393Met)
3g.53723817G>CCA353237881CACNA1Dc.1978G>C (p.Val660Leu)
c.1918G>C (p.Val640Leu)
c.1218G>C
c.1990G>C (p.Val664Leu)
c.1951G>C (p.Val651Leu)
c.997G>C (p.Val333Leu)
c.2089G>C (p.Val697Leu)
c.2029G>C (p.Val677Leu)
c.1552G>C (p.Val518Leu)
c.1177G>C (p.Val393Leu)
3g.53723817G>TCA353237880CACNA1Dc.1978G>T (p.Val660Leu)
c.1918G>T (p.Val640Leu)
c.1218G>T
c.1990G>T (p.Val664Leu)
c.1951G>T (p.Val651Leu)
c.997G>T (p.Val333Leu)
c.2089G>T (p.Val697Leu)
c.2029G>T (p.Val677Leu)
c.1552G>T (p.Val518Leu)
c.1177G>T (p.Val393Leu)
3g.53723818T>ACA353237885CACNA1Dc.1979T>A (p.Val660Glu)
c.1919T>A (p.Val640Glu)
c.1219T>A
c.1991T>A (p.Val664Glu)
c.1952T>A (p.Val651Glu)
c.998T>A (p.Val333Glu)
c.2090T>A (p.Val697Glu)
c.2030T>A (p.Val677Glu)
c.1553T>A (p.Val518Glu)
c.1178T>A (p.Val393Glu)
3g.53723818T>CCA353237886CACNA1Dc.1979T>C (p.Val660Ala)
c.1919T>C (p.Val640Ala)
c.1219T>C
c.1991T>C (p.Val664Ala)
c.1952T>C (p.Val651Ala)
c.998T>C (p.Val333Ala)
c.2090T>C (p.Val697Ala)
c.2030T>C (p.Val677Ala)
c.1553T>C (p.Val518Ala)
c.1178T>C (p.Val393Ala)
3g.53723818T>GCA353237889CACNA1Dc.1979T>G (p.Val660Gly)
c.1919T>G (p.Val640Gly)
c.1219T>G
c.1991T>G (p.Val664Gly)
c.1952T>G (p.Val651Gly)
c.998T>G (p.Val333Gly)
c.2090T>G (p.Val697Gly)
c.2030T>G (p.Val677Gly)
c.1553T>G (p.Val518Gly)
c.1178T>G (p.Val393Gly)
3g.53723819G>ACA433895475CACNA1Dc.1980G>A (p.Val660=)
c.1920G>A (p.Val640=)
c.1220G>A
c.1992G>A (p.Val664=)
c.1953G>A (p.Val651=)
c.999G>A (p.Val333=)
c.2091G>A (p.Val697=)
c.2031G>A (p.Val677=)
c.1554G>A (p.Val518=)
c.1179G>A (p.Val393=)
3g.53723819G>CCA433895477CACNA1Dc.1980G>C (p.Val660=)
c.1920G>C (p.Val640=)
c.1220G>C
c.1992G>C (p.Val664=)
c.1953G>C (p.Val651=)
c.999G>C (p.Val333=)
c.2091G>C (p.Val697=)
c.2031G>C (p.Val677=)
c.1554G>C (p.Val518=)
c.1179G>C (p.Val393=)
3g.53723819G>TCA433895476CACNA1Dc.1980G>T (p.Val660=)
c.1920G>T (p.Val640=)
c.1220G>T
c.1992G>T (p.Val664=)
c.1953G>T (p.Val651=)
c.999G>T (p.Val333=)
c.2091G>T (p.Val697=)
c.2031G>T (p.Val677=)
c.1554G>T (p.Val518=)
c.1179G>T (p.Val393=)
3g.53723820G>ACA353237890CACNA1Dc.1981G>A (p.Ala661Thr)
c.1921G>A (p.Ala641Thr)
c.1221G>A
c.1993G>A (p.Ala665Thr)
c.1954G>A (p.Ala652Thr)
c.1000G>A (p.Ala334Thr)
c.2092G>A (p.Ala698Thr)
c.2032G>A (p.Ala678Thr)
c.1555G>A (p.Ala519Thr)
c.1180G>A (p.Ala394Thr)
 gnomAD v4
3g.53723820G>CCA353237892CACNA1Dc.1981G>C (p.Ala661Pro)
c.1921G>C (p.Ala641Pro)
c.1221G>C
c.1993G>C (p.Ala665Pro)
c.1954G>C (p.Ala652Pro)
c.1000G>C (p.Ala334Pro)
c.2092G>C (p.Ala698Pro)
c.2032G>C (p.Ala678Pro)
c.1555G>C (p.Ala519Pro)
c.1180G>C (p.Ala394Pro)
3g.53723820G>TCA353237894CACNA1Dc.1981G>T (p.Ala661Ser)
c.1921G>T (p.Ala641Ser)
c.1221G>T
c.1993G>T (p.Ala665Ser)
c.1954G>T (p.Ala652Ser)
c.1000G>T (p.Ala334Ser)
c.2092G>T (p.Ala698Ser)
c.2032G>T (p.Ala678Ser)
c.1555G>T (p.Ala519Ser)
c.1180G>T (p.Ala394Ser)
3g.53723821C>ACA353237897CACNA1Dc.1982C>A (p.Ala661Glu)
c.1922C>A (p.Ala641Glu)
c.1222C>A
c.1994C>A (p.Ala665Glu)
c.1955C>A (p.Ala652Glu)
c.1001C>A (p.Ala334Glu)
c.2093C>A (p.Ala698Glu)
c.2033C>A (p.Ala678Glu)
c.1556C>A (p.Ala519Glu)
c.1181C>A (p.Ala394Glu)
 gnomAD v4
3g.53723821C=CA1365449691CACNA1Dc.1982C= (p.Ala661=)
c.1922C= (p.Ala641=)
c.1222C=
c.1994C= (p.Ala665=)
c.1955C= (p.Ala652=)
c.1001C= (p.Ala334=)
c.2093C= (p.Ala698=)
c.2033C= (p.Ala678=)
c.1556C= (p.Ala519=)
c.1181C= (p.Ala394=)
3g.53723821C>GCA353237899CACNA1Dc.1982C>G (p.Ala661Gly)
c.1922C>G (p.Ala641Gly)
c.1222C>G
c.1994C>G (p.Ala665Gly)
c.1955C>G (p.Ala652Gly)
c.1001C>G (p.Ala334Gly)
c.2093C>G (p.Ala698Gly)
c.2033C>G (p.Ala678Gly)
c.1556C>G (p.Ala519Gly)
c.1181C>G (p.Ala394Gly)
3g.53723821C>TCA353237901CACNA1Dc.1982C>T (p.Ala661Val)
c.1922C>T (p.Ala641Val)
c.1222C>T
c.1994C>T (p.Ala665Val)
c.1955C>T (p.Ala652Val)
c.1001C>T (p.Ala334Val)
c.2093C>T (p.Ala698Val)
c.2033C>T (p.Ala678Val)
c.1556C>T (p.Ala519Val)
c.1181C>T (p.Ala394Val)
 dbSNP gnomAD v2 gnomAD v4
3g.53723822A>CCA433895486CACNA1Dc.1983A>C (p.Ala661=)
c.1923A>C (p.Ala641=)
c.1223A>C
c.1995A>C (p.Ala665=)
c.1956A>C (p.Ala652=)
c.1002A>C (p.Ala334=)
c.2094A>C (p.Ala698=)
c.2034A>C (p.Ala678=)
c.1557A>C (p.Ala519=)
c.1182A>C (p.Ala394=)
3g.53723822A>GCA433895487CACNA1Dc.1983A>G (p.Ala661=)
c.1923A>G (p.Ala641=)
c.1223A>G
c.1995A>G (p.Ala665=)
c.1956A>G (p.Ala652=)
c.1002A>G (p.Ala334=)
c.2094A>G (p.Ala698=)
c.2034A>G (p.Ala678=)
c.1557A>G (p.Ala519=)
c.1182A>G (p.Ala394=)
3g.53723822A>TCA433895488CACNA1Dc.1983A>T (p.Ala661=)
c.1923A>T (p.Ala641=)
c.1223A>T
c.1995A>T (p.Ala665=)
c.1956A>T (p.Ala652=)
c.1002A>T (p.Ala334=)
c.2094A>T (p.Ala698=)
c.2034A>T (p.Ala678=)
c.1557A>T (p.Ala519=)
c.1182A>T (p.Ala394=)
3g.53723823T>ACA353237904CACNA1Dc.1984T>A (p.Ser662Thr)
c.1924T>A (p.Ser642Thr)
c.1224T>A
c.1996T>A (p.Ser666Thr)
c.1957T>A (p.Ser653Thr)
c.1003T>A (p.Ser335Thr)
c.2095T>A (p.Ser699Thr)
c.2035T>A (p.Ser679Thr)
c.1558T>A (p.Ser520Thr)
c.1183T>A (p.Ser395Thr)
3g.53723823T>CCA353237906CACNA1Dc.1984T>C (p.Ser662Pro)
c.1924T>C (p.Ser642Pro)
c.1224T>C
c.1996T>C (p.Ser666Pro)
c.1957T>C (p.Ser653Pro)
c.1003T>C (p.Ser335Pro)
c.2095T>C (p.Ser699Pro)
c.2035T>C (p.Ser679Pro)
c.1558T>C (p.Ser520Pro)
c.1183T>C (p.Ser395Pro)
3g.53723823T>GCA353237908CACNA1Dc.1984T>G (p.Ser662Ala)
c.1924T>G (p.Ser642Ala)
c.1224T>G
c.1996T>G (p.Ser666Ala)
c.1957T>G (p.Ser653Ala)
c.1003T>G (p.Ser335Ala)
c.2095T>G (p.Ser699Ala)
c.2035T>G (p.Ser679Ala)
c.1558T>G (p.Ser520Ala)
c.1183T>G (p.Ser395Ala)
3g.53723824C>ACA353237915CACNA1Dc.1985C>A (p.Ser662Tyr)
c.1925C>A (p.Ser642Tyr)
c.1225C>A
c.1997C>A (p.Ser666Tyr)
c.1958C>A (p.Ser653Tyr)
c.1004C>A (p.Ser335Tyr)
c.2096C>A (p.Ser699Tyr)
c.2036C>A (p.Ser679Tyr)
c.1559C>A (p.Ser520Tyr)
c.1184C>A (p.Ser395Tyr)
3g.53723824C>GCA353237910CACNA1Dc.1985C>G (p.Ser662Cys)
c.1925C>G (p.Ser642Cys)
c.1225C>G
c.1997C>G (p.Ser666Cys)
c.1958C>G (p.Ser653Cys)
c.1004C>G (p.Ser335Cys)
c.2096C>G (p.Ser699Cys)
c.2036C>G (p.Ser679Cys)
c.1559C>G (p.Ser520Cys)
c.1184C>G (p.Ser395Cys)
3g.53723824C>TCA353237912CACNA1Dc.1985C>T (p.Ser662Phe)
c.1925C>T (p.Ser642Phe)
c.1225C>T
c.1997C>T (p.Ser666Phe)
c.1958C>T (p.Ser653Phe)
c.1004C>T (p.Ser335Phe)
c.2096C>T (p.Ser699Phe)
c.2036C>T (p.Ser679Phe)
c.1559C>T (p.Ser520Phe)
c.1184C>T (p.Ser395Phe)
3g.53723825C>ACA433895496CACNA1Dc.1986C>A (p.Ser662=)
c.1926C>A (p.Ser642=)
c.1226C>A
c.1998C>A (p.Ser666=)
c.1959C>A (p.Ser653=)
c.1005C>A (p.Ser335=)
c.2097C>A (p.Ser699=)
c.2037C>A (p.Ser679=)
c.1560C>A (p.Ser520=)
c.1185C>A (p.Ser395=)
3g.53723825C>GCA433895497CACNA1Dc.1986C>G (p.Ser662=)
c.1926C>G (p.Ser642=)
c.1226C>G
c.1998C>G (p.Ser666=)
c.1959C>G (p.Ser653=)
c.1005C>G (p.Ser335=)
c.2097C>G (p.Ser699=)
c.2037C>G (p.Ser679=)
c.1560C>G (p.Ser520=)
c.1185C>G (p.Ser395=)
3g.53723825C>TCA433895498CACNA1Dc.1986C>T (p.Ser662=)
c.1926C>T (p.Ser642=)
c.1226C>T
c.1998C>T (p.Ser666=)
c.1959C>T (p.Ser653=)
c.1005C>T (p.Ser335=)
c.2097C>T (p.Ser699=)
c.2037C>T (p.Ser679=)
c.1560C>T (p.Ser520=)
c.1185C>T (p.Ser395=)
3g.53723826T>ACA353237917CACNA1Dc.1987T>A (p.Leu663Ile)
c.1927T>A (p.Leu643Ile)
c.1227T>A
c.1999T>A (p.Leu667Ile)
c.1960T>A (p.Leu654Ile)
c.1006T>A (p.Leu336Ile)
c.2098T>A (p.Leu700Ile)
c.2038T>A (p.Leu680Ile)
c.1561T>A (p.Leu521Ile)
c.1186T>A (p.Leu396Ile)
3g.53723826T>CCA433895499CACNA1Dc.1987T>C (p.Leu663=)
c.1927T>C (p.Leu643=)
c.1227T>C
c.1999T>C (p.Leu667=)
c.1960T>C (p.Leu654=)
c.1006T>C (p.Leu336=)
c.2098T>C (p.Leu700=)
c.2038T>C (p.Leu680=)
c.1561T>C (p.Leu521=)
c.1186T>C (p.Leu396=)
3g.53723826T>GCA353237920CACNA1Dc.1987T>G (p.Leu663Val)
c.1927T>G (p.Leu643Val)
c.1227T>G
c.1999T>G (p.Leu667Val)
c.1960T>G (p.Leu654Val)
c.1006T>G (p.Leu336Val)
c.2098T>G (p.Leu700Val)
c.2038T>G (p.Leu680Val)
c.1561T>G (p.Leu521Val)
c.1186T>G (p.Leu396Val)
3g.53723827T>ACA353237923CACNA1Dc.1988T>A (p.Leu663Ter)
c.1928T>A (p.Leu643Ter)
c.1228T>A
c.2000T>A (p.Leu667Ter)
c.1961T>A (p.Leu654Ter)
c.1007T>A (p.Leu336Ter)
c.2099T>A (p.Leu700Ter)
c.2039T>A (p.Leu680Ter)
c.1562T>A (p.Leu521Ter)
c.1187T>A (p.Leu396Ter)
3g.53723827T>CCA353237925CACNA1Dc.1988T>C (p.Leu663Ser)
c.1928T>C (p.Leu643Ser)
c.1228T>C
c.2000T>C (p.Leu667Ser)
c.1961T>C (p.Leu654Ser)
c.1007T>C (p.Leu336Ser)
c.2099T>C (p.Leu700Ser)
c.2039T>C (p.Leu680Ser)
c.1562T>C (p.Leu521Ser)
c.1187T>C (p.Leu396Ser)
3g.53723827T>GCA353237927CACNA1Dc.1988T>G (p.Leu663Ter)
c.1928T>G (p.Leu643Ter)
c.1228T>G
c.2000T>G (p.Leu667Ter)
c.1961T>G (p.Leu654Ter)
c.1007T>G (p.Leu336Ter)
c.2099T>G (p.Leu700Ter)
c.2039T>G (p.Leu680Ter)
c.1562T>G (p.Leu521Ter)
c.1187T>G (p.Leu396Ter)
 dbSNP gnomAD v2 gnomAD v4
3g.53723827T=CA1365449692CACNA1Dc.1988T= (p.Leu663=)
c.1928T= (p.Leu643=)
c.1228T=
c.2000T= (p.Leu667=)
c.1961T= (p.Leu654=)
c.1007T= (p.Leu336=)
c.2099T= (p.Leu700=)
c.2039T= (p.Leu680=)
c.1562T= (p.Leu521=)
c.1187T= (p.Leu396=)
3g.53723828A=CA1365449693CACNA1Dc.1989A= (p.Leu663=)
c.1929A= (p.Leu643=)
c.1229A=
c.2001A= (p.Leu667=)
c.1962A= (p.Leu654=)
c.1008A= (p.Leu336=)
c.2100A= (p.Leu700=)
c.2040A= (p.Leu680=)
c.1563A= (p.Leu521=)
c.1188A= (p.Leu396=)
3g.53723828A>CCA353237930CACNA1Dc.1989A>C (p.Leu663Phe)
c.1929A>C (p.Leu643Phe)
c.1229A>C
c.2001A>C (p.Leu667Phe)
c.1962A>C (p.Leu654Phe)
c.1008A>C (p.Leu336Phe)
c.2100A>C (p.Leu700Phe)
c.2040A>C (p.Leu680Phe)
c.1563A>C (p.Leu521Phe)
c.1188A>C (p.Leu396Phe)
3g.53723828A>GCA433895508CACNA1Dc.1989A>G (p.Leu663=)
c.1929A>G (p.Leu643=)
c.1229A>G
c.2001A>G (p.Leu667=)
c.1962A>G (p.Leu654=)
c.1008A>G (p.Leu336=)
c.2100A>G (p.Leu700=)
c.2040A>G (p.Leu680=)
c.1563A>G (p.Leu521=)
c.1188A>G (p.Leu396=)
 dbSNP gnomAD v2 gnomAD v4
3g.53723828A>TCA353237931CACNA1Dc.1989A>T (p.Leu663Phe)
