| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56887932G>A | CA8069789 | SLC12A3 | c.2186G>A (p.Gly729Asp) c.2183G>A (p.Gly728Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56887932G>T | CA8069788 | SLC12A3 | c.2186G>T (p.Gly729Val) c.2183G>T (p.Gly728Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56887932G= | CA2224358065 | SLC12A3 | c.2186G= (p.Gly729=) c.2183G= (p.Gly728=) | dbSNP |
| 16 | g.56887932G>C | CA395994553 | SLC12A3 | c.2186G>C (p.Gly729Ala) c.2183G>C (p.Gly728Ala) | ClinVar dbSNP gnomAD v4 |