| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843679del | CA229368 | PAH | c.1166del (p.Ala389GlufsTer11) c.1151del (p.Ala384GlufsTer11) n.925del n.828del c.270del n.681del c.1109del (p.Ala370GlufsTer11) | ClinVar dbSNP |
| 12 | g.102843679G= | CA2059446447 | PAH | c.1166C= (p.Ala389=) c.1151C= (p.Ala384=) n.925C= n.828C= c.270C= n.681C= c.1109C= (p.Ala370=) | dbSNP dbSNP |