c.1929A>T (p.Leu643Phe)
c.1229A>T
c.2001A>T (p.Leu667Phe)
c.1962A>T (p.Leu654Phe)
c.1008A>T (p.Leu336Phe)
c.2100A>T (p.Leu700Phe)
c.2040A>T (p.Leu680Phe)
c.1563A>T (p.Leu521Phe)
c.1188A>T (p.Leu396Phe)
3g.53723829T>ACA353237932CACNA1Dc.1990T>A (p.Leu664Ile)
c.1930T>A (p.Leu644Ile)
c.1230T>A
c.2002T>A (p.Leu668Ile)
c.1963T>A (p.Leu655Ile)
c.1009T>A (p.Leu337Ile)
c.2101T>A (p.Leu701Ile)
c.2041T>A (p.Leu681Ile)
c.1564T>A (p.Leu522Ile)
c.1189T>A (p.Leu397Ile)
3g.53723829T>CCA433895509CACNA1Dc.1990T>C (p.Leu664=)
c.1930T>C (p.Leu644=)
c.1230T>C
c.2002T>C (p.Leu668=)
c.1963T>C (p.Leu655=)
c.1009T>C (p.Leu337=)
c.2101T>C (p.Leu701=)
c.2041T>C (p.Leu681=)
c.1564T>C (p.Leu522=)
c.1189T>C (p.Leu397=)
3g.53723829T>GCA353237933CACNA1Dc.1990T>G (p.Leu664Val)
c.1930T>G (p.Leu644Val)
c.1230T>G
c.2002T>G (p.Leu668Val)
c.1963T>G (p.Leu655Val)
c.1009T>G (p.Leu337Val)
c.2101T>G (p.Leu701Val)
c.2041T>G (p.Leu681Val)
c.1564T>G (p.Leu522Val)
c.1189T>G (p.Leu397Val)
3g.53723830T>ACA353237934CACNA1Dc.1991T>A (p.Leu664Ter)
c.1931T>A (p.Leu644Ter)
c.1231T>A
c.2003T>A (p.Leu668Ter)
c.1964T>A (p.Leu655Ter)
c.1010T>A (p.Leu337Ter)
c.2102T>A (p.Leu701Ter)
c.2042T>A (p.Leu681Ter)
c.1565T>A (p.Leu522Ter)
c.1190T>A (p.Leu397Ter)
3g.53723830T>CCA353237935CACNA1Dc.1991T>C (p.Leu664Ser)
c.1931T>C (p.Leu644Ser)
c.1231T>C
c.2003T>C (p.Leu668Ser)
c.1964T>C (p.Leu655Ser)
c.1010T>C (p.Leu337Ser)
c.2102T>C (p.Leu701Ser)
c.2042T>C (p.Leu681Ser)
c.1565T>C (p.Leu522Ser)
c.1190T>C (p.Leu397Ser)
3g.53723830T>GCA353237936CACNA1Dc.1991T>G (p.Leu664Ter)
c.1931T>G (p.Leu644Ter)
c.1231T>G
c.2003T>G (p.Leu668Ter)
c.1964T>G (p.Leu655Ter)
c.1010T>G (p.Leu337Ter)
c.2102T>G (p.Leu701Ter)
c.2042T>G (p.Leu681Ter)
c.1565T>G (p.Leu522Ter)
c.1190T>G (p.Leu397Ter)
3g.53723831A>CCA353237937CACNA1Dc.1992A>C (p.Leu664Phe)
c.1932A>C (p.Leu644Phe)
c.1232A>C
c.2004A>C (p.Leu668Phe)
c.1965A>C (p.Leu655Phe)
c.1011A>C (p.Leu337Phe)
c.2103A>C (p.Leu701Phe)
c.2043A>C (p.Leu681Phe)
c.1566A>C (p.Leu522Phe)
c.1191A>C (p.Leu397Phe)
3g.53723831A>GCA433895514CACNA1Dc.1992A>G (p.Leu664=)
c.1932A>G (p.Leu644=)
c.1232A>G
c.2004A>G (p.Leu668=)
c.1965A>G (p.Leu655=)
c.1011A>G (p.Leu337=)
c.2103A>G (p.Leu701=)
c.2043A>G (p.Leu681=)
c.1566A>G (p.Leu522=)
c.1191A>G (p.Leu397=)
3g.53723831A>TCA353237938CACNA1Dc.1992A>T (p.Leu664Phe)
c.1932A>T (p.Leu644Phe)
c.1232A>T
c.2004A>T (p.Leu668Phe)
c.1965A>T (p.Leu655Phe)
c.1011A>T (p.Leu337Phe)
c.2103A>T (p.Leu701Phe)
c.2043A>T (p.Leu681Phe)
c.1566A>T (p.Leu522Phe)
c.1191A>T (p.Leu397Phe)
3g.53723832A>CCA353237939CACNA1Dc.1993A>C (p.Asn665His)
c.1933A>C (p.Asn645His)
c.1233A>C
c.2005A>C (p.Asn669His)
c.1966A>C (p.Asn656His)
c.1012A>C (p.Asn338His)
c.2104A>C (p.Asn702His)
c.2044A>C (p.Asn682His)
c.1567A>C (p.Asn523His)
c.1192A>C (p.Asn398His)
3g.53723832A>GCA353237940CACNA1Dc.1993A>G (p.Asn665Asp)
c.1933A>G (p.Asn645Asp)
c.1233A>G
c.2005A>G (p.Asn669Asp)
c.1966A>G (p.Asn656Asp)
c.1012A>G (p.Asn338Asp)
c.2104A>G (p.Asn702Asp)
c.2044A>G (p.Asn682Asp)
c.1567A>G (p.Asn523Asp)
c.1192A>G (p.Asn398Asp)
3g.53723832A>TCA353237941CACNA1Dc.1993A>T (p.Asn665Tyr)
c.1933A>T (p.Asn645Tyr)
c.1233A>T
c.2005A>T (p.Asn669Tyr)
c.1966A>T (p.Asn656Tyr)
c.1012A>T (p.Asn338Tyr)
c.2104A>T (p.Asn702Tyr)
c.2044A>T (p.Asn682Tyr)
c.1567A>T (p.Asn523Tyr)
c.1192A>T (p.Asn398Tyr)
3g.53723833A>CCA353237942CACNA1Dc.1994A>C (p.Asn665Thr)
c.1934A>C (p.Asn645Thr)
c.1234A>C
c.2006A>C (p.Asn669Thr)
c.1967A>C (p.Asn656Thr)
c.1013A>C (p.Asn338Thr)
c.2105A>C (p.Asn702Thr)
c.2045A>C (p.Asn682Thr)
c.1568A>C (p.Asn523Thr)
c.1193A>C (p.Asn398Thr)
 COSMIC COSMIC
3g.53723833A>GCA353237943CACNA1Dc.1994A>G (p.Asn665Ser)
c.1934A>G (p.Asn645Ser)
c.1234A>G
c.2006A>G (p.Asn669Ser)
c.1967A>G (p.Asn656Ser)
c.1013A>G (p.Asn338Ser)
c.2105A>G (p.Asn702Ser)
c.2045A>G (p.Asn682Ser)
c.1568A>G (p.Asn523Ser)
c.1193A>G (p.Asn398Ser)
3g.53723833A>TCA353237944CACNA1Dc.1994A>T (p.Asn665Ile)
c.1934A>T (p.Asn645Ile)
c.1234A>T
c.2006A>T (p.Asn669Ile)
c.1967A>T (p.Asn656Ile)
c.1013A>T (p.Asn338Ile)
c.2105A>T (p.Asn702Ile)
c.2045A>T (p.Asn682Ile)
c.1568A>T (p.Asn523Ile)
c.1193A>T (p.Asn398Ile)
3g.53723834C>ACA353237945CACNA1Dc.1995C>A (p.Asn665Lys)
c.1935C>A (p.Asn645Lys)
c.1235C>A
c.2007C>A (p.Asn669Lys)
c.1968C>A (p.Asn656Lys)
c.1014C>A (p.Asn338Lys)
c.2106C>A (p.Asn702Lys)
c.2046C>A (p.Asn682Lys)
c.1569C>A (p.Asn523Lys)
c.1194C>A (p.Asn398Lys)
3g.53723834C=CA1365449694CACNA1Dc.1995C= (p.Asn665=)
c.1935C= (p.Asn645=)
c.1235C=
c.2007C= (p.Asn669=)
c.1968C= (p.Asn656=)
c.1014C= (p.Asn338=)
c.2106C= (p.Asn702=)
c.2046C= (p.Asn682=)
c.1569C= (p.Asn523=)
c.1194C= (p.Asn398=)
3g.53723834C>GCA353237946CACNA1Dc.1995C>G (p.Asn665Lys)
c.1935C>G (p.Asn645Lys)
c.1235C>G
c.2007C>G (p.Asn669Lys)
c.1968C>G (p.Asn656Lys)
c.1014C>G (p.Asn338Lys)
c.2106C>G (p.Asn702Lys)
c.2046C>G (p.Asn682Lys)
c.1569C>G (p.Asn523Lys)
c.1194C>G (p.Asn398Lys)
3g.53723834C>TCA74848430CACNA1Dc.1995C>T (p.Asn665=)
c.1935C>T (p.Asn645=)
c.1235C>T
c.2007C>T (p.Asn669=)
c.1968C>T (p.Asn656=)
c.1014C>T (p.Asn338=)
c.2106C>T (p.Asn702=)
c.2046C>T (p.Asn682=)
c.1569C>T (p.Asn523=)
c.1194C>T (p.Asn398=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53723835T>ACA353237947CACNA1Dc.1996T>A (p.Ser666Thr)
c.1936T>A (p.Ser646Thr)
c.1236T>A
c.2008T>A (p.Ser670Thr)
c.1969T>A (p.Ser657Thr)
c.1015T>A (p.Ser339Thr)
c.2107T>A (p.Ser703Thr)
c.2047T>A (p.Ser683Thr)
c.1570T>A (p.Ser524Thr)
c.1195T>A (p.Ser399Thr)
3g.53723835T>CCA353237948CACNA1Dc.1996T>C (p.Ser666Pro)
c.1936T>C (p.Ser646Pro)
c.1236T>C
c.2008T>C (p.Ser670Pro)
c.1969T>C (p.Ser657Pro)
c.1015T>C (p.Ser339Pro)
c.2107T>C (p.Ser703Pro)
c.2047T>C (p.Ser683Pro)
c.1570T>C (p.Ser524Pro)
c.1195T>C (p.Ser399Pro)
3g.53723835T>GCA353237949CACNA1Dc.1996T>G (p.Ser666Ala)
c.1936T>G (p.Ser646Ala)
c.1236T>G
c.2008T>G (p.Ser670Ala)
c.1969T>G (p.Ser657Ala)
c.1015T>G (p.Ser339Ala)
c.2107T>G (p.Ser703Ala)
c.2047T>G (p.Ser683Ala)
c.1570T>G (p.Ser524Ala)
c.1195T>G (p.Ser399Ala)
3g.53723836C>ACA353237952CACNA1Dc.1997C>A (p.Ser666Tyr)
c.1937C>A (p.Ser646Tyr)
c.1237C>A
c.2009C>A (p.Ser670Tyr)
c.1970C>A (p.Ser657Tyr)
c.1016C>A (p.Ser339Tyr)
c.2108C>A (p.Ser703Tyr)
c.2048C>A (p.Ser683Tyr)
c.1571C>A (p.Ser524Tyr)
c.1196C>A (p.Ser399Tyr)
3g.53723836C>GCA353237951CACNA1Dc.1997C>G (p.Ser666Cys)
c.1937C>G (p.Ser646Cys)
c.1237C>G
c.2009C>G (p.Ser670Cys)
c.1970C>G (p.Ser657Cys)
c.1016C>G (p.Ser339Cys)
c.2108C>G (p.Ser703Cys)
c.2048C>G (p.Ser683Cys)
c.1571C>G (p.Ser524Cys)
c.1196C>G (p.Ser399Cys)
 gnomAD v4
3g.53723836C>TCA353237950CACNA1Dc.1997C>T (p.Ser666Phe)
c.1937C>T (p.Ser646Phe)
c.1237C>T
c.2009C>T (p.Ser670Phe)
c.1970C>T (p.Ser657Phe)
c.1016C>T (p.Ser339Phe)
c.2108C>T (p.Ser703Phe)
c.2048C>T (p.Ser683Phe)
c.1571C>T (p.Ser524Phe)
c.1196C>T (p.Ser399Phe)
3g.53723837C>ACA433895525CACNA1Dc.1998C>A (p.Ser666=)
c.1938C>A (p.Ser646=)
c.1238C>A
c.2010C>A (p.Ser670=)
c.1971C>A (p.Ser657=)
c.1017C>A (p.Ser339=)
c.2109C>A (p.Ser703=)
c.2049C>A (p.Ser683=)
c.1572C>A (p.Ser524=)
c.1197C>A (p.Ser399=)
3g.53723837C=CA1365449695CACNA1Dc.1998C= (p.Ser666=)
c.1938C= (p.Ser646=)
c.1238C=
c.2010C= (p.Ser670=)
c.1971C= (p.Ser657=)
c.1017C= (p.Ser339=)
c.2109C= (p.Ser703=)
c.2049C= (p.Ser683=)
c.1572C= (p.Ser524=)
c.1197C= (p.Ser399=)
3g.53723837C>GCA433895527CACNA1Dc.1998C>G (p.Ser666=)
c.1938C>G (p.Ser646=)
c.1238C>G
c.2010C>G (p.Ser670=)
c.1971C>G (p.Ser657=)
c.1017C>G (p.Ser339=)
c.2109C>G (p.Ser703=)
c.2049C>G (p.Ser683=)
c.1572C>G (p.Ser524=)
c.1197C>G (p.Ser399=)
3g.53723837C>TCA433895528CACNA1Dc.1998C>T (p.Ser666=)
c.1938C>T (p.Ser646=)
c.1238C>T
c.2010C>T (p.Ser670=)
c.1971C>T (p.Ser657=)
c.1017C>T (p.Ser339=)
c.2109C>T (p.Ser703=)
c.2049C>T (p.Ser683=)
c.1572C>T (p.Ser524=)
c.1197C>T (p.Ser399=)
 dbSNP gnomAD v2 gnomAD v4
3g.53723838A=CA1365449696CACNA1Dc.1999A= (p.Met667=)
c.1939A= (p.Met647=)
c.1239A=
c.2011A= (p.Met671=)
c.1972A= (p.Met658=)
c.1018A= (p.Met340=)
c.2110A= (p.Met704=)
c.2050A= (p.Met684=)
c.1573A= (p.Met525=)
c.1198A= (p.Met400=)
3g.53723838A>CCA353237953CACNA1Dc.1999A>C (p.Met667Leu)
c.1939A>C (p.Met647Leu)
c.1239A>C
c.2011A>C (p.Met671Leu)
c.1972A>C (p.Met658Leu)
c.1018A>C (p.Met340Leu)
c.2110A>C (p.Met704Leu)
c.2050A>C (p.Met684Leu)
c.1573A>C (p.Met525Leu)
c.1198A>C (p.Met400Leu)
3g.53723838A>GCA353237954CACNA1Dc.1999A>G (p.Met667Val)
c.1939A>G (p.Met647Val)
c.1239A>G
c.2011A>G (p.Met671Val)
c.1972A>G (p.Met658Val)
c.1018A>G (p.Met340Val)
c.2110A>G (p.Met704Val)
c.2050A>G (p.Met684Val)
c.1573A>G (p.Met525Val)
c.1198A>G (p.Met400Val)
 dbSNP gnomAD v4
3g.53723838A>TCA2454098CACNA1Dc.1999A>T (p.Met667Leu)
c.1939A>T (p.Met647Leu)
c.1239A>T
c.2011A>T (p.Met671Leu)
c.1972A>T (p.Met658Leu)
c.1018A>T (p.Met340Leu)
c.2110A>T (p.Met704Leu)
c.2050A>T (p.Met684Leu)
c.1573A>T (p.Met525Leu)
c.1198A>T (p.Met400Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53723839T>ACA353237955CACNA1Dc.2000T>A (p.Met667Lys)
c.1940T>A (p.Met647Lys)
c.1240T>A
c.2012T>A (p.Met671Lys)
c.1973T>A (p.Met658Lys)
c.1019T>A (p.Met340Lys)
c.2111T>A (p.Met704Lys)
c.2051T>A (p.Met684Lys)
c.1574T>A (p.Met525Lys)
c.1199T>A (p.Met400Lys)
3g.53723839T>CCA353237956CACNA1Dc.2000T>C (p.Met667Thr)
c.1940T>C (p.Met647Thr)
c.1240T>C
c.2012T>C (p.Met671Thr)
c.1973T>C (p.Met658Thr)
c.1019T>C (p.Met340Thr)
c.2111T>C (p.Met704Thr)
c.2051T>C (p.Met684Thr)
c.1574T>C (p.Met525Thr)
c.1199T>C (p.Met400Thr)
 ClinVar
3g.53723839T>GCA353237957CACNA1Dc.2000T>G (p.Met667Arg)
c.1940T>G (p.Met647Arg)
c.1240T>G
c.2012T>G (p.Met671Arg)
c.1973T>G (p.Met658Arg)
c.1019T>G (p.Met340Arg)
c.2111T>G (p.Met704Arg)
