| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843774G>T | CA16020933 | PAH | c.1071C>A (p.Cys357Ter) c.1056C>A (p.Cys352Ter) n.830C>A n.733C>A c.175C>A n.586C>A c.1014C>A (p.Cys338Ter) | ClinVar dbSNP |
| 12 | g.102843774G>A | CA6748748 | PAH | c.1071C>T (p.Cys357=) c.1056C>T (p.Cys352=) n.830C>T n.733C>T c.175C>T n.586C>T c.1014C>T (p.Cys338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |