Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.53811332A>C | CA353259578 | CACNA1D | c.6472A>C (p.Ser2158Arg) n.1801A>C n.3411A>C n.1847A>C c.6412A>C (p.Ser2138Arg) c.6340A>C (p.Ser2114Arg) c.2533A>C c.6367A>C (p.Ser2123Arg) n.1839A>C c.6439A>C (p.Ser2147Arg) c.5491A>C (p.Ser1831Arg) c.6667A>C (p.Ser2223Arg) c.6556A>C (p.Ser2186Arg) c.6478A>C (p.Ser2160Arg) c.6130A>C (p.Ser2044Arg) c.5755A>C (p.Ser1919Arg) c.6562A>C (p.Ser2188Arg) c.6664A>C (p.Ser2222Arg) c.6640A>C (p.Ser2214Arg) c.6607A>C (p.Ser2203Arg) c.6583A>C (p.Ser2195Arg) c.6538A>C (p.Ser2180Arg) | |
3 | g.53811332A>G | CA353259580 | CACNA1D | c.6472A>G (p.Ser2158Gly) n.1801A>G n.3411A>G n.1847A>G c.6412A>G (p.Ser2138Gly) c.6340A>G (p.Ser2114Gly) c.2533A>G c.6367A>G (p.Ser2123Gly) n.1839A>G c.6439A>G (p.Ser2147Gly) c.5491A>G (p.Ser1831Gly) c.6667A>G (p.Ser2223Gly) c.6556A>G (p.Ser2186Gly) c.6478A>G (p.Ser2160Gly) c.6130A>G (p.Ser2044Gly) c.5755A>G (p.Ser1919Gly) c.6562A>G (p.Ser2188Gly) c.6664A>G (p.Ser2222Gly) c.6640A>G (p.Ser2214Gly) c.6607A>G (p.Ser2203Gly) c.6583A>G (p.Ser2195Gly) c.6538A>G (p.Ser2180Gly) | |
3 | g.53811332A>T | CA353259577 | CACNA1D | c.6472A>T (p.Ser2158Cys) n.1801A>T n.3411A>T n.1847A>T c.6412A>T (p.Ser2138Cys) c.6340A>T (p.Ser2114Cys) c.2533A>T c.6367A>T (p.Ser2123Cys) n.1839A>T c.6439A>T (p.Ser2147Cys) c.5491A>T (p.Ser1831Cys) c.6667A>T (p.Ser2223Cys) c.6556A>T (p.Ser2186Cys) c.6478A>T (p.Ser2160Cys) c.6130A>T (p.Ser2044Cys) c.5755A>T (p.Ser1919Cys) c.6562A>T (p.Ser2188Cys) c.6664A>T (p.Ser2222Cys) c.6640A>T (p.Ser2214Cys) c.6607A>T (p.Ser2203Cys) c.6583A>T (p.Ser2195Cys) c.6538A>T (p.Ser2180Cys) | |
3 | g.53811333G>A | CA353259583 | CACNA1D | c.6473G>A (p.Ser2158Asn) n.1802G>A n.3412G>A n.1848G>A c.6413G>A (p.Ser2138Asn) c.6341G>A (p.Ser2114Asn) c.2534G>A c.6368G>A (p.Ser2123Asn) n.1840G>A c.6440G>A (p.Ser2147Asn) c.5492G>A (p.Ser1831Asn) c.6668G>A (p.Ser2223Asn) c.6557G>A (p.Ser2186Asn) c.6479G>A (p.Ser2160Asn) c.6131G>A (p.Ser2044Asn) c.5756G>A (p.Ser1919Asn) c.6563G>A (p.Ser2188Asn) c.6665G>A (p.Ser2222Asn) c.6641G>A (p.Ser2214Asn) c.6608G>A (p.Ser2203Asn) c.6584G>A (p.Ser2195Asn) c.6539G>A (p.Ser2180Asn) | |
3 | g.53811333G>C | CA353259585 | CACNA1D | c.6473G>C (p.Ser2158Thr) n.1802G>C n.3412G>C n.1848G>C c.6413G>C (p.Ser2138Thr) c.6341G>C (p.Ser2114Thr) c.2534G>C c.6368G>C (p.Ser2123Thr) n.1840G>C c.6440G>C (p.Ser2147Thr) c.5492G>C (p.Ser1831Thr) c.6668G>C (p.Ser2223Thr) c.6557G>C (p.Ser2186Thr) c.6479G>C (p.Ser2160Thr) c.6131G>C (p.Ser2044Thr) c.5756G>C (p.Ser1919Thr) c.6563G>C (p.Ser2188Thr) c.6665G>C (p.Ser2222Thr) c.6641G>C (p.Ser2214Thr) c.6608G>C (p.Ser2203Thr) c.6584G>C (p.Ser2195Thr) c.6539G>C (p.Ser2180Thr) | dbSNP |
3 | g.53811333G= | CA1365489041 | CACNA1D | c.6473G= (p.Ser2158=) n.1802G= n.3412G= n.1848G= c.6413G= (p.Ser2138=) c.6341G= (p.Ser2114=) c.2534G= c.6368G= (p.Ser2123=) n.1840G= c.6440G= (p.Ser2147=) c.5492G= (p.Ser1831=) c.6668G= (p.Ser2223=) c.6557G= (p.Ser2186=) c.6479G= (p.Ser2160=) c.6131G= (p.Ser2044=) c.5756G= (p.Ser1919=) c.6563G= (p.Ser2188=) c.6665G= (p.Ser2222=) c.6641G= (p.Ser2214=) c.6608G= (p.Ser2203=) c.6584G= (p.Ser2195=) c.6539G= (p.Ser2180=) | |
3 | g.53811333G>T | CA353259588 | CACNA1D | c.6473G>T (p.Ser2158Ile) n.1802G>T n.3412G>T n.1848G>T c.6413G>T (p.Ser2138Ile) c.6341G>T (p.Ser2114Ile) c.2534G>T c.6368G>T (p.Ser2123Ile) n.1840G>T c.6440G>T (p.Ser2147Ile) c.5492G>T (p.Ser1831Ile) c.6668G>T (p.Ser2223Ile) c.6557G>T (p.Ser2186Ile) c.6479G>T (p.Ser2160Ile) c.6131G>T (p.Ser2044Ile) c.5756G>T (p.Ser1919Ile) c.6563G>T (p.Ser2188Ile) c.6665G>T (p.Ser2222Ile) c.6641G>T (p.Ser2214Ile) c.6608G>T (p.Ser2203Ile) c.6584G>T (p.Ser2195Ile) c.6539G>T (p.Ser2180Ile) | |
3 | g.53811334C>A | CA353259592 | CACNA1D | c.6474C>A (p.Ser2158Arg) n.1803C>A n.3413C>A n.1849C>A c.6414C>A (p.Ser2138Arg) c.6342C>A (p.Ser2114Arg) c.2535C>A c.6369C>A (p.Ser2123Arg) n.1841C>A c.6441C>A (p.Ser2147Arg) c.5493C>A (p.Ser1831Arg) c.6669C>A (p.Ser2223Arg) c.6558C>A (p.Ser2186Arg) c.6480C>A (p.Ser2160Arg) c.6132C>A (p.Ser2044Arg) c.5757C>A (p.Ser1919Arg) c.6564C>A (p.Ser2188Arg) c.6666C>A (p.Ser2222Arg) c.6642C>A (p.Ser2214Arg) c.6609C>A (p.Ser2203Arg) c.6585C>A (p.Ser2195Arg) c.6540C>A (p.Ser2180Arg) | |
3 | g.53811334C= | CA1365489042 | CACNA1D | c.6474C= (p.Ser2158=) n.1803C= n.3413C= n.1849C= c.6414C= (p.Ser2138=) c.6342C= (p.Ser2114=) c.2535C= c.6369C= (p.Ser2123=) n.1841C= c.6441C= (p.Ser2147=) c.5493C= (p.Ser1831=) c.6669C= (p.Ser2223=) c.6558C= (p.Ser2186=) c.6480C= (p.Ser2160=) c.6132C= (p.Ser2044=) c.5757C= (p.Ser1919=) c.6564C= (p.Ser2188=) c.6666C= (p.Ser2222=) c.6642C= (p.Ser2214=) c.6609C= (p.Ser2203=) c.6585C= (p.Ser2195=) c.6540C= (p.Ser2180=) | |
3 | g.53811334C>G | CA353259594 | CACNA1D | c.6474C>G (p.Ser2158Arg) n.1803C>G n.3413C>G n.1849C>G c.6414C>G (p.Ser2138Arg) c.6342C>G (p.Ser2114Arg) c.2535C>G c.6369C>G (p.Ser2123Arg) n.1841C>G c.6441C>G (p.Ser2147Arg) c.5493C>G (p.Ser1831Arg) c.6669C>G (p.Ser2223Arg) c.6558C>G (p.Ser2186Arg) c.6480C>G (p.Ser2160Arg) c.6132C>G (p.Ser2044Arg) c.5757C>G (p.Ser1919Arg) c.6564C>G (p.Ser2188Arg) c.6666C>G (p.Ser2222Arg) c.6642C>G (p.Ser2214Arg) c.6609C>G (p.Ser2203Arg) c.6585C>G (p.Ser2195Arg) c.6540C>G (p.Ser2180Arg) | |
3 | g.53811334C>T | CA2455444 | CACNA1D | c.6474C>T (p.Ser2158=) n.1803C>T n.3413C>T n.1849C>T c.6414C>T (p.Ser2138=) c.6342C>T (p.Ser2114=) c.2535C>T c.6369C>T (p.Ser2123=) n.1841C>T c.6441C>T (p.Ser2147=) c.5493C>T (p.Ser1831=) c.6669C>T (p.Ser2223=) c.6558C>T (p.Ser2186=) c.6480C>T (p.Ser2160=) c.6132C>T (p.Ser2044=) c.5757C>T (p.Ser1919=) c.6564C>T (p.Ser2188=) c.6666C>T (p.Ser2222=) c.6642C>T (p.Ser2214=) c.6609C>T (p.Ser2203=) c.6585C>T (p.Ser2195=) c.6540C>T (p.Ser2180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811335G>A | CA353259599 | CACNA1D | c.6475G>A (p.Asp2159Asn) n.1804G>A n.3414G>A n.1850G>A c.6415G>A (p.Asp2139Asn) c.6343G>A (p.Asp2115Asn) c.2536G>A c.6370G>A (p.Asp2124Asn) n.1842G>A c.6442G>A (p.Asp2148Asn) c.5494G>A (p.Asp1832Asn) c.6670G>A (p.Asp2224Asn) c.6559G>A (p.Asp2187Asn) c.6481G>A (p.Asp2161Asn) c.6133G>A (p.Asp2045Asn) c.5758G>A (p.Asp1920Asn) c.6565G>A (p.Asp2189Asn) c.6667G>A (p.Asp2223Asn) c.6643G>A (p.Asp2215Asn) c.6610G>A (p.Asp2204Asn) c.6586G>A (p.Asp2196Asn) c.6541G>A (p.Asp2181Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.53811335G>C | CA353259601 | CACNA1D | c.6475G>C (p.Asp2159His) n.1804G>C n.3414G>C n.1850G>C c.6415G>C (p.Asp2139His) c.6343G>C (p.Asp2115His) c.2536G>C c.6370G>C (p.Asp2124His) n.1842G>C c.6442G>C (p.Asp2148His) c.5494G>C (p.Asp1832His) c.6670G>C (p.Asp2224His) c.6559G>C (p.Asp2187His) c.6481G>C (p.Asp2161His) c.6133G>C (p.Asp2045His) c.5758G>C (p.Asp1920His) c.6565G>C (p.Asp2189His) c.6667G>C (p.Asp2223His) c.6643G>C (p.Asp2215His) c.6610G>C (p.Asp2204His) c.6586G>C (p.Asp2196His) c.6541G>C (p.Asp2181His) | |
3 | g.53811335G= | CA1365489043 | CACNA1D | c.6475G= (p.Asp2159=) n.1804G= n.3414G= n.1850G= c.6415G= (p.Asp2139=) c.6343G= (p.Asp2115=) c.2536G= c.6370G= (p.Asp2124=) n.1842G= c.6442G= (p.Asp2148=) c.5494G= (p.Asp1832=) c.6670G= (p.Asp2224=) c.6559G= (p.Asp2187=) c.6481G= (p.Asp2161=) c.6133G= (p.Asp2045=) c.5758G= (p.Asp1920=) c.6565G= (p.Asp2189=) c.6667G= (p.Asp2223=) c.6643G= (p.Asp2215=) c.6610G= (p.Asp2204=) c.6586G= (p.Asp2196=) c.6541G= (p.Asp2181=) | |
3 | g.53811335G>T | CA353259604 | CACNA1D | c.6475G>T (p.Asp2159Tyr) n.1804G>T n.3414G>T n.1850G>T c.6415G>T (p.Asp2139Tyr) c.6343G>T (p.Asp2115Tyr) c.2536G>T c.6370G>T (p.Asp2124Tyr) n.1842G>T c.6442G>T (p.Asp2148Tyr) c.5494G>T (p.Asp1832Tyr) c.6670G>T (p.Asp2224Tyr) c.6559G>T (p.Asp2187Tyr) c.6481G>T (p.Asp2161Tyr) c.6133G>T (p.Asp2045Tyr) c.5758G>T (p.Asp1920Tyr) c.6565G>T (p.Asp2189Tyr) c.6667G>T (p.Asp2223Tyr) c.6643G>T (p.Asp2215Tyr) c.6610G>T (p.Asp2204Tyr) c.6586G>T (p.Asp2196Tyr) c.6541G>T (p.Asp2181Tyr) | |
3 | g.53811336A>C | CA353259607 | CACNA1D | c.6476A>C (p.Asp2159Ala) n.1805A>C n.3415A>C n.1851A>C c.6416A>C (p.Asp2139Ala) c.6344A>C (p.Asp2115Ala) c.2537A>C c.6371A>C (p.Asp2124Ala) n.1843A>C c.6443A>C (p.Asp2148Ala) c.5495A>C (p.Asp1832Ala) c.6671A>C (p.Asp2224Ala) c.6560A>C (p.Asp2187Ala) c.6482A>C (p.Asp2161Ala) c.6134A>C (p.Asp2045Ala) c.5759A>C (p.Asp1920Ala) c.6566A>C (p.Asp2189Ala) c.6668A>C (p.Asp2223Ala) c.6644A>C (p.Asp2215Ala) c.6611A>C (p.Asp2204Ala) c.6587A>C (p.Asp2196Ala) c.6542A>C (p.Asp2181Ala) | |
3 | g.53811336A>G | CA353259610 | CACNA1D | c.6476A>G (p.Asp2159Gly) n.1805A>G n.3415A>G n.1851A>G c.6416A>G (p.Asp2139Gly) c.6344A>G (p.Asp2115Gly) c.2537A>G c.6371A>G (p.Asp2124Gly) n.1843A>G c.6443A>G (p.Asp2148Gly) c.5495A>G (p.Asp1832Gly) c.6671A>G (p.Asp2224Gly) c.6560A>G (p.Asp2187Gly) c.6482A>G (p.Asp2161Gly) c.6134A>G (p.Asp2045Gly) c.5759A>G (p.Asp1920Gly) c.6566A>G (p.Asp2189Gly) c.6668A>G (p.Asp2223Gly) c.6644A>G (p.Asp2215Gly) c.6611A>G (p.Asp2204Gly) c.6587A>G (p.Asp2196Gly) c.6542A>G (p.Asp2181Gly) | |
3 | g.53811336A>T | CA353259612 | CACNA1D | c.6476A>T (p.Asp2159Val) n.1805A>T n.3415A>T n.1851A>T c.6416A>T (p.Asp2139Val) c.6344A>T (p.Asp2115Val) c.2537A>T c.6371A>T (p.Asp2124Val) n.1843A>T c.6443A>T (p.Asp2148Val) c.5495A>T (p.Asp1832Val) c.6671A>T (p.Asp2224Val) c.6560A>T (p.Asp2187Val) c.6482A>T (p.Asp2161Val) c.6134A>T (p.Asp2045Val) c.5759A>T (p.Asp1920Val) c.6566A>T (p.Asp2189Val) c.6668A>T (p.Asp2223Val) c.6644A>T (p.Asp2215Val) c.6611A>T (p.Asp2204Val) c.6587A>T (p.Asp2196Val) c.6542A>T (p.Asp2181Val) | |
3 | g.53811337C>A | CA353259617 | CACNA1D | c.6477C>A (p.Asp2159Glu) n.1806C>A n.3416C>A n.1852C>A c.6417C>A (p.Asp2139Glu) c.6345C>A (p.Asp2115Glu) c.2538C>A c.6372C>A (p.Asp2124Glu) n.1844C>A c.6444C>A (p.Asp2148Glu) c.5496C>A (p.Asp1832Glu) c.6672C>A (p.Asp2224Glu) c.6561C>A (p.Asp2187Glu) c.6483C>A (p.Asp2161Glu) c.6135C>A (p.Asp2045Glu) c.5760C>A (p.Asp1920Glu) c.6567C>A (p.Asp2189Glu) c.6669C>A (p.Asp2223Glu) c.6645C>A (p.Asp2215Glu) c.6612C>A (p.Asp2204Glu) c.6588C>A (p.Asp2196Glu) c.6543C>A (p.Asp2181Glu) | |
3 | g.53811337C= | CA1365489044 | CACNA1D | c.6477C= (p.Asp2159=) n.1806C= n.3416C= n.1852C= c.6417C= (p.Asp2139=) c.6345C= (p.Asp2115=) c.2538C= c.6372C= (p.Asp2124=) n.1844C= c.6444C= (p.Asp2148=) c.5496C= (p.Asp1832=) c.6672C= (p.Asp2224=) c.6561C= (p.Asp2187=) c.6483C= (p.Asp2161=) c.6135C= (p.Asp2045=) c.5760C= (p.Asp1920=) c.6567C= (p.Asp2189=) c.6669C= (p.Asp2223=) c.6645C= (p.Asp2215=) c.6612C= (p.Asp2204=) c.6588C= (p.Asp2196=) c.6543C= (p.Asp2181=) | |
3 | g.53811337C>G | CA353259620 | CACNA1D | c.6477C>G (p.Asp2159Glu) n.1806C>G n.3416C>G n.1852C>G c.6417C>G (p.Asp2139Glu) c.6345C>G (p.Asp2115Glu) c.2538C>G c.6372C>G (p.Asp2124Glu) n.1844C>G c.6444C>G (p.Asp2148Glu) c.5496C>G (p.Asp1832Glu) c.6672C>G (p.Asp2224Glu) c.6561C>G (p.Asp2187Glu) c.6483C>G (p.Asp2161Glu) c.6135C>G (p.Asp2045Glu) c.5760C>G (p.Asp1920Glu) c.6567C>G (p.Asp2189Glu) c.6669C>G (p.Asp2223Glu) c.6645C>G (p.Asp2215Glu) c.6612C>G (p.Asp2204Glu) c.6588C>G (p.Asp2196Glu) c.6543C>G (p.Asp2181Glu) | |
3 | g.53811337C>T | CA2455445 | CACNA1D | c.6477C>T (p.Asp2159=) n.1806C>T n.3416C>T n.1852C>T c.6417C>T (p.Asp2139=) c.6345C>T (p.Asp2115=) c.2538C>T c.6372C>T (p.Asp2124=) n.1844C>T c.6444C>T (p.Asp2148=) c.5496C>T (p.Asp1832=) c.6672C>T (p.Asp2224=) c.6561C>T (p.Asp2187=) c.6483C>T (p.Asp2161=) c.6135C>T (p.Asp2045=) c.5760C>T (p.Asp1920=) c.6567C>T (p.Asp2189=) c.6669C>T (p.Asp2223=) c.6645C>T (p.Asp2215=) c.6612C>T (p.Asp2204=) c.6588C>T (p.Asp2196=) c.6543C>T (p.Asp2181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811338G>A | CA353259623 | CACNA1D | c.6478G>A (p.Glu2160Lys) n.1807G>A n.3417G>A n.1853G>A c.6418G>A (p.Glu2140Lys) c.6346G>A (p.Glu2116Lys) c.2539G>A c.6373G>A (p.Glu2125Lys) n.1845G>A c.6445G>A (p.Glu2149Lys) c.5497G>A (p.Glu1833Lys) c.6673G>A (p.Glu2225Lys) c.6562G>A (p.Glu2188Lys) c.6484G>A (p.Glu2162Lys) c.6136G>A (p.Glu2046Lys) c.5761G>A (p.Glu1921Lys) c.6568G>A (p.Glu2190Lys) c.6670G>A (p.Glu2224Lys) c.6646G>A (p.Glu2216Lys) c.6613G>A (p.Glu2205Lys) c.6589G>A (p.Glu2197Lys) c.6544G>A (p.Glu2182Lys) | gnomAD v4 |
3 | g.53811338G>C | CA353259625 | CACNA1D | c.6478G>C (p.Glu2160Gln) n.1807G>C n.3417G>C n.1853G>C c.6418G>C (p.Glu2140Gln) c.6346G>C (p.Glu2116Gln) c.2539G>C c.6373G>C (p.Glu2125Gln) n.1845G>C c.6445G>C (p.Glu2149Gln) c.5497G>C (p.Glu1833Gln) c.6673G>C (p.Glu2225Gln) c.6562G>C (p.Glu2188Gln) c.6484G>C (p.Glu2162Gln) c.6136G>C (p.Glu2046Gln) c.5761G>C (p.Glu1921Gln) c.6568G>C (p.Glu2190Gln) c.6670G>C (p.Glu2224Gln) c.6646G>C (p.Glu2216Gln) c.6613G>C (p.Glu2205Gln) c.6589G>C (p.Glu2197Gln) c.6544G>C (p.Glu2182Gln) | |
3 | g.53811338G>T | CA353259627 | CACNA1D | c.6478G>T (p.Glu2160Ter) n.1807G>T n.3417G>T n.1853G>T c.6418G>T (p.Glu2140Ter) c.6346G>T (p.Glu2116Ter) c.2539G>T c.6373G>T (p.Glu2125Ter) n.1845G>T c.6445G>T (p.Glu2149Ter) c.5497G>T (p.Glu1833Ter) c.6673G>T (p.Glu2225Ter) c.6562G>T (p.Glu2188Ter) c.6484G>T (p.Glu2162Ter) c.6136G>T (p.Glu2046Ter) c.5761G>T (p.Glu1921Ter) c.6568G>T (p.Glu2190Ter) c.6670G>T (p.Glu2224Ter) c.6646G>T (p.Glu2216Ter) c.6613G>T (p.Glu2205Ter) c.6589G>T (p.Glu2197Ter) c.6544G>T (p.Glu2182Ter) | |
3 | g.53811339A>C | CA353259630 | CACNA1D | c.6479A>C (p.Glu2160Ala) n.1808A>C n.3418A>C n.1854A>C c.6419A>C (p.Glu2140Ala) c.6347A>C (p.Glu2116Ala) c.2540A>C c.6374A>C (p.Glu2125Ala) n.1846A>C c.6446A>C (p.Glu2149Ala) c.5498A>C (p.Glu1833Ala) c.6674A>C (p.Glu2225Ala) c.6563A>C (p.Glu2188Ala) c.6485A>C (p.Glu2162Ala) c.6137A>C (p.Glu2046Ala) c.5762A>C (p.Glu1921Ala) c.6569A>C (p.Glu2190Ala) c.6671A>C (p.Glu2224Ala) c.6647A>C (p.Glu2216Ala) c.6614A>C (p.Glu2205Ala) c.6590A>C (p.Glu2197Ala) c.6545A>C (p.Glu2182Ala) | |
3 | g.53811339A>G | CA353259632 | CACNA1D | c.6479A>G (p.Glu2160Gly) n.1808A>G n.3418A>G n.1854A>G c.6419A>G (p.Glu2140Gly) c.6347A>G (p.Glu2116Gly) c.2540A>G c.6374A>G (p.Glu2125Gly) n.1846A>G c.6446A>G (p.Glu2149Gly) c.5498A>G (p.Glu1833Gly) c.6674A>G (p.Glu2225Gly) c.6563A>G (p.Glu2188Gly) c.6485A>G (p.Glu2162Gly) c.6137A>G (p.Glu2046Gly) c.5762A>G (p.Glu1921Gly) c.6569A>G (p.Glu2190Gly) c.6671A>G (p.Glu2224Gly) c.6647A>G (p.Glu2216Gly) c.6614A>G (p.Glu2205Gly) c.6590A>G (p.Glu2197Gly) c.6545A>G (p.Glu2182Gly) | |
3 | g.53811339A>T | CA353259634 | CACNA1D | c.6479A>T (p.Glu2160Val) n.1808A>T n.3418A>T n.1854A>T c.6419A>T (p.Glu2140Val) c.6347A>T (p.Glu2116Val) c.2540A>T c.6374A>T (p.Glu2125Val) n.1846A>T c.6446A>T (p.Glu2149Val) c.5498A>T (p.Glu1833Val) c.6674A>T (p.Glu2225Val) c.6563A>T (p.Glu2188Val) c.6485A>T (p.Glu2162Val) c.6137A>T (p.Glu2046Val) c.5762A>T (p.Glu1921Val) c.6569A>T (p.Glu2190Val) c.6671A>T (p.Glu2224Val) c.6647A>T (p.Glu2216Val) c.6614A>T (p.Glu2205Val) c.6590A>T (p.Glu2197Val) c.6545A>T (p.Glu2182Val) | |
3 | g.53811340A>C | CA353259637 | CACNA1D | c.6480A>C (p.Glu2160Asp) n.1809A>C n.3419A>C n.1855A>C c.6420A>C (p.Glu2140Asp) c.6348A>C (p.Glu2116Asp) c.2541A>C c.6375A>C (p.Glu2125Asp) n.1847A>C c.6447A>C (p.Glu2149Asp) c.5499A>C (p.Glu1833Asp) c.6675A>C (p.Glu2225Asp) c.6564A>C (p.Glu2188Asp) c.6486A>C (p.Glu2162Asp) c.6138A>C (p.Glu2046Asp) c.5763A>C (p.Glu1921Asp) c.6570A>C (p.Glu2190Asp) c.6672A>C (p.Glu2224Asp) c.6648A>C (p.Glu2216Asp) c.6615A>C (p.Glu2205Asp) c.6591A>C (p.Glu2197Asp) c.6546A>C (p.Glu2182Asp) | |
3 | g.53811340A>G | CA433895818 | CACNA1D | c.6480A>G (p.Glu2160=) n.1809A>G n.3419A>G n.1855A>G c.6420A>G (p.Glu2140=) c.6348A>G (p.Glu2116=) c.2541A>G c.6375A>G (p.Glu2125=) n.1847A>G c.6447A>G (p.Glu2149=) c.5499A>G (p.Glu1833=) c.6675A>G (p.Glu2225=) c.6564A>G (p.Glu2188=) c.6486A>G (p.Glu2162=) c.6138A>G (p.Glu2046=) c.5763A>G (p.Glu1921=) c.6570A>G (p.Glu2190=) c.6672A>G (p.Glu2224=) c.6648A>G (p.Glu2216=) c.6615A>G (p.Glu2205=) c.6591A>G (p.Glu2197=) c.6546A>G (p.Glu2182=) | ClinVar |
3 | g.53811340A>T | CA353259639 | CACNA1D | c.6480A>T (p.Glu2160Asp) n.1809A>T n.3419A>T n.1855A>T c.6420A>T (p.Glu2140Asp) c.6348A>T (p.Glu2116Asp) c.2541A>T c.6375A>T (p.Glu2125Asp) n.1847A>T c.6447A>T (p.Glu2149Asp) c.5499A>T (p.Glu1833Asp) c.6675A>T (p.Glu2225Asp) c.6564A>T (p.Glu2188Asp) c.6486A>T (p.Glu2162Asp) c.6138A>T (p.Glu2046Asp) c.5763A>T (p.Glu1921Asp) c.6570A>T (p.Glu2190Asp) c.6672A>T (p.Glu2224Asp) c.6648A>T (p.Glu2216Asp) c.6615A>T (p.Glu2205Asp) c.6591A>T (p.Glu2197Asp) c.6546A>T (p.Glu2182Asp) | |
3 | g.53811341G>A | CA353259642 | CACNA1D | c.6481G>A (p.Glu2161Lys) n.1810G>A n.3420G>A n.1856G>A c.6421G>A (p.Glu2141Lys) c.6349G>A (p.Glu2117Lys) c.2542G>A c.6376G>A (p.Glu2126Lys) n.1848G>A c.6448G>A (p.Glu2150Lys) c.5500G>A (p.Glu1834Lys) c.6676G>A (p.Glu2226Lys) c.6565G>A (p.Glu2189Lys) c.6487G>A (p.Glu2163Lys) c.6139G>A (p.Glu2047Lys) c.5764G>A (p.Glu1922Lys) c.6571G>A (p.Glu2191Lys) c.6673G>A (p.Glu2225Lys) c.6649G>A (p.Glu2217Lys) c.6616G>A (p.Glu2206Lys) c.6592G>A (p.Glu2198Lys) c.6547G>A (p.Glu2183Lys) | |
3 | g.53811341G>C | CA353259645 | CACNA1D | c.6481G>C (p.Glu2161Gln) n.1810G>C n.3420G>C n.1856G>C c.6421G>C (p.Glu2141Gln) c.6349G>C (p.Glu2117Gln) c.2542G>C c.6376G>C (p.Glu2126Gln) n.1848G>C c.6448G>C (p.Glu2150Gln) c.5500G>C (p.Glu1834Gln) c.6676G>C (p.Glu2226Gln) c.6565G>C (p.Glu2189Gln) c.6487G>C (p.Glu2163Gln) c.6139G>C (p.Glu2047Gln) c.5764G>C (p.Glu1922Gln) c.6571G>C (p.Glu2191Gln) c.6673G>C (p.Glu2225Gln) c.6649G>C (p.Glu2217Gln) c.6616G>C (p.Glu2206Gln) c.6592G>C (p.Glu2198Gln) c.6547G>C (p.Glu2183Gln) | |
3 | g.53811341G>T | CA353259647 | CACNA1D | c.6481G>T (p.Glu2161Ter) n.1810G>T n.3420G>T n.1856G>T c.6421G>T (p.Glu2141Ter) c.6349G>T (p.Glu2117Ter) c.2542G>T c.6376G>T (p.Glu2126Ter) n.1848G>T c.6448G>T (p.Glu2150Ter) c.5500G>T (p.Glu1834Ter) c.6676G>T (p.Glu2226Ter) c.6565G>T (p.Glu2189Ter) c.6487G>T (p.Glu2163Ter) c.6139G>T (p.Glu2047Ter) c.5764G>T (p.Glu1922Ter) c.6571G>T (p.Glu2191Ter) c.6673G>T (p.Glu2225Ter) c.6649G>T (p.Glu2217Ter) c.6616G>T (p.Glu2206Ter) c.6592G>T (p.Glu2198Ter) c.6547G>T (p.Glu2183Ter) | |
3 | g.53811342A>C | CA353259650 | CACNA1D | c.6482A>C (p.Glu2161Ala) n.1811A>C n.3421A>C n.1857A>C c.6422A>C (p.Glu2141Ala) c.6350A>C (p.Glu2117Ala) c.2543A>C c.6377A>C (p.Glu2126Ala) n.1849A>C c.6449A>C (p.Glu2150Ala) c.5501A>C (p.Glu1834Ala) c.6677A>C (p.Glu2226Ala) c.6566A>C (p.Glu2189Ala) c.6488A>C (p.Glu2163Ala) c.6140A>C (p.Glu2047Ala) c.5765A>C (p.Glu1922Ala) c.6572A>C (p.Glu2191Ala) c.6674A>C (p.Glu2225Ala) c.6650A>C (p.Glu2217Ala) c.6617A>C (p.Glu2206Ala) c.6593A>C (p.Glu2198Ala) c.6548A>C (p.Glu2183Ala) | |
3 | g.53811342A>G | CA353259652 | CACNA1D | c.6482A>G (p.Glu2161Gly) n.1811A>G n.3421A>G n.1857A>G c.6422A>G (p.Glu2141Gly) c.6350A>G (p.Glu2117Gly) c.2543A>G c.6377A>G (p.Glu2126Gly) n.1849A>G c.6449A>G (p.Glu2150Gly) c.5501A>G (p.Glu1834Gly) c.6677A>G (p.Glu2226Gly) c.6566A>G (p.Glu2189Gly) c.6488A>G (p.Glu2163Gly) c.6140A>G (p.Glu2047Gly) c.5765A>G (p.Glu1922Gly) c.6572A>G (p.Glu2191Gly) c.6674A>G (p.Glu2225Gly) c.6650A>G (p.Glu2217Gly) c.6617A>G (p.Glu2206Gly) c.6593A>G (p.Glu2198Gly) c.6548A>G (p.Glu2183Gly) | |
3 | g.53811342A>T | CA353259655 | CACNA1D | c.6482A>T (p.Glu2161Val) n.1811A>T n.3421A>T n.1857A>T c.6422A>T (p.Glu2141Val) c.6350A>T (p.Glu2117Val) c.2543A>T c.6377A>T (p.Glu2126Val) n.1849A>T c.6449A>T (p.Glu2150Val) c.5501A>T (p.Glu1834Val) c.6677A>T (p.Glu2226Val) c.6566A>T (p.Glu2189Val) c.6488A>T (p.Glu2163Val) c.6140A>T (p.Glu2047Val) c.5765A>T (p.Glu1922Val) c.6572A>T (p.Glu2191Val) c.6674A>T (p.Glu2225Val) c.6650A>T (p.Glu2217Val) c.6617A>T (p.Glu2206Val) c.6593A>T (p.Glu2198Val) c.6548A>T (p.Glu2183Val) | |
3 | g.53811343G>A | CA433895827 | CACNA1D | c.6483G>A (p.Glu2161=) n.1812G>A n.3422G>A n.1858G>A c.6423G>A (p.Glu2141=) c.6351G>A (p.Glu2117=) c.2544G>A c.6378G>A (p.Glu2126=) n.1850G>A c.6450G>A (p.Glu2150=) c.5502G>A (p.Glu1834=) c.6678G>A (p.Glu2226=) c.6567G>A (p.Glu2189=) c.6489G>A (p.Glu2163=) c.6141G>A (p.Glu2047=) c.5766G>A (p.Glu1922=) c.6573G>A (p.Glu2191=) c.6675G>A (p.Glu2225=) c.6651G>A (p.Glu2217=) c.6618G>A (p.Glu2206=) c.6594G>A (p.Glu2198=) c.6549G>A (p.Glu2183=) | |
3 | g.53811343G>C | CA353259657 | CACNA1D | c.6483G>C (p.Glu2161Asp) n.1812G>C n.3422G>C n.1858G>C c.6423G>C (p.Glu2141Asp) c.6351G>C (p.Glu2117Asp) c.2544G>C c.6378G>C (p.Glu2126Asp) n.1850G>C c.6450G>C (p.Glu2150Asp) c.5502G>C (p.Glu1834Asp) c.6678G>C (p.Glu2226Asp) c.6567G>C (p.Glu2189Asp) c.6489G>C (p.Glu2163Asp) c.6141G>C (p.Glu2047Asp) c.5766G>C (p.Glu1922Asp) c.6573G>C (p.Glu2191Asp) c.6675G>C (p.Glu2225Asp) c.6651G>C (p.Glu2217Asp) c.6618G>C (p.Glu2206Asp) c.6594G>C (p.Glu2198Asp) c.6549G>C (p.Glu2183Asp) | |
3 | g.53811343G= | CA1365489045 | CACNA1D | c.6483G= (p.Glu2161=) n.1812G= n.3422G= n.1858G= c.6423G= (p.Glu2141=) c.6351G= (p.Glu2117=) c.2544G= c.6378G= (p.Glu2126=) n.1850G= c.6450G= (p.Glu2150=) c.5502G= (p.Glu1834=) c.6678G= (p.Glu2226=) c.6567G= (p.Glu2189=) c.6489G= (p.Glu2163=) c.6141G= (p.Glu2047=) c.5766G= (p.Glu1922=) c.6573G= (p.Glu2191=) c.6675G= (p.Glu2225=) c.6651G= (p.Glu2217=) c.6618G= (p.Glu2206=) c.6594G= (p.Glu2198=) c.6549G= (p.Glu2183=) | |
3 | g.53811343G>T | CA353259659 | CACNA1D | c.6483G>T (p.Glu2161Asp) n.1812G>T n.3422G>T n.1858G>T c.6423G>T (p.Glu2141Asp) c.6351G>T (p.Glu2117Asp) c.2544G>T c.6378G>T (p.Glu2126Asp) n.1850G>T c.6450G>T (p.Glu2150Asp) c.5502G>T (p.Glu1834Asp) c.6678G>T (p.Glu2226Asp) c.6567G>T (p.Glu2189Asp) c.6489G>T (p.Glu2163Asp) c.6141G>T (p.Glu2047Asp) c.5766G>T (p.Glu1922Asp) c.6573G>T (p.Glu2191Asp) c.6675G>T (p.Glu2225Asp) c.6651G>T (p.Glu2217Asp) c.6618G>T (p.Glu2206Asp) c.6594G>T (p.Glu2198Asp) c.6549G>T (p.Glu2183Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53811344C>A | CA353259661 | CACNA1D | c.6484C>A (p.Pro2162Thr) n.1813C>A n.3423C>A n.1859C>A c.6424C>A (p.Pro2142Thr) c.6352C>A (p.Pro2118Thr) c.2545C>A c.6379C>A (p.Pro2127Thr) n.1851C>A c.6451C>A (p.Pro2151Thr) c.5503C>A (p.Pro1835Thr) c.6679C>A (p.Pro2227Thr) c.6568C>A (p.Pro2190Thr) c.6490C>A (p.Pro2164Thr) c.6142C>A (p.Pro2048Thr) c.5767C>A (p.Pro1923Thr) c.6574C>A (p.Pro2192Thr) c.6676C>A (p.Pro2226Thr) c.6652C>A (p.Pro2218Thr) c.6619C>A (p.Pro2207Thr) c.6595C>A (p.Pro2199Thr) c.6550C>A (p.Pro2184Thr) | |
3 | g.53811344C= | CA1365489046 | CACNA1D | c.6484C= (p.Pro2162=) n.1813C= n.3423C= n.1859C= c.6424C= (p.Pro2142=) c.6352C= (p.Pro2118=) c.2545C= c.6379C= (p.Pro2127=) n.1851C= c.6451C= (p.Pro2151=) c.5503C= (p.Pro1835=) c.6679C= (p.Pro2227=) c.6568C= (p.Pro2190=) c.6490C= (p.Pro2164=) c.6142C= (p.Pro2048=) c.5767C= (p.Pro1923=) c.6574C= (p.Pro2192=) c.6676C= (p.Pro2226=) c.6652C= (p.Pro2218=) c.6619C= (p.Pro2207=) c.6595C= (p.Pro2199=) c.6550C= (p.Pro2184=) | |
3 | g.53811344C>G | CA353259663 | CACNA1D | c.6484C>G (p.Pro2162Ala) n.1813C>G n.3423C>G n.1859C>G c.6424C>G (p.Pro2142Ala) c.6352C>G (p.Pro2118Ala) c.2545C>G c.6379C>G (p.Pro2127Ala) n.1851C>G c.6451C>G (p.Pro2151Ala) c.5503C>G (p.Pro1835Ala) c.6679C>G (p.Pro2227Ala) c.6568C>G (p.Pro2190Ala) c.6490C>G (p.Pro2164Ala) c.6142C>G (p.Pro2048Ala) c.5767C>G (p.Pro1923Ala) c.6574C>G (p.Pro2192Ala) c.6676C>G (p.Pro2226Ala) c.6652C>G (p.Pro2218Ala) c.6619C>G (p.Pro2207Ala) c.6595C>G (p.Pro2199Ala) c.6550C>G (p.Pro2184Ala) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53811344C>T | CA353259662 | CACNA1D | c.6484C>T (p.Pro2162Ser) n.1813C>T n.3423C>T n.1859C>T c.6424C>T (p.Pro2142Ser) c.6352C>T (p.Pro2118Ser) c.2545C>T c.6379C>T (p.Pro2127Ser) n.1851C>T c.6451C>T (p.Pro2151Ser) c.5503C>T (p.Pro1835Ser) c.6679C>T (p.Pro2227Ser) c.6568C>T (p.Pro2190Ser) c.6490C>T (p.Pro2164Ser) c.6142C>T (p.Pro2048Ser) c.5767C>T (p.Pro1923Ser) c.6574C>T (p.Pro2192Ser) c.6676C>T (p.Pro2226Ser) c.6652C>T (p.Pro2218Ser) c.6619C>T (p.Pro2207Ser) c.6595C>T (p.Pro2199Ser) c.6550C>T (p.Pro2184Ser) | |
3 | g.53811345C>A | CA353259664 | CACNA1D | c.6485C>A (p.Pro2162Gln) n.1814C>A n.3424C>A n.1860C>A c.6425C>A (p.Pro2142Gln) c.6353C>A (p.Pro2118Gln) c.2546C>A c.6380C>A (p.Pro2127Gln) n.1852C>A c.6452C>A (p.Pro2151Gln) c.5504C>A (p.Pro1835Gln) c.6680C>A (p.Pro2227Gln) c.6569C>A (p.Pro2190Gln) c.6491C>A (p.Pro2164Gln) c.6143C>A (p.Pro2048Gln) c.5768C>A (p.Pro1923Gln) c.6575C>A (p.Pro2192Gln) c.6677C>A (p.Pro2226Gln) c.6653C>A (p.Pro2218Gln) c.6620C>A (p.Pro2207Gln) c.6596C>A (p.Pro2199Gln) c.6551C>A (p.Pro2184Gln) | |
3 | g.53811345C>G | CA353259666 | CACNA1D | c.6485C>G (p.Pro2162Arg) n.1814C>G n.3424C>G n.1860C>G c.6425C>G (p.Pro2142Arg) c.6353C>G (p.Pro2118Arg) c.2546C>G c.6380C>G (p.Pro2127Arg) n.1852C>G c.6452C>G (p.Pro2151Arg) c.5504C>G (p.Pro1835Arg) c.6680C>G (p.Pro2227Arg) c.6569C>G (p.Pro2190Arg) c.6491C>G (p.Pro2164Arg) c.6143C>G (p.Pro2048Arg) c.5768C>G (p.Pro1923Arg) c.6575C>G (p.Pro2192Arg) c.6677C>G (p.Pro2226Arg) c.6653C>G (p.Pro2218Arg) c.6620C>G (p.Pro2207Arg) c.6596C>G (p.Pro2199Arg) c.6551C>G (p.Pro2184Arg) | |
3 | g.53811345C>T | CA353259665 | CACNA1D | c.6485C>T (p.Pro2162Leu) n.1814C>T n.3424C>T n.1860C>T c.6425C>T (p.Pro2142Leu) c.6353C>T (p.Pro2118Leu) c.2546C>T c.6380C>T (p.Pro2127Leu) n.1852C>T c.6452C>T (p.Pro2151Leu) c.5504C>T (p.Pro1835Leu) c.6680C>T (p.Pro2227Leu) c.6569C>T (p.Pro2190Leu) c.6491C>T (p.Pro2164Leu) c.6143C>T (p.Pro2048Leu) c.5768C>T (p.Pro1923Leu) c.6575C>T (p.Pro2192Leu) c.6677C>T (p.Pro2226Leu) c.6653C>T (p.Pro2218Leu) c.6620C>T (p.Pro2207Leu) c.6596C>T (p.Pro2199Leu) c.6551C>T (p.Pro2184Leu) | |
3 | g.53811346A>C | CA433895833 | CACNA1D | c.6486A>C (p.Pro2162=) n.1815A>C n.3425A>C n.1861A>C c.6426A>C (p.Pro2142=) c.6354A>C (p.Pro2118=) c.2547A>C c.6381A>C (p.Pro2127=) n.1853A>C c.6453A>C (p.Pro2151=) c.5505A>C (p.Pro1835=) c.6681A>C (p.Pro2227=) c.6570A>C (p.Pro2190=) c.6492A>C (p.Pro2164=) c.6144A>C (p.Pro2048=) c.5769A>C (p.Pro1923=) c.6576A>C (p.Pro2192=) c.6678A>C (p.Pro2226=) c.6654A>C (p.Pro2218=) c.6621A>C (p.Pro2207=) c.6597A>C (p.Pro2199=) c.6552A>C (p.Pro2184=) | |
3 | g.53811346A>G | CA433895835 | CACNA1D | c.6486A>G (p.Pro2162=) n.1815A>G n.3425A>G n.1861A>G c.6426A>G (p.Pro2142=) c.6354A>G (p.Pro2118=) c.2547A>G c.6381A>G (p.Pro2127=) n.1853A>G c.6453A>G (p.Pro2151=) c.5505A>G (p.Pro1835=) c.6681A>G (p.Pro2227=) c.6570A>G (p.Pro2190=) c.6492A>G (p.Pro2164=) c.6144A>G (p.Pro2048=) c.5769A>G (p.Pro1923=) c.6576A>G (p.Pro2192=) c.6678A>G (p.Pro2226=) c.6654A>G (p.Pro2218=) c.6621A>G (p.Pro2207=) c.6597A>G (p.Pro2199=) c.6552A>G (p.Pro2184=) | |
3 | g.53811346A>T | CA433895839 | CACNA1D | c.6486A>T (p.Pro2162=) n.1815A>T n.3425A>T n.1861A>T c.6426A>T (p.Pro2142=) c.6354A>T (p.Pro2118=) c.2547A>T c.6381A>T (p.Pro2127=) n.1853A>T c.6453A>T (p.Pro2151=) c.5505A>T (p.Pro1835=) c.6681A>T (p.Pro2227=) c.6570A>T (p.Pro2190=) c.6492A>T (p.Pro2164=) c.6144A>T (p.Pro2048=) c.5769A>T (p.Pro1923=) c.6576A>T (p.Pro2192=) c.6678A>T (p.Pro2226=) c.6654A>T (p.Pro2218=) c.6621A>T (p.Pro2207=) c.6597A>T (p.Pro2199=) c.6552A>T (p.Pro2184=) | |
3 | g.53811347G>A | CA353259667 | CACNA1D | c.6487G>A (p.Asp2163Asn) n.1816G>A n.3426G>A n.1862G>A c.6427G>A (p.Asp2143Asn) c.6355G>A (p.Asp2119Asn) c.2548G>A c.6382G>A (p.Asp2128Asn) n.1854G>A c.6454G>A (p.Asp2152Asn) c.5506G>A (p.Asp1836Asn) c.6682G>A (p.Asp2228Asn) c.6571G>A (p.Asp2191Asn) c.6493G>A (p.Asp2165Asn) c.6145G>A (p.Asp2049Asn) c.5770G>A (p.Asp1924Asn) c.6577G>A (p.Asp2193Asn) c.6679G>A (p.Asp2227Asn) c.6655G>A (p.Asp2219Asn) c.6622G>A (p.Asp2208Asn) c.6598G>A (p.Asp2200Asn) c.6553G>A (p.Asp2185Asn) | |
3 | g.53811347G>C | CA353259668 | CACNA1D | c.6487G>C (p.Asp2163His) n.1816G>C n.3426G>C n.1862G>C c.6427G>C (p.Asp2143His) c.6355G>C (p.Asp2119His) c.2548G>C c.6382G>C (p.Asp2128His) n.1854G>C c.6454G>C (p.Asp2152His) c.5506G>C (p.Asp1836His) c.6682G>C (p.Asp2228His) c.6571G>C (p.Asp2191His) c.6493G>C (p.Asp2165His) c.6145G>C (p.Asp2049His) c.5770G>C (p.Asp1924His) c.6577G>C (p.Asp2193His) c.6679G>C (p.Asp2227His) c.6655G>C (p.Asp2219His) c.6622G>C (p.Asp2208His) c.6598G>C (p.Asp2200His) c.6553G>C (p.Asp2185His) | |
3 | g.53811347G>T | CA353259669 | CACNA1D | c.6487G>T (p.Asp2163Tyr) n.1816G>T n.3426G>T n.1862G>T c.6427G>T (p.Asp2143Tyr) c.6355G>T (p.Asp2119Tyr) c.2548G>T c.6382G>T (p.Asp2128Tyr) n.1854G>T c.6454G>T (p.Asp2152Tyr) c.5506G>T (p.Asp1836Tyr) c.6682G>T (p.Asp2228Tyr) c.6571G>T (p.Asp2191Tyr) c.6493G>T (p.Asp2165Tyr) c.6145G>T (p.Asp2049Tyr) c.5770G>T (p.Asp1924Tyr) c.6577G>T (p.Asp2193Tyr) c.6679G>T (p.Asp2227Tyr) c.6655G>T (p.Asp2219Tyr) c.6622G>T (p.Asp2208Tyr) c.6598G>T (p.Asp2200Tyr) c.6553G>T (p.Asp2185Tyr) | |
3 | g.53811348A= | CA1365489047 | CACNA1D | c.6488A= (p.Asp2163=) n.1817A= n.3427A= n.1863A= c.6428A= (p.Asp2143=) c.6356A= (p.Asp2119=) c.2549A= c.6383A= (p.Asp2128=) n.1855A= c.6455A= (p.Asp2152=) c.5507A= (p.Asp1836=) c.6683A= (p.Asp2228=) c.6572A= (p.Asp2191=) c.6494A= (p.Asp2165=) c.6146A= (p.Asp2049=) c.5771A= (p.Asp1924=) c.6578A= (p.Asp2193=) c.6680A= (p.Asp2227=) c.6656A= (p.Asp2219=) c.6623A= (p.Asp2208=) c.6599A= (p.Asp2200=) c.6554A= (p.Asp2185=) | |
3 | g.53811348A>C | CA353259670 | CACNA1D | c.6488A>C (p.Asp2163Ala) n.1817A>C n.3427A>C n.1863A>C c.6428A>C (p.Asp2143Ala) c.6356A>C (p.Asp2119Ala) c.2549A>C c.6383A>C (p.Asp2128Ala) n.1855A>C c.6455A>C (p.Asp2152Ala) c.5507A>C (p.Asp1836Ala) c.6683A>C (p.Asp2228Ala) c.6572A>C (p.Asp2191Ala) c.6494A>C (p.Asp2165Ala) c.6146A>C (p.Asp2049Ala) c.5771A>C (p.Asp1924Ala) c.6578A>C (p.Asp2193Ala) c.6680A>C (p.Asp2227Ala) c.6656A>C (p.Asp2219Ala) c.6623A>C (p.Asp2208Ala) c.6599A>C (p.Asp2200Ala) c.6554A>C (p.Asp2185Ala) | |
3 | g.53811348A>G | CA353259671 | CACNA1D | c.6488A>G (p.Asp2163Gly) n.1817A>G n.3427A>G n.1863A>G c.6428A>G (p.Asp2143Gly) c.6356A>G (p.Asp2119Gly) c.2549A>G c.6383A>G (p.Asp2128Gly) n.1855A>G c.6455A>G (p.Asp2152Gly) c.5507A>G (p.Asp1836Gly) c.6683A>G (p.Asp2228Gly) c.6572A>G (p.Asp2191Gly) c.6494A>G (p.Asp2165Gly) c.6146A>G (p.Asp2049Gly) c.5771A>G (p.Asp1924Gly) c.6578A>G (p.Asp2193Gly) c.6680A>G (p.Asp2227Gly) c.6656A>G (p.Asp2219Gly) c.6623A>G (p.Asp2208Gly) c.6599A>G (p.Asp2200Gly) c.6554A>G (p.Asp2185Gly) | dbSNP gnomAD v2 |
3 | g.53811348A>T | CA353259672 | CACNA1D | c.6488A>T (p.Asp2163Val) n.1817A>T n.3427A>T n.1863A>T c.6428A>T (p.Asp2143Val) c.6356A>T (p.Asp2119Val) c.2549A>T c.6383A>T (p.Asp2128Val) n.1855A>T c.6455A>T (p.Asp2152Val) c.5507A>T (p.Asp1836Val) c.6683A>T (p.Asp2228Val) c.6572A>T (p.Asp2191Val) c.6494A>T (p.Asp2165Val) c.6146A>T (p.Asp2049Val) c.5771A>T (p.Asp1924Val) c.6578A>T (p.Asp2193Val) c.6680A>T (p.Asp2227Val) c.6656A>T (p.Asp2219Val) c.6623A>T (p.Asp2208Val) c.6599A>T (p.Asp2200Val) c.6554A>T (p.Asp2185Val) | gnomAD v4 |
3 | g.53811349C>A | CA353259674 | CACNA1D | c.6489C>A (p.Asp2163Glu) n.1818C>A n.3428C>A n.1864C>A c.6429C>A (p.Asp2143Glu) c.6357C>A (p.Asp2119Glu) c.2550C>A c.6384C>A (p.Asp2128Glu) n.1856C>A c.6456C>A (p.Asp2152Glu) c.5508C>A (p.Asp1836Glu) c.6684C>A (p.Asp2228Glu) c.6573C>A (p.Asp2191Glu) c.6495C>A (p.Asp2165Glu) c.6147C>A (p.Asp2049Glu) c.5772C>A (p.Asp1924Glu) c.6579C>A (p.Asp2193Glu) c.6681C>A (p.Asp2227Glu) c.6657C>A (p.Asp2219Glu) c.6624C>A (p.Asp2208Glu) c.6600C>A (p.Asp2200Glu) c.6555C>A (p.Asp2185Glu) | gnomAD v4 |
3 | g.53811349C= | CA1365489048 | CACNA1D | c.6489C= (p.Asp2163=) n.1818C= n.3428C= n.1864C= c.6429C= (p.Asp2143=) c.6357C= (p.Asp2119=) c.2550C= c.6384C= (p.Asp2128=) n.1856C= c.6456C= (p.Asp2152=) c.5508C= (p.Asp1836=) c.6684C= (p.Asp2228=) c.6573C= (p.Asp2191=) c.6495C= (p.Asp2165=) c.6147C= (p.Asp2049=) c.5772C= (p.Asp1924=) c.6579C= (p.Asp2193=) c.6681C= (p.Asp2227=) c.6657C= (p.Asp2219=) c.6624C= (p.Asp2208=) c.6600C= (p.Asp2200=) c.6555C= (p.Asp2185=) | |
3 | g.53811349C>G | CA353259673 | CACNA1D | c.6489C>G (p.Asp2163Glu) n.1818C>G n.3428C>G n.1864C>G c.6429C>G (p.Asp2143Glu) c.6357C>G (p.Asp2119Glu) c.2550C>G c.6384C>G (p.Asp2128Glu) n.1856C>G c.6456C>G (p.Asp2152Glu) c.5508C>G (p.Asp1836Glu) c.6684C>G (p.Asp2228Glu) c.6573C>G (p.Asp2191Glu) c.6495C>G (p.Asp2165Glu) c.6147C>G (p.Asp2049Glu) c.5772C>G (p.Asp1924Glu) c.6579C>G (p.Asp2193Glu) c.6681C>G (p.Asp2227Glu) c.6657C>G (p.Asp2219Glu) c.6624C>G (p.Asp2208Glu) c.6600C>G (p.Asp2200Glu) c.6555C>G (p.Asp2185Glu) | |
3 | g.53811349C>T | CA2455446 | CACNA1D | c.6489C>T (p.Asp2163=) n.1818C>T n.3428C>T n.1864C>T c.6429C>T (p.Asp2143=) c.6357C>T (p.Asp2119=) c.2550C>T c.6384C>T (p.Asp2128=) n.1856C>T c.6456C>T (p.Asp2152=) c.5508C>T (p.Asp1836=) c.6684C>T (p.Asp2228=) c.6573C>T (p.Asp2191=) c.6495C>T (p.Asp2165=) c.6147C>T (p.Asp2049=) c.5772C>T (p.Asp1924=) c.6579C>T (p.Asp2193=) c.6681C>T (p.Asp2227=) c.6657C>T (p.Asp2219=) c.6624C>T (p.Asp2208=) c.6600C>T (p.Asp2200=) c.6555C>T (p.Asp2185=) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.53811350C>A | CA353259675 | CACNA1D | c.6490C>A (p.Pro2164Thr) n.1819C>A n.3429C>A n.1865C>A c.6430C>A (p.Pro2144Thr) c.6358C>A (p.Pro2120Thr) c.2551C>A c.6385C>A (p.Pro2129Thr) n.1857C>A c.6457C>A (p.Pro2153Thr) c.5509C>A (p.Pro1837Thr) c.6685C>A (p.Pro2229Thr) c.6574C>A (p.Pro2192Thr) c.6496C>A (p.Pro2166Thr) c.6148C>A (p.Pro2050Thr) c.5773C>A (p.Pro1925Thr) c.6580C>A (p.Pro2194Thr) c.6682C>A (p.Pro2228Thr) c.6658C>A (p.Pro2220Thr) c.6625C>A (p.Pro2209Thr) c.6601C>A (p.Pro2201Thr) c.6556C>A (p.Pro2186Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53811350C= | CA1365489049 | CACNA1D | c.6490C= (p.Pro2164=) n.1819C= n.3429C= n.1865C= c.6430C= (p.Pro2144=) c.6358C= (p.Pro2120=) c.2551C= c.6385C= (p.Pro2129=) n.1857C= c.6457C= (p.Pro2153=) c.5509C= (p.Pro1837=) c.6685C= (p.Pro2229=) c.6574C= (p.Pro2192=) c.6496C= (p.Pro2166=) c.6148C= (p.Pro2050=) c.5773C= (p.Pro1925=) c.6580C= (p.Pro2194=) c.6682C= (p.Pro2228=) c.6658C= (p.Pro2220=) c.6625C= (p.Pro2209=) c.6601C= (p.Pro2201=) c.6556C= (p.Pro2186=) | |
3 | g.53811350C>G | CA353259676 | CACNA1D | c.6490C>G (p.Pro2164Ala) n.1819C>G n.3429C>G n.1865C>G c.6430C>G (p.Pro2144Ala) c.6358C>G (p.Pro2120Ala) c.2551C>G c.6385C>G (p.Pro2129Ala) n.1857C>G c.6457C>G (p.Pro2153Ala) c.5509C>G (p.Pro1837Ala) c.6685C>G (p.Pro2229Ala) c.6574C>G (p.Pro2192Ala) c.6496C>G (p.Pro2166Ala) c.6148C>G (p.Pro2050Ala) c.5773C>G (p.Pro1925Ala) c.6580C>G (p.Pro2194Ala) c.6682C>G (p.Pro2228Ala) c.6658C>G (p.Pro2220Ala) c.6625C>G (p.Pro2209Ala) c.6601C>G (p.Pro2201Ala) c.6556C>G (p.Pro2186Ala) | |
3 | g.53811350C>T | CA353259677 | CACNA1D | c.6490C>T (p.Pro2164Ser) n.1819C>T n.3429C>T n.1865C>T c.6430C>T (p.Pro2144Ser) c.6358C>T (p.Pro2120Ser) c.2551C>T c.6385C>T (p.Pro2129Ser) n.1857C>T c.6457C>T (p.Pro2153Ser) c.5509C>T (p.Pro1837Ser) c.6685C>T (p.Pro2229Ser) c.6574C>T (p.Pro2192Ser) c.6496C>T (p.Pro2166Ser) c.6148C>T (p.Pro2050Ser) c.5773C>T (p.Pro1925Ser) c.6580C>T (p.Pro2194Ser) c.6682C>T (p.Pro2228Ser) c.6658C>T (p.Pro2220Ser) c.6625C>T (p.Pro2209Ser) c.6601C>T (p.Pro2201Ser) c.6556C>T (p.Pro2186Ser) | gnomAD v4 |
3 | g.53811351C>A | CA2455447 | CACNA1D | c.6491C>A (p.Pro2164His) n.1820C>A n.3430C>A n.1866C>A c.6431C>A (p.Pro2144His) c.6359C>A (p.Pro2120His) c.2552C>A c.6386C>A (p.Pro2129His) n.1858C>A c.6458C>A (p.Pro2153His) c.5510C>A (p.Pro1837His) c.6686C>A (p.Pro2229His) c.6575C>A (p.Pro2192His) c.6497C>A (p.Pro2166His) c.6149C>A (p.Pro2050His) c.5774C>A (p.Pro1925His) c.6581C>A (p.Pro2194His) c.6683C>A (p.Pro2228His) c.6659C>A (p.Pro2220His) c.6626C>A (p.Pro2209His) c.6602C>A (p.Pro2201His) c.6557C>A (p.Pro2186His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811351C= | CA1365489050 | CACNA1D | c.6491C= (p.Pro2164=) n.1820C= n.3430C= n.1866C= c.6431C= (p.Pro2144=) c.6359C= (p.Pro2120=) c.2552C= c.6386C= (p.Pro2129=) n.1858C= c.6458C= (p.Pro2153=) c.5510C= (p.Pro1837=) c.6686C= (p.Pro2229=) c.6575C= (p.Pro2192=) c.6497C= (p.Pro2166=) c.6149C= (p.Pro2050=) c.5774C= (p.Pro1925=) c.6581C= (p.Pro2194=) c.6683C= (p.Pro2228=) c.6659C= (p.Pro2220=) c.6626C= (p.Pro2209=) c.6602C= (p.Pro2201=) c.6557C= (p.Pro2186=) | |
3 | g.53811351C>G | CA353259678 | CACNA1D | c.6491C>G (p.Pro2164Arg) n.1820C>G n.3430C>G n.1866C>G c.6431C>G (p.Pro2144Arg) c.6359C>G (p.Pro2120Arg) c.2552C>G c.6386C>G (p.Pro2129Arg) n.1858C>G c.6458C>G (p.Pro2153Arg) c.5510C>G (p.Pro1837Arg) c.6686C>G (p.Pro2229Arg) c.6575C>G (p.Pro2192Arg) c.6497C>G (p.Pro2166Arg) c.6149C>G (p.Pro2050Arg) c.5774C>G (p.Pro1925Arg) c.6581C>G (p.Pro2194Arg) c.6683C>G (p.Pro2228Arg) c.6659C>G (p.Pro2220Arg) c.6626C>G (p.Pro2209Arg) c.6602C>G (p.Pro2201Arg) c.6557C>G (p.Pro2186Arg) | |
3 | g.53811351C>T | CA353259679 | CACNA1D | c.6491C>T (p.Pro2164Leu) n.1820C>T n.3430C>T n.1866C>T c.6431C>T (p.Pro2144Leu) c.6359C>T (p.Pro2120Leu) c.2552C>T c.6386C>T (p.Pro2129Leu) n.1858C>T c.6458C>T (p.Pro2153Leu) c.5510C>T (p.Pro1837Leu) c.6686C>T (p.Pro2229Leu) c.6575C>T (p.Pro2192Leu) c.6497C>T (p.Pro2166Leu) c.6149C>T (p.Pro2050Leu) c.5774C>T (p.Pro1925Leu) c.6581C>T (p.Pro2194Leu) c.6683C>T (p.Pro2228Leu) c.6659C>T (p.Pro2220Leu) c.6626C>T (p.Pro2209Leu) c.6602C>T (p.Pro2201Leu) c.6557C>T (p.Pro2186Leu) | |
3 | g.53811352T>A | CA433895847 | CACNA1D | c.6492T>A (p.Pro2164=) n.1821T>A n.3431T>A n.1867T>A c.6432T>A (p.Pro2144=) c.6360T>A (p.Pro2120=) c.2553T>A c.6387T>A (p.Pro2129=) n.1859T>A c.6459T>A (p.Pro2153=) c.5511T>A (p.Pro1837=) c.6687T>A (p.Pro2229=) c.6576T>A (p.Pro2192=) c.6498T>A (p.Pro2166=) c.6150T>A (p.Pro2050=) c.5775T>A (p.Pro1925=) c.6582T>A (p.Pro2194=) c.6684T>A (p.Pro2228=) c.6660T>A (p.Pro2220=) c.6627T>A (p.Pro2209=) c.6603T>A (p.Pro2201=) c.6558T>A (p.Pro2186=) | |
3 | g.53811352T>C | CA433895848 | CACNA1D | c.6492T>C (p.Pro2164=) n.1821T>C n.3431T>C n.1867T>C c.6432T>C (p.Pro2144=) c.6360T>C (p.Pro2120=) c.2553T>C c.6387T>C (p.Pro2129=) n.1859T>C c.6459T>C (p.Pro2153=) c.5511T>C (p.Pro1837=) c.6687T>C (p.Pro2229=) c.6576T>C (p.Pro2192=) c.6498T>C (p.Pro2166=) c.6150T>C (p.Pro2050=) c.5775T>C (p.Pro1925=) c.6582T>C (p.Pro2194=) c.6684T>C (p.Pro2228=) c.6660T>C (p.Pro2220=) c.6627T>C (p.Pro2209=) c.6603T>C (p.Pro2201=) c.6558T>C (p.Pro2186=) | |
3 | g.53811352T>G | CA433895849 | CACNA1D | c.6492T>G (p.Pro2164=) n.1821T>G n.3431T>G n.1867T>G c.6432T>G (p.Pro2144=) c.6360T>G (p.Pro2120=) c.2553T>G c.6387T>G (p.Pro2129=) n.1859T>G c.6459T>G (p.Pro2153=) c.5511T>G (p.Pro1837=) c.6687T>G (p.Pro2229=) c.6576T>G (p.Pro2192=) c.6498T>G (p.Pro2166=) c.6150T>G (p.Pro2050=) c.5775T>G (p.Pro1925=) c.6582T>G (p.Pro2194=) c.6684T>G (p.Pro2228=) c.6660T>G (p.Pro2220=) c.6627T>G (p.Pro2209=) c.6603T>G (p.Pro2201=) c.6558T>G (p.Pro2186=) | |
3 | g.53811353G>A | CA2455448 | CACNA1D | c.6493G>A (p.Gly2165Arg) n.1822G>A n.3432G>A n.1868G>A c.6433G>A (p.Gly2145Arg) c.6361G>A (p.Gly2121Arg) c.2554G>A c.6388G>A (p.Gly2130Arg) n.1860G>A c.6460G>A (p.Gly2154Arg) c.5512G>A (p.Gly1838Arg) c.6688G>A (p.Gly2230Arg) c.6577G>A (p.Gly2193Arg) c.6499G>A (p.Gly2167Arg) c.6151G>A (p.Gly2051Arg) c.5776G>A (p.Gly1926Arg) c.6583G>A (p.Gly2195Arg) c.6685G>A (p.Gly2229Arg) c.6661G>A (p.Gly2221Arg) c.6628G>A (p.Gly2210Arg) c.6604G>A (p.Gly2202Arg) c.6559G>A (p.Gly2187Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.53811353G>C | CA353259681 | CACNA1D | c.6493G>C (p.Gly2165Arg) n.1822G>C n.3432G>C n.1868G>C c.6433G>C (p.Gly2145Arg) c.6361G>C (p.Gly2121Arg) c.2554G>C c.6388G>C (p.Gly2130Arg) n.1860G>C c.6460G>C (p.Gly2154Arg) c.5512G>C (p.Gly1838Arg) c.6688G>C (p.Gly2230Arg) c.6577G>C (p.Gly2193Arg) c.6499G>C (p.Gly2167Arg) c.6151G>C (p.Gly2051Arg) c.5776G>C (p.Gly1926Arg) c.6583G>C (p.Gly2195Arg) c.6685G>C (p.Gly2229Arg) c.6661G>C (p.Gly2221Arg) c.6628G>C (p.Gly2210Arg) c.6604G>C (p.Gly2202Arg) c.6559G>C (p.Gly2187Arg) | |
3 | g.53811353G= | CA1365489051 | CACNA1D | c.6493G= (p.Gly2165=) n.1822G= n.3432G= n.1868G= c.6433G= (p.Gly2145=) c.6361G= (p.Gly2121=) c.2554G= c.6388G= (p.Gly2130=) n.1860G= c.6460G= (p.Gly2154=) c.5512G= (p.Gly1838=) c.6688G= (p.Gly2230=) c.6577G= (p.Gly2193=) c.6499G= (p.Gly2167=) c.6151G= (p.Gly2051=) c.5776G= (p.Gly1926=) c.6583G= (p.Gly2195=) c.6685G= (p.Gly2229=) c.6661G= (p.Gly2221=) c.6628G= (p.Gly2210=) c.6604G= (p.Gly2202=) c.6559G= (p.Gly2187=) | |
3 | g.53811353G>T | CA353259680 | CACNA1D | c.6493G>T (p.Gly2165Trp) n.1822G>T n.3432G>T n.1868G>T c.6433G>T (p.Gly2145Trp) c.6361G>T (p.Gly2121Trp) c.2554G>T c.6388G>T (p.Gly2130Trp) n.1860G>T c.6460G>T (p.Gly2154Trp) c.5512G>T (p.Gly1838Trp) c.6688G>T (p.Gly2230Trp) c.6577G>T (p.Gly2193Trp) c.6499G>T (p.Gly2167Trp) c.6151G>T (p.Gly2051Trp) c.5776G>T (p.Gly1926Trp) c.6583G>T (p.Gly2195Trp) c.6685G>T (p.Gly2229Trp) c.6661G>T (p.Gly2221Trp) c.6628G>T (p.Gly2210Trp) c.6604G>T (p.Gly2202Trp) c.6559G>T (p.Gly2187Trp) | |
3 | g.53811354G>A | CA353259682 | CACNA1D | c.6494G>A (p.Gly2165Glu) n.1823G>A n.3433G>A n.1869G>A c.6434G>A (p.Gly2145Glu) c.6362G>A (p.Gly2121Glu) c.2555G>A c.6389G>A (p.Gly2130Glu) n.1861G>A c.6461G>A (p.Gly2154Glu) c.5513G>A (p.Gly1838Glu) c.6689G>A (p.Gly2230Glu) c.6578G>A (p.Gly2193Glu) c.6500G>A (p.Gly2167Glu) c.6152G>A (p.Gly2051Glu) c.5777G>A (p.Gly1926Glu) c.6584G>A (p.Gly2195Glu) c.6686G>A (p.Gly2229Glu) c.6662G>A (p.Gly2221Glu) c.6629G>A (p.Gly2210Glu) c.6605G>A (p.Gly2202Glu) c.6560G>A (p.Gly2187Glu) | gnomAD v4 |
3 | g.53811354G>C | CA353259683 | CACNA1D | c.6494G>C (p.Gly2165Ala) n.1823G>C n.3433G>C n.1869G>C c.6434G>C (p.Gly2145Ala) c.6362G>C (p.Gly2121Ala) c.2555G>C c.6389G>C (p.Gly2130Ala) n.1861G>C c.6461G>C (p.Gly2154Ala) c.5513G>C (p.Gly1838Ala) c.6689G>C (p.Gly2230Ala) c.6578G>C (p.Gly2193Ala) c.6500G>C (p.Gly2167Ala) c.6152G>C (p.Gly2051Ala) c.5777G>C (p.Gly1926Ala) c.6584G>C (p.Gly2195Ala) c.6686G>C (p.Gly2229Ala) c.6662G>C (p.Gly2221Ala) c.6629G>C (p.Gly2210Ala) c.6605G>C (p.Gly2202Ala) c.6560G>C (p.Gly2187Ala) | |
3 | g.53811354G>T | CA353259684 | CACNA1D | c.6494G>T (p.Gly2165Val) n.1823G>T n.3433G>T n.1869G>T c.6434G>T (p.Gly2145Val) c.6362G>T (p.Gly2121Val) c.2555G>T c.6389G>T (p.Gly2130Val) n.1861G>T c.6461G>T (p.Gly2154Val) c.5513G>T (p.Gly1838Val) c.6689G>T (p.Gly2230Val) c.6578G>T (p.Gly2193Val) c.6500G>T (p.Gly2167Val) c.6152G>T (p.Gly2051Val) c.5777G>T (p.Gly1926Val) c.6584G>T (p.Gly2195Val) c.6686G>T (p.Gly2229Val) c.6662G>T (p.Gly2221Val) c.6629G>T (p.Gly2210Val) c.6605G>T (p.Gly2202Val) c.6560G>T (p.Gly2187Val) | |
3 | g.53811355G>A | CA433895856 | CACNA1D | c.6495G>A (p.Gly2165=) n.1824G>A n.3434G>A n.1870G>A c.6435G>A (p.Gly2145=) c.6363G>A (p.Gly2121=) c.2556G>A c.6390G>A (p.Gly2130=) n.1862G>A c.6462G>A (p.Gly2154=) c.5514G>A (p.Gly1838=) c.6690G>A (p.Gly2230=) c.6579G>A (p.Gly2193=) c.6501G>A (p.Gly2167=) c.6153G>A (p.Gly2051=) c.5778G>A (p.Gly1926=) c.6585G>A (p.Gly2195=) c.6687G>A (p.Gly2229=) c.6663G>A (p.Gly2221=) c.6630G>A (p.Gly2210=) c.6606G>A (p.Gly2202=) c.6561G>A (p.Gly2187=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811355G>C | CA433895857 | CACNA1D | c.6495G>C (p.Gly2165=) n.1824G>C n.3434G>C n.1870G>C c.6435G>C (p.Gly2145=) c.6363G>C (p.Gly2121=) c.2556G>C c.6390G>C (p.Gly2130=) n.1862G>C c.6462G>C (p.Gly2154=) c.5514G>C (p.Gly1838=) c.6690G>C (p.Gly2230=) c.6579G>C (p.Gly2193=) c.6501G>C (p.Gly2167=) c.6153G>C (p.Gly2051=) c.5778G>C (p.Gly1926=) c.6585G>C (p.Gly2195=) c.6687G>C (p.Gly2229=) c.6663G>C (p.Gly2221=) c.6630G>C (p.Gly2210=) c.6606G>C (p.Gly2202=) c.6561G>C (p.Gly2187=) | |
3 | g.53811355G= | CA1365489052 | CACNA1D | c.6495G= (p.Gly2165=) n.1824G= n.3434G= n.1870G= c.6435G= (p.Gly2145=) c.6363G= (p.Gly2121=) c.2556G= c.6390G= (p.Gly2130=) n.1862G= c.6462G= (p.Gly2154=) c.5514G= (p.Gly1838=) c.6690G= (p.Gly2230=) c.6579G= (p.Gly2193=) c.6501G= (p.Gly2167=) c.6153G= (p.Gly2051=) c.5778G= (p.Gly1926=) c.6585G= (p.Gly2195=) c.6687G= (p.Gly2229=) c.6663G= (p.Gly2221=) c.6630G= (p.Gly2210=) c.6606G= (p.Gly2202=) c.6561G= (p.Gly2187=) | |
3 | g.53811355G>T | CA433895858 | CACNA1D | c.6495G>T (p.Gly2165=) n.1824G>T n.3434G>T n.1870G>T c.6435G>T (p.Gly2145=) c.6363G>T (p.Gly2121=) c.2556G>T c.6390G>T (p.Gly2130=) n.1862G>T c.6462G>T (p.Gly2154=) c.5514G>T (p.Gly1838=) c.6690G>T (p.Gly2230=) c.6579G>T (p.Gly2193=) c.6501G>T (p.Gly2167=) c.6153G>T (p.Gly2051=) c.5778G>T (p.Gly1926=) c.6585G>T (p.Gly2195=) c.6687G>T (p.Gly2229=) c.6663G>T (p.Gly2221=) c.6630G>T (p.Gly2210=) c.6606G>T (p.Gly2202=) c.6561G>T (p.Gly2187=) | |
3 | g.53811356A>C | CA433895860 | CACNA1D | c.6496A>C (p.Arg2166=) n.1825A>C n.3435A>C n.1871A>C c.6436A>C (p.Arg2146=) c.6364A>C (p.Arg2122=) c.2557A>C c.6391A>C (p.Arg2131=) n.1863A>C c.6463A>C (p.Arg2155=) c.5515A>C (p.Arg1839=) c.6691A>C (p.Arg2231=) c.6580A>C (p.Arg2194=) c.6502A>C (p.Arg2168=) c.6154A>C (p.Arg2052=) c.5779A>C (p.Arg1927=) c.6586A>C (p.Arg2196=) c.6688A>C (p.Arg2230=) c.6664A>C (p.Arg2222=) c.6631A>C (p.Arg2211=) c.6607A>C (p.Arg2203=) c.6562A>C (p.Arg2188=) | |
3 | g.53811356A>G | CA353259685 | CACNA1D | c.6496A>G (p.Arg2166Gly) n.1825A>G n.3435A>G n.1871A>G c.6436A>G (p.Arg2146Gly) c.6364A>G (p.Arg2122Gly) c.2557A>G c.6391A>G (p.Arg2131Gly) n.1863A>G c.6463A>G (p.Arg2155Gly) c.5515A>G (p.Arg1839Gly) c.6691A>G (p.Arg2231Gly) c.6580A>G (p.Arg2194Gly) c.6502A>G (p.Arg2168Gly) c.6154A>G (p.Arg2052Gly) c.5779A>G (p.Arg1927Gly) c.6586A>G (p.Arg2196Gly) c.6688A>G (p.Arg2230Gly) c.6664A>G (p.Arg2222Gly) c.6631A>G (p.Arg2211Gly) c.6607A>G (p.Arg2203Gly) c.6562A>G (p.Arg2188Gly) | gnomAD v4 |
3 | g.53811356A>T | CA353259686 | CACNA1D | c.6496A>T (p.Arg2166Trp) n.1825A>T n.3435A>T n.1871A>T c.6436A>T (p.Arg2146Trp) c.6364A>T (p.Arg2122Trp) c.2557A>T c.6391A>T (p.Arg2131Trp) n.1863A>T c.6463A>T (p.Arg2155Trp) c.5515A>T (p.Arg1839Trp) c.6691A>T (p.Arg2231Trp) c.6580A>T (p.Arg2194Trp) c.6502A>T (p.Arg2168Trp) c.6154A>T (p.Arg2052Trp) c.5779A>T (p.Arg1927Trp) c.6586A>T (p.Arg2196Trp) c.6688A>T (p.Arg2230Trp) c.6664A>T (p.Arg2222Trp) c.6631A>T (p.Arg2211Trp) c.6607A>T (p.Arg2203Trp) c.6562A>T (p.Arg2188Trp) | |
3 | g.53811357G>A | CA2455449 | CACNA1D | c.6497G>A (p.Arg2166Lys) n.1826G>A n.3436G>A n.1872G>A c.6437G>A (p.Arg2146Lys) c.6365G>A (p.Arg2122Lys) c.2558G>A c.6392G>A (p.Arg2131Lys) n.1864G>A c.6464G>A (p.Arg2155Lys) c.5516G>A (p.Arg1839Lys) c.6692G>A (p.Arg2231Lys) c.6581G>A (p.Arg2194Lys) c.6503G>A (p.Arg2168Lys) c.6155G>A (p.Arg2052Lys) c.5780G>A (p.Arg1927Lys) c.6587G>A (p.Arg2196Lys) c.6689G>A (p.Arg2230Lys) c.6665G>A (p.Arg2222Lys) c.6632G>A (p.Arg2211Lys) c.6608G>A (p.Arg2203Lys) c.6563G>A (p.Arg2188Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811357G>C | CA353259687 | CACNA1D | c.6497G>C (p.Arg2166Thr) n.1826G>C n.3436G>C n.1872G>C c.6437G>C (p.Arg2146Thr) c.6365G>C (p.Arg2122Thr) c.2558G>C c.6392G>C (p.Arg2131Thr) n.1864G>C c.6464G>C (p.Arg2155Thr) c.5516G>C (p.Arg1839Thr) c.6692G>C (p.Arg2231Thr) c.6581G>C (p.Arg2194Thr) c.6503G>C (p.Arg2168Thr) c.6155G>C (p.Arg2052Thr) c.5780G>C (p.Arg1927Thr) c.6587G>C (p.Arg2196Thr) c.6689G>C (p.Arg2230Thr) c.6665G>C (p.Arg2222Thr) c.6632G>C (p.Arg2211Thr) c.6608G>C (p.Arg2203Thr) c.6563G>C (p.Arg2188Thr) | |
3 | g.53811357G= | CA1365489053 | CACNA1D | c.6497G= (p.Arg2166=) n.1826G= n.3436G= n.1872G= c.6437G= (p.Arg2146=) c.6365G= (p.Arg2122=) c.2558G= c.6392G= (p.Arg2131=) n.1864G= c.6464G= (p.Arg2155=) c.5516G= (p.Arg1839=) c.6692G= (p.Arg2231=) c.6581G= (p.Arg2194=) c.6503G= (p.Arg2168=) c.6155G= (p.Arg2052=) c.5780G= (p.Arg1927=) c.6587G= (p.Arg2196=) c.6689G= (p.Arg2230=) c.6665G= (p.Arg2222=) c.6632G= (p.Arg2211=) c.6608G= (p.Arg2203=) c.6563G= (p.Arg2188=) | |
3 | g.53811357G>T | CA353259688 | CACNA1D | c.6497G>T (p.Arg2166Met) n.1826G>T n.3436G>T n.1872G>T c.6437G>T (p.Arg2146Met) c.6365G>T (p.Arg2122Met) c.2558G>T c.6392G>T (p.Arg2131Met) n.1864G>T c.6464G>T (p.Arg2155Met) c.5516G>T (p.Arg1839Met) c.6692G>T (p.Arg2231Met) c.6581G>T (p.Arg2194Met) c.6503G>T (p.Arg2168Met) c.6155G>T (p.Arg2052Met) c.5780G>T (p.Arg1927Met) c.6587G>T (p.Arg2196Met) c.6689G>T (p.Arg2230Met) c.6665G>T (p.Arg2222Met) c.6632G>T (p.Arg2211Met) c.6608G>T (p.Arg2203Met) c.6563G>T (p.Arg2188Met) | |
3 | g.53811358G>A | CA2455450 | CACNA1D | c.6498G>A (p.Arg2166=) n.1827G>A n.3437G>A n.1873G>A c.6438G>A (p.Arg2146=) c.6366G>A (p.Arg2122=) c.2559G>A c.6393G>A (p.Arg2131=) n.1865G>A c.6465G>A (p.Arg2155=) c.5517G>A (p.Arg1839=) c.6693G>A (p.Arg2231=) c.6582G>A (p.Arg2194=) c.6504G>A (p.Arg2168=) c.6156G>A (p.Arg2052=) c.5781G>A (p.Arg1927=) c.6588G>A (p.Arg2196=) c.6690G>A (p.Arg2230=) c.6666G>A (p.Arg2222=) c.6633G>A (p.Arg2211=) c.6609G>A (p.Arg2203=) c.6564G>A (p.Arg2188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811358G>C | CA353259689 | CACNA1D | c.6498G>C (p.Arg2166Ser) n.1827G>C n.3437G>C n.1873G>C c.6438G>C (p.Arg2146Ser) c.6366G>C (p.Arg2122Ser) c.2559G>C c.6393G>C (p.Arg2131Ser) n.1865G>C c.6465G>C (p.Arg2155Ser) c.5517G>C (p.Arg1839Ser) c.6693G>C (p.Arg2231Ser) c.6582G>C (p.Arg2194Ser) c.6504G>C (p.Arg2168Ser) c.6156G>C (p.Arg2052Ser) c.5781G>C (p.Arg1927Ser) c.6588G>C (p.Arg2196Ser) c.6690G>C (p.Arg2230Ser) c.6666G>C (p.Arg2222Ser) c.6633G>C (p.Arg2211Ser) c.6609G>C (p.Arg2203Ser) c.6564G>C (p.Arg2188Ser) | |
3 | g.53811358G= | CA1365489054 | CACNA1D | c.6498G= (p.Arg2166=) n.1827G= n.3437G= n.1873G= c.6438G= (p.Arg2146=) c.6366G= (p.Arg2122=) c.2559G= c.6393G= (p.Arg2131=) n.1865G= c.6465G= (p.Arg2155=) c.5517G= (p.Arg1839=) c.6693G= (p.Arg2231=) c.6582G= (p.Arg2194=) c.6504G= (p.Arg2168=) c.6156G= (p.Arg2052=) c.5781G= (p.Arg1927=) c.6588G= (p.Arg2196=) c.6690G= (p.Arg2230=) c.6666G= (p.Arg2222=) c.6633G= (p.Arg2211=) c.6609G= (p.Arg2203=) c.6564G= (p.Arg2188=) | |
3 | g.53811358G>T | CA353259691 | CACNA1D | c.6498G>T (p.Arg2166Ser) n.1827G>T n.3437G>T n.1873G>T c.6438G>T (p.Arg2146Ser) c.6366G>T (p.Arg2122Ser) c.2559G>T c.6393G>T (p.Arg2131Ser) n.1865G>T c.6465G>T (p.Arg2155Ser) c.5517G>T (p.Arg1839Ser) c.6693G>T (p.Arg2231Ser) c.6582G>T (p.Arg2194Ser) c.6504G>T (p.Arg2168Ser) c.6156G>T (p.Arg2052Ser) c.5781G>T (p.Arg1927Ser) c.6588G>T (p.Arg2196Ser) c.6690G>T (p.Arg2230Ser) c.6666G>T (p.Arg2222Ser) c.6633G>T (p.Arg2211Ser) c.6609G>T (p.Arg2203Ser) c.6564G>T (p.Arg2188Ser) | ClinVar |
3 | g.53811359G>A | CA353259694 | CACNA1D | c.6499G>A (p.Asp2167Asn) n.1828G>A n.3438G>A n.1874G>A c.6439G>A (p.Asp2147Asn) c.6367G>A (p.Asp2123Asn) c.2560G>A c.6394G>A (p.Asp2132Asn) n.1866G>A c.6466G>A (p.Asp2156Asn) c.5518G>A (p.Asp1840Asn) c.6694G>A (p.Asp2232Asn) c.6583G>A (p.Asp2195Asn) c.6505G>A (p.Asp2169Asn) c.6157G>A (p.Asp2053Asn) c.5782G>A (p.Asp1928Asn) c.6589G>A (p.Asp2197Asn) c.6691G>A (p.Asp2231Asn) c.6667G>A (p.Asp2223Asn) c.6634G>A (p.Asp2212Asn) c.6610G>A (p.Asp2204Asn) c.6565G>A (p.Asp2189Asn) | gnomAD v4 |
3 | g.53811359G>C | CA353259697 | CACNA1D | c.6499G>C (p.Asp2167His) n.1828G>C n.3438G>C n.1874G>C c.6439G>C (p.Asp2147His) c.6367G>C (p.Asp2123His) c.2560G>C c.6394G>C (p.Asp2132His) n.1866G>C c.6466G>C (p.Asp2156His) c.5518G>C (p.Asp1840His) c.6694G>C (p.Asp2232His) c.6583G>C (p.Asp2195His) c.6505G>C (p.Asp2169His) c.6157G>C (p.Asp2053His) c.5782G>C (p.Asp1928His) c.6589G>C (p.Asp2197His) c.6691G>C (p.Asp2231His) c.6667G>C (p.Asp2223His) c.6634G>C (p.Asp2212His) c.6610G>C (p.Asp2204His) c.6565G>C (p.Asp2189His) | |
3 | g.53811359G= | CA1365489055 | CACNA1D | c.6499G= (p.Asp2167=) n.1828G= n.3438G= n.1874G= c.6439G= (p.Asp2147=) c.6367G= (p.Asp2123=) c.2560G= c.6394G= (p.Asp2132=) n.1866G= c.6466G= (p.Asp2156=) c.5518G= (p.Asp1840=) c.6694G= (p.Asp2232=) c.6583G= (p.Asp2195=) c.6505G= (p.Asp2169=) c.6157G= (p.Asp2053=) c.5782G= (p.Asp1928=) c.6589G= (p.Asp2197=) c.6691G= (p.Asp2231=) c.6667G= (p.Asp2223=) c.6634G= (p.Asp2212=) c.6610G= (p.Asp2204=) c.6565G= (p.Asp2189=) | |
3 | g.53811359G>T | CA353259696 | CACNA1D | c.6499G>T (p.Asp2167Tyr) n.1828G>T n.3438G>T n.1874G>T c.6439G>T (p.Asp2147Tyr) c.6367G>T (p.Asp2123Tyr) c.2560G>T c.6394G>T (p.Asp2132Tyr) n.1866G>T c.6466G>T (p.Asp2156Tyr) c.5518G>T (p.Asp1840Tyr) c.6694G>T (p.Asp2232Tyr) c.6583G>T (p.Asp2195Tyr) c.6505G>T (p.Asp2169Tyr) c.6157G>T (p.Asp2053Tyr) c.5782G>T (p.Asp1928Tyr) c.6589G>T (p.Asp2197Tyr) c.6691G>T (p.Asp2231Tyr) c.6667G>T (p.Asp2223Tyr) c.6634G>T (p.Asp2212Tyr) c.6610G>T (p.Asp2204Tyr) c.6565G>T (p.Asp2189Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53811360A>C | CA353259698 | CACNA1D | c.6500A>C (p.Asp2167Ala) n.1829A>C n.3439A>C n.1875A>C c.6440A>C (p.Asp2147Ala) c.6368A>C (p.Asp2123Ala) c.2561A>C c.6395A>C (p.Asp2132Ala) n.1867A>C c.6467A>C (p.Asp2156Ala) c.5519A>C (p.Asp1840Ala) c.6695A>C (p.Asp2232Ala) c.6584A>C (p.Asp2195Ala) c.6506A>C (p.Asp2169Ala) c.6158A>C (p.Asp2053Ala) c.5783A>C (p.Asp1928Ala) c.6590A>C (p.Asp2197Ala) c.6692A>C (p.Asp2231Ala) c.6668A>C (p.Asp2223Ala) c.6635A>C (p.Asp2212Ala) c.6611A>C (p.Asp2204Ala) c.6566A>C (p.Asp2189Ala) | |
3 | g.53811360A>G | CA353259700 | CACNA1D | c.6500A>G (p.Asp2167Gly) n.1829A>G n.3439A>G n.1875A>G c.6440A>G (p.Asp2147Gly) c.6368A>G (p.Asp2123Gly) c.2561A>G c.6395A>G (p.Asp2132Gly) n.1867A>G c.6467A>G (p.Asp2156Gly) c.5519A>G (p.Asp1840Gly) c.6695A>G (p.Asp2232Gly) c.6584A>G (p.Asp2195Gly) c.6506A>G (p.Asp2169Gly) c.6158A>G (p.Asp2053Gly) c.5783A>G (p.Asp1928Gly) c.6590A>G (p.Asp2197Gly) c.6692A>G (p.Asp2231Gly) c.6668A>G (p.Asp2223Gly) c.6635A>G (p.Asp2212Gly) c.6611A>G (p.Asp2204Gly) c.6566A>G (p.Asp2189Gly) | |
3 | g.53811360A>T | CA353259701 | CACNA1D | c.6500A>T (p.Asp2167Val) n.1829A>T n.3439A>T n.1875A>T c.6440A>T (p.Asp2147Val) c.6368A>T (p.Asp2123Val) c.2561A>T c.6395A>T (p.Asp2132Val) n.1867A>T c.6467A>T (p.Asp2156Val) c.5519A>T (p.Asp1840Val) c.6695A>T (p.Asp2232Val) c.6584A>T (p.Asp2195Val) c.6506A>T (p.Asp2169Val) c.6158A>T (p.Asp2053Val) c.5783A>T (p.Asp1928Val) c.6590A>T (p.Asp2197Val) c.6692A>T (p.Asp2231Val) c.6668A>T (p.Asp2223Val) c.6635A>T (p.Asp2212Val) c.6611A>T (p.Asp2204Val) c.6566A>T (p.Asp2189Val) | |
3 | g.53811361T>A | CA353259703 | CACNA1D | c.6501T>A (p.Asp2167Glu) n.1830T>A n.3440T>A n.1876T>A c.6441T>A (p.Asp2147Glu) c.6369T>A (p.Asp2123Glu) c.2562T>A c.6396T>A (p.Asp2132Glu) n.1868T>A c.6468T>A (p.Asp2156Glu) c.5520T>A (p.Asp1840Glu) c.6696T>A (p.Asp2232Glu) c.6585T>A (p.Asp2195Glu) c.6507T>A (p.Asp2169Glu) c.6159T>A (p.Asp2053Glu) c.5784T>A (p.Asp1928Glu) c.6591T>A (p.Asp2197Glu) c.6693T>A (p.Asp2231Glu) c.6669T>A (p.Asp2223Glu) c.6636T>A (p.Asp2212Glu) c.6612T>A (p.Asp2204Glu) c.6567T>A (p.Asp2189Glu) | ClinVar |
3 | g.53811361T>C | CA433895871 | CACNA1D | c.6501T>C (p.Asp2167=) n.1830T>C n.3440T>C n.1876T>C c.6441T>C (p.Asp2147=) c.6369T>C (p.Asp2123=) c.2562T>C c.6396T>C (p.Asp2132=) n.1868T>C c.6468T>C (p.Asp2156=) c.5520T>C (p.Asp1840=) c.6696T>C (p.Asp2232=) c.6585T>C (p.Asp2195=) c.6507T>C (p.Asp2169=) c.6159T>C (p.Asp2053=) c.5784T>C (p.Asp1928=) c.6591T>C (p.Asp2197=) c.6693T>C (p.Asp2231=) c.6669T>C (p.Asp2223=) c.6636T>C (p.Asp2212=) c.6612T>C (p.Asp2204=) c.6567T>C (p.Asp2189=) | |
3 | g.53811361T>G | CA353259704 | CACNA1D | c.6501T>G (p.Asp2167Glu) n.1830T>G n.3440T>G n.1876T>G c.6441T>G (p.Asp2147Glu) c.6369T>G (p.Asp2123Glu) c.2562T>G c.6396T>G (p.Asp2132Glu) n.1868T>G c.6468T>G (p.Asp2156Glu) c.5520T>G (p.Asp1840Glu) c.6696T>G (p.Asp2232Glu) c.6585T>G (p.Asp2195Glu) c.6507T>G (p.Asp2169Glu) c.6159T>G (p.Asp2053Glu) c.5784T>G (p.Asp1928Glu) c.6591T>G (p.Asp2197Glu) c.6693T>G (p.Asp2231Glu) c.6669T>G (p.Asp2223Glu) c.6636T>G (p.Asp2212Glu) c.6612T>G (p.Asp2204Glu) c.6567T>G (p.Asp2189Glu) | |
3 | g.53811361_53811364delinsTGAG | CA1365489056 | CACNA1D | c.6501_6504delinsTGAG (p.Asp2167=) n.1830_1833delinsTGAG n.3440_3443delinsTGAG n.1876_1879delinsTGAG c.6441_6444delinsTGAG (p.Asp2147=) c.6369_6372delinsTGAG (p.Asp2123=) c.2562_2565delinsTGAG c.6396_6399delinsTGAG (p.Asp2132=) n.1868_1871delinsTGAG c.6468_6471delinsTGAG (p.Asp2156=) c.5520_5523delinsTGAG (p.Asp1840=) c.6696_6699delinsTGAG (p.Asp2232=) c.6585_6588delinsTGAG (p.Asp2195=) c.6507_6510delinsTGAG (p.Asp2169=) c.6159_6162delinsTGAG (p.Asp2053=) c.5784_5787delinsTGAG (p.Asp1928=) c.6591_6594delinsTGAG (p.Asp2197=) c.6693_6696delinsTGAG (p.Asp2231=) c.6669_6672delinsTGAG (p.Asp2223=) c.6636_6639delinsTGAG (p.Asp2212=) c.6612_6615delinsTGAG (p.Asp2204=) c.6567_6570delinsTGAG (p.Asp2189=) | |
3 | g.53811362G>A | CA353259707 | CACNA1D | c.6502G>A (p.Glu2168Lys) n.1831G>A n.3441G>A n.1877G>A c.6442G>A (p.Glu2148Lys) c.6370G>A (p.Glu2124Lys) c.2563G>A c.6397G>A (p.Glu2133Lys) n.1869G>A c.6469G>A (p.Glu2157Lys) c.5521G>A (p.Glu1841Lys) c.6697G>A (p.Glu2233Lys) c.6586G>A (p.Glu2196Lys) c.6508G>A (p.Glu2170Lys) c.6160G>A (p.Glu2054Lys) c.5785G>A (p.Glu1929Lys) c.6592G>A (p.Glu2198Lys) c.6694G>A (p.Glu2232Lys) c.6670G>A (p.Glu2224Lys) c.6637G>A (p.Glu2213Lys) c.6613G>A (p.Glu2205Lys) c.6568G>A (p.Glu2190Lys) | gnomAD v4 |
3 | g.53811362G>C | CA353259710 | CACNA1D | c.6502G>C (p.Glu2168Gln) n.1831G>C n.3441G>C n.1877G>C c.6442G>C (p.Glu2148Gln) c.6370G>C (p.Glu2124Gln) c.2563G>C c.6397G>C (p.Glu2133Gln) n.1869G>C c.6469G>C (p.Glu2157Gln) c.5521G>C (p.Glu1841Gln) c.6697G>C (p.Glu2233Gln) c.6586G>C (p.Glu2196Gln) c.6508G>C (p.Glu2170Gln) c.6160G>C (p.Glu2054Gln) c.5785G>C (p.Glu1929Gln) c.6592G>C (p.Glu2198Gln) c.6694G>C (p.Glu2232Gln) c.6670G>C (p.Glu2224Gln) c.6637G>C (p.Glu2213Gln) c.6613G>C (p.Glu2205Gln) c.6568G>C (p.Glu2190Gln) | |
3 | g.53811362G>T | CA353259712 | CACNA1D | c.6502G>T (p.Glu2168Ter) n.1831G>T n.3441G>T n.1877G>T c.6442G>T (p.Glu2148Ter) c.6370G>T (p.Glu2124Ter) c.2563G>T c.6397G>T (p.Glu2133Ter) n.1869G>T c.6469G>T (p.Glu2157Ter) c.5521G>T (p.Glu1841Ter) c.6697G>T (p.Glu2233Ter) c.6586G>T (p.Glu2196Ter) c.6508G>T (p.Glu2170Ter) c.6160G>T (p.Glu2054Ter) c.5785G>T (p.Glu1929Ter) c.6592G>T (p.Glu2198Ter) c.6694G>T (p.Glu2232Ter) c.6670G>T (p.Glu2224Ter) c.6637G>T (p.Glu2213Ter) c.6613G>T (p.Glu2205Ter) c.6568G>T (p.Glu2190Ter) | |
3 | g.53811367_53811369dup | CA2666142678 | CACNA1D | c.6507_6509dup (p.Glu2169_Asp2170insGlu) n.1836_1838dup n.3446_3448dup n.1882_1884dup c.6447_6449dup (p.Glu2149_Asp2150insGlu) c.6375_6377dup (p.Glu2125_Asp2126insGlu) c.2568_2570dup c.6402_6404dup (p.Glu2134_Asp2135insGlu) n.1874_1876dup c.6474_6476dup (p.Glu2158_Asp2159insGlu) c.5526_5528dup (p.Glu1842_Asp1843insGlu) c.6702_6704dup (p.Glu2234_Asp2235insGlu) c.6591_6593dup (p.Glu2197_Asp2198insGlu) c.6513_6515dup (p.Glu2171_Asp2172insGlu) c.6165_6167dup (p.Glu2055_Asp2056insGlu) c.5790_5792dup (p.Glu1930_Asp1931insGlu) c.6597_6599dup (p.Glu2199_Asp2200insGlu) c.6699_6701dup (p.Glu2233_Asp2234insGlu) c.6675_6677dup (p.Glu2225_Asp2226insGlu) c.6642_6644dup (p.Glu2214_Asp2215insGlu) c.6618_6620dup (p.Glu2206_Asp2207insGlu) c.6573_6575dup (p.Glu2191_Asp2192insGlu) | gnomAD v4 |
3 | g.53811367_53811369del | CA543530601 | CACNA1D | c.6507_6509del (p.Glu2169del) n.1836_1838del n.3446_3448del n.1882_1884del c.6447_6449del (p.Glu2149del) c.6375_6377del (p.Glu2125del) c.2568_2570del c.6402_6404del (p.Glu2134del) n.1874_1876del c.6474_6476del (p.Glu2158del) c.5526_5528del (p.Glu1842del) c.6702_6704del (p.Glu2234del) c.6591_6593del (p.Glu2197del) c.6513_6515del (p.Glu2171del) c.6165_6167del (p.Glu2055del) c.5790_5792del (p.Glu1930del) c.6597_6599del (p.Glu2199del) c.6699_6701del (p.Glu2233del) c.6675_6677del (p.Glu2225del) c.6642_6644del (p.Glu2214del) c.6618_6620del (p.Glu2206del) c.6573_6575del (p.Glu2191del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.53811363A>C | CA353259715 | CACNA1D | c.6503A>C (p.Glu2168Ala) n.1832A>C n.3442A>C n.1878A>C c.6443A>C (p.Glu2148Ala) c.6371A>C (p.Glu2124Ala) c.2564A>C c.6398A>C (p.Glu2133Ala) n.1870A>C c.6470A>C (p.Glu2157Ala) c.5522A>C (p.Glu1841Ala) c.6698A>C (p.Glu2233Ala) c.6587A>C (p.Glu2196Ala) c.6509A>C (p.Glu2170Ala) c.6161A>C (p.Glu2054Ala) c.5786A>C (p.Glu1929Ala) c.6593A>C (p.Glu2198Ala) c.6695A>C (p.Glu2232Ala) c.6671A>C (p.Glu2224Ala) c.6638A>C (p.Glu2213Ala) c.6614A>C (p.Glu2205Ala) c.6569A>C (p.Glu2190Ala) | |
3 | g.53811363A>G | CA353259717 | CACNA1D | c.6503A>G (p.Glu2168Gly) n.1832A>G n.3442A>G n.1878A>G c.6443A>G (p.Glu2148Gly) c.6371A>G (p.Glu2124Gly) c.2564A>G c.6398A>G (p.Glu2133Gly) n.1870A>G c.6470A>G (p.Glu2157Gly) c.5522A>G (p.Glu1841Gly) c.6698A>G (p.Glu2233Gly) c.6587A>G (p.Glu2196Gly) c.6509A>G (p.Glu2170Gly) c.6161A>G (p.Glu2054Gly) c.5786A>G (p.Glu1929Gly) c.6593A>G (p.Glu2198Gly) c.6695A>G (p.Glu2232Gly) c.6671A>G (p.Glu2224Gly) c.6638A>G (p.Glu2213Gly) c.6614A>G (p.Glu2205Gly) c.6569A>G (p.Glu2190Gly) | |
3 | g.53811363A>T | CA353259720 | CACNA1D | c.6503A>T (p.Glu2168Val) n.1832A>T n.3442A>T n.1878A>T c.6443A>T (p.Glu2148Val) c.6371A>T (p.Glu2124Val) c.2564A>T c.6398A>T (p.Glu2133Val) n.1870A>T c.6470A>T (p.Glu2157Val) c.5522A>T (p.Glu1841Val) c.6698A>T (p.Glu2233Val) c.6587A>T (p.Glu2196Val) c.6509A>T (p.Glu2170Val) c.6161A>T (p.Glu2054Val) c.5786A>T (p.Glu1929Val) c.6593A>T (p.Glu2198Val) c.6695A>T (p.Glu2232Val) c.6671A>T (p.Glu2224Val) c.6638A>T (p.Glu2213Val) c.6614A>T (p.Glu2205Val) c.6569A>T (p.Glu2190Val) | |
3 | g.53811364G>A | CA2455451 | CACNA1D | c.6504G>A (p.Glu2168=) n.1833G>A n.3443G>A n.1879G>A c.6444G>A (p.Glu2148=) c.6372G>A (p.Glu2124=) c.2565G>A c.6399G>A (p.Glu2133=) n.1871G>A c.6471G>A (p.Glu2157=) c.5523G>A (p.Glu1841=) c.6699G>A (p.Glu2233=) c.6588G>A (p.Glu2196=) c.6510G>A (p.Glu2170=) c.6162G>A (p.Glu2054=) c.5787G>A (p.Glu1929=) c.6594G>A (p.Glu2198=) c.6696G>A (p.Glu2232=) c.6672G>A (p.Glu2224=) c.6639G>A (p.Glu2213=) c.6615G>A (p.Glu2205=) c.6570G>A (p.Glu2190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811364G>C | CA353259726 | CACNA1D | c.6504G>C (p.Glu2168Asp) n.1833G>C n.3443G>C n.1879G>C c.6444G>C (p.Glu2148Asp) c.6372G>C (p.Glu2124Asp) c.2565G>C c.6399G>C (p.Glu2133Asp) n.1871G>C c.6471G>C (p.Glu2157Asp) c.5523G>C (p.Glu1841Asp) c.6699G>C (p.Glu2233Asp) c.6588G>C (p.Glu2196Asp) c.6510G>C (p.Glu2170Asp) c.6162G>C (p.Glu2054Asp) c.5787G>C (p.Glu1929Asp) c.6594G>C (p.Glu2198Asp) c.6696G>C (p.Glu2232Asp) c.6672G>C (p.Glu2224Asp) c.6639G>C (p.Glu2213Asp) c.6615G>C (p.Glu2205Asp) c.6570G>C (p.Glu2190Asp) | |
3 | g.53811364G= | CA1365489057 | CACNA1D | c.6504G= (p.Glu2168=) n.1833G= n.3443G= n.1879G= c.6444G= (p.Glu2148=) c.6372G= (p.Glu2124=) c.2565G= c.6399G= (p.Glu2133=) n.1871G= c.6471G= (p.Glu2157=) c.5523G= (p.Glu1841=) c.6699G= (p.Glu2233=) c.6588G= (p.Glu2196=) c.6510G= (p.Glu2170=) c.6162G= (p.Glu2054=) c.5787G= (p.Glu1929=) c.6594G= (p.Glu2198=) c.6696G= (p.Glu2232=) c.6672G= (p.Glu2224=) c.6639G= (p.Glu2213=) c.6615G= (p.Glu2205=) c.6570G= (p.Glu2190=) | |
3 | g.53811364G>T | CA353259723 | CACNA1D | c.6504G>T (p.Glu2168Asp) n.1833G>T n.3443G>T n.1879G>T c.6444G>T (p.Glu2148Asp) c.6372G>T (p.Glu2124Asp) c.2565G>T c.6399G>T (p.Glu2133Asp) n.1871G>T c.6471G>T (p.Glu2157Asp) c.5523G>T (p.Glu1841Asp) c.6699G>T (p.Glu2233Asp) c.6588G>T (p.Glu2196Asp) c.6510G>T (p.Glu2170Asp) c.6162G>T (p.Glu2054Asp) c.5787G>T (p.Glu1929Asp) c.6594G>T (p.Glu2198Asp) c.6696G>T (p.Glu2232Asp) c.6672G>T (p.Glu2224Asp) c.6639G>T (p.Glu2213Asp) c.6615G>T (p.Glu2205Asp) c.6570G>T (p.Glu2190Asp) | |
3 | g.53811365G>A | CA353259731 | CACNA1D | c.6505G>A (p.Glu2169Lys) n.1834G>A n.3444G>A n.1880G>A c.6445G>A (p.Glu2149Lys) c.6373G>A (p.Glu2125Lys) c.2566G>A c.6400G>A (p.Glu2134Lys) n.1872G>A c.6472G>A (p.Glu2158Lys) c.5524G>A (p.Glu1842Lys) c.6700G>A (p.Glu2234Lys) c.6589G>A (p.Glu2197Lys) c.6511G>A (p.Glu2171Lys) c.6163G>A (p.Glu2055Lys) c.5788G>A (p.Glu1930Lys) c.6595G>A (p.Glu2199Lys) c.6697G>A (p.Glu2233Lys) c.6673G>A (p.Glu2225Lys) c.6640G>A (p.Glu2214Lys) c.6616G>A (p.Glu2206Lys) c.6571G>A (p.Glu2191Lys) | gnomAD v4 |
3 | g.53811365G>C | CA353259733 | CACNA1D | c.6505G>C (p.Glu2169Gln) n.1834G>C n.3444G>C n.1880G>C c.6445G>C (p.Glu2149Gln) c.6373G>C (p.Glu2125Gln) c.2566G>C c.6400G>C (p.Glu2134Gln) n.1872G>C c.6472G>C (p.Glu2158Gln) c.5524G>C (p.Glu1842Gln) c.6700G>C (p.Glu2234Gln) c.6589G>C (p.Glu2197Gln) c.6511G>C (p.Glu2171Gln) c.6163G>C (p.Glu2055Gln) c.5788G>C (p.Glu1930Gln) c.6595G>C (p.Glu2199Gln) c.6697G>C (p.Glu2233Gln) c.6673G>C (p.Glu2225Gln) c.6640G>C (p.Glu2214Gln) c.6616G>C (p.Glu2206Gln) c.6571G>C (p.Glu2191Gln) | gnomAD v4 |
3 | g.53811365G>T | CA353259735 | CACNA1D | c.6505G>T (p.Glu2169Ter) n.1834G>T n.3444G>T n.1880G>T c.6445G>T (p.Glu2149Ter) c.6373G>T (p.Glu2125Ter) c.2566G>T c.6400G>T (p.Glu2134Ter) n.1872G>T c.6472G>T (p.Glu2158Ter) c.5524G>T (p.Glu1842Ter) c.6700G>T (p.Glu2234Ter) c.6589G>T (p.Glu2197Ter) c.6511G>T (p.Glu2171Ter) c.6163G>T (p.Glu2055Ter) c.5788G>T (p.Glu1930Ter) c.6595G>T (p.Glu2199Ter) c.6697G>T (p.Glu2233Ter) c.6673G>T (p.Glu2225Ter) c.6640G>T (p.Glu2214Ter) c.6616G>T (p.Glu2206Ter) c.6571G>T (p.Glu2191Ter) | |
3 | g.53811366A>C | CA353259738 | CACNA1D | c.6506A>C (p.Glu2169Ala) n.1835A>C n.3445A>C n.1881A>C c.6446A>C (p.Glu2149Ala) c.6374A>C (p.Glu2125Ala) c.2567A>C c.6401A>C (p.Glu2134Ala) n.1873A>C c.6473A>C (p.Glu2158Ala) c.5525A>C (p.Glu1842Ala) c.6701A>C (p.Glu2234Ala) c.6590A>C (p.Glu2197Ala) c.6512A>C (p.Glu2171Ala) c.6164A>C (p.Glu2055Ala) c.5789A>C (p.Glu1930Ala) c.6596A>C (p.Glu2199Ala) c.6698A>C (p.Glu2233Ala) c.6674A>C (p.Glu2225Ala) c.6641A>C (p.Glu2214Ala) c.6617A>C (p.Glu2206Ala) c.6572A>C (p.Glu2191Ala) | |
3 | g.53811366A>G | CA353259740 | CACNA1D | c.6506A>G (p.Glu2169Gly) n.1835A>G n.3445A>G n.1881A>G c.6446A>G (p.Glu2149Gly) c.6374A>G (p.Glu2125Gly) c.2567A>G c.6401A>G (p.Glu2134Gly) n.1873A>G c.6473A>G (p.Glu2158Gly) c.5525A>G (p.Glu1842Gly) c.6701A>G (p.Glu2234Gly) c.6590A>G (p.Glu2197Gly) c.6512A>G (p.Glu2171Gly) c.6164A>G (p.Glu2055Gly) c.5789A>G (p.Glu1930Gly) c.6596A>G (p.Glu2199Gly) c.6698A>G (p.Glu2233Gly) c.6674A>G (p.Glu2225Gly) c.6641A>G (p.Glu2214Gly) c.6617A>G (p.Glu2206Gly) c.6572A>G (p.Glu2191Gly) | |
3 | g.53811366A>T | CA353259743 | CACNA1D | c.6506A>T (p.Glu2169Val) n.1835A>T n.3445A>T n.1881A>T c.6446A>T (p.Glu2149Val) c.6374A>T (p.Glu2125Val) c.2567A>T c.6401A>T (p.Glu2134Val) n.1873A>T c.6473A>T (p.Glu2158Val) c.5525A>T (p.Glu1842Val) c.6701A>T (p.Glu2234Val) c.6590A>T (p.Glu2197Val) c.6512A>T (p.Glu2171Val) c.6164A>T (p.Glu2055Val) c.5789A>T (p.Glu1930Val) c.6596A>T (p.Glu2199Val) c.6698A>T (p.Glu2233Val) c.6674A>T (p.Glu2225Val) c.6641A>T (p.Glu2214Val) c.6617A>T (p.Glu2206Val) c.6572A>T (p.Glu2191Val) | |
3 | g.53811367G>A | CA433895882 | CACNA1D | c.6507G>A (p.Glu2169=) n.1836G>A n.3446G>A n.1882G>A c.6447G>A (p.Glu2149=) c.6375G>A (p.Glu2125=) c.2568G>A c.6402G>A (p.Glu2134=) n.1874G>A c.6474G>A (p.Glu2158=) c.5526G>A (p.Glu1842=) c.6702G>A (p.Glu2234=) c.6591G>A (p.Glu2197=) c.6513G>A (p.Glu2171=) c.6165G>A (p.Glu2055=) c.5790G>A (p.Glu1930=) c.6597G>A (p.Glu2199=) c.6699G>A (p.Glu2233=) c.6675G>A (p.Glu2225=) c.6642G>A (p.Glu2214=) c.6618G>A (p.Glu2206=) c.6573G>A (p.Glu2191=) | gnomAD v4 |
3 | g.53811367G>C | CA353259746 | CACNA1D | c.6507G>C (p.Glu2169Asp) n.1836G>C n.3446G>C n.1882G>C c.6447G>C (p.Glu2149Asp) c.6375G>C (p.Glu2125Asp) c.2568G>C c.6402G>C (p.Glu2134Asp) n.1874G>C c.6474G>C (p.Glu2158Asp) c.5526G>C (p.Glu1842Asp) c.6702G>C (p.Glu2234Asp) c.6591G>C (p.Glu2197Asp) c.6513G>C (p.Glu2171Asp) c.6165G>C (p.Glu2055Asp) c.5790G>C (p.Glu1930Asp) c.6597G>C (p.Glu2199Asp) c.6699G>C (p.Glu2233Asp) c.6675G>C (p.Glu2225Asp) c.6642G>C (p.Glu2214Asp) c.6618G>C (p.Glu2206Asp) c.6573G>C (p.Glu2191Asp) | COSMIC |
3 | g.53811367G>T | CA353259748 | CACNA1D | c.6507G>T (p.Glu2169Asp) n.1836G>T n.3446G>T n.1882G>T c.6447G>T (p.Glu2149Asp) c.6375G>T (p.Glu2125Asp) c.2568G>T c.6402G>T (p.Glu2134Asp) n.1874G>T c.6474G>T (p.Glu2158Asp) c.5526G>T (p.Glu1842Asp) c.6702G>T (p.Glu2234Asp) c.6591G>T (p.Glu2197Asp) c.6513G>T (p.Glu2171Asp) c.6165G>T (p.Glu2055Asp) c.5790G>T (p.Glu1930Asp) c.6597G>T (p.Glu2199Asp) c.6699G>T (p.Glu2233Asp) c.6675G>T (p.Glu2225Asp) c.6642G>T (p.Glu2214Asp) c.6618G>T (p.Glu2206Asp) c.6573G>T (p.Glu2191Asp) | COSMIC COSMIC |
3 | g.53811368G>A | CA353259751 | CACNA1D | c.6508G>A (p.Asp2170Asn) n.1837G>A n.3447G>A n.1883G>A c.6448G>A (p.Asp2150Asn) c.6376G>A (p.Asp2126Asn) c.2569G>A c.6403G>A (p.Asp2135Asn) n.1875G>A c.6475G>A (p.Asp2159Asn) c.5527G>A (p.Asp1843Asn) c.6703G>A (p.Asp2235Asn) c.6592G>A (p.Asp2198Asn) c.6514G>A (p.Asp2172Asn) c.6166G>A (p.Asp2056Asn) c.5791G>A (p.Asp1931Asn) c.6598G>A (p.Asp2200Asn) c.6700G>A (p.Asp2234Asn) c.6676G>A (p.Asp2226Asn) c.6643G>A (p.Asp2215Asn) c.6619G>A (p.Asp2207Asn) c.6574G>A (p.Asp2192Asn) | gnomAD v4 |
3 | g.53811368G>C | CA353259753 | CACNA1D | c.6508G>C (p.Asp2170His) n.1837G>C n.3447G>C n.1883G>C c.6448G>C (p.Asp2150His) c.6376G>C (p.Asp2126His) c.2569G>C c.6403G>C (p.Asp2135His) n.1875G>C c.6475G>C (p.Asp2159His) c.5527G>C (p.Asp1843His) c.6703G>C (p.Asp2235His) c.6592G>C (p.Asp2198His) c.6514G>C (p.Asp2172His) c.6166G>C (p.Asp2056His) c.5791G>C (p.Asp1931His) c.6598G>C (p.Asp2200His) c.6700G>C (p.Asp2234His) c.6676G>C (p.Asp2226His) c.6643G>C (p.Asp2215His) c.6619G>C (p.Asp2207His) c.6574G>C (p.Asp2192His) | |
3 | g.53811368G>T | CA353259756 | CACNA1D | c.6508G>T (p.Asp2170Tyr) n.1837G>T n.3447G>T n.1883G>T c.6448G>T (p.Asp2150Tyr) c.6376G>T (p.Asp2126Tyr) c.2569G>T c.6403G>T (p.Asp2135Tyr) n.1875G>T c.6475G>T (p.Asp2159Tyr) c.5527G>T (p.Asp1843Tyr) c.6703G>T (p.Asp2235Tyr) c.6592G>T (p.Asp2198Tyr) c.6514G>T (p.Asp2172Tyr) c.6166G>T (p.Asp2056Tyr) c.5791G>T (p.Asp1931Tyr) c.6598G>T (p.Asp2200Tyr) c.6700G>T (p.Asp2234Tyr) c.6676G>T (p.Asp2226Tyr) c.6643G>T (p.Asp2215Tyr) c.6619G>T (p.Asp2207Tyr) c.6574G>T (p.Asp2192Tyr) | |
3 | g.53811369A>C | CA353259764 | CACNA1D | c.6509A>C (p.Asp2170Ala) n.1838A>C n.3448A>C n.1884A>C c.6449A>C (p.Asp2150Ala) c.6377A>C (p.Asp2126Ala) c.2570A>C c.6404A>C (p.Asp2135Ala) n.1876A>C c.6476A>C (p.Asp2159Ala) c.5528A>C (p.Asp1843Ala) c.6704A>C (p.Asp2235Ala) c.6593A>C (p.Asp2198Ala) c.6515A>C (p.Asp2172Ala) c.6167A>C (p.Asp2056Ala) c.5792A>C (p.Asp1931Ala) c.6599A>C (p.Asp2200Ala) c.6701A>C (p.Asp2234Ala) c.6677A>C (p.Asp2226Ala) c.6644A>C (p.Asp2215Ala) c.6620A>C (p.Asp2207Ala) c.6575A>C (p.Asp2192Ala) | |
3 | g.53811369A>G | CA353259762 | CACNA1D | c.6509A>G (p.Asp2170Gly) n.1838A>G n.3448A>G n.1884A>G c.6449A>G (p.Asp2150Gly) c.6377A>G (p.Asp2126Gly) c.2570A>G c.6404A>G (p.Asp2135Gly) n.1876A>G c.6476A>G (p.Asp2159Gly) c.5528A>G (p.Asp1843Gly) c.6704A>G (p.Asp2235Gly) c.6593A>G (p.Asp2198Gly) c.6515A>G (p.Asp2172Gly) c.6167A>G (p.Asp2056Gly) c.5792A>G (p.Asp1931Gly) c.6599A>G (p.Asp2200Gly) c.6701A>G (p.Asp2234Gly) c.6677A>G (p.Asp2226Gly) c.6644A>G (p.Asp2215Gly) c.6620A>G (p.Asp2207Gly) c.6575A>G (p.Asp2192Gly) | |
3 | g.53811369A>T | CA353259759 | CACNA1D | c.6509A>T (p.Asp2170Val) n.1838A>T n.3448A>T n.1884A>T c.6449A>T (p.Asp2150Val) c.6377A>T (p.Asp2126Val) c.2570A>T c.6404A>T (p.Asp2135Val) n.1876A>T c.6476A>T (p.Asp2159Val) c.5528A>T (p.Asp1843Val) c.6704A>T (p.Asp2235Val) c.6593A>T (p.Asp2198Val) c.6515A>T (p.Asp2172Val) c.6167A>T (p.Asp2056Val) c.5792A>T (p.Asp1931Val) c.6599A>T (p.Asp2200Val) c.6701A>T (p.Asp2234Val) c.6677A>T (p.Asp2226Val) c.6644A>T (p.Asp2215Val) c.6620A>T (p.Asp2207Val) c.6575A>T (p.Asp2192Val) | |
3 | g.53811370C>A | CA353259768 | CACNA1D | c.6510C>A (p.Asp2170Glu) n.1839C>A n.3449C>A n.1885C>A c.6450C>A (p.Asp2150Glu) c.6378C>A (p.Asp2126Glu) c.2571C>A c.6405C>A (p.Asp2135Glu) n.1877C>A c.6477C>A (p.Asp2159Glu) c.5529C>A (p.Asp1843Glu) c.6705C>A (p.Asp2235Glu) c.6594C>A (p.Asp2198Glu) c.6516C>A (p.Asp2172Glu) c.6168C>A (p.Asp2056Glu) c.5793C>A (p.Asp1931Glu) c.6600C>A (p.Asp2200Glu) c.6702C>A (p.Asp2234Glu) c.6678C>A (p.Asp2226Glu) c.6645C>A (p.Asp2215Glu) c.6621C>A (p.Asp2207Glu) c.6576C>A (p.Asp2192Glu) | |
3 | g.53811370C>G | CA353259771 | CACNA1D | c.6510C>G (p.Asp2170Glu) n.1839C>G n.3449C>G n.1885C>G c.6450C>G (p.Asp2150Glu) c.6378C>G (p.Asp2126Glu) c.2571C>G c.6405C>G (p.Asp2135Glu) n.1877C>G c.6477C>G (p.Asp2159Glu) c.5529C>G (p.Asp1843Glu) c.6705C>G (p.Asp2235Glu) c.6594C>G (p.Asp2198Glu) c.6516C>G (p.Asp2172Glu) c.6168C>G (p.Asp2056Glu) c.5793C>G (p.Asp1931Glu) c.6600C>G (p.Asp2200Glu) c.6702C>G (p.Asp2234Glu) c.6678C>G (p.Asp2226Glu) c.6645C>G (p.Asp2215Glu) c.6621C>G (p.Asp2207Glu) c.6576C>G (p.Asp2192Glu) | |
3 | g.53811370C>T | CA433895890 | CACNA1D | c.6510C>T (p.Asp2170=) n.1839C>T n.3449C>T n.1885C>T c.6450C>T (p.Asp2150=) c.6378C>T (p.Asp2126=) c.2571C>T c.6405C>T (p.Asp2135=) n.1877C>T c.6477C>T (p.Asp2159=) c.5529C>T (p.Asp1843=) c.6705C>T (p.Asp2235=) c.6594C>T (p.Asp2198=) c.6516C>T (p.Asp2172=) c.6168C>T (p.Asp2056=) c.5793C>T (p.Asp1931=) c.6600C>T (p.Asp2200=) c.6702C>T (p.Asp2234=) c.6678C>T (p.Asp2226=) c.6645C>T (p.Asp2215=) c.6621C>T (p.Asp2207=) c.6576C>T (p.Asp2192=) | gnomAD v4 COSMIC COSMIC |
3 | g.53811371C>A | CA353259774 | CACNA1D | c.6511C>A (p.Leu2171Met) n.1840C>A n.3450C>A n.1886C>A c.6451C>A (p.Leu2151Met) c.6379C>A (p.Leu2127Met) c.2572C>A c.6406C>A (p.Leu2136Met) n.1878C>A c.6478C>A (p.Leu2160Met) c.5530C>A (p.Leu1844Met) c.6706C>A (p.Leu2236Met) c.6595C>A (p.Leu2199Met) c.6517C>A (p.Leu2173Met) c.6169C>A (p.Leu2057Met) c.5794C>A (p.Leu1932Met) c.6601C>A (p.Leu2201Met) c.6703C>A (p.Leu2235Met) c.6679C>A (p.Leu2227Met) c.6646C>A (p.Leu2216Met) c.6622C>A (p.Leu2208Met) c.6577C>A (p.Leu2193Met) | |
3 | g.53811371C>G | CA353259776 | CACNA1D | c.6511C>G (p.Leu2171Val) n.1840C>G n.3450C>G n.1886C>G c.6451C>G (p.Leu2151Val) c.6379C>G (p.Leu2127Val) c.2572C>G c.6406C>G (p.Leu2136Val) n.1878C>G c.6478C>G (p.Leu2160Val) c.5530C>G (p.Leu1844Val) c.6706C>G (p.Leu2236Val) c.6595C>G (p.Leu2199Val) c.6517C>G (p.Leu2173Val) c.6169C>G (p.Leu2057Val) c.5794C>G (p.Leu1932Val) c.6601C>G (p.Leu2201Val) c.6703C>G (p.Leu2235Val) c.6679C>G (p.Leu2227Val) c.6646C>G (p.Leu2216Val) c.6622C>G (p.Leu2208Val) c.6577C>G (p.Leu2193Val) | |
3 | g.53811371C>T | CA433895892 | CACNA1D | c.6511C>T (p.Leu2171=) n.1840C>T n.3450C>T n.1886C>T c.6451C>T (p.Leu2151=) c.6379C>T (p.Leu2127=) c.2572C>T c.6406C>T (p.Leu2136=) n.1878C>T c.6478C>T (p.Leu2160=) c.5530C>T (p.Leu1844=) c.6706C>T (p.Leu2236=) c.6595C>T (p.Leu2199=) c.6517C>T (p.Leu2173=) c.6169C>T (p.Leu2057=) c.5794C>T (p.Leu1932=) c.6601C>T (p.Leu2201=) c.6703C>T (p.Leu2235=) c.6679C>T (p.Leu2227=) c.6646C>T (p.Leu2216=) c.6622C>T (p.Leu2208=) c.6577C>T (p.Leu2193=) | COSMIC COSMIC |
3 | g.53811372T>A | CA353259779 | CACNA1D | c.6512T>A (p.Leu2171Gln) n.1841T>A n.3451T>A n.1887T>A c.6452T>A (p.Leu2151Gln) c.6380T>A (p.Leu2127Gln) c.2573T>A c.6407T>A (p.Leu2136Gln) n.1879T>A c.6479T>A (p.Leu2160Gln) c.5531T>A (p.Leu1844Gln) c.6707T>A (p.Leu2236Gln) c.6596T>A (p.Leu2199Gln) c.6518T>A (p.Leu2173Gln) c.6170T>A (p.Leu2057Gln) c.5795T>A (p.Leu1932Gln) c.6602T>A (p.Leu2201Gln) c.6704T>A (p.Leu2235Gln) c.6680T>A (p.Leu2227Gln) c.6647T>A (p.Leu2216Gln) c.6623T>A (p.Leu2208Gln) c.6578T>A (p.Leu2193Gln) | |