c.2051T>G (p.Met684Arg)
c.1574T>G (p.Met525Arg)
c.1199T>G (p.Met400Arg)
3g.53723840G>ACA353237958CACNA1Dc.2001G>A (p.Met667Ile)
c.1941G>A (p.Met647Ile)
c.1241G>A
c.2013G>A (p.Met671Ile)
c.1974G>A (p.Met658Ile)
c.1020G>A (p.Met340Ile)
c.2112G>A (p.Met704Ile)
c.2052G>A (p.Met684Ile)
c.1575G>A (p.Met525Ile)
c.1200G>A (p.Met400Ile)
3g.53723840G>CCA353237959CACNA1Dc.2001G>C (p.Met667Ile)
c.1941G>C (p.Met647Ile)
c.1241G>C
c.2013G>C (p.Met671Ile)
c.1974G>C (p.Met658Ile)
c.1020G>C (p.Met340Ile)
c.2112G>C (p.Met704Ile)
c.2052G>C (p.Met684Ile)
c.1575G>C (p.Met525Ile)
c.1200G>C (p.Met400Ile)
3g.53723840G>TCA353237960CACNA1Dc.2001G>T (p.Met667Ile)
c.1941G>T (p.Met647Ile)
c.1241G>T
c.2013G>T (p.Met671Ile)
c.1974G>T (p.Met658Ile)
c.1020G>T (p.Met340Ile)
c.2112G>T (p.Met704Ile)
c.2052G>T (p.Met684Ile)
c.1575G>T (p.Met525Ile)
c.1200G>T (p.Met400Ile)
3g.53723841A>CCA353237961CACNA1Dc.2002A>C (p.Lys668Gln)
c.1942A>C (p.Lys648Gln)
c.1242A>C
c.2014A>C (p.Lys672Gln)
c.1975A>C (p.Lys659Gln)
c.1021A>C (p.Lys341Gln)
c.2113A>C (p.Lys705Gln)
c.2053A>C (p.Lys685Gln)
c.1576A>C (p.Lys526Gln)
c.1201A>C (p.Lys401Gln)
3g.53723841A>GCA353237962CACNA1Dc.2002A>G (p.Lys668Glu)
c.1942A>G (p.Lys648Glu)
c.1242A>G
c.2014A>G (p.Lys672Glu)
c.1975A>G (p.Lys659Glu)
c.1021A>G (p.Lys341Glu)
c.2113A>G (p.Lys705Glu)
c.2053A>G (p.Lys685Glu)
c.1576A>G (p.Lys526Glu)
c.1201A>G (p.Lys401Glu)
3g.53723841A>TCA353237963CACNA1Dc.2002A>T (p.Lys668Ter)
c.1942A>T (p.Lys648Ter)
c.1242A>T
c.2014A>T (p.Lys672Ter)
c.1975A>T (p.Lys659Ter)
c.1021A>T (p.Lys341Ter)
c.2113A>T (p.Lys705Ter)
c.2053A>T (p.Lys685Ter)
c.1576A>T (p.Lys526Ter)
c.1201A>T (p.Lys401Ter)
3g.53723842A=CA1365449697CACNA1Dc.2003A= (p.Lys668=)
c.1943A= (p.Lys648=)
c.1243A=
c.2015A= (p.Lys672=)
c.1976A= (p.Lys659=)
c.1022A= (p.Lys341=)
c.2114A= (p.Lys705=)
c.2054A= (p.Lys685=)
c.1577A= (p.Lys526=)
c.1202A= (p.Lys401=)
3g.53723842A>CCA353237965CACNA1Dc.2003A>C (p.Lys668Thr)
c.1943A>C (p.Lys648Thr)
c.1243A>C
c.2015A>C (p.Lys672Thr)
c.1976A>C (p.Lys659Thr)
c.1022A>C (p.Lys341Thr)
c.2114A>C (p.Lys705Thr)
c.2054A>C (p.Lys685Thr)
c.1577A>C (p.Lys526Thr)
c.1202A>C (p.Lys401Thr)
3g.53723842A>GCA2454099CACNA1Dc.2003A>G (p.Lys668Arg)
c.1943A>G (p.Lys648Arg)
c.1243A>G
c.2015A>G (p.Lys672Arg)
c.1976A>G (p.Lys659Arg)
c.1022A>G (p.Lys341Arg)
c.2114A>G (p.Lys705Arg)
c.2054A>G (p.Lys685Arg)
c.1577A>G (p.Lys526Arg)
c.1202A>G (p.Lys401Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53723842A>TCA353237964CACNA1Dc.2003A>T (p.Lys668Met)
c.1943A>T (p.Lys648Met)
c.1243A>T
c.2015A>T (p.Lys672Met)
c.1976A>T (p.Lys659Met)
c.1022A>T (p.Lys341Met)
c.2114A>T (p.Lys705Met)
c.2054A>T (p.Lys685Met)
c.1577A>T (p.Lys526Met)
c.1202A>T (p.Lys401Met)
3g.53723843G>ACA433895538CACNA1Dc.2004G>A (p.Lys668=)
c.1944G>A (p.Lys648=)
c.1244G>A
c.2016G>A (p.Lys672=)
c.1977G>A (p.Lys659=)
c.1023G>A (p.Lys341=)
c.2115G>A (p.Lys705=)
c.2055G>A (p.Lys685=)
c.1578G>A (p.Lys526=)
c.1203G>A (p.Lys401=)
 dbSNP gnomAD v2 gnomAD v4
3g.53723843G>CCA353237966CACNA1Dc.2004G>C (p.Lys668Asn)
c.1944G>C (p.Lys648Asn)
c.1244G>C
c.2016G>C (p.Lys672Asn)
c.1977G>C (p.Lys659Asn)
c.1023G>C (p.Lys341Asn)
c.2115G>C (p.Lys705Asn)
c.2055G>C (p.Lys685Asn)
c.1578G>C (p.Lys526Asn)
c.1203G>C (p.Lys401Asn)
3g.53723843G=CA1365449698CACNA1Dc.2004G= (p.Lys668=)
c.1944G= (p.Lys648=)
c.1244G=
c.2016G= (p.Lys672=)
c.1977G= (p.Lys659=)
c.1023G= (p.Lys341=)
c.2115G= (p.Lys705=)
c.2055G= (p.Lys685=)
c.1578G= (p.Lys526=)
c.1203G= (p.Lys401=)
3g.53723843G>TCA353237967CACNA1Dc.2004G>T (p.Lys668Asn)
c.1944G>T (p.Lys648Asn)
c.1244G>T
c.2016G>T (p.Lys672Asn)
c.1977G>T (p.Lys659Asn)
c.1023G>T (p.Lys341Asn)
c.2115G>T (p.Lys705Asn)
c.2055G>T (p.Lys685Asn)
c.1578G>T (p.Lys526Asn)
c.1203G>T (p.Lys401Asn)
3g.53723844T>ACA353237968CACNA1Dc.2005T>A (p.Ser669Thr)
c.1945T>A (p.Ser649Thr)
c.1245T>A
c.2017T>A (p.Ser673Thr)
c.1978T>A (p.Ser660Thr)
c.1024T>A (p.Ser342Thr)
c.2116T>A (p.Ser706Thr)
c.2056T>A (p.Ser686Thr)
c.1579T>A (p.Ser527Thr)
c.1204T>A (p.Ser402Thr)
3g.53723844T>CCA2454100CACNA1Dc.2005T>C (p.Ser669Pro)
c.1945T>C (p.Ser649Pro)
c.1245T>C
c.2017T>C (p.Ser673Pro)
c.1978T>C (p.Ser660Pro)
c.1024T>C (p.Ser342Pro)
c.2116T>C (p.Ser706Pro)
c.2056T>C (p.Ser686Pro)
c.1579T>C (p.Ser527Pro)
c.1204T>C (p.Ser402Pro)
 dbSNP ExAC gnomAD v2
3g.53723844T>GCA353237969CACNA1Dc.2005T>G (p.Ser669Ala)
c.1945T>G (p.Ser649Ala)
c.1245T>G
c.2017T>G (p.Ser673Ala)
c.1978T>G (p.Ser660Ala)
c.1024T>G (p.Ser342Ala)
c.2116T>G (p.Ser706Ala)
c.2056T>G (p.Ser686Ala)
c.1579T>G (p.Ser527Ala)
c.1204T>G (p.Ser402Ala)
3g.53723844T=CA1365449699CACNA1Dc.2005T= (p.Ser669=)
c.1945T= (p.Ser649=)
c.1245T=
c.2017T= (p.Ser673=)
c.1978T= (p.Ser660=)
c.1024T= (p.Ser342=)
c.2116T= (p.Ser706=)
c.2056T= (p.Ser686=)
c.1579T= (p.Ser527=)
c.1204T= (p.Ser402=)
3g.53723845C>ACA353237970CACNA1Dc.2006C>A (p.Ser669Tyr)
c.1946C>A (p.Ser649Tyr)
c.1246C>A
c.2018C>A (p.Ser673Tyr)
c.1979C>A (p.Ser660Tyr)
c.1025C>A (p.Ser342Tyr)
c.2117C>A (p.Ser706Tyr)
c.2057C>A (p.Ser686Tyr)
c.1580C>A (p.Ser527Tyr)
c.1205C>A (p.Ser402Tyr)
 gnomAD v4
3g.53723845C>GCA353237971CACNA1Dc.2006C>G (p.Ser669Cys)
c.1946C>G (p.Ser649Cys)
c.1246C>G
c.2018C>G (p.Ser673Cys)
c.1979C>G (p.Ser660Cys)
c.1025C>G (p.Ser342Cys)
c.2117C>G (p.Ser706Cys)
c.2057C>G (p.Ser686Cys)
c.1580C>G (p.Ser527Cys)
c.1205C>G (p.Ser402Cys)
3g.53723845C>TCA353237972CACNA1Dc.2006C>T (p.Ser669Phe)
c.1946C>T (p.Ser649Phe)
c.1246C>T
c.2018C>T (p.Ser673Phe)
c.1979C>T (p.Ser660Phe)
c.1025C>T (p.Ser342Phe)
c.2117C>T (p.Ser706Phe)
c.2057C>T (p.Ser686Phe)
c.1580C>T (p.Ser527Phe)
c.1205C>T (p.Ser402Phe)
 COSMIC COSMIC
3g.53723846C>ACA433895549CACNA1Dc.2007C>A (p.Ser669=)
c.1947C>A (p.Ser649=)
c.1247C>A
c.2019C>A (p.Ser673=)
c.1980C>A (p.Ser660=)
c.1026C>A (p.Ser342=)
c.2118C>A (p.Ser706=)
c.2058C>A (p.Ser686=)
c.1581C>A (p.Ser527=)
c.1206C>A (p.Ser402=)
3g.53723846C=CA1365449700CACNA1Dc.2007C= (p.Ser669=)
c.1947C= (p.Ser649=)
c.1247C=
c.2019C= (p.Ser673=)
c.1980C= (p.Ser660=)
c.1026C= (p.Ser342=)
c.2118C= (p.Ser706=)
c.2058C= (p.Ser686=)
c.1581C= (p.Ser527=)
c.1206C= (p.Ser402=)
3g.53723846C>GCA433895551CACNA1Dc.2007C>G (p.Ser669=)
c.1947C>G (p.Ser649=)
c.1247C>G
c.2019C>G (p.Ser673=)
c.1980C>G (p.Ser660=)
c.1026C>G (p.Ser342=)
c.2118C>G (p.Ser706=)
c.2058C>G (p.Ser686=)
c.1581C>G (p.Ser527=)
c.1206C>G (p.Ser402=)
 gnomAD v4
3g.53723846C>TCA433895552CACNA1Dc.2007C>T (p.Ser669=)
c.1947C>T (p.Ser649=)
c.1247C>T
c.2019C>T (p.Ser673=)
c.1980C>T (p.Ser660=)
c.1026C>T (p.Ser342=)
c.2118C>T (p.Ser706=)
c.2058C>T (p.Ser686=)
c.1581C>T (p.Ser527=)
c.1206C>T (p.Ser402=)
 dbSNP gnomAD v2 gnomAD v4
3g.53723847A>CCA353237973CACNA1Dc.2008A>C (p.Ile670Leu)
c.1948A>C (p.Ile650Leu)
c.1248A>C
c.2020A>C (p.Ile674Leu)
c.1981A>C (p.Ile661Leu)
c.1027A>C (p.Ile343Leu)
c.2119A>C (p.Ile707Leu)
c.2059A>C (p.Ile687Leu)
c.1582A>C (p.Ile528Leu)
c.1207A>C (p.Ile403Leu)
3g.53723847A>GCA353237974CACNA1Dc.2008A>G (p.Ile670Val)
c.1948A>G (p.Ile650Val)
c.1248A>G
c.2020A>G (p.Ile674Val)
c.1981A>G (p.Ile661Val)
c.1027A>G (p.Ile343Val)
c.2119A>G (p.Ile707Val)
c.2059A>G (p.Ile687Val)
c.1582A>G (p.Ile528Val)
c.1207A>G (p.Ile403Val)
3g.53723847A>TCA353237975CACNA1Dc.2008A>T (p.Ile670Phe)
c.1948A>T (p.Ile650Phe)
c.1248A>T
c.2020A>T (p.Ile674Phe)
c.1981A>T (p.Ile661Phe)
c.1027A>T (p.Ile343Phe)
c.2119A>T (p.Ile707Phe)
c.2059A>T (p.Ile687Phe)
c.1582A>T (p.Ile528Phe)
c.1207A>T (p.Ile403Phe)
 gnomAD v4
3g.53723848T>ACA353237976CACNA1Dc.2009T>A (p.Ile670Asn)
c.1949T>A (p.Ile650Asn)
c.1249T>A
c.2021T>A (p.Ile674Asn)
c.1982T>A (p.Ile661Asn)
c.1028T>A (p.Ile343Asn)
c.2120T>A (p.Ile707Asn)
c.2060T>A (p.Ile687Asn)
c.1583T>A (p.Ile528Asn)
c.1208T>A (p.Ile403Asn)
3g.53723848T>CCA353237977CACNA1Dc.2009T>C (p.Ile670Thr)
c.1949T>C (p.Ile650Thr)
c.1249T>C
c.2021T>C (p.Ile674Thr)
c.1982T>C (p.Ile661Thr)
c.1028T>C (p.Ile343Thr)
c.2120T>C (p.Ile707Thr)
c.2060T>C (p.Ile687Thr)
c.1583T>C (p.Ile528Thr)
c.1208T>C (p.Ile403Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.53723848T>GCA353237978CACNA1Dc.2009T>G (p.Ile670Ser)
c.1949T>G (p.Ile650Ser)
c.1249T>G
c.2021T>G (p.Ile674Ser)
c.1982T>G (p.Ile661Ser)
c.1028T>G (p.Ile343Ser)
c.2120T>G (p.Ile707Ser)
c.2060T>G (p.Ile687Ser)
c.1583T>G (p.Ile528Ser)
c.1208T>G (p.Ile403Ser)
3g.53723848T=CA1365449701CACNA1Dc.2009T= (p.Ile670=)
c.1949T= (p.Ile650=)
c.1249T=
c.2021T= (p.Ile674=)
c.1982T= (p.Ile661=)
c.1028T= (p.Ile343=)
c.2120T= (p.Ile707=)
c.2060T= (p.Ile687=)
c.1583T= (p.Ile528=)
c.1208T= (p.Ile403=)
3g.53723849C>ACA433895558CACNA1Dc.2010C>A (p.Ile670=)
c.1950C>A (p.Ile650=)
c.1250C>A
c.2022C>A (p.Ile674=)
c.1983C>A (p.Ile661=)
c.1029C>A (p.Ile343=)
c.2121C>A (p.Ile707=)
c.2061C>A (p.Ile687=)
c.1584C>A (p.Ile528=)
c.1209C>A (p.Ile403=)
3g.53723849C=CA1365449702CACNA1Dc.2010C= (p.Ile670=)
c.1950C= (p.Ile650=)
c.1250C=
c.2022C= (p.Ile674=)
c.1983C= (p.Ile661=)
c.1029C= (p.Ile343=)
c.2121C= (p.Ile707=)
c.2061C= (p.Ile687=)
c.1584C= (p.Ile528=)
c.1209C= (p.Ile403=)
3g.53723849C>GCA353237979CACNA1Dc.2010C>G (p.Ile670Met)
c.1950C>G (p.Ile650Met)
c.1250C>G
c.2022C>G (p.Ile674Met)
c.1983C>G (p.Ile661Met)
c.1029C>G (p.Ile343Met)
c.2121C>G (p.Ile707Met)
c.2061C>G (p.Ile687Met)
c.1584C>G (p.Ile528Met)
c.1209C>G (p.Ile403Met)
3g.53723849C>TCA2454101CACNA1Dc.2010C>T (p.Ile670=)
c.1950C>T (p.Ile650=)
c.1250C>T
c.2022C>T (p.Ile674=)
c.1983C>T (p.Ile661=)
c.1029C>T (p.Ile343=)
c.2121C>T (p.Ile707=)
c.2061C>T (p.Ile687=)
c.1584C>T (p.Ile528=)
c.1209C>T (p.Ile403=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53723850delCA2666129556CACNA1Dc.2011del (p.Ala671LeufsTer?)
