| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844399G>T | CA16020918 | PAH | c.1002C>A (p.Cys334Ter) c.987C>A (p.Cys329Ter) n.761C>A n.664C>A c.106C>A n.517C>A c.945C>A (p.Cys315Ter) | ClinVar dbSNP |
| 12 | g.102844399G>A | CA6748769 | PAH | c.1002C>T (p.Cys334=) c.987C>T (p.Cys329=) n.761C>T n.664C>T c.106C>T n.517C>T c.945C>T (p.Cys315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |