| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13230158G>A | CA119656 | CACNA1A | c.5452C>T (p.Arg1818Ter) c.5458C>T (p.Arg1820Ter) c.871C>T n.676C>T c.613C>T (p.Arg205Ter) c.5455C>T (p.Arg1819Ter) n.1441C>T c.495+1552C>T (n.495+1552C>T) c.5461C>T (p.Arg1821Ter) c.79C>T (p.Arg27Ter) c.5470C>T (p.Arg1824Ter) c.5314C>T (p.Arg1772Ter) c.646C>T n.845C>T c.856C>T (p.Arg286Ter) n.446C>T c.5656C>T (p.Arg1886Ter) c.1510C>T (p.Arg504Ter) c.913C>T (p.Arg305Ter) | ClinVar dbSNP |
| 19 | g.13230158G>T | CA305512747 | CACNA1A | c.5452C>A (p.Arg1818=) c.5458C>A (p.Arg1820=) c.871C>A n.676C>A c.613C>A (p.Arg205=) c.5455C>A (p.Arg1819=) n.1441C>A c.495+1552C>A (n.495+1552C>A) c.5461C>A (p.Arg1821=) c.79C>A (p.Arg27=) c.5470C>A (p.Arg1824=) c.5314C>A (p.Arg1772=) c.646C>A n.845C>A c.856C>A (p.Arg286=) n.446C>A c.5656C>A (p.Arg1886=) c.1510C>A (p.Arg504=) c.913C>A (p.Arg305=) | dbSNP gnomAD v3 |
| 19 | g.13230158G>C | CA9239730 | CACNA1A | c.5452C>G (p.Arg1818Gly) c.5458C>G (p.Arg1820Gly) c.871C>G n.676C>G c.613C>G (p.Arg205Gly) c.5455C>G (p.Arg1819Gly) n.1441C>G c.495+1552C>G (n.495+1552C>G) c.5461C>G (p.Arg1821Gly) c.79C>G (p.Arg27Gly) c.5470C>G (p.Arg1824Gly) c.5314C>G (p.Arg1772Gly) c.646C>G n.845C>G c.856C>G (p.Arg286Gly) n.446C>G c.5656C>G (p.Arg1886Gly) c.1510C>G (p.Arg504Gly) c.913C>G (p.Arg305Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13230158G= | CA2323793046 | CACNA1A | c.5452C= (p.Arg1818=) c.5458C= (p.Arg1820=) c.871C= n.676C= c.613C= (p.Arg205=) c.5455C= (p.Arg1819=) n.1441C= c.495+1552C= (n.495+1552C=) c.5461C= (p.Arg1821=) c.79C= (p.Arg27=) c.5470C= (p.Arg1824=) c.5314C= (p.Arg1772=) c.646C= n.845C= c.856C= (p.Arg286=) n.446C= c.5656C= (p.Arg1886=) c.1510C= (p.Arg504=) c.913C= (p.Arg305=) | dbSNP |