| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.53723797G>A | CA353237773 | CACNA1D | c.1958G>A (p.Trp653Ter) c.1898G>A (p.Trp633Ter) c.1198G>A c.1970G>A (p.Trp657Ter) c.1931G>A (p.Trp644Ter) c.977G>A (p.Trp326Ter) c.2069G>A (p.Trp690Ter) c.2009G>A (p.Trp670Ter) c.1532G>A (p.Trp511Ter) c.1157G>A (p.Trp386Ter) | |
| 3 | g.53723797G>C | CA353237771 | CACNA1D | c.1958G>C (p.Trp653Ser) c.1898G>C (p.Trp633Ser) c.1198G>C c.1970G>C (p.Trp657Ser) c.1931G>C (p.Trp644Ser) c.977G>C (p.Trp326Ser) c.2069G>C (p.Trp690Ser) c.2009G>C (p.Trp670Ser) c.1532G>C (p.Trp511Ser) c.1157G>C (p.Trp386Ser) | |
| 3 | g.53723797G>T | CA353237769 | CACNA1D | c.1958G>T (p.Trp653Leu) c.1898G>T (p.Trp633Leu) c.1198G>T c.1970G>T (p.Trp657Leu) c.1931G>T (p.Trp644Leu) c.977G>T (p.Trp326Leu) c.2069G>T (p.Trp690Leu) c.2009G>T (p.Trp670Leu) c.1532G>T (p.Trp511Leu) c.1157G>T (p.Trp386Leu) | |
| 3 | g.53723798G>A | CA353237776 | CACNA1D | c.1959G>A (p.Trp653Ter) c.1899G>A (p.Trp633Ter) c.1199G>A c.1971G>A (p.Trp657Ter) c.1932G>A (p.Trp644Ter) c.978G>A (p.Trp326Ter) c.2070G>A (p.Trp690Ter) c.2010G>A (p.Trp670Ter) c.1533G>A (p.Trp511Ter) c.1158G>A (p.Trp386Ter) | |
| 3 | g.53723798G>C | CA353237779 | CACNA1D | c.1959G>C (p.Trp653Cys) c.1899G>C (p.Trp633Cys) c.1199G>C c.1971G>C (p.Trp657Cys) c.1932G>C (p.Trp644Cys) c.978G>C (p.Trp326Cys) c.2070G>C (p.Trp690Cys) c.2010G>C (p.Trp670Cys) c.1533G>C (p.Trp511Cys) c.1158G>C (p.Trp386Cys) | gnomAD v4 |
| 3 | g.53723798G>T | CA353237781 | CACNA1D | c.1959G>T (p.Trp653Cys) c.1899G>T (p.Trp633Cys) c.1199G>T c.1971G>T (p.Trp657Cys) c.1932G>T (p.Trp644Cys) c.978G>T (p.Trp326Cys) c.2070G>T (p.Trp690Cys) c.2010G>T (p.Trp670Cys) c.1533G>T (p.Trp511Cys) c.1158G>T (p.Trp386Cys) | |
| 3 | g.53723799A>C | CA353237784 | CACNA1D | c.1960A>C (p.Thr654Pro) c.1900A>C (p.Thr634Pro) c.1200A>C c.1972A>C (p.Thr658Pro) c.1933A>C (p.Thr645Pro) c.979A>C (p.Thr327Pro) c.2071A>C (p.Thr691Pro) c.2011A>C (p.Thr671Pro) c.1534A>C (p.Thr512Pro) c.1159A>C (p.Thr387Pro) | |
| 3 | g.53723799A>G | CA353237786 | CACNA1D | c.1960A>G (p.Thr654Ala) c.1900A>G (p.Thr634Ala) c.1200A>G c.1972A>G (p.Thr658Ala) c.1933A>G (p.Thr645Ala) c.979A>G (p.Thr327Ala) c.2071A>G (p.Thr691Ala) c.2011A>G (p.Thr671Ala) c.1534A>G (p.Thr512Ala) c.1159A>G (p.Thr387Ala) | gnomAD v4 COSMIC COSMIC |
| 3 | g.53723799A>T | CA353237787 | CACNA1D | c.1960A>T (p.Thr654Ser) c.1900A>T (p.Thr634Ser) c.1200A>T c.1972A>T (p.Thr658Ser) c.1933A>T (p.Thr645Ser) c.979A>T (p.Thr327Ser) c.2071A>T (p.Thr691Ser) c.2011A>T (p.Thr671Ser) c.1534A>T (p.Thr512Ser) c.1159A>T (p.Thr387Ser) | |
| 3 | g.53723800C>A | CA353237790 | CACNA1D | c.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) | |
| 3 | g.53723800C>G | CA353237792 | CACNA1D | c.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) | |
| 3 | g.53723800C>T | CA353237794 | CACNA1D | c.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 |
| 3 | g.53723801T>A | CA433895423 | CACNA1D | c.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=) | |
| 3 | g.53723801T>C | CA433895424 | CACNA1D | c.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=) | |
| 3 | g.53723801T>G | CA433895426 | CACNA1D | c.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=) | |
| 3 | g.53723802T>A | CA353237797 | CACNA1D | c.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) | |
| 3 | g.53723802T>C | CA353237799 | CACNA1D | c.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) | |
