| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102866601G>T | CA267656 | PAH | c.504C>A (p.Tyr168Ter) c.489C>A (p.Tyr163Ter) n.600C>A n.530+10861C>A | ClinVar dbSNP |
| 12 | g.102866601G>A | CA481332086 | PAH | c.504C>T (p.Tyr168=) c.489C>T (p.Tyr163=) n.600C>T n.530+10861C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866601G= | CA2059456974 | PAH | c.504C= (p.Tyr168=) c.489C= (p.Tyr163=) n.600C= n.530+10861C= | dbSNP |