Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56885363C>T | CA8069651 | SLC12A3 | c.1924C>T (p.Arg642Cys) c.1921C>T (p.Arg641Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56885363C>G | CA8069650 | SLC12A3 | c.1924C>G (p.Arg642Gly) c.1921C>G (p.Arg641Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |