Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56885328G>T | CA119778 | SLC12A3 | c.1889G>T (p.Gly630Val) c.1886G>T (p.Gly629Val) | ClinVar dbSNP gnomAD v4 |
16 | g.56885328G>A | CA395991567 | SLC12A3 | c.1889G>A (p.Gly630Asp) c.1886G>A (p.Gly629Asp) | dbSNP gnomAD v4 |
16 | g.56885328G= | CA2224356674 | SLC12A3 | c.1889G= (p.Gly630=) c.1886G= (p.Gly629=) | dbSNP |