| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56885364G>A | CA8069652 | SLC12A3 | c.1925G>A (p.Arg642His) c.1922G>A (p.Arg641His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885364G>C | CA395991742 | SLC12A3 | c.1925G>C (p.Arg642Pro) c.1922G>C (p.Arg641Pro) | dbSNP gnomAD v4 |
| 16 | g.56885364G= | CA2224356694 | SLC12A3 | c.1925G= (p.Arg642=) c.1922G= (p.Arg641=) | dbSNP |
| 16 | g.56885364G>T | CA395991743 | SLC12A3 | c.1925G>T (p.Arg642Leu) c.1922G>T (p.Arg641Leu) | dbSNP gnomAD v4 |