| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48251711C>A | CA16609224 | SLC12A1 | c.1883C>A (p.Ala628Asp) c.2021C>A (p.Ala674Asp) n.6006C>A c.1322C>A (p.Ala441Asp) n.6022C>A c.1979C>A (p.Ala660Asp) n.2195C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48251711C>G | CA392313602 | SLC12A1 | c.1883C>G (p.Ala628Gly) c.2021C>G (p.Ala674Gly) n.6006C>G c.1322C>G (p.Ala441Gly) n.6022C>G c.1979C>G (p.Ala660Gly) n.2195C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |