| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102866634T>G | CA229569 | PAH | c.471A>C (p.Arg157Ser) c.456A>C (p.Arg152Ser) n.567A>C n.530+10828A>C | ClinVar dbSNP |
| 12 | g.102866634T>C | CA242485488 | PAH | c.471A>G (p.Arg157=) c.456A>G (p.Arg152=) n.567A>G n.530+10828A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102866634T= | CA2059456995 | PAH | c.471A= (p.Arg157=) c.456A= (p.Arg152=) n.567A= n.530+10828A= | dbSNP |