Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102851709C>A | CA16020886 | PAH | c.890G>T (p.Arg297Leu) c.875G>T (p.Arg292Leu) n.649G>T n.552G>T c.51G>T | ClinVar dbSNP gnomAD v4 |
12 | g.102851709C>T | CA220590 | PAH | c.890G>A (p.Arg297His) c.875G>A (p.Arg292His) n.649G>A n.552G>A c.51G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |