| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102912840G>A | CA229393 | PAH | c.119C>T (p.Ser40Leu) c.104C>T (p.Ser35Leu) n.206C>T n.41C>T n.215C>T c.103C>T n.208C>T n.87C>T | ClinVar dbSNP |
| 12 | g.102912840G= | CA2059473438 | PAH | c.119C= (p.Ser40=) c.104C= (p.Ser35=) n.206C= n.41C= n.215C= c.103C= n.208C= n.87C= | dbSNP |