| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102855160C>A | CA16020838 | PAH | c.682G>T (p.Glu228Ter) c.667G>T (p.Glu223Ter) n.778G>T | ClinVar dbSNP |
| 12 | g.102855160C>T | CA267669 | PAH | c.682G>A (p.Glu228Lys) c.667G>A (p.Glu223Lys) n.778G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102855160C= | CA2059449138 | PAH | c.682G= (p.Glu228=) c.667G= (p.Glu223=) n.778G= | dbSNP |