| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209788614C>G | CA1377157 | IRF6 | c.1210G>C (p.Glu404Gln) c.*637G>C (n.*637G>C) c.*720G>C (n.*720G>C) c.925G>C (p.Glu309Gln) | dbSNP ExAC gnomAD v4 |
| 1 | g.209788614C>T | CA277849 | IRF6 | c.1210G>A (p.Glu404Lys) c.*637G>A (n.*637G>A) c.*720G>A (n.*720G>A) c.925G>A (p.Glu309Lys) | ClinVar dbSNP |