| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844345del | CA229312 | PAH | c.1056del (p.Glu353AsnfsTer?) c.1041del (p.Glu348AsnfsTer?) n.815del n.718del c.160del n.571del c.999del (p.Glu334AsnfsTer?) | ClinVar dbSNP |
| 12 | g.102844345A= | CA3191687975 | PAH | c.1056T= (p.Gly352=) c.1041T= (p.Gly347=) n.815T= n.718T= c.160T= n.571T= c.999T= (p.Gly333=) | dbSNP |