| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102840444A>T | CA16020988 | PAH | c.1271T>A (p.Leu424Ter) c.1256T>A (p.Leu419Ter) n.933T>A c.375T>A n.786T>A c.1214T>A (p.Leu405Ter) | ClinVar dbSNP |
| 12 | g.102840444A>G | CA229424 | PAH | c.1271T>C (p.Leu424Ser) c.1256T>C (p.Leu419Ser) n.933T>C c.375T>C n.786T>C c.1214T>C (p.Leu405Ser) | ClinVar dbSNP |