| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102851703A>G | CA16020887 | PAH | c.896T>C (p.Phe299Ser) c.881T>C (p.Phe294Ser) n.655T>C n.558T>C c.57T>C | ClinVar dbSNP |
| 12 | g.102851703A>C | CA251541 | PAH | c.896T>G (p.Phe299Cys) c.881T>G (p.Phe294Cys) n.655T>G n.558T>G c.57T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |