| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209790735C>T | CA1377242 | IRF6 | c.820G>A (p.Val274Ile) c.*247G>A (n.*247G>A) c.*330G>A (n.*330G>A) c.535G>A (p.Val179Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209790735C= | CA1139923113 | IRF6 | c.820G= (p.Val274=) c.*247G= (n.*247G=) c.*330G= (n.*330G=) c.535G= (p.Val179=) | dbSNP |