| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844355G>A | CA229302 | PAH | c.1046C>T (p.Ser349Leu) c.1031C>T (p.Ser344Leu) n.805C>T n.708C>T c.150C>T n.561C>T c.989C>T (p.Ser330Leu) | ClinVar dbSNP |
| 12 | g.102844355G>T | CA229300 | PAH | c.1046C>A (p.Ser349Ter) c.1031C>A (p.Ser344Ter) n.805C>A n.708C>A c.150C>A n.561C>A c.989C>A (p.Ser330Ter) | ClinVar dbSNP |