| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102840492C>T | CA229404 | PAH | c.1223G>A (p.Arg408Gln) c.1208G>A (p.Arg403Gln) n.885G>A c.327G>A n.738G>A c.1166G>A (p.Arg389Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840492C= | CA2059441935 | PAH | c.1223G= (p.Arg408=) c.1208G= (p.Arg403=) n.885G= c.327G= n.738G= c.1166G= (p.Arg389=) | dbSNP |
| 12 | g.102840492C>A | CA386493079 | PAH | c.1223G>T (p.Arg408Leu) c.1208G>T (p.Arg403Leu) n.885G>T c.327G>T n.738G>T c.1166G>T (p.Arg389Leu) | dbSNP COSMIC |
| 12 | g.102840492C>G | CA386493080 | PAH | c.1223G>C (p.Arg408Pro) c.1208G>C (p.Arg403Pro) n.885G>C c.327G>C n.738G>C c.1166G>C (p.Arg389Pro) | dbSNP |