| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102894758del | CA16041561 | PAH | c.329del (p.Ser110TyrfsTer?) c.314del (p.Ser105TyrfsTer?) n.251del n.425del c.313del n.418del | ClinVar dbSNP |
| 12 | g.102894758G= | CA2059466585 | PAH | c.329C= (p.Ser110=) c.314C= (p.Ser105=) n.251C= n.425C= c.313C= n.418C= | dbSNP dbSNP |