| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852882C>T | CA229755 | PAH | c.775G>A (p.Ala259Thr) c.760G>A (p.Ala254Thr) n.534G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852882C>G | CA386295510 | PAH | c.775G>C (p.Ala259Pro) c.760G>C (p.Ala254Pro) n.534G>C | dbSNP |
| 12 | g.102852882C= | CA2059446464 | PAH | c.775G= (p.Ala259=) c.760G= (p.Ala254=) n.534G= | dbSNP |