| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852818T>C | CA229808 | PAH | c.839A>G (p.Glu280Gly) c.824A>G (p.Glu275Gly) n.598A>G | ClinVar dbSNP |
| 12 | g.102852818T= | CA2059446054 | PAH | c.839A= (p.Glu280=) c.824A= (p.Glu275=) n.598A= | dbSNP |
| 12 | g.102852818T>G | CA16020696 | PAH | c.839A>C (p.Glu280Ala) c.824A>C (p.Glu275Ala) n.598A>C | ClinVar dbSNP |