| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844409A>C | CA229895 | PAH | c.992T>G (p.Phe331Cys) c.977T>G (p.Phe326Cys) n.751T>G n.654T>G c.96T>G n.507T>G c.935T>G (p.Phe312Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844409A>G | CA16020915 | PAH | c.992T>C (p.Phe331Ser) c.977T>C (p.Phe326Ser) n.751T>C n.654T>C c.96T>C n.507T>C c.935T>C (p.Phe312Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |