| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56902407C>T | CA8070053 | SLC12A3 | c.2755C>T (p.Arg919Cys) c.2752C>T (p.Arg918Cys) c.2782C>T (p.Arg928Cys) c.2779C>T (p.Arg927Cys) n.186C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56902407C>A | CA396001171 | SLC12A3 | c.2755C>A (p.Arg919Ser) c.2752C>A (p.Arg918Ser) c.2782C>A (p.Arg928Ser) c.2779C>A (p.Arg927Ser) n.186C>A | dbSNP gnomAD v4 |
| 16 | g.56902407C= | CA2224364806 | SLC12A3 | c.2755C= (p.Arg919=) c.2752C= (p.Arg918=) c.2782C= (p.Arg928=) c.2779C= (p.Arg927=) n.186C= | dbSNP |