| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2550020G>A | CA264819 | CACNA1C | c.887G>A (n.887G>A) c.1543G>A (p.Gly515Arg) c.1468G>A (p.Gly490Arg) c.355G>A (p.Gly119Arg) c.1558G>A (p.Gly520Arg) c.1459G>A (p.Gly487Arg) c.1633G>A (p.Gly545Arg) c.*75G>A (n.*75G>A) c.*1088G>A (n.*1088G>A) n.355G>A c.991G>A (p.Gly331Arg) c.508G>A (p.Gly170Arg) c.73G>A (p.Gly25Arg) c.1711G>A (p.Gly571Arg) c.1636G>A (p.Gly546Arg) c.1627G>A (p.Gly543Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2550020G= | CA2838007967 | CACNA1C | c.887G= (n.887G=) c.1543G= (p.Gly515=) c.1468G= (p.Gly490=) c.355G= (p.Gly119=) c.1558G= (p.Gly520=) c.1459G= (p.Gly487=) c.1633G= (p.Gly545=) c.*75G= (n.*75G=) c.*1088G= (n.*1088G=) n.355G= c.991G= (p.Gly331=) c.508G= (p.Gly170=) c.73G= (p.Gly25=) c.1711G= (p.Gly571=) c.1636G= (p.Gly546=) c.1627G= (p.Gly543=) | dbSNP |