Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.53730470C>G | CA144866 | CACNA1D | c.2310C>G (p.Ile770Met) c.2250C>G (p.Ile750Met) c.1550C>G c.2322C>G (p.Ile774Met) c.2283C>G (p.Ile761Met) c.1329C>G (p.Ile443Met) c.2421C>G (p.Ile807Met) c.2361C>G (p.Ile787Met) c.1884C>G (p.Ile628Met) c.1509C>G (p.Ile503Met) | ClinVar dbSNP COSMIC COSMIC |
3 | g.53730470C>A | CA2454184 | CACNA1D | c.2310C>A (p.Ile770=) c.2250C>A (p.Ile750=) c.1550C>A c.2322C>A (p.Ile774=) c.2283C>A (p.Ile761=) c.1329C>A (p.Ile443=) c.2421C>A (p.Ile807=) c.2361C>A (p.Ile787=) c.1884C>A (p.Ile628=) c.1509C>A (p.Ile503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53730470C>T | CA2454185 | CACNA1D | c.2310C>T (p.Ile770=) c.2250C>T (p.Ile750=) c.1550C>T c.2322C>T (p.Ile774=) c.2283C>T (p.Ile761=) c.1329C>T (p.Ile443=) c.2421C>T (p.Ile807=) c.2361C>T (p.Ile787=) c.1884C>T (p.Ile628=) c.1509C>T (p.Ile503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |