| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209788638G>A | CA252765 | IRF6 | c.1186C>T (p.Pro396Ser) c.*613C>T (n.*613C>T) c.*696C>T (n.*696C>T) c.901C>T (p.Pro301Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209788638G= | CA1141581363 | IRF6 | c.1186C= (p.Pro396=) c.*613C= (n.*613C=) c.*696C= (n.*696C=) c.901C= (p.Pro301=) | dbSNP |