| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56879593G>A | CA8069451 | SLC12A3 | c.1387G>A (p.Gly463Arg) c.1384G>A (p.Gly462Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879593G= | CA2224353963 | SLC12A3 | c.1387G= (p.Gly463=) c.1384G= (p.Gly462=) | dbSNP |
| 16 | g.56879593G>C | CA395987538 | SLC12A3 | c.1387G>C (p.Gly463Arg) c.1384G>C (p.Gly462Arg) | dbSNP gnomAD v4 |