| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102851698G>T | CA16606056 | PAH | c.901C>A (p.Gln301Lys) c.886C>A (p.Gln296Lys) n.660C>A n.563C>A c.62C>A | ClinVar dbSNP |
| 12 | g.102851698G>A | CA16020888 | PAH | c.901C>T (p.Gln301Ter) c.886C>T (p.Gln296Ter) n.660C>T n.563C>T c.62C>T | ClinVar dbSNP |