| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843756del | CA229336 | PAH | c.1089del (p.Lys363AsnfsTer?) c.1074del (p.Lys358AsnfsTer?) n.848del n.751del c.193del n.604del c.1032del (p.Lys344AsnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843756C= | CA2059446786 | PAH | c.1089G= (p.Lys363=) c.1074G= (p.Lys358=) n.848G= n.751G= c.193G= n.604G= c.1032G= (p.Lys344=) | dbSNP dbSNP |