| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209796476C>G | CA344583331 | IRF6 | c.251G>C (p.Arg84Pro) c.-35G>C (n.-35G>C) | ClinVar dbSNP |
| 1 | g.209796476C>T | CA252757 | IRF6 | c.251G>A (p.Arg84His) c.-35G>A (n.-35G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.209796476C>A | CA259876 | IRF6 | c.251G>T (p.Arg84Leu) c.-35G>T (n.-35G>T) | ClinVar dbSNP |