| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209801349A>G | CA259875 | IRF6 | c.65T>C (p.Leu22Pro) c.-112+4598T>C (n.-112+4598T>C) | ClinVar dbSNP |
| 1 | g.209801349A= | CA1144229119 | IRF6 | c.65T= (p.Leu22=) c.-112+4598T= (n.-112+4598T=) | dbSNP |
| 1 | g.209801349A>C | CA344585900 | IRF6 | c.65T>G (p.Leu22Arg) c.-112+4598T>G (n.-112+4598T>G) | dbSNP gnomAD v4 |