| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209796375G>A | CA16603559 | IRF6 | c.352C>T (p.Gln118Ter) c.67C>T (p.Gln23Ter) | ClinVar dbSNP COSMIC |
| 1 | g.209796375G>C | CA344582820 | IRF6 | c.352C>G (p.Gln118Glu) c.67C>G (p.Gln23Glu) | dbSNP gnomAD v3 gnomAD v4 |