| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102866633G>A | CA229570 | PAH | c.472C>T (p.Arg158Trp) c.457C>T (p.Arg153Trp) n.568C>T n.530+10829C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866633G= | CA2059456994 | PAH | c.472C= (p.Arg158=) c.457C= (p.Arg153=) n.568C= n.530+10829C= | dbSNP |
| 12 | g.102866633G>C | CA386299607 | PAH | c.472C>G (p.Arg158Gly) c.457C>G (p.Arg153Gly) n.568C>G n.530+10829C>G | ClinVar dbSNP |