| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844380T>A | CA229272 | PAH | c.1021A>T (p.Lys341Ter) c.1006A>T (p.Lys336Ter) n.780A>T n.683A>T c.125A>T n.536A>T c.964A>T (p.Lys322Ter) | ClinVar dbSNP |
| 12 | g.102844380T= | CA2059448342 | PAH | c.1021A= (p.Lys341=) c.1006A= (p.Lys336=) n.780A= n.683A= c.125A= n.536A= c.964A= (p.Lys322=) | dbSNP |