| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102855148G>A | CA229696 | PAH | c.694C>T (p.Gln232Ter) c.679C>T (p.Gln227Ter) n.790C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855148G>C | CA16020842 | PAH | c.694C>G (p.Gln232Glu) c.679C>G (p.Gln227Glu) n.790C>G | ClinVar dbSNP |
| 12 | g.102855148G= | CA2059449067 | PAH | c.694C= (p.Gln232=) c.679C= (p.Gln227=) n.790C= | dbSNP |