c.1951del (p.Ala651LeufsTer?)
c.1251del
c.2023del (p.Ala675LeufsTer?)
c.1984del (p.Ala662LeufsTer?)
c.1030del (p.Ala344LeufsTer?)
c.2122del (p.Ala708LeufsTer?)
c.2062del (p.Ala688LeufsTer?)
c.1585del (p.Ala529LeufsTer?)
c.1210del (p.Ala404LeufsTer?)
 gnomAD v4
3g.53723850G>ACA353237982CACNA1Dc.2011G>A (p.Ala671Thr)
c.1951G>A (p.Ala651Thr)
c.1251G>A
c.2023G>A (p.Ala675Thr)
c.1984G>A (p.Ala662Thr)
c.1030G>A (p.Ala344Thr)
c.2122G>A (p.Ala708Thr)
c.2062G>A (p.Ala688Thr)
c.1585G>A (p.Ala529Thr)
c.1210G>A (p.Ala404Thr)
 dbSNP gnomAD v4 COSMIC
3g.53723850G>CCA353237980CACNA1Dc.2011G>C (p.Ala671Pro)
c.1951G>C (p.Ala651Pro)
c.1251G>C
c.2023G>C (p.Ala675Pro)
c.1984G>C (p.Ala662Pro)
c.1030G>C (p.Ala344Pro)
c.2122G>C (p.Ala708Pro)
c.2062G>C (p.Ala688Pro)
c.1585G>C (p.Ala529Pro)
c.1210G>C (p.Ala404Pro)
 gnomAD v4
3g.53723850G=CA1365449703CACNA1Dc.2011G= (p.Ala671=)
c.1951G= (p.Ala651=)
c.1251G=
c.2023G= (p.Ala675=)
c.1984G= (p.Ala662=)
c.1030G= (p.Ala344=)
c.2122G= (p.Ala708=)
c.2062G= (p.Ala688=)
c.1585G= (p.Ala529=)
c.1210G= (p.Ala404=)
3g.53723850G>TCA353237981CACNA1Dc.2011G>T (p.Ala671Ser)
c.1951G>T (p.Ala651Ser)
c.1251G>T
c.2023G>T (p.Ala675Ser)
c.1984G>T (p.Ala662Ser)
c.1030G>T (p.Ala344Ser)
c.2122G>T (p.Ala708Ser)
c.2062G>T (p.Ala688Ser)
c.1585G>T (p.Ala529Ser)
c.1210G>T (p.Ala404Ser)
3g.53723851C>ACA353237983CACNA1Dc.2012C>A (p.Ala671Asp)
c.1952C>A (p.Ala651Asp)
c.1252C>A
c.2024C>A (p.Ala675Asp)
c.1985C>A (p.Ala662Asp)
c.1031C>A (p.Ala344Asp)
c.2123C>A (p.Ala708Asp)
c.2063C>A (p.Ala688Asp)
c.1586C>A (p.Ala529Asp)
c.1211C>A (p.Ala404Asp)
3g.53723851C>GCA353237984CACNA1Dc.2012C>G (p.Ala671Gly)
c.1952C>G (p.Ala651Gly)
c.1252C>G
c.2024C>G (p.Ala675Gly)
c.1985C>G (p.Ala662Gly)
c.1031C>G (p.Ala344Gly)
c.2123C>G (p.Ala708Gly)
c.2063C>G (p.Ala688Gly)
c.1586C>G (p.Ala529Gly)
c.1211C>G (p.Ala404Gly)
3g.53723851C>TCA353237985CACNA1Dc.2012C>T (p.Ala671Val)
c.1952C>T (p.Ala651Val)
c.1252C>T
c.2024C>T (p.Ala675Val)
c.1985C>T (p.Ala662Val)
c.1031C>T (p.Ala344Val)
c.2123C>T (p.Ala708Val)
c.2063C>T (p.Ala688Val)
c.1586C>T (p.Ala529Val)
c.1211C>T (p.Ala404Val)
3g.53723852T>ACA433895564CACNA1Dc.2013T>A (p.Ala671=)
c.1953T>A (p.Ala651=)
c.1253T>A
c.2025T>A (p.Ala675=)
c.1986T>A (p.Ala662=)
c.1032T>A (p.Ala344=)
c.2124T>A (p.Ala708=)
c.2064T>A (p.Ala688=)
c.1587T>A (p.Ala529=)
c.1212T>A (p.Ala404=)
3g.53723852T>CCA433895565CACNA1Dc.2013T>C (p.Ala671=)
c.1953T>C (p.Ala651=)
c.1253T>C
c.2025T>C (p.Ala675=)
c.1986T>C (p.Ala662=)
c.1032T>C (p.Ala344=)
c.2124T>C (p.Ala708=)
c.2064T>C (p.Ala688=)
c.1587T>C (p.Ala529=)
c.1212T>C (p.Ala404=)
3g.53723852T>GCA433895566CACNA1Dc.2013T>G (p.Ala671=)
c.1953T>G (p.Ala651=)
c.1253T>G
c.2025T>G (p.Ala675=)
c.1986T>G (p.Ala662=)
c.1032T>G (p.Ala344=)
c.2124T>G (p.Ala708=)
c.2064T>G (p.Ala688=)
c.1587T>G (p.Ala529=)
c.1212T>G (p.Ala404=)
3g.53723853T>ACA353237986CACNA1Dc.2014T>A (p.Ser672Thr)
c.1954T>A (p.Ser652Thr)
c.1254T>A
c.2026T>A (p.Ser676Thr)
c.1987T>A (p.Ser663Thr)
c.1033T>A (p.Ser345Thr)
c.2125T>A (p.Ser709Thr)
c.2065T>A (p.Ser689Thr)
c.1588T>A (p.Ser530Thr)
c.1213T>A (p.Ser405Thr)
3g.53723853T>CCA353237987CACNA1Dc.2014T>C (p.Ser672Pro)
c.1954T>C (p.Ser652Pro)
c.1254T>C
c.2026T>C (p.Ser676Pro)
c.1987T>C (p.Ser663Pro)
c.1033T>C (p.Ser345Pro)
c.2125T>C (p.Ser709Pro)
c.2065T>C (p.Ser689Pro)
c.1588T>C (p.Ser530Pro)
c.1213T>C (p.Ser405Pro)
3g.53723853T>GCA353237988CACNA1Dc.2014T>G (p.Ser672Ala)
c.1954T>G (p.Ser652Ala)
c.1254T>G
c.2026T>G (p.Ser676Ala)
c.1987T>G (p.Ser663Ala)
c.1033T>G (p.Ser345Ala)
c.2125T>G (p.Ser709Ala)
c.2065T>G (p.Ser689Ala)
c.1588T>G (p.Ser530Ala)
c.1213T>G (p.Ser405Ala)
3g.53723854C>ACA353237989CACNA1Dc.2015C>A (p.Ser672Ter)
c.1955C>A (p.Ser652Ter)
c.1255C>A
c.2027C>A (p.Ser676Ter)
c.1988C>A (p.Ser663Ter)
c.1034C>A (p.Ser345Ter)
c.2126C>A (p.Ser709Ter)
c.2066C>A (p.Ser689Ter)
c.1589C>A (p.Ser530Ter)
c.1214C>A (p.Ser405Ter)
3g.53723854C=CA1365449704CACNA1Dc.2015C= (p.Ser672=)
c.1955C= (p.Ser652=)
c.1255C=
c.2027C= (p.Ser676=)
c.1988C= (p.Ser663=)
c.1034C= (p.Ser345=)
c.2126C= (p.Ser709=)
c.2066C= (p.Ser689=)
c.1589C= (p.Ser530=)
c.1214C= (p.Ser405=)
3g.53723854C>GCA2454102CACNA1Dc.2015C>G (p.Ser672Trp)
c.1955C>G (p.Ser652Trp)
c.1255C>G
c.2027C>G (p.Ser676Trp)
c.1988C>G (p.Ser663Trp)
c.1034C>G (p.Ser345Trp)
c.2126C>G (p.Ser709Trp)
c.2066C>G (p.Ser689Trp)
c.1589C>G (p.Ser530Trp)
c.1214C>G (p.Ser405Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53723854C>TCA353237990CACNA1Dc.2015C>T (p.Ser672Leu)
c.1955C>T (p.Ser652Leu)
c.1255C>T
c.2027C>T (p.Ser676Leu)
c.1988C>T (p.Ser663Leu)
c.1034C>T (p.Ser345Leu)
c.2126C>T (p.Ser709Leu)
c.2066C>T (p.Ser689Leu)
c.1589C>T (p.Ser530Leu)
c.1214C>T (p.Ser405Leu)
 ClinVar dbSNP COSMIC
3g.53723855G>ACA2454103CACNA1Dc.2016G>A (p.Ser672=)
c.1956G>A (p.Ser652=)
c.1256G>A
c.2028G>A (p.Ser676=)
c.1989G>A (p.Ser663=)
c.1035G>A (p.Ser345=)
c.2127G>A (p.Ser709=)
c.2067G>A (p.Ser689=)
c.1590G>A (p.Ser530=)
c.1215G>A (p.Ser405=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.53723855G>CCA433895570CACNA1Dc.2016G>C (p.Ser672=)
c.1956G>C (p.Ser652=)
c.1256G>C
c.2028G>C (p.Ser676=)
c.1989G>C (p.Ser663=)
c.1035G>C (p.Ser345=)
c.2127G>C (p.Ser709=)
c.2067G>C (p.Ser689=)
c.1590G>C (p.Ser530=)
c.1215G>C (p.Ser405=)
3g.53723855G=CA1365449705CACNA1Dc.2016G= (p.Ser672=)
c.1956G= (p.Ser652=)
c.1256G=
c.2028G= (p.Ser676=)
c.1989G= (p.Ser663=)
c.1035G= (p.Ser345=)
c.2127G= (p.Ser709=)
c.2067G= (p.Ser689=)
c.1590G= (p.Ser530=)
c.1215G= (p.Ser405=)
3g.53723855G>TCA2454104CACNA1Dc.2016G>T (p.Ser672=)
c.1956G>T (p.Ser652=)
c.1256G>T
c.2028G>T (p.Ser676=)
c.1989G>T (p.Ser663=)
c.1035G>T (p.Ser345=)
c.2127G>T (p.Ser709=)
c.2067G>T (p.Ser689=)
c.1590G>T (p.Ser530=)
c.1215G>T (p.Ser405=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53723856C>ACA353237991CACNA1Dc.2017C>A (p.Leu673Met)
c.1957C>A (p.Leu653Met)
c.1257C>A
c.2029C>A (p.Leu677Met)
c.1990C>A (p.Leu664Met)
c.1036C>A (p.Leu346Met)
c.2128C>A (p.Leu710Met)
c.2068C>A (p.Leu690Met)
c.1591C>A (p.Leu531Met)
c.1216C>A (p.Leu406Met)
3g.53723856C=CA1365449706CACNA1Dc.2017C= (p.Leu673=)
c.1957C= (p.Leu653=)
c.1257C=
c.2029C= (p.Leu677=)
c.1990C= (p.Leu664=)
c.1036C= (p.Leu346=)
c.2128C= (p.Leu710=)
c.2068C= (p.Leu690=)
c.1591C= (p.Leu531=)
c.1216C= (p.Leu406=)
3g.53723856C>GCA353237992CACNA1Dc.2017C>G (p.Leu673Val)
c.1957C>G (p.Leu653Val)
c.1257C>G
c.2029C>G (p.Leu677Val)
c.1990C>G (p.Leu664Val)
c.1036C>G (p.Leu346Val)
c.2128C>G (p.Leu710Val)
c.2068C>G (p.Leu690Val)
c.1591C>G (p.Leu531Val)
c.1216C>G (p.Leu406Val)
3g.53723856C>TCA2454105CACNA1Dc.2017C>T (p.Leu673=)
c.1957C>T (p.Leu653=)
c.1257C>T
c.2029C>T (p.Leu677=)
c.1990C>T (p.Leu664=)
c.1036C>T (p.Leu346=)
c.2128C>T (p.Leu710=)
c.2068C>T (p.Leu690=)
c.1591C>T (p.Leu531=)
c.1216C>T (p.Leu406=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53723857T>ACA353237993CACNA1Dc.2018T>A (p.Leu673Gln)
c.1958T>A (p.Leu653Gln)
c.1258T>A
c.2030T>A (p.Leu677Gln)
c.1991T>A (p.Leu664Gln)
c.1037T>A (p.Leu346Gln)
c.2129T>A (p.Leu710Gln)
c.2069T>A (p.Leu690Gln)
c.1592T>A (p.Leu531Gln)
c.1217T>A (p.Leu406Gln)
3g.53723857T>CCA353237994CACNA1Dc.2018T>C (p.Leu673Pro)
c.1958T>C (p.Leu653Pro)
c.1258T>C
c.2030T>C (p.Leu677Pro)
c.1991T>C (p.Leu664Pro)
c.1037T>C (p.Leu346Pro)
c.2129T>C (p.Leu710Pro)
c.2069T>C (p.Leu690Pro)
c.1592T>C (p.Leu531Pro)
c.1217T>C (p.Leu406Pro)
 ClinVar dbSNP
3g.53723857T>GCA353237995CACNA1Dc.2018T>G (p.Leu673Arg)
c.1958T>G (p.Leu653Arg)
c.1258T>G
c.2030T>G (p.Leu677Arg)
c.1991T>G (p.Leu664Arg)
c.1037T>G (p.Leu346Arg)
c.2129T>G (p.Leu710Arg)
c.2069T>G (p.Leu690Arg)
c.1592T>G (p.Leu531Arg)
c.1217T>G (p.Leu406Arg)
3g.53723858G>ACA2454106CACNA1Dc.2019G>A (p.Leu673=)
c.1959G>A (p.Leu653=)
c.1259G>A
c.2031G>A (p.Leu677=)
c.1992G>A (p.Leu664=)
c.1038G>A (p.Leu346=)
c.2130G>A (p.Leu710=)
c.2070G>A (p.Leu690=)
c.1593G>A (p.Leu531=)
c.1218G>A (p.Leu406=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.53723858G>CCA433895575CACNA1Dc.2019G>C (p.Leu673=)
c.1959G>C (p.Leu653=)
c.1259G>C
c.2031G>C (p.Leu677=)
c.1992G>C (p.Leu664=)
c.1038G>C (p.Leu346=)
c.2130G>C (p.Leu710=)
c.2070G>C (p.Leu690=)
c.1593G>C (p.Leu531=)
c.1218G>C (p.Leu406=)
3g.53723858G=CA1365449707CACNA1Dc.2019G= (p.Leu673=)
c.1959G= (p.Leu653=)
c.1259G=
c.2031G= (p.Leu677=)
c.1992G= (p.Leu664=)
c.1038G= (p.Leu346=)
c.2130G= (p.Leu710=)
c.2070G= (p.Leu690=)
c.1593G= (p.Leu531=)
c.1218G= (p.Leu406=)
3g.53723858G>TCA433895576CACNA1Dc.2019G>T (p.Leu673=)
c.1959G>T (p.Leu653=)
c.1259G>T
c.2031G>T (p.Leu677=)
c.1992G>T (p.Leu664=)
c.1038G>T (p.Leu346=)
c.2130G>T (p.Leu710=)
c.2070G>T (p.Leu690=)
c.1593G>T (p.Leu531=)
c.1218G>T (p.Leu406=)
3g.53723859T>ACA353237996CACNA1Dc.2020T>A (p.Leu674Met)
c.1960T>A (p.Leu654Met)
c.1260T>A
c.2032T>A (p.Leu678Met)
c.1993T>A (p.Leu665Met)
c.1039T>A (p.Leu347Met)
c.2131T>A (p.Leu711Met)
c.2071T>A (p.Leu691Met)
c.1594T>A (p.Leu532Met)
c.1219T>A (p.Leu407Met)
3g.53723859T>CCA433895577CACNA1Dc.2020T>C (p.Leu674=)
c.1960T>C (p.Leu654=)
c.1260T>C
c.2032T>C (p.Leu678=)
c.1993T>C (p.Leu665=)
c.1039T>C (p.Leu347=)
c.2131T>C (p.Leu711=)
c.2071T>C (p.Leu691=)
c.1594T>C (p.Leu532=)
c.1219T>C (p.Leu407=)
 dbSNP gnomAD v3 gnomAD v4
3g.53723859T>GCA353237997CACNA1Dc.2020T>G (p.Leu674Val)
c.1960T>G (p.Leu654Val)
c.1260T>G
c.2032T>G (p.Leu678Val)
c.1993T>G (p.Leu665Val)
c.1039T>G (p.Leu347Val)
c.2131T>G (p.Leu711Val)
c.2071T>G (p.Leu691Val)
c.1594T>G (p.Leu532Val)
c.1219T>G (p.Leu407Val)
3g.53723859T=CA1365449708CACNA1Dc.2020T= (p.Leu674=)
c.1960T= (p.Leu654=)
c.1260T=
c.2032T= (p.Leu678=)
c.1993T= (p.Leu665=)
c.1039T= (p.Leu347=)
c.2131T= (p.Leu711=)
c.2071T= (p.Leu691=)
c.1594T= (p.Leu532=)
c.1219T= (p.Leu407=)
3g.53723860T>ACA353238000CACNA1Dc.2021T>A (p.Leu674Ter)
c.1961T>A (p.Leu654Ter)
c.1261T>A
c.2033T>A (p.Leu678Ter)
c.1994T>A (p.Leu665Ter)
c.1040T>A (p.Leu347Ter)
c.2132T>A (p.Leu711Ter)
c.2072T>A (p.Leu691Ter)
c.1595T>A (p.Leu532Ter)
c.1220T>A (p.Leu407Ter)
3g.53723860T>CCA353237998CACNA1Dc.2021T>C (p.Leu674Ser)
c.1961T>C (p.Leu654Ser)
c.1261T>C
c.2033T>C (p.Leu678Ser)
c.1994T>C (p.Leu665Ser)
c.1040T>C (p.Leu347Ser)
c.2132T>C (p.Leu711Ser)
c.2072T>C (p.Leu691Ser)
c.1595T>C (p.Leu532Ser)
c.1220T>C (p.Leu407Ser)
3g.53723860T>GCA353237999CACNA1Dc.2021T>G (p.Leu674Trp)
c.1961T>G (p.Leu654Trp)
c.1261T>G
c.2033T>G (p.Leu678Trp)
c.1994T>G (p.Leu665Trp)
c.1040T>G (p.Leu347Trp)
c.2132T>G (p.Leu711Trp)
c.2072T>G (p.Leu691Trp)
c.1595T>G (p.Leu532Trp)
c.1220T>G (p.Leu407Trp)
3g.53723861G>ACA433895580CACNA1Dc.2022G>A (p.Leu674=)
c.1962G>A (p.Leu654=)
c.1262G>A
c.2034G>A (p.Leu678=)
c.1995G>A (p.Leu665=)
c.1041G>A (p.Leu347=)
c.2133G>A (p.Leu711=)
c.2073G>A (p.Leu691=)
c.1596G>A (p.Leu532=)
c.1221G>A (p.Leu407=)
3g.53723861G>CCA353238001CACNA1Dc.2022G>C (p.Leu674Phe)
c.1962G>C (p.Leu654Phe)
c.1262G>C
c.2034G>C (p.Leu678Phe)
c.1995G>C (p.Leu665Phe)
c.1041G>C (p.Leu347Phe)
c.2133G>C (p.Leu711Phe)
c.2073G>C (p.Leu691Phe)
c.1596G>C (p.Leu532Phe)
c.1221G>C (p.Leu407Phe)
3g.53723861G>TCA353238002CACNA1Dc.2022G>T (p.Leu674Phe)
c.1962G>T (p.Leu654Phe)
c.1262G>T
c.2034G>T (p.Leu678Phe)
c.1995G>T (p.Leu665Phe)
c.1041G>T (p.Leu347Phe)
c.2133G>T (p.Leu711Phe)
c.2073G>T (p.Leu691Phe)
c.1596G>T (p.Leu532Phe)
c.1221G>T (p.Leu407Phe)
3g.53723862C>ACA353238003CACNA1Dc.2023C>A (p.Leu675Ile)
c.1963C>A (p.Leu655Ile)
c.1263C>A
c.2035C>A (p.Leu679Ile)
c.1996C>A (p.Leu666Ile)
c.1042C>A (p.Leu348Ile)
c.2134C>A (p.Leu712Ile)
c.2074C>A (p.Leu692Ile)
c.1597C>A (p.Leu533Ile)
c.1222C>A (p.Leu408Ile)
3g.53723862C=CA1365449709CACNA1Dc.2023C= (p.Leu675=)
c.1963C= (p.Leu655=)
c.1263C=
c.2035C= (p.Leu679=)
c.1996C= (p.Leu666=)
c.1042C= (p.Leu348=)
c.2134C= (p.Leu712=)
c.2074C= (p.Leu692=)
c.1597C= (p.Leu533=)
c.1222C= (p.Leu408=)
3g.53723862C>GCA353238004CACNA1Dc.2023C>G (p.Leu675Val)
c.1963C>G (p.Leu655Val)
c.1263C>G
c.2035C>G (p.Leu679Val)
c.1996C>G (p.Leu666Val)
c.1042C>G (p.Leu348Val)
c.2134C>G (p.Leu712Val)
c.2074C>G (p.Leu692Val)
c.1597C>G (p.Leu533Val)
c.1222C>G (p.Leu408Val)
3g.53723862C>TCA2454107CACNA1Dc.2023C>T (p.Leu675Phe)
c.1963C>T (p.Leu655Phe)
c.1263C>T
c.2035C>T (p.Leu679Phe)
c.1996C>T (p.Leu666Phe)
c.1042C>T (p.Leu348Phe)
c.2134C>T (p.Leu712Phe)
c.2074C>T (p.Leu692Phe)
c.1597C>T (p.Leu533Phe)
c.1222C>T (p.Leu408Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53723863T>ACA353238005CACNA1Dc.2024T>A (p.Leu675His)
c.1964T>A (p.Leu655His)
c.1264T>A
c.2036T>A (p.Leu679His)
c.1997T>A (p.Leu666His)
c.1043T>A (p.Leu348His)
c.2135T>A (p.Leu712His)
c.2075T>A (p.Leu692His)
c.1598T>A (p.Leu533His)
c.1223T>A (p.Leu408His)
3g.53723863T>CCA353238007CACNA1Dc.2024T>C (p.Leu675Pro)
c.1964T>C (p.Leu655Pro)
c.1264T>C
c.2036T>C (p.Leu679Pro)
c.1997T>C (p.Leu666Pro)
c.1043T>C (p.Leu348Pro)
c.2135T>C (p.Leu712Pro)
c.2075T>C (p.Leu692Pro)
c.1598T>C (p.Leu533Pro)
c.1223T>C (p.Leu408Pro)
 COSMIC
3g.53723863T>GCA353238006CACNA1Dc.2024T>G (p.Leu675Arg)
c.1964T>G (p.Leu655Arg)
c.1264T>G
c.2036T>G (p.Leu679Arg)
c.1997T>G (p.Leu666Arg)
c.1043T>G (p.Leu348Arg)
c.2135T>G (p.Leu712Arg)
c.2075T>G (p.Leu692Arg)
c.1598T>G (p.Leu533Arg)
c.1223T>G (p.Leu408Arg)
3g.53723864T>ACA433895583CACNA1Dc.2025T>A (p.Leu675=)
c.1965T>A (p.Leu655=)
c.1265T>A
c.2037T>A (p.Leu679=)
c.1998T>A (p.Leu666=)
c.1044T>A (p.Leu348=)
c.2136T>A (p.Leu712=)
c.2076T>A (p.Leu692=)
c.1599T>A (p.Leu533=)
c.1224T>A (p.Leu408=)
3g.53723864T>CCA433895584CACNA1Dc.2025T>C (p.Leu675=)
c.1965T>C (p.Leu655=)
c.1265T>C
c.2037T>C (p.Leu679=)
c.1998T>C (p.Leu666=)
c.1044T>C (p.Leu348=)
c.2136T>C (p.Leu712=)
c.2076T>C (p.Leu692=)
c.1599T>C (p.Leu533=)
c.1224T>C (p.Leu408=)
3g.53723864T>GCA433895585CACNA1Dc.2025T>G (p.Leu675=)
c.1965T>G (p.Leu655=)
c.1265T>G
c.2037T>G (p.Leu679=)
c.1998T>G (p.Leu666=)
c.1044T>G (p.Leu348=)
c.2136T>G (p.Leu712=)
c.2076T>G (p.Leu692=)
c.1599T>G (p.Leu533=)
c.1224T>G (p.Leu408=)
3g.53723865C>ACA353238008CACNA1Dc.2026C>A (p.Leu676Met)
c.1966C>A (p.Leu656Met)
c.1266C>A
c.2038C>A (p.Leu680Met)
c.1999C>A (p.Leu667Met)
c.1045C>A (p.Leu349Met)
c.2137C>A (p.Leu713Met)
c.2077C>A (p.Leu693Met)
c.1600C>A (p.Leu534Met)
c.1225C>A (p.Leu409Met)
3g.53723865C>GCA353238009CACNA1Dc.2026C>G (p.Leu676Val)
c.1966C>G (p.Leu656Val)
c.1266C>G
c.2038C>G (p.Leu680Val)
c.1999C>G (p.Leu667Val)
c.1045C>G (p.Leu349Val)
c.2137C>G (p.Leu713Val)
c.2077C>G (p.Leu693Val)
c.1600C>G (p.Leu534Val)
c.1225C>G (p.Leu409Val)
3g.53723865C>TCA433895587CACNA1Dc.2026C>T (p.Leu676=)
c.1966C>T (p.Leu656=)
c.1266C>T
c.2038C>T (p.Leu680=)
c.1999C>T (p.Leu667=)
c.1045C>T (p.Leu349=)
c.2137C>T (p.Leu713=)
c.2077C>T (p.Leu693=)
c.1600C>T (p.Leu534=)
c.1225C>T (p.Leu409=)
 gnomAD v4
3g.53723866T>ACA353238010CACNA1Dc.2027T>A (p.Leu676Gln)
c.1967T>A (p.Leu656Gln)
c.1267T>A
c.2039T>A (p.Leu680Gln)
c.2000T>A (p.Leu667Gln)
c.1046T>A (p.Leu349Gln)
c.2138T>A (p.Leu713Gln)
c.2078T>A (p.Leu693Gln)
c.1601T>A (p.Leu534Gln)
c.1226T>A (p.Leu409Gln)
3g.53723866T>CCA353238011CACNA1Dc.2027T>C (p.Leu676Pro)
c.1967T>C (p.Leu656Pro)
c.1267T>C
c.2039T>C (p.Leu680Pro)
c.2000T>C (p.Leu667Pro)
c.1046T>C (p.Leu349Pro)
c.2138T>C (p.Leu713Pro)
c.2078T>C (p.Leu693Pro)
c.1601T>C (p.Leu534Pro)
c.1226T>C (p.Leu409Pro)
3g.53723866T>GCA353238012CACNA1Dc.2027T>G (p.Leu676Arg)
c.1967T>G (p.Leu656Arg)
c.1267T>G
c.2039T>G (p.Leu680Arg)
c.2000T>G (p.Leu667Arg)
c.1046T>G (p.Leu349Arg)
c.2138T>G (p.Leu713Arg)
c.2078T>G (p.Leu693Arg)
c.1601T>G (p.Leu534Arg)
c.1226T>G (p.Leu409Arg)
3g.53723867G>ACA433895589CACNA1Dc.2028G>A (p.Leu676=)
c.1968G>A (p.Leu656=)
c.1268G>A
c.2040G>A (p.Leu680=)
c.2001G>A (p.Leu667=)
c.1047G>A (p.Leu349=)
c.2139G>A (p.Leu713=)
c.2079G>A (p.Leu693=)
c.1602G>A (p.Leu534=)
c.1227G>A (p.Leu409=)
 gnomAD v4
3g.53723867G>CCA433895590CACNA1Dc.2028G>C (p.Leu676=)
c.1968G>C (p.Leu656=)
c.1268G>C
c.2040G>C (p.Leu680=)
c.2001G>C (p.Leu667=)
c.1047G>C (p.Leu349=)
c.2139G>C (p.Leu713=)
c.2079G>C (p.Leu693=)
c.1602G>C (p.Leu534=)
c.1227G>C (p.Leu409=)
3g.53723867G=CA1365449710CACNA1Dc.2028G= (p.Leu676=)
c.1968G= (p.Leu656=)
c.1268G=
c.2040G= (p.Leu680=)
c.2001G= (p.Leu667=)
c.1047G= (p.Leu349=)
c.2139G= (p.Leu713=)
c.2079G= (p.Leu693=)
c.1602G= (p.Leu534=)
c.1227G= (p.Leu409=)
3g.53723867G>TCA433895593CACNA1Dc.2028G>T (p.Leu676=)
c.1968G>T (p.Leu656=)
c.1268G>T
c.2040G>T (p.Leu680=)
c.2001G>T (p.Leu667=)
c.1047G>T (p.Leu349=)
c.2139G>T (p.Leu713=)
c.2079G>T (p.Leu693=)
c.1602G>T (p.Leu534=)
