| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56879153T>G | CA395985927 | SLC12A3 | c.1261T>G (p.Cys421Gly) c.1258T>G (p.Cys420Gly) | ClinVar dbSNP |
| 16 | g.56879153T>C | CA119766 | SLC12A3 | c.1261T>C (p.Cys421Arg) c.1258T>C (p.Cys420Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879153T= | CA2224353762 | SLC12A3 | c.1261T= (p.Cys421=) c.1258T= (p.Cys420=) | dbSNP |