| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844426G>C | CA229885 | PAH | c.975C>G (p.Tyr325Ter) c.960C>G (p.Tyr320Ter) n.734C>G n.637C>G c.79C>G n.490C>G c.918C>G (p.Tyr306Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102844426G>A | CA481375794 | PAH | c.975C>T (p.Tyr325=) c.960C>T (p.Tyr320=) n.734C>T n.637C>T c.79C>T n.490C>T c.918C>T (p.Tyr306=) | dbSNP |