| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48251703G>A | CA119890 | SLC12A1 | c.1875G>A (p.Trp625Ter) c.2013G>A (p.Trp671Ter) n.5998G>A c.1314G>A (p.Trp438Ter) n.6014G>A c.1971G>A (p.Trp657Ter) n.2187G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48251703G>T | CA392313583 | SLC12A1 | c.1875G>T (p.Trp625Cys) c.2013G>T (p.Trp671Cys) n.5998G>T c.1314G>T (p.Trp438Cys) n.6014G>T c.1971G>T (p.Trp657Cys) n.2187G>T | dbSNP gnomAD v4 |