| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102851743C>A | CA386294476 | PAH | c.856G>T (p.Glu286Ter) c.841G>T (p.Glu281Ter) n.615G>T n.518G>T c.17G>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102851743C>T | CA229826 | PAH | c.856G>A (p.Glu286Lys) c.841G>A (p.Glu281Lys) n.615G>A n.518G>A c.17G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |