| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56885363C>T | CA8069651 | SLC12A3 | c.1924C>T (p.Arg642Cys) c.1921C>T (p.Arg641Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885363C>G | CA8069650 | SLC12A3 | c.1924C>G (p.Arg642Gly) c.1921C>G (p.Arg641Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885363C= | CA2224356693 | SLC12A3 | c.1924C= (p.Arg642=) c.1921C= (p.Arg641=) | dbSNP |
| 16 | g.56885363C>A | CA395991741 | SLC12A3 | c.1924C>A (p.Arg642Ser) c.1921C>A (p.Arg641Ser) | dbSNP gnomAD v4 |