| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844365C>G | CA229294 | PAH | c.1036G>C (p.Gly346Arg) c.1021G>C (p.Gly341Arg) n.795G>C n.698G>C c.140G>C n.551G>C c.979G>C (p.Gly327Arg) | ClinVar dbSNP |
| 12 | g.102844365C>T | CA229292 | PAH | c.1036G>A (p.Gly346Arg) c.1021G>A (p.Gly341Arg) n.795G>A n.698G>A c.140G>A n.551G>A c.979G>A (p.Gly327Arg) | ClinVar dbSNP |
| 12 | g.102844365C= | CA2059448169 | PAH | c.1036G= (p.Gly346=) c.1021G= (p.Gly341=) n.795G= n.698G= c.140G= n.551G= c.979G= (p.Gly327=) | dbSNP |