| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6374444C>T | CA120273 | SCNN1A | c.340G>A (p.Val114Ile) c.517G>A (p.Val173Ile) n.421G>A c.403G>A (p.Val135Ile) n.82+909G>A n.476G>A c.409G>A (p.Val137Ile) n.344G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6374444C= | CA2014045513 | SCNN1A | c.340G= (p.Val114=) c.517G= (p.Val173=) n.421G= c.403G= (p.Val135=) n.82+909G= n.476G= c.409G= (p.Val137=) n.344G= | dbSNP |