| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843686A>G | CA229363 | PAH | c.1159T>C (p.Tyr387His) c.1144T>C (p.Tyr382His) n.918T>C n.821T>C c.263T>C n.674T>C c.1102T>C (p.Tyr368His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843686A>C | CA16020952 | PAH | c.1159T>G (p.Tyr387Asp) c.1144T>G (p.Tyr382Asp) n.918T>G n.821T>G c.263T>G n.674T>G c.1102T>G (p.Tyr368Asp) | ClinVar dbSNP |
| 12 | g.102843686A= | CA2059446498 | PAH | c.1159T= (p.Tyr387=) c.1144T= (p.Tyr382=) n.918T= n.821T= c.263T= n.674T= c.1102T= (p.Tyr368=) | dbSNP |