| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102840474T>C | CA114362 | PAH | c.1241A>G (p.Tyr414Cys) c.1226A>G (p.Tyr409Cys) n.903A>G c.345A>G n.756A>G c.1184A>G (p.Tyr395Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840474T= | CA2059441810 | PAH | c.1241A= (p.Tyr414=) c.1226A= (p.Tyr409=) n.903A= c.345A= n.756A= c.1184A= (p.Tyr395=) | dbSNP |
| 12 | g.102840474T>A | CA386493055 | PAH | c.1241A>T (p.Tyr414Phe) c.1226A>T (p.Tyr409Phe) n.903A>T c.345A>T n.756A>T c.1184A>T (p.Tyr395Phe) | dbSNP |