| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209796477G>C | CA344583336 | IRF6 | c.250C>G (p.Arg84Gly) c.-36C>G (n.-36C>G) | ClinVar dbSNP |
| 1 | g.209796477G>A | CA252756 | IRF6 | c.250C>T (p.Arg84Cys) c.-36C>T (n.-36C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.209796477G= | CA1141581369 | IRF6 | c.250C= (p.Arg84=) c.-36C= (n.-36C=) | dbSNP |