| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844356A>C | CA229298 | PAH | c.1045T>G (p.Ser349Ala) c.1030T>G (p.Ser344Ala) n.804T>G n.707T>G c.149T>G n.560T>G c.988T>G (p.Ser330Ala) | ClinVar dbSNP |
| 12 | g.102844356A>G | CA251542 | PAH | c.1045T>C (p.Ser349Pro) c.1030T>C (p.Ser344Pro) n.804T>C n.707T>C c.149T>C n.560T>C c.988T>C (p.Ser330Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |