| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844395G>A | CA229264 | PAH | c.1006C>T (p.Gln336Ter) c.991C>T (p.Gln331Ter) n.765C>T n.668C>T c.110C>T n.521C>T c.949C>T (p.Gln317Ter) | ClinVar dbSNP |
| 12 | g.102844395G>C | CA6748768 | PAH | c.1006C>G (p.Gln336Glu) c.991C>G (p.Gln331Glu) n.765C>G n.668C>G c.110C>G n.521C>G c.949C>G (p.Gln317Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |