| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102855307A>T | CA229613 | PAH | c.535T>A (p.Tyr179Asn) c.520T>A (p.Tyr174Asn) n.631T>A n.556T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855307A>G | CA229615 | PAH | c.535T>C (p.Tyr179His) c.520T>C (p.Tyr174His) n.631T>C n.556T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855307A= | CA2059449787 | PAH | c.535T= (p.Tyr179=) c.520T= (p.Tyr174=) n.631T= n.556T= | dbSNP |