| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843761G>A | CA6748745 | PAH | c.1084C>T (p.Pro362Ser) c.1069C>T (p.Pro357Ser) n.843C>T n.746C>T c.188C>T n.599C>T c.1027C>T (p.Pro343Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.102843761G>T | CA229332 | PAH | c.1084C>A (p.Pro362Thr) c.1069C>A (p.Pro357Thr) n.843C>A n.746C>A c.188C>A n.599C>A c.1027C>A (p.Pro343Thr) | ClinVar dbSNP |