| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844377C>T | CA229276 | PAH | c.1024G>A (p.Ala342Thr) c.1009G>A (p.Ala337Thr) n.783G>A n.686G>A c.128G>A n.539G>A c.967G>A (p.Ala323Thr) | ClinVar dbSNP |
| 12 | g.102844377C>G | CA229277 | PAH | c.1024G>C (p.Ala342Pro) c.1009G>C (p.Ala337Pro) n.783G>C n.686G>C c.128G>C n.539G>C c.967G>C (p.Ala323Pro) | ClinVar dbSNP |