| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56884142C>A | CA8069597 | SLC12A3 | c.1763C>A (p.Ala588Glu) c.1760C>A (p.Ala587Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884142C>T | CA119774 | SLC12A3 | c.1763C>T (p.Ala588Val) c.1760C>T (p.Ala587Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56884142C= | CA2224356201 | SLC12A3 | c.1763C= (p.Ala588=) c.1760C= (p.Ala587=) | dbSNP |