| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56886402G>T | CA119772 | SLC12A3 | c.1964G>T (p.Arg655Leu) c.1961G>T (p.Arg654Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56886402G>A | CA119770 | SLC12A3 | c.1964G>A (p.Arg655His) c.1961G>A (p.Arg654His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56886402G= | CA2224357209 | SLC12A3 | c.1964G= (p.Arg655=) c.1961G= (p.Arg654=) | dbSNP |