c.1227G>T (p.Leu409=)
 dbSNP gnomAD v2 gnomAD v4
3g.53723868C>ACA353238013CACNA1Dc.2029C>A (p.Leu677Ile)
c.1969C>A (p.Leu657Ile)
c.1269C>A
c.2041C>A (p.Leu681Ile)
c.2002C>A (p.Leu668Ile)
c.1048C>A (p.Leu350Ile)
c.2140C>A (p.Leu714Ile)
c.2080C>A (p.Leu694Ile)
c.1603C>A (p.Leu535Ile)
c.1228C>A (p.Leu410Ile)
3g.53723868C>GCA353238014CACNA1Dc.2029C>G (p.Leu677Val)
c.1969C>G (p.Leu657Val)
c.1269C>G
c.2041C>G (p.Leu681Val)
c.2002C>G (p.Leu668Val)
c.1048C>G (p.Leu350Val)
c.2140C>G (p.Leu714Val)
c.2080C>G (p.Leu694Val)
c.1603C>G (p.Leu535Val)
c.1228C>G (p.Leu410Val)
3g.53723868C>TCA353238015CACNA1Dc.2029C>T (p.Leu677Phe)
c.1969C>T (p.Leu657Phe)
c.1269C>T
c.2041C>T (p.Leu681Phe)
c.2002C>T (p.Leu668Phe)
c.1048C>T (p.Leu350Phe)
c.2140C>T (p.Leu714Phe)
c.2080C>T (p.Leu694Phe)
c.1603C>T (p.Leu535Phe)
c.1228C>T (p.Leu410Phe)
3g.53723869T>ACA353238016CACNA1Dc.2030T>A (p.Leu677His)
c.1970T>A (p.Leu657His)
c.1270T>A
c.2042T>A (p.Leu681His)
c.2003T>A (p.Leu668His)
c.1049T>A (p.Leu350His)
c.2141T>A (p.Leu714His)
c.2081T>A (p.Leu694His)
c.1604T>A (p.Leu535His)
c.1229T>A (p.Leu410His)
3g.53723869T>CCA353238017CACNA1Dc.2030T>C (p.Leu677Pro)
c.1970T>C (p.Leu657Pro)
c.1270T>C
c.2042T>C (p.Leu681Pro)
c.2003T>C (p.Leu668Pro)
c.1049T>C (p.Leu350Pro)
c.2141T>C (p.Leu714Pro)
c.2081T>C (p.Leu694Pro)
c.1604T>C (p.Leu535Pro)
c.1229T>C (p.Leu410Pro)
3g.53723869T>GCA353238018CACNA1Dc.2030T>G (p.Leu677Arg)
c.1970T>G (p.Leu657Arg)
c.1270T>G
c.2042T>G (p.Leu681Arg)
c.2003T>G (p.Leu668Arg)
c.1049T>G (p.Leu350Arg)
c.2141T>G (p.Leu714Arg)
c.2081T>G (p.Leu694Arg)
c.1604T>G (p.Leu535Arg)
c.1229T>G (p.Leu410Arg)
3g.53723870T>ACA433895599CACNA1Dc.2031T>A (p.Leu677=)
c.1971T>A (p.Leu657=)
c.1271T>A
c.2043T>A (p.Leu681=)
c.2004T>A (p.Leu668=)
c.1050T>A (p.Leu350=)
c.2142T>A (p.Leu714=)
c.2082T>A (p.Leu694=)
c.1605T>A (p.Leu535=)
c.1230T>A (p.Leu410=)
3g.53723870T>CCA433895603CACNA1Dc.2031T>C (p.Leu677=)
c.1971T>C (p.Leu657=)
c.1271T>C
c.2043T>C (p.Leu681=)
c.2004T>C (p.Leu668=)
c.1050T>C (p.Leu350=)
c.2142T>C (p.Leu714=)
c.2082T>C (p.Leu694=)
c.1605T>C (p.Leu535=)
c.1230T>C (p.Leu410=)
3g.53723870T>GCA433895600CACNA1Dc.2031T>G (p.Leu677=)
c.1971T>G (p.Leu657=)
c.1271T>G
c.2043T>G (p.Leu681=)
c.2004T>G (p.Leu668=)
c.1050T>G (p.Leu350=)
c.2142T>G (p.Leu714=)
c.2082T>G (p.Leu694=)
c.1605T>G (p.Leu535=)
c.1230T>G (p.Leu410=)
3g.53723871T>ACA353238021CACNA1Dc.2032T>A (p.Phe678Ile)
c.1972T>A (p.Phe658Ile)
c.1272T>A
c.2044T>A (p.Phe682Ile)
c.2005T>A (p.Phe669Ile)
c.1051T>A (p.Phe351Ile)
c.2143T>A (p.Phe715Ile)
c.2083T>A (p.Phe695Ile)
c.1606T>A (p.Phe536Ile)
c.1231T>A (p.Phe411Ile)
3g.53723871T>CCA353238020CACNA1Dc.2032T>C (p.Phe678Leu)
c.1972T>C (p.Phe658Leu)
c.1272T>C
c.2044T>C (p.Phe682Leu)
c.2005T>C (p.Phe669Leu)
c.1051T>C (p.Phe351Leu)
c.2143T>C (p.Phe715Leu)
c.2083T>C (p.Phe695Leu)
c.1606T>C (p.Phe536Leu)
c.1231T>C (p.Phe411Leu)
3g.53723871T>GCA353238019CACNA1Dc.2032T>G (p.Phe678Val)
c.1972T>G (p.Phe658Val)
c.1272T>G
c.2044T>G (p.Phe682Val)
c.2005T>G (p.Phe669Val)
c.1051T>G (p.Phe351Val)
c.2143T>G (p.Phe715Val)
c.2083T>G (p.Phe695Val)
c.1606T>G (p.Phe536Val)
c.1231T>G (p.Phe411Val)
3g.53723872T>ACA353238022CACNA1Dc.2033T>A (p.Phe678Tyr)
c.1973T>A (p.Phe658Tyr)
c.1273T>A
c.2045T>A (p.Phe682Tyr)
c.2006T>A (p.Phe669Tyr)
c.1052T>A (p.Phe351Tyr)
c.2144T>A (p.Phe715Tyr)
c.2084T>A (p.Phe695Tyr)
c.1607T>A (p.Phe536Tyr)
c.1232T>A (p.Phe411Tyr)
3g.53723872T>CCA353238024CACNA1Dc.2033T>C (p.Phe678Ser)
c.1973T>C (p.Phe658Ser)
c.1273T>C
c.2045T>C (p.Phe682Ser)
c.2006T>C (p.Phe669Ser)
c.1052T>C (p.Phe351Ser)
c.2144T>C (p.Phe715Ser)
c.2084T>C (p.Phe695Ser)
c.1607T>C (p.Phe536Ser)
c.1232T>C (p.Phe411Ser)
3g.53723872T>GCA353238023CACNA1Dc.2033T>G (p.Phe678Cys)
c.1973T>G (p.Phe658Cys)
c.1273T>G
c.2045T>G (p.Phe682Cys)
c.2006T>G (p.Phe669Cys)
c.1052T>G (p.Phe351Cys)
c.2144T>G (p.Phe715Cys)
c.2084T>G (p.Phe695Cys)
c.1607T>G (p.Phe536Cys)
c.1232T>G (p.Phe411Cys)
3g.53723873T>ACA353238025CACNA1Dc.2034T>A (p.Phe678Leu)
c.1974T>A (p.Phe658Leu)
c.1274T>A
c.2046T>A (p.Phe682Leu)
c.2007T>A (p.Phe669Leu)
c.1053T>A (p.Phe351Leu)
c.2145T>A (p.Phe715Leu)
c.2085T>A (p.Phe695Leu)
c.1608T>A (p.Phe536Leu)
c.1233T>A (p.Phe411Leu)
3g.53723873T>CCA433895606CACNA1Dc.2034T>C (p.Phe678=)
c.1974T>C (p.Phe658=)
c.1274T>C
c.2046T>C (p.Phe682=)
c.2007T>C (p.Phe669=)
c.1053T>C (p.Phe351=)
c.2145T>C (p.Phe715=)
c.2085T>C (p.Phe695=)
c.1608T>C (p.Phe536=)
c.1233T>C (p.Phe411=)
3g.53723873T>GCA353238026CACNA1Dc.2034T>G (p.Phe678Leu)
c.1974T>G (p.Phe658Leu)
c.1274T>G
c.2046T>G (p.Phe682Leu)
c.2007T>G (p.Phe669Leu)
c.1053T>G (p.Phe351Leu)
c.2145T>G (p.Phe715Leu)
c.2085T>G (p.Phe695Leu)
c.1608T>G (p.Phe536Leu)
c.1233T>G (p.Phe411Leu)
3g.53723874C>ACA353238027CACNA1Dc.2035C>A (p.Leu679Ile)
c.1975C>A (p.Leu659Ile)
c.1275C>A
c.2047C>A (p.Leu683Ile)
c.2008C>A (p.Leu670Ile)
c.1054C>A (p.Leu352Ile)
c.2146C>A (p.Leu716Ile)
c.2086C>A (p.Leu696Ile)
c.1609C>A (p.Leu537Ile)
c.1234C>A (p.Leu412Ile)
3g.53723874C>GCA353238028CACNA1Dc.2035C>G (p.Leu679Val)
c.1975C>G (p.Leu659Val)
c.1275C>G
c.2047C>G (p.Leu683Val)
c.2008C>G (p.Leu670Val)
c.1054C>G (p.Leu352Val)
c.2146C>G (p.Leu716Val)
c.2086C>G (p.Leu696Val)
c.1609C>G (p.Leu537Val)
c.1234C>G (p.Leu412Val)
3g.53723874C>TCA353238029CACNA1Dc.2035C>T (p.Leu679Phe)
c.1975C>T (p.Leu659Phe)
c.1275C>T
c.2047C>T (p.Leu683Phe)
c.2008C>T (p.Leu670Phe)
c.1054C>T (p.Leu352Phe)
c.2146C>T (p.Leu716Phe)
c.2086C>T (p.Leu696Phe)
c.1609C>T (p.Leu537Phe)
c.1234C>T (p.Leu412Phe)
3g.53723875T>ACA353238030CACNA1Dc.2036T>A (p.Leu679His)
c.1976T>A (p.Leu659His)
c.1276T>A
c.2048T>A (p.Leu683His)
c.2009T>A (p.Leu670His)
c.1055T>A (p.Leu352His)
c.2147T>A (p.Leu716His)
c.2087T>A (p.Leu696His)
c.1610T>A (p.Leu537His)
c.1235T>A (p.Leu412His)
3g.53723875T>CCA353238031CACNA1Dc.2036T>C (p.Leu679Pro)
c.1976T>C (p.Leu659Pro)
c.1276T>C
c.2048T>C (p.Leu683Pro)
c.2009T>C (p.Leu670Pro)
c.1055T>C (p.Leu352Pro)
c.2147T>C (p.Leu716Pro)
c.2087T>C (p.Leu696Pro)
c.1610T>C (p.Leu537Pro)
c.1235T>C (p.Leu412Pro)
3g.53723875T>GCA353238032CACNA1Dc.2036T>G (p.Leu679Arg)
c.1976T>G (p.Leu659Arg)
c.1276T>G
c.2048T>G (p.Leu683Arg)
c.2009T>G (p.Leu670Arg)
c.1055T>G (p.Leu352Arg)
c.2147T>G (p.Leu716Arg)
c.2087T>G (p.Leu696Arg)
c.1610T>G (p.Leu537Arg)
c.1235T>G (p.Leu412Arg)
3g.53723876C>ACA433895609CACNA1Dc.2037C>A (p.Leu679=)
c.1977C>A (p.Leu659=)
c.1277C>A
c.2049C>A (p.Leu683=)
c.2010C>A (p.Leu670=)
c.1056C>A (p.Leu352=)
c.2148C>A (p.Leu716=)
c.2088C>A (p.Leu696=)
c.1611C>A (p.Leu537=)
c.1236C>A (p.Leu412=)
3g.53723876C>GCA433895610CACNA1Dc.2037C>G (p.Leu679=)
c.1977C>G (p.Leu659=)
c.1277C>G
c.2049C>G (p.Leu683=)
c.2010C>G (p.Leu670=)
c.1056C>G (p.Leu352=)
c.2148C>G (p.Leu716=)
c.2088C>G (p.Leu696=)
c.1611C>G (p.Leu537=)
c.1236C>G (p.Leu412=)
3g.53723876C>TCA433895611CACNA1Dc.2037C>T (p.Leu679=)
c.1977C>T (p.Leu659=)
c.1277C>T
c.2049C>T (p.Leu683=)
c.2010C>T (p.Leu670=)
c.1056C>T (p.Leu352=)
c.2148C>T (p.Leu716=)
c.2088C>T (p.Leu696=)
c.1611C>T (p.Leu537=)
c.1236C>T (p.Leu412=)
3g.53723877T>ACA353238033CACNA1Dc.2038T>A (p.Phe680Ile)
c.1978T>A (p.Phe660Ile)
c.1278T>A
c.2050T>A (p.Phe684Ile)
c.2011T>A (p.Phe671Ile)
c.1057T>A (p.Phe353Ile)
c.2149T>A (p.Phe717Ile)
c.2089T>A (p.Phe697Ile)
c.1612T>A (p.Phe538Ile)
c.1237T>A (p.Phe413Ile)
3g.53723877T>CCA353238034CACNA1Dc.2038T>C (p.Phe680Leu)
c.1978T>C (p.Phe660Leu)
c.1278T>C
c.2050T>C (p.Phe684Leu)
c.2011T>C (p.Phe671Leu)
c.1057T>C (p.Phe353Leu)
c.2149T>C (p.Phe717Leu)
c.2089T>C (p.Phe697Leu)
c.1612T>C (p.Phe538Leu)
c.1237T>C (p.Phe413Leu)
 gnomAD v4
3g.53723877T>GCA353238035CACNA1Dc.2038T>G (p.Phe680Val)
c.1978T>G (p.Phe660Val)
c.1278T>G
c.2050T>G (p.Phe684Val)
c.2011T>G (p.Phe671Val)
c.1057T>G (p.Phe353Val)
c.2149T>G (p.Phe717Val)
c.2089T>G (p.Phe697Val)
c.1612T>G (p.Phe538Val)
c.1237T>G (p.Phe413Val)
3g.53723879_53723882delCA433895614CACNA1Dc.2040_2043del (p.Phe680LeufsTer?)
c.1980_1983del (p.Phe660LeufsTer?)
c.1280_1283del
c.2052_2055del (p.Phe684LeufsTer?)
c.2013_2016del (p.Phe671LeufsTer?)
c.1059_1062del (p.Phe353LeufsTer?)
c.2151_2154del (p.Phe717LeufsTer?)
c.2091_2094del (p.Phe697LeufsTer?)
c.1614_1617del (p.Phe538LeufsTer?)
c.1239_1242del (p.Phe413LeufsTer?)