3 | g.53811372T>C | CA353259781 | CACNA1D | c.6512T>C (p.Leu2171Pro) n.1841T>C n.3451T>C n.1887T>C c.6452T>C (p.Leu2151Pro) c.6380T>C (p.Leu2127Pro) c.2573T>C c.6407T>C (p.Leu2136Pro) n.1879T>C c.6479T>C (p.Leu2160Pro) c.5531T>C (p.Leu1844Pro) c.6707T>C (p.Leu2236Pro) c.6596T>C (p.Leu2199Pro) c.6518T>C (p.Leu2173Pro) c.6170T>C (p.Leu2057Pro) c.5795T>C (p.Leu1932Pro) c.6602T>C (p.Leu2201Pro) c.6704T>C (p.Leu2235Pro) c.6680T>C (p.Leu2227Pro) c.6647T>C (p.Leu2216Pro) c.6623T>C (p.Leu2208Pro) c.6578T>C (p.Leu2193Pro) | gnomAD v4 |
3 | g.53811372T>G | CA353259783 | CACNA1D | c.6512T>G (p.Leu2171Arg) n.1841T>G n.3451T>G n.1887T>G c.6452T>G (p.Leu2151Arg) c.6380T>G (p.Leu2127Arg) c.2573T>G c.6407T>G (p.Leu2136Arg) n.1879T>G c.6479T>G (p.Leu2160Arg) c.5531T>G (p.Leu1844Arg) c.6707T>G (p.Leu2236Arg) c.6596T>G (p.Leu2199Arg) c.6518T>G (p.Leu2173Arg) c.6170T>G (p.Leu2057Arg) c.5795T>G (p.Leu1932Arg) c.6602T>G (p.Leu2201Arg) c.6704T>G (p.Leu2235Arg) c.6680T>G (p.Leu2227Arg) c.6647T>G (p.Leu2216Arg) c.6623T>G (p.Leu2208Arg) c.6578T>G (p.Leu2193Arg) | |
3 | g.53811373G>A | CA433895895 | CACNA1D | c.6513G>A (p.Leu2171=) n.1842G>A n.3452G>A n.1888G>A c.6453G>A (p.Leu2151=) c.6381G>A (p.Leu2127=) c.2574G>A c.6408G>A (p.Leu2136=) n.1880G>A c.6480G>A (p.Leu2160=) c.5532G>A (p.Leu1844=) c.6708G>A (p.Leu2236=) c.6597G>A (p.Leu2199=) c.6519G>A (p.Leu2173=) c.6171G>A (p.Leu2057=) c.5796G>A (p.Leu1932=) c.6603G>A (p.Leu2201=) c.6705G>A (p.Leu2235=) c.6681G>A (p.Leu2227=) c.6648G>A (p.Leu2216=) c.6624G>A (p.Leu2208=) c.6579G>A (p.Leu2193=) | |
3 | g.53811373G>C | CA433895896 | CACNA1D | c.6513G>C (p.Leu2171=) n.1842G>C n.3452G>C n.1888G>C c.6453G>C (p.Leu2151=) c.6381G>C (p.Leu2127=) c.2574G>C c.6408G>C (p.Leu2136=) n.1880G>C c.6480G>C (p.Leu2160=) c.5532G>C (p.Leu1844=) c.6708G>C (p.Leu2236=) c.6597G>C (p.Leu2199=) c.6519G>C (p.Leu2173=) c.6171G>C (p.Leu2057=) c.5796G>C (p.Leu1932=) c.6603G>C (p.Leu2201=) c.6705G>C (p.Leu2235=) c.6681G>C (p.Leu2227=) c.6648G>C (p.Leu2216=) c.6624G>C (p.Leu2208=) c.6579G>C (p.Leu2193=) | |
3 | g.53811373G>T | CA433895898 | CACNA1D | c.6513G>T (p.Leu2171=) n.1842G>T n.3452G>T n.1888G>T c.6453G>T (p.Leu2151=) c.6381G>T (p.Leu2127=) c.2574G>T c.6408G>T (p.Leu2136=) n.1880G>T c.6480G>T (p.Leu2160=) c.5532G>T (p.Leu1844=) c.6708G>T (p.Leu2236=) c.6597G>T (p.Leu2199=) c.6519G>T (p.Leu2173=) c.6171G>T (p.Leu2057=) c.5796G>T (p.Leu1932=) c.6603G>T (p.Leu2201=) c.6705G>T (p.Leu2235=) c.6681G>T (p.Leu2227=) c.6648G>T (p.Leu2216=) c.6624G>T (p.Leu2208=) c.6579G>T (p.Leu2193=) | |
3 | g.53811374G>A | CA353259787 | CACNA1D | c.6514G>A (p.Ala2172Thr) n.1843G>A n.3453G>A n.1889G>A c.6454G>A (p.Ala2152Thr) c.6382G>A (p.Ala2128Thr) c.2575G>A c.6409G>A (p.Ala2137Thr) n.1881G>A c.6481G>A (p.Ala2161Thr) c.5533G>A (p.Ala1845Thr) c.6709G>A (p.Ala2237Thr) c.6598G>A (p.Ala2200Thr) c.6520G>A (p.Ala2174Thr) c.6172G>A (p.Ala2058Thr) c.5797G>A (p.Ala1933Thr) c.6604G>A (p.Ala2202Thr) c.6706G>A (p.Ala2236Thr) c.6682G>A (p.Ala2228Thr) c.6649G>A (p.Ala2217Thr) c.6625G>A (p.Ala2209Thr) c.6580G>A (p.Ala2194Thr) | |
3 | g.53811374G>C | CA353259791 | CACNA1D | c.6514G>C (p.Ala2172Pro) n.1843G>C n.3453G>C n.1889G>C c.6454G>C (p.Ala2152Pro) c.6382G>C (p.Ala2128Pro) c.2575G>C c.6409G>C (p.Ala2137Pro) n.1881G>C c.6481G>C (p.Ala2161Pro) c.5533G>C (p.Ala1845Pro) c.6709G>C (p.Ala2237Pro) c.6598G>C (p.Ala2200Pro) c.6520G>C (p.Ala2174Pro) c.6172G>C (p.Ala2058Pro) c.5797G>C (p.Ala1933Pro) c.6604G>C (p.Ala2202Pro) c.6706G>C (p.Ala2236Pro) c.6682G>C (p.Ala2228Pro) c.6649G>C (p.Ala2217Pro) c.6625G>C (p.Ala2209Pro) c.6580G>C (p.Ala2194Pro) | |
3 | g.53811374G>T | CA353259789 | CACNA1D | c.6514G>T (p.Ala2172Ser) n.1843G>T n.3453G>T n.1889G>T c.6454G>T (p.Ala2152Ser) c.6382G>T (p.Ala2128Ser) c.2575G>T c.6409G>T (p.Ala2137Ser) n.1881G>T c.6481G>T (p.Ala2161Ser) c.5533G>T (p.Ala1845Ser) c.6709G>T (p.Ala2237Ser) c.6598G>T (p.Ala2200Ser) c.6520G>T (p.Ala2174Ser) c.6172G>T (p.Ala2058Ser) c.5797G>T (p.Ala1933Ser) c.6604G>T (p.Ala2202Ser) c.6706G>T (p.Ala2236Ser) c.6682G>T (p.Ala2228Ser) c.6649G>T (p.Ala2217Ser) c.6625G>T (p.Ala2209Ser) c.6580G>T (p.Ala2194Ser) | gnomAD v4 |
3 | g.53811375C>A | CA353259794 | CACNA1D | c.6515C>A (p.Ala2172Glu) n.1844C>A n.3454C>A n.1890C>A c.6455C>A (p.Ala2152Glu) c.6383C>A (p.Ala2128Glu) c.2576C>A c.6410C>A (p.Ala2137Glu) n.1882C>A c.6482C>A (p.Ala2161Glu) c.5534C>A (p.Ala1845Glu) c.6710C>A (p.Ala2237Glu) c.6599C>A (p.Ala2200Glu) c.6521C>A (p.Ala2174Glu) c.6173C>A (p.Ala2058Glu) c.5798C>A (p.Ala1933Glu) c.6605C>A (p.Ala2202Glu) c.6707C>A (p.Ala2236Glu) c.6683C>A (p.Ala2228Glu) c.6650C>A (p.Ala2217Glu) c.6626C>A (p.Ala2209Glu) c.6581C>A (p.Ala2194Glu) | dbSNP gnomAD v4 |
3 | g.53811375C= | CA1365489058 | CACNA1D | c.6515C= (p.Ala2172=) n.1844C= n.3454C= n.1890C= c.6455C= (p.Ala2152=) c.6383C= (p.Ala2128=) c.2576C= c.6410C= (p.Ala2137=) n.1882C= c.6482C= (p.Ala2161=) c.5534C= (p.Ala1845=) c.6710C= (p.Ala2237=) c.6599C= (p.Ala2200=) c.6521C= (p.Ala2174=) c.6173C= (p.Ala2058=) c.5798C= (p.Ala1933=) c.6605C= (p.Ala2202=) c.6707C= (p.Ala2236=) c.6683C= (p.Ala2228=) c.6650C= (p.Ala2217=) c.6626C= (p.Ala2209=) c.6581C= (p.Ala2194=) | |
3 | g.53811375C>G | CA353259797 | CACNA1D | c.6515C>G (p.Ala2172Gly) n.1844C>G n.3454C>G n.1890C>G c.6455C>G (p.Ala2152Gly) c.6383C>G (p.Ala2128Gly) c.2576C>G c.6410C>G (p.Ala2137Gly) n.1882C>G c.6482C>G (p.Ala2161Gly) c.5534C>G (p.Ala1845Gly) c.6710C>G (p.Ala2237Gly) c.6599C>G (p.Ala2200Gly) c.6521C>G (p.Ala2174Gly) c.6173C>G (p.Ala2058Gly) c.5798C>G (p.Ala1933Gly) c.6605C>G (p.Ala2202Gly) c.6707C>G (p.Ala2236Gly) c.6683C>G (p.Ala2228Gly) c.6650C>G (p.Ala2217Gly) c.6626C>G (p.Ala2209Gly) c.6581C>G (p.Ala2194Gly) | |
3 | g.53811375C>T | CA74870271 | CACNA1D | c.6515C>T (p.Ala2172Val) n.1844C>T n.3454C>T n.1890C>T c.6455C>T (p.Ala2152Val) c.6383C>T (p.Ala2128Val) c.2576C>T c.6410C>T (p.Ala2137Val) n.1882C>T c.6482C>T (p.Ala2161Val) c.5534C>T (p.Ala1845Val) c.6710C>T (p.Ala2237Val) c.6599C>T (p.Ala2200Val) c.6521C>T (p.Ala2174Val) c.6173C>T (p.Ala2058Val) c.5798C>T (p.Ala1933Val) c.6605C>T (p.Ala2202Val) c.6707C>T (p.Ala2236Val) c.6683C>T (p.Ala2228Val) c.6650C>T (p.Ala2217Val) c.6626C>T (p.Ala2209Val) c.6581C>T (p.Ala2194Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.53811376G>A | CA2455452 | CACNA1D | c.6516G>A (p.Ala2172=) n.1845G>A n.3455G>A n.1891G>A c.6456G>A (p.Ala2152=) c.6384G>A (p.Ala2128=) c.2577G>A c.6411G>A (p.Ala2137=) n.1883G>A c.6483G>A (p.Ala2161=) c.5535G>A (p.Ala1845=) c.6711G>A (p.Ala2237=) c.6600G>A (p.Ala2200=) c.6522G>A (p.Ala2174=) c.6174G>A (p.Ala2058=) c.5799G>A (p.Ala1933=) c.6606G>A (p.Ala2202=) c.6708G>A (p.Ala2236=) c.6684G>A (p.Ala2228=) c.6651G>A (p.Ala2217=) c.6627G>A (p.Ala2209=) c.6582G>A (p.Ala2194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811376G>C | CA433895909 | CACNA1D | c.6516G>C (p.Ala2172=) n.1845G>C n.3455G>C n.1891G>C c.6456G>C (p.Ala2152=) c.6384G>C (p.Ala2128=) c.2577G>C c.6411G>C (p.Ala2137=) n.1883G>C c.6483G>C (p.Ala2161=) c.5535G>C (p.Ala1845=) c.6711G>C (p.Ala2237=) c.6600G>C (p.Ala2200=) c.6522G>C (p.Ala2174=) c.6174G>C (p.Ala2058=) c.5799G>C (p.Ala1933=) c.6606G>C (p.Ala2202=) c.6708G>C (p.Ala2236=) c.6684G>C (p.Ala2228=) c.6651G>C (p.Ala2217=) c.6627G>C (p.Ala2209=) c.6582G>C (p.Ala2194=) | gnomAD v4 |
3 | g.53811376G= | CA1365489059 | CACNA1D | c.6516G= (p.Ala2172=) n.1845G= n.3455G= n.1891G= c.6456G= (p.Ala2152=) c.6384G= (p.Ala2128=) c.2577G= c.6411G= (p.Ala2137=) n.1883G= c.6483G= (p.Ala2161=) c.5535G= (p.Ala1845=) c.6711G= (p.Ala2237=) c.6600G= (p.Ala2200=) c.6522G= (p.Ala2174=) c.6174G= (p.Ala2058=) c.5799G= (p.Ala1933=) c.6606G= (p.Ala2202=) c.6708G= (p.Ala2236=) c.6684G= (p.Ala2228=) c.6651G= (p.Ala2217=) c.6627G= (p.Ala2209=) c.6582G= (p.Ala2194=) | |
3 | g.53811376G>T | CA433895905 | CACNA1D | c.6516G>T (p.Ala2172=) n.1845G>T n.3455G>T n.1891G>T c.6456G>T (p.Ala2152=) c.6384G>T (p.Ala2128=) c.2577G>T c.6411G>T (p.Ala2137=) n.1883G>T c.6483G>T (p.Ala2161=) c.5535G>T (p.Ala1845=) c.6711G>T (p.Ala2237=) c.6600G>T (p.Ala2200=) c.6522G>T (p.Ala2174=) c.6174G>T (p.Ala2058=) c.5799G>T (p.Ala1933=) c.6606G>T (p.Ala2202=) c.6708G>T (p.Ala2236=) c.6684G>T (p.Ala2228=) c.6651G>T (p.Ala2217=) c.6627G>T (p.Ala2209=) c.6582G>T (p.Ala2194=) | |
3 | g.53811377G>A | CA353259809 | CACNA1D | c.6517G>A (p.Asp2173Asn) n.1846G>A n.3456G>A n.1892G>A c.6457G>A (p.Asp2153Asn) c.6385G>A (p.Asp2129Asn) c.2578G>A c.6412G>A (p.Asp2138Asn) n.1884G>A c.6484G>A (p.Asp2162Asn) c.5536G>A (p.Asp1846Asn) c.6712G>A (p.Asp2238Asn) c.6601G>A (p.Asp2201Asn) c.6523G>A (p.Asp2175Asn) c.6175G>A (p.Asp2059Asn) c.5800G>A (p.Asp1934Asn) c.6607G>A (p.Asp2203Asn) c.6709G>A (p.Asp2237Asn) c.6685G>A (p.Asp2229Asn) c.6652G>A (p.Asp2218Asn) c.6628G>A (p.Asp2210Asn) c.6583G>A (p.Asp2195Asn) | |
3 | g.53811377G>C | CA353259805 | CACNA1D | c.6517G>C (p.Asp2173His) n.1846G>C n.3456G>C n.1892G>C c.6457G>C (p.Asp2153His) c.6385G>C (p.Asp2129His) c.2578G>C c.6412G>C (p.Asp2138His) n.1884G>C c.6484G>C (p.Asp2162His) c.5536G>C (p.Asp1846His) c.6712G>C (p.Asp2238His) c.6601G>C (p.Asp2201His) c.6523G>C (p.Asp2175His) c.6175G>C (p.Asp2059His) c.5800G>C (p.Asp1934His) c.6607G>C (p.Asp2203His) c.6709G>C (p.Asp2237His) c.6685G>C (p.Asp2229His) c.6652G>C (p.Asp2218His) c.6628G>C (p.Asp2210His) c.6583G>C (p.Asp2195His) | gnomAD v4 |
3 | g.53811377G>T | CA353259808 | CACNA1D | c.6517G>T (p.Asp2173Tyr) n.1846G>T n.3456G>T n.1892G>T c.6457G>T (p.Asp2153Tyr) c.6385G>T (p.Asp2129Tyr) c.2578G>T c.6412G>T (p.Asp2138Tyr) n.1884G>T c.6484G>T (p.Asp2162Tyr) c.5536G>T (p.Asp1846Tyr) c.6712G>T (p.Asp2238Tyr) c.6601G>T (p.Asp2201Tyr) c.6523G>T (p.Asp2175Tyr) c.6175G>T (p.Asp2059Tyr) c.5800G>T (p.Asp1934Tyr) c.6607G>T (p.Asp2203Tyr) c.6709G>T (p.Asp2237Tyr) c.6685G>T (p.Asp2229Tyr) c.6652G>T (p.Asp2218Tyr) c.6628G>T (p.Asp2210Tyr) c.6583G>T (p.Asp2195Tyr) | |
3 | g.53811378A>C | CA353259813 | CACNA1D | c.6518A>C (p.Asp2173Ala) n.1847A>C n.3457A>C n.1893A>C c.6458A>C (p.Asp2153Ala) c.6386A>C (p.Asp2129Ala) c.2579A>C c.6413A>C (p.Asp2138Ala) n.1885A>C c.6485A>C (p.Asp2162Ala) c.5537A>C (p.Asp1846Ala) c.6713A>C (p.Asp2238Ala) c.6602A>C (p.Asp2201Ala) c.6524A>C (p.Asp2175Ala) c.6176A>C (p.Asp2059Ala) c.5801A>C (p.Asp1934Ala) c.6608A>C (p.Asp2203Ala) c.6710A>C (p.Asp2237Ala) c.6686A>C (p.Asp2229Ala) c.6653A>C (p.Asp2218Ala) c.6629A>C (p.Asp2210Ala) c.6584A>C (p.Asp2195Ala) | |
3 | g.53811378A>G | CA353259815 | CACNA1D | c.6518A>G (p.Asp2173Gly) n.1847A>G n.3457A>G n.1893A>G c.6458A>G (p.Asp2153Gly) c.6386A>G (p.Asp2129Gly) c.2579A>G c.6413A>G (p.Asp2138Gly) n.1885A>G c.6485A>G (p.Asp2162Gly) c.5537A>G (p.Asp1846Gly) c.6713A>G (p.Asp2238Gly) c.6602A>G (p.Asp2201Gly) c.6524A>G (p.Asp2175Gly) c.6176A>G (p.Asp2059Gly) c.5801A>G (p.Asp1934Gly) c.6608A>G (p.Asp2203Gly) c.6710A>G (p.Asp2237Gly) c.6686A>G (p.Asp2229Gly) c.6653A>G (p.Asp2218Gly) c.6629A>G (p.Asp2210Gly) c.6584A>G (p.Asp2195Gly) | |
3 | g.53811378A>T | CA353259817 | CACNA1D | c.6518A>T (p.Asp2173Val) n.1847A>T n.3457A>T n.1893A>T c.6458A>T (p.Asp2153Val) c.6386A>T (p.Asp2129Val) c.2579A>T c.6413A>T (p.Asp2138Val) n.1885A>T c.6485A>T (p.Asp2162Val) c.5537A>T (p.Asp1846Val) c.6713A>T (p.Asp2238Val) c.6602A>T (p.Asp2201Val) c.6524A>T (p.Asp2175Val) c.6176A>T (p.Asp2059Val) c.5801A>T (p.Asp1934Val) c.6608A>T (p.Asp2203Val) c.6710A>T (p.Asp2237Val) c.6686A>T (p.Asp2229Val) c.6653A>T (p.Asp2218Val) c.6629A>T (p.Asp2210Val) c.6584A>T (p.Asp2195Val) | |
3 | g.53811379T>A | CA353259819 | CACNA1D | c.6519T>A (p.Asp2173Glu) n.1848T>A n.3458T>A n.1894T>A c.6459T>A (p.Asp2153Glu) c.6387T>A (p.Asp2129Glu) c.2580T>A c.6414T>A (p.Asp2138Glu) n.1886T>A c.6486T>A (p.Asp2162Glu) c.5538T>A (p.Asp1846Glu) c.6714T>A (p.Asp2238Glu) c.6603T>A (p.Asp2201Glu) c.6525T>A (p.Asp2175Glu) c.6177T>A (p.Asp2059Glu) c.5802T>A (p.Asp1934Glu) c.6609T>A (p.Asp2203Glu) c.6711T>A (p.Asp2237Glu) c.6687T>A (p.Asp2229Glu) c.6654T>A (p.Asp2218Glu) c.6630T>A (p.Asp2210Glu) c.6585T>A (p.Asp2195Glu) | |
3 | g.53811379T>C | CA433895914 | CACNA1D | c.6519T>C (p.Asp2173=) n.1848T>C n.3458T>C n.1894T>C c.6459T>C (p.Asp2153=) c.6387T>C (p.Asp2129=) c.2580T>C c.6414T>C (p.Asp2138=) n.1886T>C c.6486T>C (p.Asp2162=) c.5538T>C (p.Asp1846=) c.6714T>C (p.Asp2238=) c.6603T>C (p.Asp2201=) c.6525T>C (p.Asp2175=) c.6177T>C (p.Asp2059=) c.5802T>C (p.Asp1934=) c.6609T>C (p.Asp2203=) c.6711T>C (p.Asp2237=) c.6687T>C (p.Asp2229=) c.6654T>C (p.Asp2218=) c.6630T>C (p.Asp2210=) c.6585T>C (p.Asp2195=) | gnomAD v4 |
3 | g.53811379T>G | CA353259822 | CACNA1D | c.6519T>G (p.Asp2173Glu) n.1848T>G n.3458T>G n.1894T>G c.6459T>G (p.Asp2153Glu) c.6387T>G (p.Asp2129Glu) c.2580T>G c.6414T>G (p.Asp2138Glu) n.1886T>G c.6486T>G (p.Asp2162Glu) c.5538T>G (p.Asp1846Glu) c.6714T>G (p.Asp2238Glu) c.6603T>G (p.Asp2201Glu) c.6525T>G (p.Asp2175Glu) c.6177T>G (p.Asp2059Glu) c.5802T>G (p.Asp1934Glu) c.6609T>G (p.Asp2203Glu) c.6711T>G (p.Asp2237Glu) c.6687T>G (p.Asp2229Glu) c.6654T>G (p.Asp2218Glu) c.6630T>G (p.Asp2210Glu) c.6585T>G (p.Asp2195Glu) | |
3 | g.53811380G>A | CA353259825 | CACNA1D | c.6520G>A (p.Glu2174Lys) n.1849G>A n.3459G>A n.1895G>A c.6460G>A (p.Glu2154Lys) c.6388G>A (p.Glu2130Lys) c.2581G>A c.6415G>A (p.Glu2139Lys) n.1887G>A c.6487G>A (p.Glu2163Lys) c.5539G>A (p.Glu1847Lys) c.6715G>A (p.Glu2239Lys) c.6604G>A (p.Glu2202Lys) c.6526G>A (p.Glu2176Lys) c.6178G>A (p.Glu2060Lys) c.5803G>A (p.Glu1935Lys) c.6610G>A (p.Glu2204Lys) c.6712G>A (p.Glu2238Lys) c.6688G>A (p.Glu2230Lys) c.6655G>A (p.Glu2219Lys) c.6631G>A (p.Glu2211Lys) c.6586G>A (p.Glu2196Lys) | gnomAD v4 |
3 | g.53811380G>C | CA353259827 | CACNA1D | c.6520G>C (p.Glu2174Gln) n.1849G>C n.3459G>C n.1895G>C c.6460G>C (p.Glu2154Gln) c.6388G>C (p.Glu2130Gln) c.2581G>C c.6415G>C (p.Glu2139Gln) n.1887G>C c.6487G>C (p.Glu2163Gln) c.5539G>C (p.Glu1847Gln) c.6715G>C (p.Glu2239Gln) c.6604G>C (p.Glu2202Gln) c.6526G>C (p.Glu2176Gln) c.6178G>C (p.Glu2060Gln) c.5803G>C (p.Glu1935Gln) c.6610G>C (p.Glu2204Gln) c.6712G>C (p.Glu2238Gln) c.6688G>C (p.Glu2230Gln) c.6655G>C (p.Glu2219Gln) c.6631G>C (p.Glu2211Gln) c.6586G>C (p.Glu2196Gln) | |
3 | g.53811380G>T | CA353259829 | CACNA1D | c.6520G>T (p.Glu2174Ter) n.1849G>T n.3459G>T n.1895G>T c.6460G>T (p.Glu2154Ter) c.6388G>T (p.Glu2130Ter) c.2581G>T c.6415G>T (p.Glu2139Ter) n.1887G>T c.6487G>T (p.Glu2163Ter) c.5539G>T (p.Glu1847Ter) c.6715G>T (p.Glu2239Ter) c.6604G>T (p.Glu2202Ter) c.6526G>T (p.Glu2176Ter) c.6178G>T (p.Glu2060Ter) c.5803G>T (p.Glu1935Ter) c.6610G>T (p.Glu2204Ter) c.6712G>T (p.Glu2238Ter) c.6688G>T (p.Glu2230Ter) c.6655G>T (p.Glu2219Ter) c.6631G>T (p.Glu2211Ter) c.6586G>T (p.Glu2196Ter) | |
3 | g.53811381A>C | CA353259833 | CACNA1D | c.6521A>C (p.Glu2174Ala) n.1850A>C n.3460A>C n.1896A>C c.6461A>C (p.Glu2154Ala) c.6389A>C (p.Glu2130Ala) c.2582A>C c.6416A>C (p.Glu2139Ala) n.1888A>C c.6488A>C (p.Glu2163Ala) c.5540A>C (p.Glu1847Ala) c.6716A>C (p.Glu2239Ala) c.6605A>C (p.Glu2202Ala) c.6527A>C (p.Glu2176Ala) c.6179A>C (p.Glu2060Ala) c.5804A>C (p.Glu1935Ala) c.6611A>C (p.Glu2204Ala) c.6713A>C (p.Glu2238Ala) c.6689A>C (p.Glu2230Ala) c.6656A>C (p.Glu2219Ala) c.6632A>C (p.Glu2211Ala) c.6587A>C (p.Glu2196Ala) | |
3 | g.53811381A>G | CA353259835 | CACNA1D | c.6521A>G (p.Glu2174Gly) n.1850A>G n.3460A>G n.1896A>G c.6461A>G (p.Glu2154Gly) c.6389A>G (p.Glu2130Gly) c.2582A>G c.6416A>G (p.Glu2139Gly) n.1888A>G c.6488A>G (p.Glu2163Gly) c.5540A>G (p.Glu1847Gly) c.6716A>G (p.Glu2239Gly) c.6605A>G (p.Glu2202Gly) c.6527A>G (p.Glu2176Gly) c.6179A>G (p.Glu2060Gly) c.5804A>G (p.Glu1935Gly) c.6611A>G (p.Glu2204Gly) c.6713A>G (p.Glu2238Gly) c.6689A>G (p.Glu2230Gly) c.6656A>G (p.Glu2219Gly) c.6632A>G (p.Glu2211Gly) c.6587A>G (p.Glu2196Gly) | |
3 | g.53811381A>T | CA353259837 | CACNA1D | c.6521A>T (p.Glu2174Val) n.1850A>T n.3460A>T n.1896A>T c.6461A>T (p.Glu2154Val) c.6389A>T (p.Glu2130Val) c.2582A>T c.6416A>T (p.Glu2139Val) n.1888A>T c.6488A>T (p.Glu2163Val) c.5540A>T (p.Glu1847Val) c.6716A>T (p.Glu2239Val) c.6605A>T (p.Glu2202Val) c.6527A>T (p.Glu2176Val) c.6179A>T (p.Glu2060Val) c.5804A>T (p.Glu1935Val) c.6611A>T (p.Glu2204Val) c.6713A>T (p.Glu2238Val) c.6689A>T (p.Glu2230Val) c.6656A>T (p.Glu2219Val) c.6632A>T (p.Glu2211Val) c.6587A>T (p.Glu2196Val) | gnomAD v4 |
3 | g.53811382A>C | CA353259840 | CACNA1D | c.6522A>C (p.Glu2174Asp) n.1851A>C n.3461A>C n.1897A>C c.6462A>C (p.Glu2154Asp) c.6390A>C (p.Glu2130Asp) c.2583A>C c.6417A>C (p.Glu2139Asp) n.1889A>C c.6489A>C (p.Glu2163Asp) c.5541A>C (p.Glu1847Asp) c.6717A>C (p.Glu2239Asp) c.6606A>C (p.Glu2202Asp) c.6528A>C (p.Glu2176Asp) c.6180A>C (p.Glu2060Asp) c.5805A>C (p.Glu1935Asp) c.6612A>C (p.Glu2204Asp) c.6714A>C (p.Glu2238Asp) c.6690A>C (p.Glu2230Asp) c.6657A>C (p.Glu2219Asp) c.6633A>C (p.Glu2211Asp) c.6588A>C (p.Glu2196Asp) | |
3 | g.53811382A>G | CA433895920 | CACNA1D | c.6522A>G (p.Glu2174=) n.1851A>G n.3461A>G n.1897A>G c.6462A>G (p.Glu2154=) c.6390A>G (p.Glu2130=) c.2583A>G c.6417A>G (p.Glu2139=) n.1889A>G c.6489A>G (p.Glu2163=) c.5541A>G (p.Glu1847=) c.6717A>G (p.Glu2239=) c.6606A>G (p.Glu2202=) c.6528A>G (p.Glu2176=) c.6180A>G (p.Glu2060=) c.5805A>G (p.Glu1935=) c.6612A>G (p.Glu2204=) c.6714A>G (p.Glu2238=) c.6690A>G (p.Glu2230=) c.6657A>G (p.Glu2219=) c.6633A>G (p.Glu2211=) c.6588A>G (p.Glu2196=) | gnomAD v4 |
3 | g.53811382A>T | CA353259842 | CACNA1D | c.6522A>T (p.Glu2174Asp) n.1851A>T n.3461A>T n.1897A>T c.6462A>T (p.Glu2154Asp) c.6390A>T (p.Glu2130Asp) c.2583A>T c.6417A>T (p.Glu2139Asp) n.1889A>T c.6489A>T (p.Glu2163Asp) c.5541A>T (p.Glu1847Asp) c.6717A>T (p.Glu2239Asp) c.6606A>T (p.Glu2202Asp) c.6528A>T (p.Glu2176Asp) c.6180A>T (p.Glu2060Asp) c.5805A>T (p.Glu1935Asp) c.6612A>T (p.Glu2204Asp) c.6714A>T (p.Glu2238Asp) c.6690A>T (p.Glu2230Asp) c.6657A>T (p.Glu2219Asp) c.6633A>T (p.Glu2211Asp) c.6588A>T (p.Glu2196Asp) | |
3 | g.53811383A>C | CA353259846 | CACNA1D | c.6523A>C (p.Met2175Leu) n.1852A>C n.3462A>C n.1898A>C c.6463A>C (p.Met2155Leu) c.6391A>C (p.Met2131Leu) c.2584A>C c.6418A>C (p.Met2140Leu) n.1890A>C c.6490A>C (p.Met2164Leu) c.5542A>C (p.Met1848Leu) c.6718A>C (p.Met2240Leu) c.6607A>C (p.Met2203Leu) c.6529A>C (p.Met2177Leu) c.6181A>C (p.Met2061Leu) c.5806A>C (p.Met1936Leu) c.6613A>C (p.Met2205Leu) c.6715A>C (p.Met2239Leu) c.6691A>C (p.Met2231Leu) c.6658A>C (p.Met2220Leu) c.6634A>C (p.Met2212Leu) c.6589A>C (p.Met2197Leu) | |
3 | g.53811383A>G | CA353259851 | CACNA1D | c.6523A>G (p.Met2175Val) n.1852A>G n.3462A>G n.1898A>G c.6463A>G (p.Met2155Val) c.6391A>G (p.Met2131Val) c.2584A>G c.6418A>G (p.Met2140Val) n.1890A>G c.6490A>G (p.Met2164Val) c.5542A>G (p.Met1848Val) c.6718A>G (p.Met2240Val) c.6607A>G (p.Met2203Val) c.6529A>G (p.Met2177Val) c.6181A>G (p.Met2061Val) c.5806A>G (p.Met1936Val) c.6613A>G (p.Met2205Val) c.6715A>G (p.Met2239Val) c.6691A>G (p.Met2231Val) c.6658A>G (p.Met2220Val) c.6634A>G (p.Met2212Val) c.6589A>G (p.Met2197Val) | |
3 | g.53811383A>T | CA353259848 | CACNA1D | c.6523A>T (p.Met2175Leu) n.1852A>T n.3462A>T n.1898A>T c.6463A>T (p.Met2155Leu) c.6391A>T (p.Met2131Leu) c.2584A>T c.6418A>T (p.Met2140Leu) n.1890A>T c.6490A>T (p.Met2164Leu) c.5542A>T (p.Met1848Leu) c.6718A>T (p.Met2240Leu) c.6607A>T (p.Met2203Leu) c.6529A>T (p.Met2177Leu) c.6181A>T (p.Met2061Leu) c.5806A>T (p.Met1936Leu) c.6613A>T (p.Met2205Leu) c.6715A>T (p.Met2239Leu) c.6691A>T (p.Met2231Leu) c.6658A>T (p.Met2220Leu) c.6634A>T (p.Met2212Leu) c.6589A>T (p.Met2197Leu) | |
3 | g.53811384T>A | CA353259854 | CACNA1D | c.6524T>A (p.Met2175Lys) n.1853T>A n.3463T>A n.1899T>A c.6464T>A (p.Met2155Lys) c.6392T>A (p.Met2131Lys) c.2585T>A c.6419T>A (p.Met2140Lys) n.1891T>A c.6491T>A (p.Met2164Lys) c.5543T>A (p.Met1848Lys) c.6719T>A (p.Met2240Lys) c.6608T>A (p.Met2203Lys) c.6530T>A (p.Met2177Lys) c.6182T>A (p.Met2061Lys) c.5807T>A (p.Met1936Lys) c.6614T>A (p.Met2205Lys) c.6716T>A (p.Met2239Lys) c.6692T>A (p.Met2231Lys) c.6659T>A (p.Met2220Lys) c.6635T>A (p.Met2212Lys) c.6590T>A (p.Met2197Lys) | dbSNP gnomAD v4 |
3 | g.53811384T>C | CA353259856 | CACNA1D | c.6524T>C (p.Met2175Thr) n.1853T>C n.3463T>C n.1899T>C c.6464T>C (p.Met2155Thr) c.6392T>C (p.Met2131Thr) c.2585T>C c.6419T>C (p.Met2140Thr) n.1891T>C c.6491T>C (p.Met2164Thr) c.5543T>C (p.Met1848Thr) c.6719T>C (p.Met2240Thr) c.6608T>C (p.Met2203Thr) c.6530T>C (p.Met2177Thr) c.6182T>C (p.Met2061Thr) c.5807T>C (p.Met1936Thr) c.6614T>C (p.Met2205Thr) c.6716T>C (p.Met2239Thr) c.6692T>C (p.Met2231Thr) c.6659T>C (p.Met2220Thr) c.6635T>C (p.Met2212Thr) c.6590T>C (p.Met2197Thr) | |
3 | g.53811384T>G | CA353259858 | CACNA1D | c.6524T>G (p.Met2175Arg) n.1853T>G n.3463T>G n.1899T>G c.6464T>G (p.Met2155Arg) c.6392T>G (p.Met2131Arg) c.2585T>G c.6419T>G (p.Met2140Arg) n.1891T>G c.6491T>G (p.Met2164Arg) c.5543T>G (p.Met1848Arg) c.6719T>G (p.Met2240Arg) c.6608T>G (p.Met2203Arg) c.6530T>G (p.Met2177Arg) c.6182T>G (p.Met2061Arg) c.5807T>G (p.Met1936Arg) c.6614T>G (p.Met2205Arg) c.6716T>G (p.Met2239Arg) c.6692T>G (p.Met2231Arg) c.6659T>G (p.Met2220Arg) c.6635T>G (p.Met2212Arg) c.6590T>G (p.Met2197Arg) | |
3 | g.53811384T= | CA1365489060 | CACNA1D | c.6524T= (p.Met2175=) n.1853T= n.3463T= n.1899T= c.6464T= (p.Met2155=) c.6392T= (p.Met2131=) c.2585T= c.6419T= (p.Met2140=) n.1891T= c.6491T= (p.Met2164=) c.5543T= (p.Met1848=) c.6719T= (p.Met2240=) c.6608T= (p.Met2203=) c.6530T= (p.Met2177=) c.6182T= (p.Met2061=) c.5807T= (p.Met1936=) c.6614T= (p.Met2205=) c.6716T= (p.Met2239=) c.6692T= (p.Met2231=) c.6659T= (p.Met2220=) c.6635T= (p.Met2212=) c.6590T= (p.Met2197=) | |
3 | g.53811385G>A | CA353259862 | CACNA1D | c.6525G>A (p.Met2175Ile) n.1854G>A n.3464G>A n.1900G>A c.6465G>A (p.Met2155Ile) c.6393G>A (p.Met2131Ile) c.2586G>A c.6420G>A (p.Met2140Ile) n.1892G>A c.6492G>A (p.Met2164Ile) c.5544G>A (p.Met1848Ile) c.6720G>A (p.Met2240Ile) c.6609G>A (p.Met2203Ile) c.6531G>A (p.Met2177Ile) c.6183G>A (p.Met2061Ile) c.5808G>A (p.Met1936Ile) c.6615G>A (p.Met2205Ile) c.6717G>A (p.Met2239Ile) c.6693G>A (p.Met2231Ile) c.6660G>A (p.Met2220Ile) c.6636G>A (p.Met2212Ile) c.6591G>A (p.Met2197Ile) | dbSNP |
3 | g.53811385G>C | CA353259864 | CACNA1D | c.6525G>C (p.Met2175Ile) n.1854G>C n.3464G>C n.1900G>C c.6465G>C (p.Met2155Ile) c.6393G>C (p.Met2131Ile) c.2586G>C c.6420G>C (p.Met2140Ile) n.1892G>C c.6492G>C (p.Met2164Ile) c.5544G>C (p.Met1848Ile) c.6720G>C (p.Met2240Ile) c.6609G>C (p.Met2203Ile) c.6531G>C (p.Met2177Ile) c.6183G>C (p.Met2061Ile) c.5808G>C (p.Met1936Ile) c.6615G>C (p.Met2205Ile) c.6717G>C (p.Met2239Ile) c.6693G>C (p.Met2231Ile) c.6660G>C (p.Met2220Ile) c.6636G>C (p.Met2212Ile) c.6591G>C (p.Met2197Ile) | |
3 | g.53811385G= | CA1365489062 | CACNA1D | c.6525G= (p.Met2175=) n.1854G= n.3464G= n.1900G= c.6465G= (p.Met2155=) c.6393G= (p.Met2131=) c.2586G= c.6420G= (p.Met2140=) n.1892G= c.6492G= (p.Met2164=) c.5544G= (p.Met1848=) c.6720G= (p.Met2240=) c.6609G= (p.Met2203=) c.6531G= (p.Met2177=) c.6183G= (p.Met2061=) c.5808G= (p.Met1936=) c.6615G= (p.Met2205=) c.6717G= (p.Met2239=) c.6693G= (p.Met2231=) c.6660G= (p.Met2220=) c.6636G= (p.Met2212=) c.6591G= (p.Met2197=) | |
3 | g.53811385G>T | CA353259867 | CACNA1D | c.6525G>T (p.Met2175Ile) n.1854G>T n.3464G>T n.1900G>T c.6465G>T (p.Met2155Ile) c.6393G>T (p.Met2131Ile) c.2586G>T c.6420G>T (p.Met2140Ile) n.1892G>T c.6492G>T (p.Met2164Ile) c.5544G>T (p.Met1848Ile) c.6720G>T (p.Met2240Ile) c.6609G>T (p.Met2203Ile) c.6531G>T (p.Met2177Ile) c.6183G>T (p.Met2061Ile) c.5808G>T (p.Met1936Ile) c.6615G>T (p.Met2205Ile) c.6717G>T (p.Met2239Ile) c.6693G>T (p.Met2231Ile) c.6660G>T (p.Met2220Ile) c.6636G>T (p.Met2212Ile) c.6591G>T (p.Met2197Ile) | |
3 | g.53811385_53811386delinsGA | CA1365489061 | CACNA1D | c.6525_6526delinsGA (p.Met2175=) n.1854_1855delinsGA n.3464_3465delinsGA n.1900_1901delinsGA c.6465_6466delinsGA (p.Met2155=) c.6393_6394delinsGA (p.Met2131=) c.2586_2587delinsGA c.6420_6421delinsGA (p.Met2140=) n.1892_1893delinsGA c.6492_6493delinsGA (p.Met2164=) c.5544_5545delinsGA (p.Met1848=) c.6720_6721delinsGA (p.Met2240=) c.6609_6610delinsGA (p.Met2203=) c.6531_6532delinsGA (p.Met2177=) c.6183_6184delinsGA (p.Met2061=) c.5808_5809delinsGA (p.Met1936=) c.6615_6616delinsGA (p.Met2205=) c.6717_6718delinsGA (p.Met2239=) c.6693_6694delinsGA (p.Met2231=) c.6660_6661delinsGA (p.Met2220=) c.6636_6637delinsGA (p.Met2212=) c.6591_6592delinsGA (p.Met2197=) | |
3 | g.53811386del | CA543530602 | CACNA1D | c.6526del (p.Ile2176TyrfsTer?) n.1855del n.3465del n.1901del c.6466del (p.Ile2156TyrfsTer?) c.6394del (p.Ile2132TyrfsTer?) c.2587del c.6421del (p.Ile2141TyrfsTer?) n.1893del c.6493del (p.Ile2165TyrfsTer?) c.5545del (p.Ile1849TyrfsTer?) c.6721del (p.Ile2241TyrfsTer?) c.6610del (p.Ile2204TyrfsTer?) c.6532del (p.Ile2178TyrfsTer?) c.6184del (p.Ile2062TyrfsTer?) c.5809del (p.Ile1937TyrfsTer?) c.6616del (p.Ile2206TyrfsTer?) c.6718del (p.Ile2240TyrfsTer?) c.6694del (p.Ile2232TyrfsTer?) c.6661del (p.Ile2221TyrfsTer?) c.6637del (p.Ile2213TyrfsTer?) c.6592del (p.Ile2198TyrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53811386A>C | CA353259868 | CACNA1D | c.6526A>C (p.Ile2176Leu) n.1855A>C n.3465A>C n.1901A>C c.6466A>C (p.Ile2156Leu) c.6394A>C (p.Ile2132Leu) c.2587A>C c.6421A>C (p.Ile2141Leu) n.1893A>C c.6493A>C (p.Ile2165Leu) c.5545A>C (p.Ile1849Leu) c.6721A>C (p.Ile2241Leu) c.6610A>C (p.Ile2204Leu) c.6532A>C (p.Ile2178Leu) c.6184A>C (p.Ile2062Leu) c.5809A>C (p.Ile1937Leu) c.6616A>C (p.Ile2206Leu) c.6718A>C (p.Ile2240Leu) c.6694A>C (p.Ile2232Leu) c.6661A>C (p.Ile2221Leu) c.6637A>C (p.Ile2213Leu) c.6592A>C (p.Ile2198Leu) | |
3 | g.53811386A>G | CA353259869 | CACNA1D | c.6526A>G (p.Ile2176Val) n.1855A>G n.3465A>G n.1901A>G c.6466A>G (p.Ile2156Val) c.6394A>G (p.Ile2132Val) c.2587A>G c.6421A>G (p.Ile2141Val) n.1893A>G c.6493A>G (p.Ile2165Val) c.5545A>G (p.Ile1849Val) c.6721A>G (p.Ile2241Val) c.6610A>G (p.Ile2204Val) c.6532A>G (p.Ile2178Val) c.6184A>G (p.Ile2062Val) c.5809A>G (p.Ile1937Val) c.6616A>G (p.Ile2206Val) c.6718A>G (p.Ile2240Val) c.6694A>G (p.Ile2232Val) c.6661A>G (p.Ile2221Val) c.6637A>G (p.Ile2213Val) c.6592A>G (p.Ile2198Val) | |
3 | g.53811386A>T | CA353259870 | CACNA1D | c.6526A>T (p.Ile2176Leu) n.1855A>T n.3465A>T n.1901A>T c.6466A>T (p.Ile2156Leu) c.6394A>T (p.Ile2132Leu) c.2587A>T c.6421A>T (p.Ile2141Leu) n.1893A>T c.6493A>T (p.Ile2165Leu) c.5545A>T (p.Ile1849Leu) c.6721A>T (p.Ile2241Leu) c.6610A>T (p.Ile2204Leu) c.6532A>T (p.Ile2178Leu) c.6184A>T (p.Ile2062Leu) c.5809A>T (p.Ile1937Leu) c.6616A>T (p.Ile2206Leu) c.6718A>T (p.Ile2240Leu) c.6694A>T (p.Ile2232Leu) c.6661A>T (p.Ile2221Leu) c.6637A>T (p.Ile2213Leu) c.6592A>T (p.Ile2198Leu) | |
3 | g.53811387T>A | CA353259873 | CACNA1D | c.6527T>A (p.Ile2176Lys) n.1856T>A n.3466T>A n.1902T>A c.6467T>A (p.Ile2156Lys) c.6395T>A (p.Ile2132Lys) c.2588T>A c.6422T>A (p.Ile2141Lys) n.1894T>A c.6494T>A (p.Ile2165Lys) c.5546T>A (p.Ile1849Lys) c.6722T>A (p.Ile2241Lys) c.6611T>A (p.Ile2204Lys) c.6533T>A (p.Ile2178Lys) c.6185T>A (p.Ile2062Lys) c.5810T>A (p.Ile1937Lys) c.6617T>A (p.Ile2206Lys) c.6719T>A (p.Ile2240Lys) c.6695T>A (p.Ile2232Lys) c.6662T>A (p.Ile2221Lys) c.6638T>A (p.Ile2213Lys) c.6593T>A (p.Ile2198Lys) | gnomAD v4 |
3 | g.53811387T>C | CA353259875 | CACNA1D | c.6527T>C (p.Ile2176Thr) n.1856T>C n.3466T>C n.1902T>C c.6467T>C (p.Ile2156Thr) c.6395T>C (p.Ile2132Thr) c.2588T>C c.6422T>C (p.Ile2141Thr) n.1894T>C c.6494T>C (p.Ile2165Thr) c.5546T>C (p.Ile1849Thr) c.6722T>C (p.Ile2241Thr) c.6611T>C (p.Ile2204Thr) c.6533T>C (p.Ile2178Thr) c.6185T>C (p.Ile2062Thr) c.5810T>C (p.Ile1937Thr) c.6617T>C (p.Ile2206Thr) c.6719T>C (p.Ile2240Thr) c.6695T>C (p.Ile2232Thr) c.6662T>C (p.Ile2221Thr) c.6638T>C (p.Ile2213Thr) c.6593T>C (p.Ile2198Thr) | |
3 | g.53811387T>G | CA353259877 | CACNA1D | c.6527T>G (p.Ile2176Arg) n.1856T>G n.3466T>G n.1902T>G c.6467T>G (p.Ile2156Arg) c.6395T>G (p.Ile2132Arg) c.2588T>G c.6422T>G (p.Ile2141Arg) n.1894T>G c.6494T>G (p.Ile2165Arg) c.5546T>G (p.Ile1849Arg) c.6722T>G (p.Ile2241Arg) c.6611T>G (p.Ile2204Arg) c.6533T>G (p.Ile2178Arg) c.6185T>G (p.Ile2062Arg) c.5810T>G (p.Ile1937Arg) c.6617T>G (p.Ile2206Arg) c.6719T>G (p.Ile2240Arg) c.6695T>G (p.Ile2232Arg) c.6662T>G (p.Ile2221Arg) c.6638T>G (p.Ile2213Arg) c.6593T>G (p.Ile2198Arg) | |
3 | g.53811388A= | CA1365489063 | CACNA1D | c.6528A= (p.Ile2176=) n.1857A= n.3467A= n.1903A= c.6468A= (p.Ile2156=) c.6396A= (p.Ile2132=) c.2589A= c.6423A= (p.Ile2141=) n.1895A= c.6495A= (p.Ile2165=) c.5547A= (p.Ile1849=) c.6723A= (p.Ile2241=) c.6612A= (p.Ile2204=) c.6534A= (p.Ile2178=) c.6186A= (p.Ile2062=) c.5811A= (p.Ile1937=) c.6618A= (p.Ile2206=) c.6720A= (p.Ile2240=) c.6696A= (p.Ile2232=) c.6663A= (p.Ile2221=) c.6639A= (p.Ile2213=) c.6594A= (p.Ile2198=) | |
3 | g.53811388A>C | CA433895934 | CACNA1D | c.6528A>C (p.Ile2176=) n.1857A>C n.3467A>C n.1903A>C c.6468A>C (p.Ile2156=) c.6396A>C (p.Ile2132=) c.2589A>C c.6423A>C (p.Ile2141=) n.1895A>C c.6495A>C (p.Ile2165=) c.5547A>C (p.Ile1849=) c.6723A>C (p.Ile2241=) c.6612A>C (p.Ile2204=) c.6534A>C (p.Ile2178=) c.6186A>C (p.Ile2062=) c.5811A>C (p.Ile1937=) c.6618A>C (p.Ile2206=) c.6720A>C (p.Ile2240=) c.6696A>C (p.Ile2232=) c.6663A>C (p.Ile2221=) c.6639A>C (p.Ile2213=) c.6594A>C (p.Ile2198=) | |
3 | g.53811388A>G | CA74870281 | CACNA1D | c.6528A>G (p.Ile2176Met) n.1857A>G n.3467A>G n.1903A>G c.6468A>G (p.Ile2156Met) c.6396A>G (p.Ile2132Met) c.2589A>G c.6423A>G (p.Ile2141Met) n.1895A>G c.6495A>G (p.Ile2165Met) c.5547A>G (p.Ile1849Met) c.6723A>G (p.Ile2241Met) c.6612A>G (p.Ile2204Met) c.6534A>G (p.Ile2178Met) c.6186A>G (p.Ile2062Met) c.5811A>G (p.Ile1937Met) c.6618A>G (p.Ile2206Met) c.6720A>G (p.Ile2240Met) c.6696A>G (p.Ile2232Met) c.6663A>G (p.Ile2221Met) c.6639A>G (p.Ile2213Met) c.6594A>G (p.Ile2198Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811388A>T | CA433895935 | CACNA1D | c.6528A>T (p.Ile2176=) n.1857A>T n.3467A>T n.1903A>T c.6468A>T (p.Ile2156=) c.6396A>T (p.Ile2132=) c.2589A>T c.6423A>T (p.Ile2141=) n.1895A>T c.6495A>T (p.Ile2165=) c.5547A>T (p.Ile1849=) c.6723A>T (p.Ile2241=) c.6612A>T (p.Ile2204=) c.6534A>T (p.Ile2178=) c.6186A>T (p.Ile2062=) c.5811A>T (p.Ile1937=) c.6618A>T (p.Ile2206=) c.6720A>T (p.Ile2240=) c.6696A>T (p.Ile2232=) c.6663A>T (p.Ile2221=) c.6639A>T (p.Ile2213=) c.6594A>T (p.Ile2198=) | |
3 | g.53811389T>A | CA353259883 | CACNA1D | c.6529T>A (p.Cys2177Ser) n.1858T>A n.3468T>A n.1904T>A c.6469T>A (p.Cys2157Ser) c.6397T>A (p.Cys2133Ser) c.2590T>A c.6424T>A (p.Cys2142Ser) n.1896T>A c.6496T>A (p.Cys2166Ser) c.5548T>A (p.Cys1850Ser) c.6724T>A (p.Cys2242Ser) c.6613T>A (p.Cys2205Ser) c.6535T>A (p.Cys2179Ser) c.6187T>A (p.Cys2063Ser) c.5812T>A (p.Cys1938Ser) c.6619T>A (p.Cys2207Ser) c.6721T>A (p.Cys2241Ser) c.6697T>A (p.Cys2233Ser) c.6664T>A (p.Cys2222Ser) c.6640T>A (p.Cys2214Ser) c.6595T>A (p.Cys2199Ser) | |
3 | g.53811389T>C | CA353259887 | CACNA1D | c.6529T>C (p.Cys2177Arg) n.1858T>C n.3468T>C n.1904T>C c.6469T>C (p.Cys2157Arg) c.6397T>C (p.Cys2133Arg) c.2590T>C c.6424T>C (p.Cys2142Arg) n.1896T>C c.6496T>C (p.Cys2166Arg) c.5548T>C (p.Cys1850Arg) c.6724T>C (p.Cys2242Arg) c.6613T>C (p.Cys2205Arg) c.6535T>C (p.Cys2179Arg) c.6187T>C (p.Cys2063Arg) c.5812T>C (p.Cys1938Arg) c.6619T>C (p.Cys2207Arg) c.6721T>C (p.Cys2241Arg) c.6697T>C (p.Cys2233Arg) c.6664T>C (p.Cys2222Arg) c.6640T>C (p.Cys2214Arg) c.6595T>C (p.Cys2199Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.53811389T>G | CA353259885 | CACNA1D | c.6529T>G (p.Cys2177Gly) n.1858T>G n.3468T>G n.1904T>G c.6469T>G (p.Cys2157Gly) c.6397T>G (p.Cys2133Gly) c.2590T>G c.6424T>G (p.Cys2142Gly) n.1896T>G c.6496T>G (p.Cys2166Gly) c.5548T>G (p.Cys1850Gly) c.6724T>G (p.Cys2242Gly) c.6613T>G (p.Cys2205Gly) c.6535T>G (p.Cys2179Gly) c.6187T>G (p.Cys2063Gly) c.5812T>G (p.Cys1938Gly) c.6619T>G (p.Cys2207Gly) c.6721T>G (p.Cys2241Gly) c.6697T>G (p.Cys2233Gly) c.6664T>G (p.Cys2222Gly) c.6640T>G (p.Cys2214Gly) c.6595T>G (p.Cys2199Gly) | |
3 | g.53811389T= | CA1365489064 | CACNA1D | c.6529T= (p.Cys2177=) n.1858T= n.3468T= n.1904T= c.6469T= (p.Cys2157=) c.6397T= (p.Cys2133=) c.2590T= c.6424T= (p.Cys2142=) n.1896T= c.6496T= (p.Cys2166=) c.5548T= (p.Cys1850=) c.6724T= (p.Cys2242=) c.6613T= (p.Cys2205=) c.6535T= (p.Cys2179=) c.6187T= (p.Cys2063=) c.5812T= (p.Cys1938=) c.6619T= (p.Cys2207=) c.6721T= (p.Cys2241=) c.6697T= (p.Cys2233=) c.6664T= (p.Cys2222=) c.6640T= (p.Cys2214=) c.6595T= (p.Cys2199=) | |
3 | g.53811390G>A | CA353259891 | CACNA1D | c.6530G>A (p.Cys2177Tyr) n.1859G>A n.3469G>A n.1905G>A c.6470G>A (p.Cys2157Tyr) c.6398G>A (p.Cys2133Tyr) c.2591G>A c.6425G>A (p.Cys2142Tyr) n.1897G>A c.6497G>A (p.Cys2166Tyr) c.5549G>A (p.Cys1850Tyr) c.6725G>A (p.Cys2242Tyr) c.6614G>A (p.Cys2205Tyr) c.6536G>A (p.Cys2179Tyr) c.6188G>A (p.Cys2063Tyr) c.5813G>A (p.Cys1938Tyr) c.6620G>A (p.Cys2207Tyr) c.6722G>A (p.Cys2241Tyr) c.6698G>A (p.Cys2233Tyr) c.6665G>A (p.Cys2222Tyr) c.6641G>A (p.Cys2214Tyr) c.6596G>A (p.Cys2199Tyr) | gnomAD v4 |
3 | g.53811390G>C | CA353259893 | CACNA1D | c.6530G>C (p.Cys2177Ser) n.1859G>C n.3469G>C n.1905G>C c.6470G>C (p.Cys2157Ser) c.6398G>C (p.Cys2133Ser) c.2591G>C c.6425G>C (p.Cys2142Ser) n.1897G>C c.6497G>C (p.Cys2166Ser) c.5549G>C (p.Cys1850Ser) c.6725G>C (p.Cys2242Ser) c.6614G>C (p.Cys2205Ser) c.6536G>C (p.Cys2179Ser) c.6188G>C (p.Cys2063Ser) c.5813G>C (p.Cys1938Ser) c.6620G>C (p.Cys2207Ser) c.6722G>C (p.Cys2241Ser) c.6698G>C (p.Cys2233Ser) c.6665G>C (p.Cys2222Ser) c.6641G>C (p.Cys2214Ser) c.6596G>C (p.Cys2199Ser) | |
3 | g.53811390G>T | CA353259895 | CACNA1D | c.6530G>T (p.Cys2177Phe) n.1859G>T n.3469G>T n.1905G>T c.6470G>T (p.Cys2157Phe) c.6398G>T (p.Cys2133Phe) c.2591G>T c.6425G>T (p.Cys2142Phe) n.1897G>T c.6497G>T (p.Cys2166Phe) c.5549G>T (p.Cys1850Phe) c.6725G>T (p.Cys2242Phe) c.6614G>T (p.Cys2205Phe) c.6536G>T (p.Cys2179Phe) c.6188G>T (p.Cys2063Phe) c.5813G>T (p.Cys1938Phe) c.6620G>T (p.Cys2207Phe) c.6722G>T (p.Cys2241Phe) c.6698G>T (p.Cys2233Phe) c.6665G>T (p.Cys2222Phe) c.6641G>T (p.Cys2214Phe) c.6596G>T (p.Cys2199Phe) | |
3 | g.53811391C>A | CA353259899 | CACNA1D | c.6531C>A (p.Cys2177Ter) n.1860C>A n.3470C>A n.1906C>A c.6471C>A (p.Cys2157Ter) c.6399C>A (p.Cys2133Ter) c.2592C>A c.6426C>A (p.Cys2142Ter) n.1898C>A c.6498C>A (p.Cys2166Ter) c.5550C>A (p.Cys1850Ter) c.6726C>A (p.Cys2242Ter) c.6615C>A (p.Cys2205Ter) c.6537C>A (p.Cys2179Ter) c.6189C>A (p.Cys2063Ter) c.5814C>A (p.Cys1938Ter) c.6621C>A (p.Cys2207Ter) c.6723C>A (p.Cys2241Ter) c.6699C>A (p.Cys2233Ter) c.6666C>A (p.Cys2222Ter) c.6642C>A (p.Cys2214Ter) c.6597C>A (p.Cys2199Ter) | gnomAD v4 |
3 | g.53811391C>G | CA353259901 | CACNA1D | c.6531C>G (p.Cys2177Trp) n.1860C>G n.3470C>G n.1906C>G c.6471C>G (p.Cys2157Trp) c.6399C>G (p.Cys2133Trp) c.2592C>G c.6426C>G (p.Cys2142Trp) n.1898C>G c.6498C>G (p.Cys2166Trp) c.5550C>G (p.Cys1850Trp) c.6726C>G (p.Cys2242Trp) c.6615C>G (p.Cys2205Trp) c.6537C>G (p.Cys2179Trp) c.6189C>G (p.Cys2063Trp) c.5814C>G (p.Cys1938Trp) c.6621C>G (p.Cys2207Trp) c.6723C>G (p.Cys2241Trp) c.6699C>G (p.Cys2233Trp) c.6666C>G (p.Cys2222Trp) c.6642C>G (p.Cys2214Trp) c.6597C>G (p.Cys2199Trp) | |
3 | g.53811391C>T | CA433895942 | CACNA1D | c.6531C>T (p.Cys2177=) n.1860C>T n.3470C>T n.1906C>T c.6471C>T (p.Cys2157=) c.6399C>T (p.Cys2133=) c.2592C>T c.6426C>T (p.Cys2142=) n.1898C>T c.6498C>T (p.Cys2166=) c.5550C>T (p.Cys1850=) c.6726C>T (p.Cys2242=) c.6615C>T (p.Cys2205=) c.6537C>T (p.Cys2179=) c.6189C>T (p.Cys2063=) c.5814C>T (p.Cys1938=) c.6621C>T (p.Cys2207=) c.6723C>T (p.Cys2241=) c.6699C>T (p.Cys2233=) c.6666C>T (p.Cys2222=) c.6642C>T (p.Cys2214=) c.6597C>T (p.Cys2199=) | gnomAD v4 |
3 | g.53811393_53811395dup | CA2702651476 | CACNA1D | c.6533_6535dup (p.Ile2178_Thr2179insIle) n.1862_1864dup n.3472_3474dup n.1908_1910dup c.6473_6475dup (p.Ile2158_Thr2159insIle) c.6401_6403dup (p.Ile2134_Thr2135insIle) c.2594_2596dup c.6428_6430dup (p.Ile2143_Thr2144insIle) n.1900_1902dup c.6500_6502dup (p.Ile2167_Thr2168insIle) c.5552_5554dup (p.Ile1851_Thr1852insIle) c.6728_6730dup (p.Ile2243_Thr2244insIle) c.6617_6619dup (p.Ile2206_Thr2207insIle) c.6539_6541dup (p.Ile2180_Thr2181insIle) c.6191_6193dup (p.Ile2064_Thr2065insIle) c.5816_5818dup (p.Ile1939_Thr1940insIle) c.6623_6625dup (p.Ile2208_Thr2209insIle) c.6725_6727dup (p.Ile2242_Thr2243insIle) c.6701_6703dup (p.Ile2234_Thr2235insIle) c.6668_6670dup (p.Ile2223_Thr2224insIle) c.6644_6646dup (p.Ile2215_Thr2216insIle) c.6599_6601dup (p.Ile2200_Thr2201insIle) | dbSNP |
3 | g.53811392A= | CA1365489065 | CACNA1D | c.6532A= (p.Ile2178=) n.1861A= n.3471A= n.1907A= c.6472A= (p.Ile2158=) c.6400A= (p.Ile2134=) c.2593A= c.6427A= (p.Ile2143=) n.1899A= c.6499A= (p.Ile2167=) c.5551A= (p.Ile1851=) c.6727A= (p.Ile2243=) c.6616A= (p.Ile2206=) c.6538A= (p.Ile2180=) c.6190A= (p.Ile2064=) c.5815A= (p.Ile1939=) c.6622A= (p.Ile2208=) c.6724A= (p.Ile2242=) c.6700A= (p.Ile2234=) c.6667A= (p.Ile2223=) c.6643A= (p.Ile2215=) c.6598A= (p.Ile2200=) | |
3 | g.53811392A>C | CA353259904 | CACNA1D | c.6532A>C (p.Ile2178Leu) n.1861A>C n.3471A>C n.1907A>C c.6472A>C (p.Ile2158Leu) c.6400A>C (p.Ile2134Leu) c.2593A>C c.6427A>C (p.Ile2143Leu) n.1899A>C c.6499A>C (p.Ile2167Leu) c.5551A>C (p.Ile1851Leu) c.6727A>C (p.Ile2243Leu) c.6616A>C (p.Ile2206Leu) c.6538A>C (p.Ile2180Leu) c.6190A>C (p.Ile2064Leu) c.5815A>C (p.Ile1939Leu) c.6622A>C (p.Ile2208Leu) c.6724A>C (p.Ile2242Leu) c.6700A>C (p.Ile2234Leu) c.6667A>C (p.Ile2223Leu) c.6643A>C (p.Ile2215Leu) c.6598A>C (p.Ile2200Leu) | |
3 | g.53811392A>G | CA2455453 | CACNA1D | c.6532A>G (p.Ile2178Val) n.1861A>G n.3471A>G n.1907A>G c.6472A>G (p.Ile2158Val) c.6400A>G (p.Ile2134Val) c.2593A>G c.6427A>G (p.Ile2143Val) n.1899A>G c.6499A>G (p.Ile2167Val) c.5551A>G (p.Ile1851Val) c.6727A>G (p.Ile2243Val) c.6616A>G (p.Ile2206Val) c.6538A>G (p.Ile2180Val) c.6190A>G (p.Ile2064Val) c.5815A>G (p.Ile1939Val) c.6622A>G (p.Ile2208Val) c.6724A>G (p.Ile2242Val) c.6700A>G (p.Ile2234Val) c.6667A>G (p.Ile2223Val) c.6643A>G (p.Ile2215Val) c.6598A>G (p.Ile2200Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.53811392A>T | CA353259908 | CACNA1D | c.6532A>T (p.Ile2178Phe) n.1861A>T n.3471A>T n.1907A>T c.6472A>T (p.Ile2158Phe) c.6400A>T (p.Ile2134Phe) c.2593A>T c.6427A>T (p.Ile2143Phe) n.1899A>T c.6499A>T (p.Ile2167Phe) c.5551A>T (p.Ile1851Phe) c.6727A>T (p.Ile2243Phe) c.6616A>T (p.Ile2206Phe) c.6538A>T (p.Ile2180Phe) c.6190A>T (p.Ile2064Phe) c.5815A>T (p.Ile1939Phe) c.6622A>T (p.Ile2208Phe) c.6724A>T (p.Ile2242Phe) c.6700A>T (p.Ile2234Phe) c.6667A>T (p.Ile2223Phe) c.6643A>T (p.Ile2215Phe) c.6598A>T (p.Ile2200Phe) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53811393T>A | CA353259910 | CACNA1D | c.6533T>A (p.Ile2178Asn) n.1862T>A n.3472T>A n.1908T>A c.6473T>A (p.Ile2158Asn) c.6401T>A (p.Ile2134Asn) c.2594T>A c.6428T>A (p.Ile2143Asn) n.1900T>A c.6500T>A (p.Ile2167Asn) c.5552T>A (p.Ile1851Asn) c.6728T>A (p.Ile2243Asn) c.6617T>A (p.Ile2206Asn) c.6539T>A (p.Ile2180Asn) c.6191T>A (p.Ile2064Asn) c.5816T>A (p.Ile1939Asn) c.6623T>A (p.Ile2208Asn) c.6725T>A (p.Ile2242Asn) c.6701T>A (p.Ile2234Asn) c.6668T>A (p.Ile2223Asn) c.6644T>A (p.Ile2215Asn) c.6599T>A (p.Ile2200Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811393T>C | CA353259912 | CACNA1D | c.6533T>C (p.Ile2178Thr) n.1862T>C n.3472T>C n.1908T>C c.6473T>C (p.Ile2158Thr) c.6401T>C (p.Ile2134Thr) c.2594T>C c.6428T>C (p.Ile2143Thr) n.1900T>C c.6500T>C (p.Ile2167Thr) c.5552T>C (p.Ile1851Thr) c.6728T>C (p.Ile2243Thr) c.6617T>C (p.Ile2206Thr) c.6539T>C (p.Ile2180Thr) c.6191T>C (p.Ile2064Thr) c.5816T>C (p.Ile1939Thr) c.6623T>C (p.Ile2208Thr) c.6725T>C (p.Ile2242Thr) c.6701T>C (p.Ile2234Thr) c.6668T>C (p.Ile2223Thr) c.6644T>C (p.Ile2215Thr) c.6599T>C (p.Ile2200Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811393T>G | CA353259914 | CACNA1D | c.6533T>G (p.Ile2178Ser) n.1862T>G n.3472T>G n.1908T>G c.6473T>G (p.Ile2158Ser) c.6401T>G (p.Ile2134Ser) c.2594T>G c.6428T>G (p.Ile2143Ser) n.1900T>G c.6500T>G (p.Ile2167Ser) c.5552T>G (p.Ile1851Ser) c.6728T>G (p.Ile2243Ser) c.6617T>G (p.Ile2206Ser) c.6539T>G (p.Ile2180Ser) c.6191T>G (p.Ile2064Ser) c.5816T>G (p.Ile1939Ser) c.6623T>G (p.Ile2208Ser) c.6725T>G (p.Ile2242Ser) c.6701T>G (p.Ile2234Ser) c.6668T>G (p.Ile2223Ser) c.6644T>G (p.Ile2215Ser) c.6599T>G (p.Ile2200Ser) | |
3 | g.53811393T= | CA1365489066 | CACNA1D | c.6533T= (p.Ile2178=) n.1862T= n.3472T= n.1908T= c.6473T= (p.Ile2158=) c.6401T= (p.Ile2134=) c.2594T= c.6428T= (p.Ile2143=) n.1900T= c.6500T= (p.Ile2167=) c.5552T= (p.Ile1851=) c.6728T= (p.Ile2243=) c.6617T= (p.Ile2206=) c.6539T= (p.Ile2180=) c.6191T= (p.Ile2064=) c.5816T= (p.Ile1939=) c.6623T= (p.Ile2208=) c.6725T= (p.Ile2242=) c.6701T= (p.Ile2234=) c.6668T= (p.Ile2223=) c.6644T= (p.Ile2215=) c.6599T= (p.Ile2200=) | |
3 | g.53811394C>A | CA433895948 | CACNA1D | c.6534C>A (p.Ile2178=) n.1863C>A n.3473C>A n.1909C>A c.6474C>A (p.Ile2158=) c.6402C>A (p.Ile2134=) c.2595C>A c.6429C>A (p.Ile2143=) n.1901C>A c.6501C>A (p.Ile2167=) c.5553C>A (p.Ile1851=) c.6729C>A (p.Ile2243=) c.6618C>A (p.Ile2206=) c.6540C>A (p.Ile2180=) c.6192C>A (p.Ile2064=) c.5817C>A (p.Ile1939=) c.6624C>A (p.Ile2208=) c.6726C>A (p.Ile2242=) c.6702C>A (p.Ile2234=) c.6669C>A (p.Ile2223=) c.6645C>A (p.Ile2215=) c.6600C>A (p.Ile2200=) | gnomAD v4 |
3 | g.53811394C>G | CA353259917 | CACNA1D | c.6534C>G (p.Ile2178Met) n.1863C>G n.3473C>G n.1909C>G c.6474C>G (p.Ile2158Met) c.6402C>G (p.Ile2134Met) c.2595C>G c.6429C>G (p.Ile2143Met) n.1901C>G c.6501C>G (p.Ile2167Met) c.5553C>G (p.Ile1851Met) c.6729C>G (p.Ile2243Met) c.6618C>G (p.Ile2206Met) c.6540C>G (p.Ile2180Met) c.6192C>G (p.Ile2064Met) c.5817C>G (p.Ile1939Met) c.6624C>G (p.Ile2208Met) c.6726C>G (p.Ile2242Met) c.6702C>G (p.Ile2234Met) c.6669C>G (p.Ile2223Met) c.6645C>G (p.Ile2215Met) c.6600C>G (p.Ile2200Met) | |
3 | g.53811394C>T | CA433895949 | CACNA1D | c.6534C>T (p.Ile2178=) n.1863C>T n.3473C>T n.1909C>T c.6474C>T (p.Ile2158=) c.6402C>T (p.Ile2134=) c.2595C>T c.6429C>T (p.Ile2143=) n.1901C>T c.6501C>T (p.Ile2167=) c.5553C>T (p.Ile1851=) c.6729C>T (p.Ile2243=) c.6618C>T (p.Ile2206=) c.6540C>T (p.Ile2180=) c.6192C>T (p.Ile2064=) c.5817C>T (p.Ile1939=) c.6624C>T (p.Ile2208=) c.6726C>T (p.Ile2242=) c.6702C>T (p.Ile2234=) c.6669C>T (p.Ile2223=) c.6645C>T (p.Ile2215=) c.6600C>T (p.Ile2200=) | |
3 | g.53811395A= | CA1365489067 | CACNA1D | c.6535A= (p.Thr2179=) n.1864A= n.3474A= n.1910A= c.6475A= (p.Thr2159=) c.6403A= (p.Thr2135=) c.2596A= c.6430A= (p.Thr2144=) n.1902A= c.6502A= (p.Thr2168=) c.5554A= (p.Thr1852=) c.6730A= (p.Thr2244=) c.6619A= (p.Thr2207=) c.6541A= (p.Thr2181=) c.6193A= (p.Thr2065=) c.5818A= (p.Thr1940=) c.6625A= (p.Thr2209=) c.6727A= (p.Thr2243=) c.6703A= (p.Thr2235=) c.6670A= (p.Thr2224=) c.6646A= (p.Thr2216=) c.6601A= (p.Thr2201=) | |
3 | g.53811395A>C | CA353259923 | CACNA1D | c.6535A>C (p.Thr2179Pro) n.1864A>C n.3474A>C n.1910A>C c.6475A>C (p.Thr2159Pro) c.6403A>C (p.Thr2135Pro) c.2596A>C c.6430A>C (p.Thr2144Pro) n.1902A>C c.6502A>C (p.Thr2168Pro) c.5554A>C (p.Thr1852Pro) c.6730A>C (p.Thr2244Pro) c.6619A>C (p.Thr2207Pro) c.6541A>C (p.Thr2181Pro) c.6193A>C (p.Thr2065Pro) c.5818A>C (p.Thr1940Pro) c.6625A>C (p.Thr2209Pro) c.6727A>C (p.Thr2243Pro) c.6703A>C (p.Thr2235Pro) c.6670A>C (p.Thr2224Pro) c.6646A>C (p.Thr2216Pro) c.6601A>C (p.Thr2201Pro) | |
3 | g.53811395A>G | CA353259921 | CACNA1D | c.6535A>G (p.Thr2179Ala) n.1864A>G n.3474A>G n.1910A>G c.6475A>G (p.Thr2159Ala) c.6403A>G (p.Thr2135Ala) c.2596A>G c.6430A>G (p.Thr2144Ala) n.1902A>G c.6502A>G (p.Thr2168Ala) c.5554A>G (p.Thr1852Ala) c.6730A>G (p.Thr2244Ala) c.6619A>G (p.Thr2207Ala) c.6541A>G (p.Thr2181Ala) c.6193A>G (p.Thr2065Ala) c.5818A>G (p.Thr1940Ala) c.6625A>G (p.Thr2209Ala) c.6727A>G (p.Thr2243Ala) c.6703A>G (p.Thr2235Ala) c.6670A>G (p.Thr2224Ala) c.6646A>G (p.Thr2216Ala) c.6601A>G (p.Thr2201Ala) | dbSNP gnomAD v4 |
3 | g.53811395A>T | CA353259925 | CACNA1D | c.6535A>T (p.Thr2179Ser) n.1864A>T n.3474A>T n.1910A>T c.6475A>T (p.Thr2159Ser) c.6403A>T (p.Thr2135Ser) c.2596A>T c.6430A>T (p.Thr2144Ser) n.1902A>T c.6502A>T (p.Thr2168Ser) c.5554A>T (p.Thr1852Ser) c.6730A>T (p.Thr2244Ser) c.6619A>T (p.Thr2207Ser) c.6541A>T (p.Thr2181Ser) c.6193A>T (p.Thr2065Ser) c.5818A>T (p.Thr1940Ser) c.6625A>T (p.Thr2209Ser) c.6727A>T (p.Thr2243Ser) c.6703A>T (p.Thr2235Ser) c.6670A>T (p.Thr2224Ser) c.6646A>T (p.Thr2216Ser) c.6601A>T (p.Thr2201Ser) | gnomAD v4 COSMIC |
3 | g.53811396C>A | CA353259928 | CACNA1D | c.6536C>A (p.Thr2179Asn) n.1865C>A n.3475C>A n.1911C>A c.6476C>A (p.Thr2159Asn) c.6404C>A (p.Thr2135Asn) c.2597C>A c.6431C>A (p.Thr2144Asn) n.1903C>A c.6503C>A (p.Thr2168Asn) c.5555C>A (p.Thr1852Asn) c.6731C>A (p.Thr2244Asn) c.6620C>A (p.Thr2207Asn) c.6542C>A (p.Thr2181Asn) c.6194C>A (p.Thr2065Asn) c.5819C>A (p.Thr1940Asn) c.6626C>A (p.Thr2209Asn) c.6728C>A (p.Thr2243Asn) c.6704C>A (p.Thr2235Asn) c.6671C>A (p.Thr2224Asn) c.6647C>A (p.Thr2216Asn) c.6602C>A (p.Thr2201Asn) | gnomAD v4 |
3 | g.53811396C>G | CA353259932 | CACNA1D | c.6536C>G (p.Thr2179Ser) n.1865C>G n.3475C>G n.1911C>G c.6476C>G (p.Thr2159Ser) c.6404C>G (p.Thr2135Ser) c.2597C>G c.6431C>G (p.Thr2144Ser) n.1903C>G c.6503C>G (p.Thr2168Ser) c.5555C>G (p.Thr1852Ser) c.6731C>G (p.Thr2244Ser) c.6620C>G (p.Thr2207Ser) c.6542C>G (p.Thr2181Ser) c.6194C>G (p.Thr2065Ser) c.5819C>G (p.Thr1940Ser) c.6626C>G (p.Thr2209Ser) c.6728C>G (p.Thr2243Ser) c.6704C>G (p.Thr2235Ser) c.6671C>G (p.Thr2224Ser) c.6647C>G (p.Thr2216Ser) c.6602C>G (p.Thr2201Ser) | |
3 | g.53811396C>T | CA353259930 | CACNA1D | c.6536C>T (p.Thr2179Ile) n.1865C>T n.3475C>T n.1911C>T c.6476C>T (p.Thr2159Ile) c.6404C>T (p.Thr2135Ile) c.2597C>T c.6431C>T (p.Thr2144Ile) n.1903C>T c.6503C>T (p.Thr2168Ile) c.5555C>T (p.Thr1852Ile) c.6731C>T (p.Thr2244Ile) c.6620C>T (p.Thr2207Ile) c.6542C>T (p.Thr2181Ile) c.6194C>T (p.Thr2065Ile) c.5819C>T (p.Thr1940Ile) c.6626C>T (p.Thr2209Ile) c.6728C>T (p.Thr2243Ile) c.6704C>T (p.Thr2235Ile) c.6671C>T (p.Thr2224Ile) c.6647C>T (p.Thr2216Ile) c.6602C>T (p.Thr2201Ile) | gnomAD v4 |
3 | g.53811397C>A | CA433895955 | CACNA1D | c.6537C>A (p.Thr2179=) n.1866C>A n.3476C>A n.1912C>A c.6477C>A (p.Thr2159=) c.6405C>A (p.Thr2135=) c.2598C>A c.6432C>A (p.Thr2144=) n.1904C>A c.6504C>A (p.Thr2168=) c.5556C>A (p.Thr1852=) c.6732C>A (p.Thr2244=) c.6621C>A (p.Thr2207=) c.6543C>A (p.Thr2181=) c.6195C>A (p.Thr2065=) c.5820C>A (p.Thr1940=) c.6627C>A (p.Thr2209=) c.6729C>A (p.Thr2243=) c.6705C>A (p.Thr2235=) c.6672C>A (p.Thr2224=) c.6648C>A (p.Thr2216=) c.6603C>A (p.Thr2201=) | gnomAD v4 |
3 | g.53811397C>G | CA433895956 | CACNA1D | c.6537C>G (p.Thr2179=) n.1866C>G n.3476C>G n.1912C>G c.6477C>G (p.Thr2159=) c.6405C>G (p.Thr2135=) c.2598C>G c.6432C>G (p.Thr2144=) n.1904C>G c.6504C>G (p.Thr2168=) c.5556C>G (p.Thr1852=) c.6732C>G (p.Thr2244=) c.6621C>G (p.Thr2207=) c.6543C>G (p.Thr2181=) c.6195C>G (p.Thr2065=) c.5820C>G (p.Thr1940=) c.6627C>G (p.Thr2209=) c.6729C>G (p.Thr2243=) c.6705C>G (p.Thr2235=) c.6672C>G (p.Thr2224=) c.6648C>G (p.Thr2216=) c.6603C>G (p.Thr2201=) | |
3 | g.53811397C>T | CA433895954 | CACNA1D | c.6537C>T (p.Thr2179=) n.1866C>T n.3476C>T n.1912C>T c.6477C>T (p.Thr2159=) c.6405C>T (p.Thr2135=) c.2598C>T c.6432C>T (p.Thr2144=) n.1904C>T c.6504C>T (p.Thr2168=) c.5556C>T (p.Thr1852=) c.6732C>T (p.Thr2244=) c.6621C>T (p.Thr2207=) c.6543C>T (p.Thr2181=) c.6195C>T (p.Thr2065=) c.5820C>T (p.Thr1940=) c.6627C>T (p.Thr2209=) c.6729C>T (p.Thr2243=) c.6705C>T (p.Thr2235=) c.6672C>T (p.Thr2224=) c.6648C>T (p.Thr2216=) c.6603C>T (p.Thr2201=) | gnomAD v4 |
3 | g.53811398A= | CA1365489068 | CACNA1D | c.6538A= (p.Thr2180=) n.1867A= n.3477A= n.1913A= c.6478A= (p.Thr2160=) c.6406A= (p.Thr2136=) c.2599A= c.6433A= (p.Thr2145=) n.1905A= c.6505A= (p.Thr2169=) c.5557A= (p.Thr1853=) c.6733A= (p.Thr2245=) c.6622A= (p.Thr2208=) c.6544A= (p.Thr2182=) c.6196A= (p.Thr2066=) c.5821A= (p.Thr1941=) c.6628A= (p.Thr2210=) c.6730A= (p.Thr2244=) c.6706A= (p.Thr2236=) c.6673A= (p.Thr2225=) c.6649A= (p.Thr2217=) c.6604A= (p.Thr2202=) | |
3 | g.53811398A>C | CA74870282 | CACNA1D | c.6538A>C (p.Thr2180Pro) n.1867A>C n.3477A>C n.1913A>C c.6478A>C (p.Thr2160Pro) c.6406A>C (p.Thr2136Pro) c.2599A>C c.6433A>C (p.Thr2145Pro) n.1905A>C c.6505A>C (p.Thr2169Pro) c.5557A>C (p.Thr1853Pro) c.6733A>C (p.Thr2245Pro) c.6622A>C (p.Thr2208Pro) c.6544A>C (p.Thr2182Pro) c.6196A>C (p.Thr2066Pro) c.5821A>C (p.Thr1941Pro) c.6628A>C (p.Thr2210Pro) c.6730A>C (p.Thr2244Pro) c.6706A>C (p.Thr2236Pro) c.6673A>C (p.Thr2225Pro) c.6649A>C (p.Thr2217Pro) c.6604A>C (p.Thr2202Pro) | dbSNP |
3 | g.53811398A>G | CA2455454 | CACNA1D | c.6538A>G (p.Thr2180Ala) n.1867A>G n.3477A>G n.1913A>G c.6478A>G (p.Thr2160Ala) c.6406A>G (p.Thr2136Ala) c.2599A>G c.6433A>G (p.Thr2145Ala) n.1905A>G c.6505A>G (p.Thr2169Ala) c.5557A>G (p.Thr1853Ala) c.6733A>G (p.Thr2245Ala) c.6622A>G (p.Thr2208Ala) c.6544A>G (p.Thr2182Ala) c.6196A>G (p.Thr2066Ala) c.5821A>G (p.Thr1941Ala) c.6628A>G (p.Thr2210Ala) c.6730A>G (p.Thr2244Ala) c.6706A>G (p.Thr2236Ala) c.6673A>G (p.Thr2225Ala) c.6649A>G (p.Thr2217Ala) c.6604A>G (p.Thr2202Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811398A>T | CA353259939 | CACNA1D | c.6538A>T (p.Thr2180Ser) n.1867A>T n.3477A>T n.1913A>T c.6478A>T (p.Thr2160Ser) c.6406A>T (p.Thr2136Ser) c.2599A>T c.6433A>T (p.Thr2145Ser) n.1905A>T c.6505A>T (p.Thr2169Ser) c.5557A>T (p.Thr1853Ser) c.6733A>T (p.Thr2245Ser) c.6622A>T (p.Thr2208Ser) c.6544A>T (p.Thr2182Ser) c.6196A>T (p.Thr2066Ser) c.5821A>T (p.Thr1941Ser) c.6628A>T (p.Thr2210Ser) c.6730A>T (p.Thr2244Ser) c.6706A>T (p.Thr2236Ser) c.6673A>T (p.Thr2225Ser) c.6649A>T (p.Thr2217Ser) c.6604A>T (p.Thr2202Ser) | |
3 | g.53811399C>A | CA353259944 | CACNA1D | c.6539C>A (p.Thr2180Asn) n.1868C>A n.3478C>A n.1914C>A c.6479C>A (p.Thr2160Asn) c.6407C>A (p.Thr2136Asn) c.2600C>A c.6434C>A (p.Thr2145Asn) n.1906C>A c.6506C>A (p.Thr2169Asn) c.5558C>A (p.Thr1853Asn) c.6734C>A (p.Thr2245Asn) c.6623C>A (p.Thr2208Asn) c.6545C>A (p.Thr2182Asn) c.6197C>A (p.Thr2066Asn) c.5822C>A (p.Thr1941Asn) c.6629C>A (p.Thr2210Asn) c.6731C>A (p.Thr2244Asn) c.6707C>A (p.Thr2236Asn) c.6674C>A (p.Thr2225Asn) c.6650C>A (p.Thr2217Asn) c.6605C>A (p.Thr2202Asn) | gnomAD v4 |
3 | g.53811399C= | CA1365489069 | CACNA1D | c.6539C= (p.Thr2180=) n.1868C= n.3478C= n.1914C= c.6479C= (p.Thr2160=) c.6407C= (p.Thr2136=) c.2600C= c.6434C= (p.Thr2145=) n.1906C= c.6506C= (p.Thr2169=) c.5558C= (p.Thr1853=) c.6734C= (p.Thr2245=) c.6623C= (p.Thr2208=) c.6545C= (p.Thr2182=) c.6197C= (p.Thr2066=) c.5822C= (p.Thr1941=) c.6629C= (p.Thr2210=) c.6731C= (p.Thr2244=) c.6707C= (p.Thr2236=) c.6674C= (p.Thr2225=) c.6650C= (p.Thr2217=) c.6605C= (p.Thr2202=) | |
3 | g.53811399C>G | CA353259946 | CACNA1D | c.6539C>G (p.Thr2180Ser) n.1868C>G n.3478C>G n.1914C>G c.6479C>G (p.Thr2160Ser) c.6407C>G (p.Thr2136Ser) c.2600C>G c.6434C>G (p.Thr2145Ser) n.1906C>G c.6506C>G (p.Thr2169Ser) c.5558C>G (p.Thr1853Ser) c.6734C>G (p.Thr2245Ser) c.6623C>G (p.Thr2208Ser) c.6545C>G (p.Thr2182Ser) c.6197C>G (p.Thr2066Ser) c.5822C>G (p.Thr1941Ser) c.6629C>G (p.Thr2210Ser) c.6731C>G (p.Thr2244Ser) c.6707C>G (p.Thr2236Ser) c.6674C>G (p.Thr2225Ser) c.6650C>G (p.Thr2217Ser) c.6605C>G (p.Thr2202Ser) | |
3 | g.53811399C>T | CA353259947 | CACNA1D | c.6539C>T (p.Thr2180Ile) n.1868C>T n.3478C>T n.1914C>T c.6479C>T (p.Thr2160Ile) c.6407C>T (p.Thr2136Ile) c.2600C>T c.6434C>T (p.Thr2145Ile) n.1906C>T c.6506C>T (p.Thr2169Ile) c.5558C>T (p.Thr1853Ile) c.6734C>T (p.Thr2245Ile) c.6623C>T (p.Thr2208Ile) c.6545C>T (p.Thr2182Ile) c.6197C>T (p.Thr2066Ile) c.5822C>T (p.Thr1941Ile) c.6629C>T (p.Thr2210Ile) c.6731C>T (p.Thr2244Ile) c.6707C>T (p.Thr2236Ile) c.6674C>T (p.Thr2225Ile) c.6650C>T (p.Thr2217Ile) c.6605C>T (p.Thr2202Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811400C>A | CA433895963 | CACNA1D | c.6540C>A (p.Thr2180=) n.1869C>A n.3479C>A n.1915C>A c.6480C>A (p.Thr2160=) c.6408C>A (p.Thr2136=) c.2601C>A c.6435C>A (p.Thr2145=) n.1907C>A c.6507C>A (p.Thr2169=) c.5559C>A (p.Thr1853=) c.6735C>A (p.Thr2245=) c.6624C>A (p.Thr2208=) c.6546C>A (p.Thr2182=) c.6198C>A (p.Thr2066=) c.5823C>A (p.Thr1941=) c.6630C>A (p.Thr2210=) c.6732C>A (p.Thr2244=) c.6708C>A (p.Thr2236=) c.6675C>A (p.Thr2225=) c.6651C>A (p.Thr2217=) c.6606C>A (p.Thr2202=) | gnomAD v4 |
3 | g.53811400C>G | CA433895964 | CACNA1D | c.6540C>G (p.Thr2180=) n.1869C>G n.3479C>G n.1915C>G c.6480C>G (p.Thr2160=) c.6408C>G (p.Thr2136=) c.2601C>G c.6435C>G (p.Thr2145=) n.1907C>G c.6507C>G (p.Thr2169=) c.5559C>G (p.Thr1853=) c.6735C>G (p.Thr2245=) c.6624C>G (p.Thr2208=) c.6546C>G (p.Thr2182=) c.6198C>G (p.Thr2066=) c.5823C>G (p.Thr1941=) c.6630C>G (p.Thr2210=) c.6732C>G (p.Thr2244=) c.6708C>G (p.Thr2236=) c.6675C>G (p.Thr2225=) c.6651C>G (p.Thr2217=) c.6606C>G (p.Thr2202=) | |
3 | g.53811400C>T | CA433895966 | CACNA1D | c.6540C>T (p.Thr2180=) n.1869C>T n.3479C>T n.1915C>T c.6480C>T (p.Thr2160=) c.6408C>T (p.Thr2136=) c.2601C>T c.6435C>T (p.Thr2145=) n.1907C>T c.6507C>T (p.Thr2169=) c.5559C>T (p.Thr1853=) c.6735C>T (p.Thr2245=) c.6624C>T (p.Thr2208=) c.6546C>T (p.Thr2182=) c.6198C>T (p.Thr2066=) c.5823C>T (p.Thr1941=) c.6630C>T (p.Thr2210=) c.6732C>T (p.Thr2244=) c.6708C>T (p.Thr2236=) c.6675C>T (p.Thr2225=) c.6651C>T (p.Thr2217=) c.6606C>T (p.Thr2202=) | |
3 | g.53811401T>A | CA353259951 | CACNA1D | c.6541T>A (p.Leu2181Met) n.1870T>A n.3480T>A n.1916T>A c.6481T>A (p.Leu2161Met) c.6409T>A (p.Leu2137Met) c.2602T>A c.6436T>A (p.Leu2146Met) n.1908T>A c.6508T>A (p.Leu2170Met) c.5560T>A (p.Leu1854Met) c.6736T>A (p.Leu2246Met) c.6625T>A (p.Leu2209Met) c.6547T>A (p.Leu2183Met) c.6199T>A (p.Leu2067Met) c.5824T>A (p.Leu1942Met) c.6631T>A (p.Leu2211Met) c.6733T>A (p.Leu2245Met) c.6709T>A (p.Leu2237Met) c.6676T>A (p.Leu2226Met) c.6652T>A (p.Leu2218Met) c.6607T>A (p.Leu2203Met) | gnomAD v4 |
3 | g.53811401T>C | CA433895968 | CACNA1D | c.6541T>C (p.Leu2181=) n.1870T>C n.3480T>C n.1916T>C c.6481T>C (p.Leu2161=) c.6409T>C (p.Leu2137=) c.2602T>C c.6436T>C (p.Leu2146=) n.1908T>C c.6508T>C (p.Leu2170=) c.5560T>C (p.Leu1854=) c.6736T>C (p.Leu2246=) c.6625T>C (p.Leu2209=) c.6547T>C (p.Leu2183=) c.6199T>C (p.Leu2067=) c.5824T>C (p.Leu1942=) c.6631T>C (p.Leu2211=) c.6733T>C (p.Leu2245=) c.6709T>C (p.Leu2237=) c.6676T>C (p.Leu2226=) c.6652T>C (p.Leu2218=) c.6607T>C (p.Leu2203=) | gnomAD v4 |
3 | g.53811401T>G | CA353259953 | CACNA1D | c.6541T>G (p.Leu2181Val) n.1870T>G n.3480T>G n.1916T>G c.6481T>G (p.Leu2161Val) c.6409T>G (p.Leu2137Val) c.2602T>G c.6436T>G (p.Leu2146Val) n.1908T>G c.6508T>G (p.Leu2170Val) c.5560T>G (p.Leu1854Val) c.6736T>G (p.Leu2246Val) c.6625T>G (p.Leu2209Val) c.6547T>G (p.Leu2183Val) c.6199T>G (p.Leu2067Val) c.5824T>G (p.Leu1942Val) c.6631T>G (p.Leu2211Val) c.6733T>G (p.Leu2245Val) c.6709T>G (p.Leu2237Val) c.6676T>G (p.Leu2226Val) c.6652T>G (p.Leu2218Val) c.6607T>G (p.Leu2203Val) | |
3 | g.53811402T>A | CA353259956 | CACNA1D | c.6542T>A (p.Leu2181Ter) n.1871T>A n.3481T>A n.1917T>A c.6482T>A (p.Leu2161Ter) c.6410T>A (p.Leu2137Ter) c.2603T>A c.6437T>A (p.Leu2146Ter) n.1909T>A c.6509T>A (p.Leu2170Ter) c.5561T>A (p.Leu1854Ter) c.6737T>A (p.Leu2246Ter) c.6626T>A (p.Leu2209Ter) c.6548T>A (p.Leu2183Ter) c.6200T>A (p.Leu2067Ter) c.5825T>A (p.Leu1942Ter) c.6632T>A (p.Leu2211Ter) c.6734T>A (p.Leu2245Ter) c.6710T>A (p.Leu2237Ter) c.6677T>A (p.Leu2226Ter) c.6653T>A (p.Leu2218Ter) c.6608T>A (p.Leu2203Ter) | |
