| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843676T>C | CA114367 | PAH | c.1169A>G (p.Glu390Gly) c.1154A>G (p.Glu385Gly) n.928A>G n.831A>G c.273A>G n.684A>G c.1112A>G (p.Glu371Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843676T= | CA2059446435 | PAH | c.1169A= (p.Glu390=) c.1154A= (p.Glu385=) n.928A= n.831A= c.273A= n.684A= c.1112A= (p.Glu371=) | dbSNP |