| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56885358A>G | CA281505366 | SLC12A3 | c.1919A>G (p.Asn640Ser) c.1916A>G (p.Asn639Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885358A= | CA2224356688 | SLC12A3 | c.1919A= (p.Asn640=) c.1916A= (p.Asn639=) | dbSNP |