3 | g.53811402T>C | CA353259958 | CACNA1D | c.6542T>C (p.Leu2181Ser) n.1871T>C n.3481T>C n.1917T>C c.6482T>C (p.Leu2161Ser) c.6410T>C (p.Leu2137Ser) c.2603T>C c.6437T>C (p.Leu2146Ser) n.1909T>C c.6509T>C (p.Leu2170Ser) c.5561T>C (p.Leu1854Ser) c.6737T>C (p.Leu2246Ser) c.6626T>C (p.Leu2209Ser) c.6548T>C (p.Leu2183Ser) c.6200T>C (p.Leu2067Ser) c.5825T>C (p.Leu1942Ser) c.6632T>C (p.Leu2211Ser) c.6734T>C (p.Leu2245Ser) c.6710T>C (p.Leu2237Ser) c.6677T>C (p.Leu2226Ser) c.6653T>C (p.Leu2218Ser) c.6608T>C (p.Leu2203Ser) | dbSNP |
3 | g.53811402T>G | CA353259960 | CACNA1D | c.6542T>G (p.Leu2181Trp) n.1871T>G n.3481T>G n.1917T>G c.6482T>G (p.Leu2161Trp) c.6410T>G (p.Leu2137Trp) c.2603T>G c.6437T>G (p.Leu2146Trp) n.1909T>G c.6509T>G (p.Leu2170Trp) c.5561T>G (p.Leu1854Trp) c.6737T>G (p.Leu2246Trp) c.6626T>G (p.Leu2209Trp) c.6548T>G (p.Leu2183Trp) c.6200T>G (p.Leu2067Trp) c.5825T>G (p.Leu1942Trp) c.6632T>G (p.Leu2211Trp) c.6734T>G (p.Leu2245Trp) c.6710T>G (p.Leu2237Trp) c.6677T>G (p.Leu2226Trp) c.6653T>G (p.Leu2218Trp) c.6608T>G (p.Leu2203Trp) | |
3 | g.53811402T= | CA1365489070 | CACNA1D | c.6542T= (p.Leu2181=) n.1871T= n.3481T= n.1917T= c.6482T= (p.Leu2161=) c.6410T= (p.Leu2137=) c.2603T= c.6437T= (p.Leu2146=) n.1909T= c.6509T= (p.Leu2170=) c.5561T= (p.Leu1854=) c.6737T= (p.Leu2246=) c.6626T= (p.Leu2209=) c.6548T= (p.Leu2183=) c.6200T= (p.Leu2067=) c.5825T= (p.Leu1942=) c.6632T= (p.Leu2211=) c.6734T= (p.Leu2245=) c.6710T= (p.Leu2237=) c.6677T= (p.Leu2226=) c.6653T= (p.Leu2218=) c.6608T= (p.Leu2203=) | |
3 | g.53811403G>A | CA433895974 | CACNA1D | c.6543G>A (p.Leu2181=) n.1872G>A n.3482G>A n.1918G>A c.6483G>A (p.Leu2161=) c.6411G>A (p.Leu2137=) c.2604G>A c.6438G>A (p.Leu2146=) n.1910G>A c.6510G>A (p.Leu2170=) c.5562G>A (p.Leu1854=) c.6738G>A (p.Leu2246=) c.6627G>A (p.Leu2209=) c.6549G>A (p.Leu2183=) c.6201G>A (p.Leu2067=) c.5826G>A (p.Leu1942=) c.6633G>A (p.Leu2211=) c.6735G>A (p.Leu2245=) c.6711G>A (p.Leu2237=) c.6678G>A (p.Leu2226=) c.6654G>A (p.Leu2218=) c.6609G>A (p.Leu2203=) | gnomAD v4 |
3 | g.53811403G>C | CA353259964 | CACNA1D | c.6543G>C (p.Leu2181Phe) n.1872G>C n.3482G>C n.1918G>C c.6483G>C (p.Leu2161Phe) c.6411G>C (p.Leu2137Phe) c.2604G>C c.6438G>C (p.Leu2146Phe) n.1910G>C c.6510G>C (p.Leu2170Phe) c.5562G>C (p.Leu1854Phe) c.6738G>C (p.Leu2246Phe) c.6627G>C (p.Leu2209Phe) c.6549G>C (p.Leu2183Phe) c.6201G>C (p.Leu2067Phe) c.5826G>C (p.Leu1942Phe) c.6633G>C (p.Leu2211Phe) c.6735G>C (p.Leu2245Phe) c.6711G>C (p.Leu2237Phe) c.6678G>C (p.Leu2226Phe) c.6654G>C (p.Leu2218Phe) c.6609G>C (p.Leu2203Phe) | |
3 | g.53811403G>T | CA353259965 | CACNA1D | c.6543G>T (p.Leu2181Phe) n.1872G>T n.3482G>T n.1918G>T c.6483G>T (p.Leu2161Phe) c.6411G>T (p.Leu2137Phe) c.2604G>T c.6438G>T (p.Leu2146Phe) n.1910G>T c.6510G>T (p.Leu2170Phe) c.5562G>T (p.Leu1854Phe) c.6738G>T (p.Leu2246Phe) c.6627G>T (p.Leu2209Phe) c.6549G>T (p.Leu2183Phe) c.6201G>T (p.Leu2067Phe) c.5826G>T (p.Leu1942Phe) c.6633G>T (p.Leu2211Phe) c.6735G>T (p.Leu2245Phe) c.6711G>T (p.Leu2237Phe) c.6678G>T (p.Leu2226Phe) c.6654G>T (p.Leu2218Phe) c.6609G>T (p.Leu2203Phe) | |
3 | g.53811404T>A | CA353259968 | CACNA1D | c.6544T>A (p.Ter2182Lys) n.1873T>A n.3483T>A n.1919T>A c.6484T>A (p.Ter2162Lys) c.6412T>A (p.Ter2138Lys) c.2605T>A c.6439T>A (p.Ter2147Lys) n.1911T>A c.6511T>A (p.Ter2171Lys) c.5563T>A (p.Ter1855Lys) c.6739T>A (p.Ter2247Lys) c.6628T>A (p.Ter2210Lys) c.6550T>A (p.Ter2184Lys) c.6202T>A (p.Ter2068Lys) c.5827T>A (p.Ter1943Lys) c.6634T>A (p.Ter2212Lys) c.6736T>A (p.Ter2246Lys) c.6712T>A (p.Ter2238Lys) c.6679T>A (p.Ter2227Lys) c.6655T>A (p.Ter2219Lys) c.6610T>A (p.Ter2204Lys) | |
3 | g.53811404T>C | CA353259972 | CACNA1D | c.6544T>C (p.Ter2182Gln) n.1873T>C n.3483T>C n.1919T>C c.6484T>C (p.Ter2162Gln) c.6412T>C (p.Ter2138Gln) c.2605T>C c.6439T>C (p.Ter2147Gln) n.1911T>C c.6511T>C (p.Ter2171Gln) c.5563T>C (p.Ter1855Gln) c.6739T>C (p.Ter2247Gln) c.6628T>C (p.Ter2210Gln) c.6550T>C (p.Ter2184Gln) c.6202T>C (p.Ter2068Gln) c.5827T>C (p.Ter1943Gln) c.6634T>C (p.Ter2212Gln) c.6736T>C (p.Ter2246Gln) c.6712T>C (p.Ter2238Gln) c.6679T>C (p.Ter2227Gln) c.6655T>C (p.Ter2219Gln) c.6610T>C (p.Ter2204Gln) | ClinVar gnomAD v4 |
3 | g.53811404T>G | CA353259970 | CACNA1D | c.6544T>G (p.Ter2182Glu) n.1873T>G n.3483T>G n.1919T>G c.6484T>G (p.Ter2162Glu) c.6412T>G (p.Ter2138Glu) c.2605T>G c.6439T>G (p.Ter2147Glu) n.1911T>G c.6511T>G (p.Ter2171Glu) c.5563T>G (p.Ter1855Glu) c.6739T>G (p.Ter2247Glu) c.6628T>G (p.Ter2210Glu) c.6550T>G (p.Ter2184Glu) c.6202T>G (p.Ter2068Glu) c.5827T>G (p.Ter1943Glu) c.6634T>G (p.Ter2212Glu) c.6736T>G (p.Ter2246Glu) c.6712T>G (p.Ter2238Glu) c.6679T>G (p.Ter2227Glu) c.6655T>G (p.Ter2219Glu) c.6610T>G (p.Ter2204Glu) | |
3 | g.53811405A>C | CA353259974 | CACNA1D | c.6545A>C (p.Ter2182Ser) n.1874A>C n.3484A>C n.1920A>C c.6485A>C (p.Ter2162Ser) c.6413A>C (p.Ter2138Ser) c.2606A>C c.6440A>C (p.Ter2147Ser) n.1912A>C c.6512A>C (p.Ter2171Ser) c.5564A>C (p.Ter1855Ser) c.6740A>C (p.Ter2247Ser) c.6629A>C (p.Ter2210Ser) c.6551A>C (p.Ter2184Ser) c.6203A>C (p.Ter2068Ser) c.5828A>C (p.Ter1943Ser) c.6635A>C (p.Ter2212Ser) c.6737A>C (p.Ter2246Ser) c.6713A>C (p.Ter2238Ser) c.6680A>C (p.Ter2227Ser) c.6656A>C (p.Ter2219Ser) c.6611A>C (p.Ter2204Ser) | |
3 | g.53811405A>G | CA353259977 | CACNA1D | c.6545A>G (p.Ter2182Trp) n.1874A>G n.3484A>G n.1920A>G c.6485A>G (p.Ter2162Trp) c.6413A>G (p.Ter2138Trp) c.2606A>G c.6440A>G (p.Ter2147Trp) n.1912A>G c.6512A>G (p.Ter2171Trp) c.5564A>G (p.Ter1855Trp) c.6740A>G (p.Ter2247Trp) c.6629A>G (p.Ter2210Trp) c.6551A>G (p.Ter2184Trp) c.6203A>G (p.Ter2068Trp) c.5828A>G (p.Ter1943Trp) c.6635A>G (p.Ter2212Trp) c.6737A>G (p.Ter2246Trp) c.6713A>G (p.Ter2238Trp) c.6680A>G (p.Ter2227Trp) c.6656A>G (p.Ter2219Trp) c.6611A>G (p.Ter2204Trp) | |
3 | g.53811405A>T | CA353259979 | CACNA1D | c.6545A>T (p.Ter2182Leu) n.1874A>T n.3484A>T n.1920A>T c.6485A>T (p.Ter2162Leu) c.6413A>T (p.Ter2138Leu) c.2606A>T c.6440A>T (p.Ter2147Leu) n.1912A>T c.6512A>T (p.Ter2171Leu) c.5564A>T (p.Ter1855Leu) c.6740A>T (p.Ter2247Leu) c.6629A>T (p.Ter2210Leu) c.6551A>T (p.Ter2184Leu) c.6203A>T (p.Ter2068Leu) c.5828A>T (p.Ter1943Leu) c.6635A>T (p.Ter2212Leu) c.6737A>T (p.Ter2246Leu) c.6713A>T (p.Ter2238Leu) c.6680A>T (p.Ter2227Leu) c.6656A>T (p.Ter2219Leu) c.6611A>T (p.Ter2204Leu) | |
3 | g.53811406G>A | CA433895976 | CACNA1D | c.6546G>A (p.Ter2182=) n.1875G>A n.3485G>A n.1921G>A c.6486G>A (p.Ter2162=) c.6414G>A (p.Ter2138=) c.2607G>A c.6441G>A (p.Ter2147=) n.1913G>A c.6513G>A (p.Ter2171=) c.5565G>A (p.Ter1855=) c.6741G>A (p.Ter2247=) c.6630G>A (p.Ter2210=) c.6552G>A (p.Ter2184=) c.6204G>A (p.Ter2068=) c.5829G>A (p.Ter1943=) c.6636G>A (p.Ter2212=) c.6738G>A (p.Ter2246=) c.6714G>A (p.Ter2238=) c.6681G>A (p.Ter2227=) c.6657G>A (p.Ter2219=) c.6612G>A (p.Ter2204=) | gnomAD v4 |
3 | g.53811406G>C | CA353259983 | CACNA1D | c.6546G>C (p.Ter2182Tyr) n.1875G>C n.3485G>C n.1921G>C c.6486G>C (p.Ter2162Tyr) c.6414G>C (p.Ter2138Tyr) c.2607G>C c.6441G>C (p.Ter2147Tyr) n.1913G>C c.6513G>C (p.Ter2171Tyr) c.5565G>C (p.Ter1855Tyr) c.6741G>C (p.Ter2247Tyr) c.6630G>C (p.Ter2210Tyr) c.6552G>C (p.Ter2184Tyr) c.6204G>C (p.Ter2068Tyr) c.5829G>C (p.Ter1943Tyr) c.6636G>C (p.Ter2212Tyr) c.6738G>C (p.Ter2246Tyr) c.6714G>C (p.Ter2238Tyr) c.6681G>C (p.Ter2227Tyr) c.6657G>C (p.Ter2219Tyr) c.6612G>C (p.Ter2204Tyr) | |
3 | g.53811406G>T | CA353259985 | CACNA1D | c.6546G>T (p.Ter2182Tyr) n.1875G>T n.3485G>T n.1921G>T c.6486G>T (p.Ter2162Tyr) c.6414G>T (p.Ter2138Tyr) c.2607G>T c.6441G>T (p.Ter2147Tyr) n.1913G>T c.6513G>T (p.Ter2171Tyr) c.5565G>T (p.Ter1855Tyr) c.6741G>T (p.Ter2247Tyr) c.6630G>T (p.Ter2210Tyr) c.6552G>T (p.Ter2184Tyr) c.6204G>T (p.Ter2068Tyr) c.5829G>T (p.Ter1943Tyr) c.6636G>T (p.Ter2212Tyr) c.6738G>T (p.Ter2246Tyr) c.6714G>T (p.Ter2238Tyr) c.6681G>T (p.Ter2227Tyr) c.6657G>T (p.Ter2219Tyr) c.6612G>T (p.Ter2204Tyr) | |
3 | g.53811406_53811407delinsGC | CA1365489071 | CACNA1D | c.6546_*1delinsGC (n.[c.6546_*1delinsGC;Ter2182=]) n.1875_1876delinsGC n.3485_3486delinsGC n.1921_1922delinsGC c.6486_*1delinsGC (n.[c.6486_*1delinsGC;Ter2162=]) c.6414_6415delinsGC (n.[c.6414_6415delinsGC;Ter2138=]) c.2607_2608delinsGC n.1913_1914delinsGC c.5565_5566delinsGC (n.[c.5565_5566delinsGC;Ter1855=]) c.6414_*1delinsGC (n.[c.6414_*1delinsGC;Ter2138=]) c.6441_*1delinsGC (n.[c.6441_*1delinsGC;Ter2147=]) c.6741_*1delinsGC (n.[c.6741_*1delinsGC;Ter2247=]) c.6630_*1delinsGC (n.[c.6630_*1delinsGC;Ter2210=]) c.6552_*1delinsGC (n.[c.6552_*1delinsGC;Ter2184=]) c.6204_*1delinsGC (n.[c.6204_*1delinsGC;Ter2068=]) c.5829_*1delinsGC (n.[c.5829_*1delinsGC;Ter1943=]) c.6636_*1delinsGC (n.[c.6636_*1delinsGC;Ter2212=]) c.6738_*1delinsGC (n.[c.6738_*1delinsGC;Ter2246=]) c.6714_*1delinsGC (n.[c.6714_*1delinsGC;Ter2238=]) c.6681_*1delinsGC (n.[c.6681_*1delinsGC;Ter2227=]) c.6657_*1delinsGC (n.[c.6657_*1delinsGC;Ter2219=]) c.6612_*1delinsGC (n.[c.6612_*1delinsGC;Ter2204=]) | |
3 | g.53811407C>A | CA543530604 | CACNA1D | c.*1C>A (n.*1C>A) n.1876C>A n.3486C>A n.1922C>A c.6415C>A (n.6415C>A) c.2608C>A n.1914C>A c.5566C>A (n.5566C>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53811407C= | CA1365489072 | CACNA1D | c.*1C= (n.*1C=) n.1876C= n.3486C= n.1922C= c.6415C= (n.6415C=) c.2608C= n.1914C= c.5566C= (n.5566C=) | |
3 | g.53811407C>T | CA2666142679 | CACNA1D | c.*1C>T (n.*1C>T) n.1876C>T n.3486C>T n.1922C>T c.6415C>T (n.6415C>T) c.2608C>T n.1914C>T c.5566C>T (n.5566C>T) | gnomAD v4 |
3 | g.53811411del | CA543530603 | CACNA1D | c.*5del (n.*5del) n.1880del n.3490del n.1926del c.6419del (n.6419del) c.2612del n.1918del c.5570del (n.5570del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53811408C>A | CA1365489074 | CACNA1D | c.*2C>A (n.*2C>A) n.1877C>A n.3487C>A n.1923C>A c.6416C>A (n.6416C>A) c.2609C>A n.1915C>A c.5567C>A (n.5567C>A) | dbSNP |
3 | g.53811408C= | CA1365489073 | CACNA1D | c.*2C= (n.*2C=) n.1877C= n.3487C= n.1923C= c.6416C= (n.6416C=) c.2609C= n.1915C= c.5567C= (n.5567C=) | |
3 | g.53811409C>A | CA2577826409 | CACNA1D | c.*3C>A (n.*3C>A) n.1878C>A n.3488C>A n.1924C>A c.6417C>A (n.6417C>A) c.2610C>A n.1916C>A c.5568C>A (n.5568C>A) | gnomAD v4 |
3 | g.53811410C>A | CA2666142680 | CACNA1D | c.*4C>A (n.*4C>A) n.1879C>A n.3489C>A n.1925C>A c.6418C>A (n.6418C>A) c.2611C>A n.1917C>A c.5569C>A (n.5569C>A) | gnomAD v4 |
3 | g.53811410C>G | CA2577826410 | CACNA1D | c.*4C>G (n.*4C>G) n.1879C>G n.3489C>G n.1925C>G c.6418C>G (n.6418C>G) c.2611C>G n.1917C>G c.5569C>G (n.5569C>G) | |
3 | g.53811411C>A | CA2666142681 | CACNA1D | c.*5C>A (n.*5C>A) n.1880C>A n.3490C>A n.1926C>A c.6419C>A (n.6419C>A) c.2612C>A n.1918C>A c.5570C>A (n.5570C>A) | gnomAD v4 |
3 | g.53811412A= | CA1365489075 | CACNA1D | c.*6A= (n.*6A=) n.1881A= n.3491A= n.1927A= c.6420A= (n.6420A=) c.2613A= n.1919A= c.5571A= (n.5571A=) | |
3 | g.53811412A>C | CA1365489076 | CACNA1D | c.*6A>C (n.*6A>C) n.1881A>C n.3491A>C n.1927A>C c.6420A>C (n.6420A>C) c.2613A>C n.1919A>C c.5571A>C (n.5571A>C) | dbSNP |
3 | g.53811412A>G | CA2666142682 | CACNA1D | c.*6A>G (n.*6A>G) n.1881A>G n.3491A>G n.1927A>G c.6420A>G (n.6420A>G) c.2613A>G n.1919A>G c.5571A>G (n.5571A>G) | gnomAD v4 |
3 | g.53811414C>A | CA2666142683 | CACNA1D | c.*8C>A (n.*8C>A) n.1883C>A n.3493C>A n.1929C>A c.6422C>A (n.6422C>A) c.2615C>A n.1921C>A c.5573C>A (n.5573C>A) | gnomAD v4 |
3 | g.53811414C= | CA1365489077 | CACNA1D | c.*8C= (n.*8C=) n.1883C= n.3493C= n.1929C= c.6422C= (n.6422C=) c.2615C= n.1921C= c.5573C= (n.5573C=) | |
3 | g.53811414C>G | CA2455455 | CACNA1D | c.*8C>G (n.*8C>G) n.1883C>G n.3493C>G n.1929C>G c.6422C>G (n.6422C>G) c.2615C>G n.1921C>G c.5573C>G (n.5573C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811414C>T | CA543530605 | CACNA1D | c.*8C>T (n.*8C>T) n.1883C>T n.3493C>T n.1929C>T c.6422C>T (n.6422C>T) c.2615C>T n.1921C>T c.5573C>T (n.5573C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811415G>A | CA2455456 | CACNA1D | c.*9G>A (n.*9G>A) n.1884G>A n.3494G>A n.1930G>A c.6423G>A (n.6423G>A) c.2616G>A n.1922G>A c.5574G>A (n.5574G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811415G= | CA1365489078 | CACNA1D | c.*9G= (n.*9G=) n.1884G= n.3494G= n.1930G= c.6423G= (n.6423G=) c.2616G= n.1922G= c.5574G= (n.5574G=) | |
3 | g.53811416A= | CA1365489079 | CACNA1D | c.*10A= (n.*10A=) n.1885A= n.3495A= n.1931A= c.6424A= (n.6424A=) c.2617A= n.1923A= c.5575A= (n.5575A=) | |
3 | g.53811416A>G | CA543530606 | CACNA1D | c.*10A>G (n.*10A>G) n.1885A>G n.3495A>G n.1931A>G c.6424A>G (n.6424A>G) c.2617A>G n.1923A>G c.5575A>G (n.5575A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53811417G>A | CA2666142684 | CACNA1D | c.*11G>A (n.*11G>A) n.1886G>A n.3496G>A n.1932G>A c.6425G>A (n.6425G>A) c.2618G>A n.1924G>A c.5576G>A (n.5576G>A) | gnomAD v4 |
3 | g.53811417G>T | CA2666142685 | CACNA1D | c.*11G>T (n.*11G>T) n.1886G>T n.3496G>T n.1932G>T c.6425G>T (n.6425G>T) c.2618G>T n.1924G>T c.5576G>T (n.5576G>T) | gnomAD v4 |
3 | g.53811418G>A | CA2455457 | CACNA1D | c.*12G>A (n.*12G>A) n.1887G>A n.3497G>A n.1933G>A c.6426G>A (n.6426G>A) c.2619G>A n.1925G>A c.5577G>A (n.5577G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811418G= | CA1365489080 | CACNA1D | c.*12G= (n.*12G=) n.1887G= n.3497G= n.1933G= c.6426G= (n.6426G=) c.2619G= n.1925G= c.5577G= (n.5577G=) | |
3 | g.53811418G>T | CA2666142686 | CACNA1D | c.*12G>T (n.*12G>T) n.1887G>T n.3497G>T n.1933G>T c.6426G>T (n.6426G>T) c.2619G>T n.1925G>T c.5577G>T (n.5577G>T) | gnomAD v4 |
3 | g.53811419G>A | CA543530607 | CACNA1D | c.*13G>A (n.*13G>A) n.1888G>A n.3498G>A n.1934G>A c.6427G>A (n.6427G>A) c.2620G>A n.1926G>A c.5578G>A (n.5578G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53811419G= | CA1365489081 | CACNA1D | c.*13G= (n.*13G=) n.1888G= n.3498G= n.1934G= c.6427G= (n.6427G=) c.2620G= n.1926G= c.5578G= (n.5578G=) | |
3 | g.53811419G>T | CA908253976 | CACNA1D | c.*13G>T (n.*13G>T) n.1888G>T n.3498G>T n.1934G>T c.6427G>T (n.6427G>T) c.2620G>T n.1926G>T c.5578G>T (n.5578G>T) | dbSNP gnomAD v4 |
3 | g.53811420G>A | CA2666142687 | CACNA1D | c.*14G>A (n.*14G>A) n.1889G>A n.3499G>A n.1935G>A c.6428G>A (n.6428G>A) c.2621G>A n.1927G>A c.5579G>A (n.5579G>A) | gnomAD v4 |
3 | g.53811420G>T | CA2666142688 | CACNA1D | c.*14G>T (n.*14G>T) n.1889G>T n.3499G>T n.1935G>T c.6428G>T (n.6428G>T) c.2621G>T n.1927G>T c.5579G>T (n.5579G>T) | gnomAD v4 |
3 | g.53811421C>A | CA2666142690 | CACNA1D | c.*15C>A (n.*15C>A) n.1890C>A n.3500C>A n.1936C>A c.6429C>A (n.6429C>A) c.2622C>A n.1928C>A c.5580C>A (n.5580C>A) | gnomAD v4 |
3 | g.53811421C>T | CA2666142689 | CACNA1D | c.*15C>T (n.*15C>T) n.1890C>T n.3500C>T n.1936C>T c.6429C>T (n.6429C>T) c.2622C>T n.1928C>T c.5580C>T (n.5580C>T) | gnomAD v4 |
3 | g.53811422_53811425dup | CA2577826411 | CACNA1D | c.*16_*19dup (n.*16_*19dup) n.1891_1894dup n.3501_3504dup n.1937_1940dup c.6430_6433dup (n.6430_6433dup) c.2623_2626dup n.1929_1932dup c.5581_5584dup (n.5581_5584dup) | |
3 | g.53811422A= | CA1365489082 | CACNA1D | c.*16A= (n.*16A=) n.1891A= n.3501A= n.1937A= c.6430A= (n.6430A=) c.2623A= n.1929A= c.5581A= (n.5581A=) | |
3 | g.53811422A>C | CA74870305 | CACNA1D | c.*16A>C (n.*16A>C) n.1891A>C n.3501A>C n.1937A>C c.6430A>C (n.6430A>C) c.2623A>C n.1929A>C c.5581A>C (n.5581A>C) | dbSNP |
3 | g.53811422A>G | CA2666142691 | CACNA1D | c.*16A>G (n.*16A>G) n.1891A>G n.3501A>G n.1937A>G c.6430A>G (n.6430A>G) c.2623A>G n.1929A>G c.5581A>G (n.5581A>G) | gnomAD v4 |
3 | g.53811424A>G | CA2666142692 | CACNA1D | c.*18A>G (n.*18A>G) n.1893A>G n.3503A>G n.1939A>G c.6432A>G (n.6432A>G) c.2625A>G n.1931A>G c.5583A>G (n.5583A>G) | gnomAD v4 |
3 | g.53811424A>T | CA2666142693 | CACNA1D | c.*18A>T (n.*18A>T) n.1893A>T n.3503A>T n.1939A>T c.6432A>T (n.6432A>T) c.2625A>T n.1931A>T c.5583A>T (n.5583A>T) | gnomAD v4 |
3 | g.53811425C>A | CA2666142694 | CACNA1D | c.*19C>A (n.*19C>A) n.1894C>A n.3504C>A n.1940C>A c.6433C>A (n.6433C>A) c.2626C>A n.1932C>A c.5584C>A (n.5584C>A) | gnomAD v4 |
3 | g.53811425C>T | CA2666142695 | CACNA1D | c.*19C>T (n.*19C>T) n.1894C>T n.3504C>T n.1940C>T c.6433C>T (n.6433C>T) c.2626C>T n.1932C>T c.5584C>T (n.5584C>T) | gnomAD v4 |
3 | g.53811426T>C | CA2455458 | CACNA1D | c.*20T>C (n.*20T>C) n.1895T>C n.3505T>C n.1941T>C c.6434T>C (n.6434T>C) c.2627T>C n.1933T>C c.5585T>C (n.5585T>C) | dbSNP ExAC gnomAD v2 |
3 | g.53811426T= | CA1365489083 | CACNA1D | c.*20T= (n.*20T=) n.1895T= n.3505T= n.1941T= c.6434T= (n.6434T=) c.2627T= n.1933T= c.5585T= (n.5585T=) | |
3 | g.53811427G>A | CA2666142696 | CACNA1D | c.*21G>A (n.*21G>A) n.1896G>A n.3506G>A n.1942G>A c.6435G>A (n.6435G>A) c.2628G>A n.1934G>A c.5586G>A (n.5586G>A) | gnomAD v4 |
3 | g.53811427G>C | CA543530608 | CACNA1D | c.*21G>C (n.*21G>C) n.1896G>C n.3506G>C n.1942G>C c.6435G>C (n.6435G>C) c.2628G>C n.1934G>C c.5586G>C (n.5586G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53811427G= | CA1365489084 | CACNA1D | c.*21G= (n.*21G=) n.1896G= n.3506G= n.1942G= c.6435G= (n.6435G=) c.2628G= n.1934G= c.5586G= (n.5586G=) | |
3 | g.53811427G>T | CA2666142697 | CACNA1D | c.*21G>T (n.*21G>T) n.1896G>T n.3506G>T n.1942G>T c.6435G>T (n.6435G>T) c.2628G>T n.1934G>T c.5586G>T (n.5586G>T) | gnomAD v4 |
3 | g.53811428G>A | CA2666142698 | CACNA1D | c.*22G>A (n.*22G>A) n.1897G>A n.3507G>A n.1943G>A c.6436G>A (n.6436G>A) c.2629G>A n.1935G>A c.5587G>A (n.5587G>A) | gnomAD v4 |
3 | g.53811428G>T | CA2666142699 | CACNA1D | c.*22G>T (n.*22G>T) n.1897G>T n.3507G>T n.1943G>T c.6436G>T (n.6436G>T) c.2629G>T n.1935G>T c.5587G>T (n.5587G>T) | gnomAD v4 |
3 | g.53811429C>T | CA2666142700 | CACNA1D | c.*23C>T (n.*23C>T) n.1898C>T n.3508C>T n.1944C>T c.6437C>T (n.6437C>T) c.2630C>T n.1936C>T c.5588C>T (n.5588C>T) | gnomAD v4 |
3 | g.53811430T>C | CA2455459 | CACNA1D | c.*24T>C (n.*24T>C) n.1899T>C n.3509T>C n.1945T>C c.6438T>C (n.6438T>C) c.2631T>C n.1937T>C c.5589T>C (n.5589T>C) | dbSNP ExAC gnomAD v2 |
3 | g.53811430T= | CA1365489085 | CACNA1D | c.*24T= (n.*24T=) n.1899T= n.3509T= n.1945T= c.6438T= (n.6438T=) c.2631T= n.1937T= c.5589T= (n.5589T=) | |
3 | g.53811431C>A | CA2666142701 | CACNA1D | c.*25C>A (n.*25C>A) n.1900C>A n.3510C>A n.1946C>A c.6439C>A (n.6439C>A) c.2632C>A n.1938C>A c.5590C>A (n.5590C>A) | gnomAD v4 |
3 | g.53811431C>G | CA2666142702 | CACNA1D | c.*25C>G (n.*25C>G) n.1900C>G n.3510C>G n.1946C>G c.6439C>G (n.6439C>G) c.2632C>G n.1938C>G c.5590C>G (n.5590C>G) | gnomAD v4 |
3 | g.53811432T>C | CA2577826412 | CACNA1D | c.*26T>C (n.*26T>C) n.1901T>C n.3511T>C n.1947T>C c.6440T>C (n.6440T>C) c.2633T>C n.1939T>C c.5591T>C (n.5591T>C) | gnomAD v4 |
3 | g.53811432T>G | CA2666142703 | CACNA1D | c.*26T>G (n.*26T>G) n.1901T>G n.3511T>G n.1947T>G c.6440T>G (n.6440T>G) c.2633T>G n.1939T>G c.5591T>G (n.5591T>G) | gnomAD v4 |