| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209788625C>T | CA267607 | IRF6 | c.1199G>A (p.Arg400Gln) c.*626G>A (n.*626G>A) c.*709G>A (n.*709G>A) c.914G>A (p.Arg305Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.209788625C>A | CA1377174 | IRF6 | c.1199G>T (p.Arg400Leu) c.*626G>T (n.*626G>T) c.*709G>T (n.*709G>T) c.914G>T (p.Arg305Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788625C>G | CA1377173 | IRF6 | c.1199G>C (p.Arg400Pro) c.*626G>C (n.*626G>C) c.*709G>C (n.*709G>C) c.914G>C (p.Arg305Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |