| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102866645A>G | CA229557 | PAH | c.460T>C (p.Tyr154His) c.445T>C (p.Tyr149His) n.556T>C n.530+10817T>C | ClinVar dbSNP |
| 12 | g.102866645A>T | CA229556 | PAH | c.460T>A (p.Tyr154Asn) c.445T>A (p.Tyr149Asn) n.556T>A n.530+10817T>A | ClinVar dbSNP |
| 12 | g.102866645A= | CA2059457006 | PAH | c.460T= (p.Tyr154=) c.445T= (p.Tyr149=) n.556T= n.530+10817T= | dbSNP |