| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852887C>A | CA229753 | PAH | c.770G>T (p.Gly257Val) c.755G>T (p.Gly252Val) n.529G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852887C>T | CA229751 | PAH | c.770G>A (p.Gly257Asp) c.755G>A (p.Gly252Asp) n.529G>A | ClinVar dbSNP |
| 12 | g.102852887C= | CA2059446486 | PAH | c.770G= (p.Gly257=) c.755G= (p.Gly252=) n.529G= | dbSNP |