| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209795339C>A | CA1377324 | IRF6 | c.459G>T (p.Ser153=) c.174G>T (p.Ser58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209795339C>T | CA1377325 | IRF6 | c.459G>A (p.Ser153=) c.174G>A (p.Ser58=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209795339C= | CA1139908281 | IRF6 | c.459G= (p.Ser153=) c.174G= (p.Ser58=) | dbSNP |