| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102855281C>G | CA229626 | PAH | c.561G>C (p.Trp187Cys) c.546G>C (p.Trp182Cys) n.657G>C n.582G>C | ClinVar dbSNP |
| 12 | g.102855281C>T | CA229624 | PAH | c.561G>A (p.Trp187Ter) c.546G>A (p.Trp182Ter) n.657G>A n.582G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855281C= | CA2059449667 | PAH | c.561G= (p.Trp187=) c.546G= (p.Trp182=) n.657G= n.582G= | dbSNP |