3g.53723878T>ACA353238038CACNA1Dc.2039T>A (p.Phe680Tyr)
c.1979T>A (p.Phe660Tyr)
c.1279T>A
c.2051T>A (p.Phe684Tyr)
c.2012T>A (p.Phe671Tyr)
c.1058T>A (p.Phe353Tyr)
c.2150T>A (p.Phe717Tyr)
c.2090T>A (p.Phe697Tyr)
c.1613T>A (p.Phe538Tyr)
c.1238T>A (p.Phe413Tyr)
3g.53723878T>CCA353238037CACNA1Dc.2039T>C (p.Phe680Ser)
c.1979T>C (p.Phe660Ser)
c.1279T>C
c.2051T>C (p.Phe684Ser)
c.2012T>C (p.Phe671Ser)
c.1058T>C (p.Phe353Ser)
c.2150T>C (p.Phe717Ser)
c.2090T>C (p.Phe697Ser)
c.1613T>C (p.Phe538Ser)
c.1238T>C (p.Phe413Ser)
3g.53723878T>GCA353238036CACNA1Dc.2039T>G (p.Phe680Cys)
c.1979T>G (p.Phe660Cys)
c.1279T>G
c.2051T>G (p.Phe684Cys)
c.2012T>G (p.Phe671Cys)
c.1058T>G (p.Phe353Cys)
c.2150T>G (p.Phe717Cys)
c.2090T>G (p.Phe697Cys)
c.1613T>G (p.Phe538Cys)
c.1238T>G (p.Phe413Cys)
3g.53723879C>ACA353238039CACNA1Dc.2040C>A (p.Phe680Leu)
c.1980C>A (p.Phe660Leu)
c.1280C>A
c.2052C>A (p.Phe684Leu)
c.2013C>A (p.Phe671Leu)
c.1059C>A (p.Phe353Leu)
c.2151C>A (p.Phe717Leu)
c.2091C>A (p.Phe697Leu)
c.1614C>A (p.Phe538Leu)
c.1239C>A (p.Phe413Leu)
3g.53723879C>GCA353238040CACNA1Dc.2040C>G (p.Phe680Leu)
c.1980C>G (p.Phe660Leu)
c.1280C>G
c.2052C>G (p.Phe684Leu)
c.2013C>G (p.Phe671Leu)
c.1059C>G (p.Phe353Leu)
c.2151C>G (p.Phe717Leu)
c.2091C>G (p.Phe697Leu)
c.1614C>G (p.Phe538Leu)
c.1239C>G (p.Phe413Leu)
3g.53723879C>TCA433895620CACNA1Dc.2040C>T (p.Phe680=)
c.1980C>T (p.Phe660=)
c.1280C>T
c.2052C>T (p.Phe684=)
c.2013C>T (p.Phe671=)
c.1059C>T (p.Phe353=)
c.2151C>T (p.Phe717=)
c.2091C>T (p.Phe697=)
c.1614C>T (p.Phe538=)
c.1239C>T (p.Phe413=)
3g.53723880A=CA1365449711CACNA1Dc.2041A= (p.Ile681=)
c.1981A= (p.Ile661=)
c.1281A=
c.2053A= (p.Ile685=)
c.2014A= (p.Ile672=)
c.1060A= (p.Ile354=)
c.2152A= (p.Ile718=)
c.2092A= (p.Ile698=)
c.1615A= (p.Ile539=)
c.1240A= (p.Ile414=)
3g.53723880A>CCA353238041CACNA1Dc.2041A>C (p.Ile681Leu)
c.1981A>C (p.Ile661Leu)
c.1281A>C
c.2053A>C (p.Ile685Leu)
c.2014A>C (p.Ile672Leu)
c.1060A>C (p.Ile354Leu)
c.2152A>C (p.Ile718Leu)
c.2092A>C (p.Ile698Leu)
c.1615A>C (p.Ile539Leu)
c.1240A>C (p.Ile414Leu)
3g.53723880A>GCA2454108CACNA1Dc.2041A>G (p.Ile681Val)
c.1981A>G (p.Ile661Val)
c.1281A>G
c.2053A>G (p.Ile685Val)
c.2014A>G (p.Ile672Val)
c.1060A>G (p.Ile354Val)
c.2152A>G (p.Ile718Val)
c.2092A>G (p.Ile698Val)
c.1615A>G (p.Ile539Val)
c.1240A>G (p.Ile414Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53723880A>TCA353238042CACNA1Dc.2041A>T (p.Ile681Phe)
c.1981A>T (p.Ile661Phe)
c.1281A>T
c.2053A>T (p.Ile685Phe)
c.2014A>T (p.Ile672Phe)
c.1060A>T (p.Ile354Phe)
c.2152A>T (p.Ile718Phe)
c.2092A>T (p.Ile698Phe)
c.1615A>T (p.Ile539Phe)
c.1240A>T (p.Ile414Phe)
3g.53723881T>ACA353238043CACNA1Dc.2042T>A (p.Ile681Asn)
c.1982T>A (p.Ile661Asn)
c.1282T>A
c.2054T>A (p.Ile685Asn)
c.2015T>A (p.Ile672Asn)
c.1061T>A (p.Ile354Asn)
c.2153T>A (p.Ile718Asn)
c.2093T>A (p.Ile698Asn)
c.1616T>A (p.Ile539Asn)
c.1241T>A (p.Ile414Asn)
3g.53723881T>CCA353238044CACNA1Dc.2042T>C (p.Ile681Thr)
c.1982T>C (p.Ile661Thr)
c.1282T>C
c.2054T>C (p.Ile685Thr)
c.2015T>C (p.Ile672Thr)
c.1061T>C (p.Ile354Thr)
c.2153T>C (p.Ile718Thr)
c.2093T>C (p.Ile698Thr)
c.1616T>C (p.Ile539Thr)
c.1241T>C (p.Ile414Thr)
3g.53723881T>GCA353238045CACNA1Dc.2042T>G (p.Ile681Ser)
c.1982T>G (p.Ile661Ser)
c.1282T>G
c.2054T>G (p.Ile685Ser)
c.2015T>G (p.Ile672Ser)
c.1061T>G (p.Ile354Ser)
c.2153T>G (p.Ile718Ser)
c.2093T>G (p.Ile698Ser)
c.1616T>G (p.Ile539Ser)
c.1241T>G (p.Ile414Ser)
3g.53723882T>ACA433895624CACNA1Dc.2043T>A (p.Ile681=)
c.1983T>A (p.Ile661=)
c.1283T>A
c.2055T>A (p.Ile685=)
c.2016T>A (p.Ile672=)
c.1062T>A (p.Ile354=)
c.2154T>A (p.Ile718=)
c.2094T>A (p.Ile698=)
c.1617T>A (p.Ile539=)
c.1242T>A (p.Ile414=)
3g.53723882T>CCA74848480CACNA1Dc.2043T>C (p.Ile681=)
c.1983T>C (p.Ile661=)
c.1283T>C
c.2055T>C (p.Ile685=)
c.2016T>C (p.Ile672=)
c.1062T>C (p.Ile354=)
c.2154T>C (p.Ile718=)
c.2094T>C (p.Ile698=)
c.1617T>C (p.Ile539=)
c.1242T>C (p.Ile414=)
 ClinVar dbSNP
3g.53723882T>GCA353238046CACNA1Dc.2043T>G (p.Ile681Met)
c.1983T>G (p.Ile661Met)
c.1283T>G
c.2055T>G (p.Ile685Met)
c.2016T>G (p.Ile672Met)
c.1062T>G (p.Ile354Met)
c.2154T>G (p.Ile718Met)
c.2094T>G (p.Ile698Met)
c.1617T>G (p.Ile539Met)
c.1242T>G (p.Ile414Met)
3g.53723882T=CA1365449712CACNA1Dc.2043T= (p.Ile681=)
c.1983T= (p.Ile661=)
c.1283T=
c.2055T= (p.Ile685=)
c.2016T= (p.Ile672=)
c.1062T= (p.Ile354=)
c.2154T= (p.Ile718=)
c.2094T= (p.Ile698=)
c.1617T= (p.Ile539=)
c.1242T= (p.Ile414=)
3g.53723883A>CCA353238047CACNA1Dc.2044A>C (p.Ile682Leu)
c.1984A>C (p.Ile662Leu)
c.1284A>C
c.2056A>C (p.Ile686Leu)
c.2017A>C (p.Ile673Leu)
c.1063A>C (p.Ile355Leu)
c.2155A>C (p.Ile719Leu)
c.2095A>C (p.Ile699Leu)
c.1618A>C (p.Ile540Leu)
c.1243A>C (p.Ile415Leu)
3g.53723883A>GCA353238048CACNA1Dc.2044A>G (p.Ile682Val)
c.1984A>G (p.Ile662Val)
c.1284A>G
c.2056A>G (p.Ile686Val)
c.2017A>G (p.Ile673Val)
c.1063A>G (p.Ile355Val)
c.2155A>G (p.Ile719Val)
c.2095A>G (p.Ile699Val)
c.1618A>G (p.Ile540Val)
c.1243A>G (p.Ile415Val)
 gnomAD v4
3g.53723883A>TCA353238049CACNA1Dc.2044A>T (p.Ile682Phe)
c.1984A>T (p.Ile662Phe)
c.1284A>T
c.2056A>T (p.Ile686Phe)
c.2017A>T (p.Ile673Phe)
c.1063A>T (p.Ile355Phe)
c.2155A>T (p.Ile719Phe)
c.2095A>T (p.Ile699Phe)
c.1618A>T (p.Ile540Phe)
c.1243A>T (p.Ile415Phe)
3g.53723884T>ACA353238052CACNA1Dc.2045T>A (p.Ile682Asn)
c.1985T>A (p.Ile662Asn)
c.1285T>A
c.2057T>A (p.Ile686Asn)
c.2018T>A (p.Ile673Asn)
c.1064T>A (p.Ile355Asn)
c.2156T>A (p.Ile719Asn)
c.2096T>A (p.Ile699Asn)
c.1619T>A (p.Ile540Asn)
c.1244T>A (p.Ile415Asn)
3g.53723884T>CCA353238051CACNA1Dc.2045T>C (p.Ile682Thr)
c.1985T>C (p.Ile662Thr)
c.1285T>C
c.2057T>C (p.Ile686Thr)
c.2018T>C (p.Ile673Thr)
c.1064T>C (p.Ile355Thr)
c.2156T>C (p.Ile719Thr)
c.2096T>C (p.Ile699Thr)
c.1619T>C (p.Ile540Thr)
c.1244T>C (p.Ile415Thr)
3g.53723884T>GCA353238050CACNA1Dc.2045T>G (p.Ile682Ser)
c.1985T>G (p.Ile662Ser)
c.1285T>G
c.2057T>G (p.Ile686Ser)
c.2018T>G (p.Ile673Ser)
c.1064T>G (p.Ile355Ser)
c.2156T>G (p.Ile719Ser)
c.2096T>G (p.Ile699Ser)
c.1619T>G (p.Ile540Ser)
c.1244T>G (p.Ile415Ser)
3g.53723885C>ACA433895628CACNA1Dc.2046C>A (p.Ile682=)
c.1986C>A (p.Ile662=)
c.1286C>A
c.2058C>A (p.Ile686=)
c.2019C>A (p.Ile673=)
c.1065C>A (p.Ile355=)
c.2157C>A (p.Ile719=)
c.2097C>A (p.Ile699=)
c.1620C>A (p.Ile540=)
c.1245C>A (p.Ile415=)
3g.53723885C=CA1365449713CACNA1Dc.2046C= (p.Ile682=)
c.1986C= (p.Ile662=)
c.1286C=
c.2058C= (p.Ile686=)
c.2019C= (p.Ile673=)
c.1065C= (p.Ile355=)
c.2157C= (p.Ile719=)
c.2097C= (p.Ile699=)
c.1620C= (p.Ile540=)
c.1245C= (p.Ile415=)
3g.53723885C>GCA353238053CACNA1Dc.2046C>G (p.Ile682Met)
c.1986C>G (p.Ile662Met)
c.1286C>G
c.2058C>G (p.Ile686Met)
c.2019C>G (p.Ile673Met)
c.1065C>G (p.Ile355Met)
c.2157C>G (p.Ile719Met)
c.2097C>G (p.Ile699Met)
c.1620C>G (p.Ile540Met)
c.1245C>G (p.Ile415Met)
 gnomAD v4
3g.53723885C>TCA2454109CACNA1Dc.2046C>T (p.Ile682=)
c.1986C>T (p.Ile662=)
c.1286C>T
c.2058C>T (p.Ile686=)
c.2019C>T (p.Ile673=)
c.1065C>T (p.Ile355=)
c.2157C>T (p.Ile719=)
c.2097C>T (p.Ile699=)
c.1620C>T (p.Ile540=)
c.1245C>T (p.Ile415=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53723886A>CCA353238054CACNA1Dc.2047A>C (p.Ile683Leu)
c.1987A>C (p.Ile663Leu)
c.1287A>C
c.2059A>C (p.Ile687Leu)
c.2020A>C (p.Ile674Leu)
c.1066A>C (p.Ile356Leu)
c.2158A>C (p.Ile720Leu)
c.2098A>C (p.Ile700Leu)
c.1621A>C (p.Ile541Leu)
c.1246A>C (p.Ile416Leu)
3g.53723886A>GCA353238055CACNA1Dc.2047A>G (p.Ile683Val)
c.1987A>G (p.Ile663Val)
c.1287A>G
c.2059A>G (p.Ile687Val)
c.2020A>G (p.Ile674Val)
c.1066A>G (p.Ile356Val)
c.2158A>G (p.Ile720Val)
c.2098A>G (p.Ile700Val)
c.1621A>G (p.Ile541Val)
c.1246A>G (p.Ile416Val)
 COSMIC COSMIC
3g.53723886A>TCA353238056CACNA1Dc.2047A>T (p.Ile683Phe)
c.1987A>T (p.Ile663Phe)
c.1287A>T
c.2059A>T (p.Ile687Phe)
c.2020A>T (p.Ile674Phe)
c.1066A>T (p.Ile356Phe)
c.2158A>T (p.Ile720Phe)
c.2098A>T (p.Ile700Phe)
c.1621A>T (p.Ile541Phe)
c.1246A>T (p.Ile416Phe)
3g.53723887T>ACA353238057CACNA1Dc.2048T>A (p.Ile683Asn)
c.1988T>A (p.Ile663Asn)
c.1288T>A
c.2060T>A (p.Ile687Asn)
c.2021T>A (p.Ile674Asn)
c.1067T>A (p.Ile356Asn)
c.2159T>A (p.Ile720Asn)
c.2099T>A (p.Ile700Asn)
c.1622T>A (p.Ile541Asn)
c.1247T>A (p.Ile416Asn)
3g.53723887T>CCA353238058CACNA1Dc.2048T>C (p.Ile683Thr)
c.1988T>C (p.Ile663Thr)
c.1288T>C
c.2060T>C (p.Ile687Thr)
c.2021T>C (p.Ile674Thr)
c.1067T>C (p.Ile356Thr)
c.2159T>C (p.Ile720Thr)
c.2099T>C (p.Ile700Thr)
c.1622T>C (p.Ile541Thr)
c.1247T>C (p.Ile416Thr)
 COSMIC COSMIC
3g.53723887T>GCA353238059CACNA1Dc.2048T>G (p.Ile683Ser)
c.1988T>G (p.Ile663Ser)
c.1288T>G
c.2060T>G (p.Ile687Ser)
c.2021T>G (p.Ile674Ser)
c.1067T>G (p.Ile356Ser)
c.2159T>G (p.Ile720Ser)
c.2099T>G (p.Ile700Ser)
c.1622T>G (p.Ile541Ser)
c.1247T>G (p.Ile416Ser)
3g.53723888C>ACA433895632CACNA1Dc.2049C>A (p.Ile683=)
c.1989C>A (p.Ile663=)
c.1289C>A
c.2061C>A (p.Ile687=)
c.2022C>A (p.Ile674=)
c.1068C>A (p.Ile356=)
c.2160C>A (p.Ile720=)
c.2100C>A (p.Ile700=)
c.1623C>A (p.Ile541=)
c.1248C>A (p.Ile416=)
 gnomAD v4
3g.53723888C>GCA353238060CACNA1Dc.2049C>G (p.Ile683Met)
c.1989C>G (p.Ile663Met)
c.1289C>G
c.2061C>G (p.Ile687Met)
c.2022C>G (p.Ile674Met)
c.1068C>G (p.Ile356Met)
c.2160C>G (p.Ile720Met)
c.2100C>G (p.Ile700Met)
c.1623C>G (p.Ile541Met)
c.1248C>G (p.Ile416Met)
3g.53723888C>TCA433895633CACNA1Dc.2049C>T (p.Ile683=)
c.1989C>T (p.Ile663=)
c.1289C>T
c.2061C>T (p.Ile687=)
c.2022C>T (p.Ile674=)
c.1068C>T (p.Ile356=)
c.2160C>T (p.Ile720=)
c.2100C>T (p.Ile700=)
c.1623C>T (p.Ile541=)
c.1248C>T (p.Ile416=)
3g.53723889T>ACA353238061CACNA1Dc.2050T>A (p.Phe684Ile)
c.1990T>A (p.Phe664Ile)
c.1290T>A
c.2062T>A (p.Phe688Ile)
c.2023T>A (p.Phe675Ile)
c.1069T>A (p.Phe357Ile)
c.2161T>A (p.Phe721Ile)
c.2101T>A (p.Phe701Ile)
c.1624T>A (p.Phe542Ile)
c.1249T>A (p.Phe417Ile)
3g.53723889T>CCA353238062CACNA1Dc.2050T>C (p.Phe684Leu)
c.1990T>C (p.Phe664Leu)
c.1290T>C
c.2062T>C (p.Phe688Leu)
c.2023T>C (p.Phe675Leu)
c.1069T>C (p.Phe357Leu)
c.2161T>C (p.Phe721Leu)
c.2101T>C (p.Phe701Leu)
c.1624T>C (p.Phe542Leu)
c.1249T>C (p.Phe417Leu)
3g.53723889T>GCA353238063CACNA1Dc.2050T>G (p.Phe684Val)
c.1990T>G (p.Phe664Val)
c.1290T>G
c.2062T>G (p.Phe688Val)
c.2023T>G (p.Phe675Val)
c.1069T>G (p.Phe357Val)
c.2161T>G (p.Phe721Val)
c.2101T>G (p.Phe701Val)
c.1624T>G (p.Phe542Val)
c.1249T>G (p.Phe417Val)
3g.53723890T>ACA353238066CACNA1Dc.2051T>A (p.Phe684Tyr)
c.1991T>A (p.Phe664Tyr)
c.1291T>A
c.2063T>A (p.Phe688Tyr)
c.2024T>A (p.Phe675Tyr)
c.1070T>A (p.Phe357Tyr)
c.2162T>A (p.Phe721Tyr)
c.2102T>A (p.Phe701Tyr)
c.1625T>A (p.Phe542Tyr)
c.1250T>A (p.Phe417Tyr)
3g.53723890T>CCA353238065CACNA1Dc.2051T>C (p.Phe684Ser)
c.1991T>C (p.Phe664Ser)
c.1291T>C
c.2063T>C (p.Phe688Ser)
c.2024T>C (p.Phe675Ser)
c.1070T>C (p.Phe357Ser)
c.2162T>C (p.Phe721Ser)
c.2102T>C (p.Phe701Ser)
c.1625T>C (p.Phe542Ser)
c.1250T>C (p.Phe417Ser)
3g.53723890T>GCA353238064CACNA1Dc.2051T>G (p.Phe684Cys)
c.1991T>G (p.Phe664Cys)
c.1291T>G
c.2063T>G (p.Phe688Cys)
c.2024T>G (p.Phe675Cys)
c.1070T>G (p.Phe357Cys)
c.2162T>G (p.Phe721Cys)
c.2102T>G (p.Phe701Cys)
c.1625T>G (p.Phe542Cys)
c.1250T>G (p.Phe417Cys)
3g.53723891T>ACA353238067CACNA1Dc.2052T>A (p.Phe684Leu)
c.1992T>A (p.Phe664Leu)
c.1292T>A
c.2064T>A (p.Phe688Leu)
c.2025T>A (p.Phe675Leu)
c.1071T>A (p.Phe357Leu)
c.2163T>A (p.Phe721Leu)
c.2103T>A (p.Phe701Leu)
c.1626T>A (p.Phe542Leu)
c.1251T>A (p.Phe417Leu)
3g.53723891T>CCA433895637CACNA1Dc.2052T>C (p.Phe684=)
c.1992T>C (p.Phe664=)
c.1292T>C
c.2064T>C (p.Phe688=)
c.2025T>C (p.Phe675=)
c.1071T>C (p.Phe357=)
c.2163T>C (p.Phe721=)
c.2103T>C (p.Phe701=)
c.1626T>C (p.Phe542=)
c.1251T>C (p.Phe417=)
 gnomAD v4
3g.53723891T>GCA353238068CACNA1Dc.2052T>G (p.Phe684Leu)
c.1992T>G (p.Phe664Leu)
c.1292T>G
c.2064T>G (p.Phe688Leu)
c.2025T>G (p.Phe675Leu)
c.1071T>G (p.Phe357Leu)
c.2163T>G (p.Phe721Leu)
c.2103T>G (p.Phe701Leu)
c.1626T>G (p.Phe542Leu)
c.1251T>G (p.Phe417Leu)
3g.53723892T>ACA353238069CACNA1Dc.2053T>A (p.Ser685Thr)
c.1993T>A (p.Ser665Thr)
c.1293T>A
c.2065T>A (p.Ser689Thr)
c.2026T>A (p.Ser676Thr)
c.1072T>A (p.Ser358Thr)
c.2164T>A (p.Ser722Thr)
c.2104T>A (p.Ser702Thr)
c.1627T>A (p.Ser543Thr)
c.1252T>A (p.Ser418Thr)
3g.53723892T>CCA353238070CACNA1Dc.2053T>C (p.Ser685Pro)
c.1993T>C (p.Ser665Pro)
c.1293T>C
c.2065T>C (p.Ser689Pro)
c.2026T>C (p.Ser676Pro)
c.1072T>C (p.Ser358Pro)
c.2164T>C (p.Ser722Pro)
c.2104T>C (p.Ser702Pro)
c.1627T>C (p.Ser543Pro)
c.1252T>C (p.Ser418Pro)
3g.53723892T>GCA353238071CACNA1Dc.2053T>G (p.Ser685Ala)
c.1993T>G (p.Ser665Ala)
c.1293T>G
c.2065T>G (p.Ser689Ala)
c.2026T>G (p.Ser676Ala)
c.1072T>G (p.Ser358Ala)
c.2164T>G (p.Ser722Ala)
c.2104T>G (p.Ser702Ala)
c.1627T>G (p.Ser543Ala)
c.1252T>G (p.Ser418Ala)
3g.53723893C>ACA353238072CACNA1Dc.2054C>A (p.Ser685Tyr)
c.1994C>A (p.Ser665Tyr)
c.1294C>A
c.2066C>A (p.Ser689Tyr)
c.2027C>A (p.Ser676Tyr)
c.1073C>A (p.Ser358Tyr)
c.2165C>A (p.Ser722Tyr)
c.2105C>A (p.Ser702Tyr)
c.1628C>A (p.Ser543Tyr)
c.1253C>A (p.Ser418Tyr)
3g.53723893C>GCA353238073CACNA1Dc.2054C>G (p.Ser685Cys)
c.1994C>G (p.Ser665Cys)
c.1294C>G
c.2066C>G (p.Ser689Cys)
c.2027C>G (p.Ser676Cys)
c.1073C>G (p.Ser358Cys)
c.2165C>G (p.Ser722Cys)
c.2105C>G (p.Ser702Cys)
c.1628C>G (p.Ser543Cys)
c.1253C>G (p.Ser418Cys)
3g.53723893C>TCA353238074CACNA1Dc.2054C>T (p.Ser685Phe)
c.1994C>T (p.Ser665Phe)
c.1294C>T
c.2066C>T (p.Ser689Phe)
c.2027C>T (p.Ser676Phe)
c.1073C>T (p.Ser358Phe)
c.2165C>T (p.Ser722Phe)
c.2105C>T (p.Ser702Phe)
c.1628C>T (p.Ser543Phe)
c.1253C>T (p.Ser418Phe)
 gnomAD v4
3g.53723894C>ACA433895640CACNA1Dc.2055C>A (p.Ser685=)
c.1995C>A (p.Ser665=)
c.1295C>A
c.2067C>A (p.Ser689=)
c.2028C>A (p.Ser676=)
c.1074C>A (p.Ser358=)
c.2166C>A (p.Ser722=)
c.2106C>A (p.Ser702=)
c.1629C>A (p.Ser543=)
c.1254C>A (p.Ser418=)
3g.53723894C>GCA433895639CACNA1Dc.2055C>G (p.Ser685=)
c.1995C>G (p.Ser665=)
c.1295C>G
c.2067C>G (p.Ser689=)
c.2028C>G (p.Ser676=)
c.1074C>G (p.Ser358=)
c.2166C>G (p.Ser722=)
c.2106C>G (p.Ser702=)
c.1629C>G (p.Ser543=)
c.1254C>G (p.Ser418=)
3g.53723894C>TCA433895638CACNA1Dc.2055C>T (p.Ser685=)
c.1995C>T (p.Ser665=)
c.1295C>T
c.2067C>T (p.Ser689=)
c.2028C>T (p.Ser676=)
c.1074C>T (p.Ser358=)
c.2166C>T (p.Ser722=)
c.2106C>T (p.Ser702=)
c.1629C>T (p.Ser543=)
c.1254C>T (p.Ser418=)
3g.53723895T>ACA353238075CACNA1Dc.2056T>A (p.Leu686Met)
c.1996T>A (p.Leu666Met)
c.1296T>A
c.2068T>A (p.Leu690Met)
c.2029T>A (p.Leu677Met)
c.1075T>A (p.Leu359Met)
c.2167T>A (p.Leu723Met)
c.2107T>A (p.Leu703Met)
c.1630T>A (p.Leu544Met)
c.1255T>A (p.Leu419Met)
3g.53723895T>CCA433895641CACNA1Dc.2056T>C (p.Leu686=)
c.1996T>C (p.Leu666=)
c.1296T>C
c.2068T>C (p.Leu690=)
c.2029T>C (p.Leu677=)
c.1075T>C (p.Leu359=)
c.2167T>C (p.Leu723=)
c.2107T>C (p.Leu703=)
c.1630T>C (p.Leu544=)
c.1255T>C (p.Leu419=)
3g.53723895T>GCA353238076CACNA1Dc.2056T>G (p.Leu686Val)
c.1996T>G (p.Leu666Val)
c.1296T>G
c.2068T>G (p.Leu690Val)
c.2029T>G (p.Leu677Val)
c.1075T>G (p.Leu359Val)
c.2167T>G (p.Leu723Val)
c.2107T>G (p.Leu703Val)
c.1630T>G (p.Leu544Val)
c.1255T>G (p.Leu419Val)
3g.53723896T>ACA353238077CACNA1Dc.2057T>A (p.Leu686Ter)
c.1997T>A (p.Leu666Ter)
c.1297T>A
c.2069T>A (p.Leu690Ter)
c.2030T>A (p.Leu677Ter)
c.1076T>A (p.Leu359Ter)
c.2168T>A (p.Leu723Ter)
c.2108T>A (p.Leu703Ter)
c.1631T>A (p.Leu544Ter)
c.1256T>A (p.Leu419Ter)
3g.53723896T>CCA353238078CACNA1Dc.2057T>C (p.Leu686Ser)
c.1997T>C (p.Leu666Ser)
c.1297T>C
c.2069T>C (p.Leu690Ser)
c.2030T>C (p.Leu677Ser)
c.1076T>C (p.Leu359Ser)
c.2168T>C (p.Leu723Ser)
c.2108T>C (p.Leu703Ser)
c.1631T>C (p.Leu544Ser)
c.1256T>C (p.Leu419Ser)
3g.53723896T>GCA353238079CACNA1Dc.2057T>G (p.Leu686Trp)
c.1997T>G (p.Leu666Trp)
c.1297T>G
c.2069T>G (p.Leu690Trp)
c.2030T>G (p.Leu677Trp)
c.1076T>G (p.Leu359Trp)
c.2168T>G (p.Leu723Trp)
c.2108T>G (p.Leu703Trp)
c.1631T>G (p.Leu544Trp)
c.1256T>G (p.Leu419Trp)
3g.53723897G>ACA2454110CACNA1Dc.2058G>A (p.Leu686=)
c.1998G>A (p.Leu666=)
c.1298G>A
c.2070G>A (p.Leu690=)
c.2031G>A (p.Leu677=)
c.1077G>A (p.Leu359=)
c.2169G>A (p.Leu723=)
c.2109G>A (p.Leu703=)
c.1632G>A (p.Leu544=)
c.1257G>A (p.Leu419=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53723897G>CCA353238081CACNA1Dc.2058G>C (p.Leu686Phe)
c.1998G>C (p.Leu666Phe)
c.1298G>C
c.2070G>C (p.Leu690Phe)
c.2031G>C (p.Leu677Phe)
c.1077G>C (p.Leu359Phe)
c.2169G>C (p.Leu723Phe)
c.2109G>C (p.Leu703Phe)
c.1632G>C (p.Leu544Phe)
c.1257G>C (p.Leu419Phe)
3g.53723897G=CA1365449714CACNA1Dc.2058G= (p.Leu686=)
c.1998G= (p.Leu666=)
c.1298G=
c.2070G= (p.Leu690=)
c.2031G= (p.Leu677=)
c.1077G= (p.Leu359=)
c.2169G= (p.Leu723=)
c.2109G= (p.Leu703=)
c.1632G= (p.Leu544=)
c.1257G= (p.Leu419=)
3g.53723897G>TCA353238080CACNA1Dc.2058G>T (p.Leu686Phe)
c.1998G>T (p.Leu666Phe)
c.1298G>T
c.2070G>T (p.Leu690Phe)
c.2031G>T (p.Leu677Phe)
c.1077G>T (p.Leu359Phe)
c.2169G>T (p.Leu723Phe)
c.2109G>T (p.Leu703Phe)
c.1632G>T (p.Leu544Phe)
c.1257G>T (p.Leu419Phe)
3g.53723898C>ACA353238083CACNA1Dc.2059C>A (p.Leu687Ile)
c.1999C>A (p.Leu667Ile)
c.1299C>A
c.2071C>A (p.Leu691Ile)
c.2032C>A (p.Leu678Ile)
c.1078C>A (p.Leu360Ile)
c.2170C>A (p.Leu724Ile)
c.2110C>A (p.Leu704Ile)
c.1633C>A (p.Leu545Ile)
c.1258C>A (p.Leu420Ile)
3g.53723898C>GCA353238082CACNA1Dc.2059C>G (p.Leu687Val)
c.1999C>G (p.Leu667Val)
c.1299C>G
c.2071C>G (p.Leu691Val)
c.2032C>G (p.Leu678Val)
c.1078C>G (p.Leu360Val)
c.2170C>G (p.Leu724Val)
c.2110C>G (p.Leu704Val)
c.1633C>G (p.Leu545Val)
c.1258C>G (p.Leu420Val)
3g.53723898C>TCA353238084CACNA1Dc.2059C>T (p.Leu687Phe)
c.1999C>T (p.Leu667Phe)
c.1299C>T
c.2071C>T (p.Leu691Phe)
c.2032C>T (p.Leu678Phe)
c.1078C>T (p.Leu360Phe)
c.2170C>T (p.Leu724Phe)
c.2110C>T (p.Leu704Phe)
c.1633C>T (p.Leu545Phe)
c.1258C>T (p.Leu420Phe)
3g.53723899T>ACA353238085CACNA1Dc.2060T>A (p.Leu687His)
c.2000T>A (p.Leu667His)
c.1300T>A
c.2072T>A (p.Leu691His)
c.2033T>A (p.Leu678His)
c.1079T>A (p.Leu360His)
c.2171T>A (p.Leu724His)
c.2111T>A (p.Leu704His)
c.1634T>A (p.Leu545His)
c.1259T>A (p.Leu420His)
3g.53723899T>CCA353238087CACNA1Dc.2060T>C (p.Leu687Pro)
c.2000T>C (p.Leu667Pro)
c.1300T>C
c.2072T>C (p.Leu691Pro)
c.2033T>C (p.Leu678Pro)
c.1079T>C (p.Leu360Pro)
c.2171T>C (p.Leu724Pro)
c.2111T>C (p.Leu704Pro)
c.1634T>C (p.Leu545Pro)
c.1259T>C (p.Leu420Pro)
3g.53723899T>GCA353238086CACNA1Dc.2060T>G (p.Leu687Arg)
c.2000T>G (p.Leu667Arg)
c.1300T>G
c.2072T>G (p.Leu691Arg)
c.2033T>G (p.Leu678Arg)
c.1079T>G (p.Leu360Arg)
c.2171T>G (p.Leu724Arg)
c.2111T>G (p.Leu704Arg)
c.1634T>G (p.Leu545Arg)
c.1259T>G (p.Leu420Arg)
3g.53723900T>ACA433895643CACNA1Dc.2061T>A (p.Leu687=)
c.2001T>A (p.Leu667=)
c.1301T>A
c.2073T>A (p.Leu691=)
c.2034T>A (p.Leu678=)
c.1080T>A (p.Leu360=)
c.2172T>A (p.Leu724=)
c.2112T>A (p.Leu704=)
c.1635T>A (p.Leu545=)
c.1260T>A (p.Leu420=)
3g.53723900T>CCA433895644CACNA1Dc.2061T>C (p.Leu687=)
c.2001T>C (p.Leu667=)
c.1301T>C
c.2073T>C (p.Leu691=)
c.2034T>C (p.Leu678=)
c.1080T>C (p.Leu360=)
c.2172T>C (p.Leu724=)
c.2112T>C (p.Leu704=)
c.1635T>C (p.Leu545=)
c.1260T>C (p.Leu420=)
3g.53723900T>GCA433895645CACNA1Dc.2061T>G (p.Leu687=)
c.2001T>G (p.Leu667=)
c.1301T>G
c.2073T>G (p.Leu691=)
c.2034T>G (p.Leu678=)
c.1080T>G (p.Leu360=)
c.2172T>G (p.Leu724=)
c.2112T>G (p.Leu704=)
c.1635T>G (p.Leu545=)
c.1260T>G (p.Leu420=)

Number of alleles fetched