| 3 | g.53723802T>G | CA353237802 | CACNA1D | c.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) | |
| 3 | g.53723803C>A | CA353237808 | CACNA1D | c.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) | |
| 3 | g.53723803C= | CA1365449689 | CACNA1D | c.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=) | |
| 3 | g.53723803C>G | CA353237806 | CACNA1D | c.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 |
| 3 | g.53723803C>T | CA74848420 | CACNA1D | c.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 |
| 3 | g.53723804C>A | CA433895429 | CACNA1D | c.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=) | |
| 3 | g.53723804C= | CA1365449690 | CACNA1D | c.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=) | |
| 3 | g.53723804C>G | CA2454097 | CACNA1D | c.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 |
| 3 | g.53723804C>T | CA433895432 | CACNA1D | c.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=) | |
| 3 | g.53723805C>A | CA353237812 | CACNA1D | c.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) | |
| 3 | g.53723805C>G | CA353237815 | CACNA1D | c.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) | |
| 3 | g.53723805C>T | CA433895438 | CACNA1D | c.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=) | |
| 3 | g.53723806T>A | CA353237818 | CACNA1D | c.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) | |
| 3 | g.53723806T>C | CA353237820 | CACNA1D | c.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) | |
| 3 | g.53723806T>G | CA353237822 | CACNA1D | c.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) | |
| 3 | g.53723807G>A | CA433895440 | CACNA1D | c.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=) | |
| 3 | g.53723807G>C | CA433895441 | CACNA1D | c.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=) | |
| 3 | g.53723807G>T | CA433895443 | CACNA1D | c.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=) | |
| 3 | g.53723808A>C | CA353237825 | CACNA1D | c.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) | |
| 3 | g.53723808A>G | CA353237826 | CACNA1D | c.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) | |
| 3 | g.53723808A>T | CA353237827 | CACNA1D | c.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) | |
| 3 | g.53723809G>A | CA353237829 | CACNA1D | c.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) | |
| 3 | g.53723809G>C | CA353237831 | CACNA1D | c.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) | |
| 3 | g.53723809G>T | CA353237833 | CACNA1D | c.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) | |
| 3 | g.53723810C>A | CA353237838 | CACNA1D | c.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 |
| 3 | g.53723810C>G | CA353237836 | CACNA1D | c.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) | |
| 3 | g.53723810C>T | CA433895446 | CACNA1D | c.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=) | |
| 3 | g.53723811A>C | CA353237841 | CACNA1D | c.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) | |
| 3 | g.53723811A>G | CA353237842 | CACNA1D | c.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 |
| 3 | g.53723811A>T | CA353237844 | CACNA1D | c.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) | |
| 3 | g.53723812A>C | CA353237846 | CACNA1D | c.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) | |
| 3 | g.53723812A>G | CA353237848 | CACNA1D | c.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) | |
| 3 | g.53723812A>T | CA353237850 | CACNA1D | c.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) |