| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102866607G>C | CA16020801 | PAH | c.498C>G (p.Tyr166Ter) c.483C>G (p.Tyr161Ter) n.594C>G n.530+10855C>G | ClinVar dbSNP |
| 12 | g.102866607G>T | CA229583 | PAH | c.498C>A (p.Tyr166Ter) c.483C>A (p.Tyr161Ter) n.594C>A n.530+10855C>A | ClinVar dbSNP |
| 12 | g.102866607G= | CA2059456981 | PAH | c.498C= (p.Tyr166=) c.483C= (p.Tyr161=) n.594C= n.530+10855C= | dbSNP |