| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102855316G>A | CA275338 | PAH | c.526C>T (p.Arg176Ter) c.511C>T (p.Arg171Ter) n.622C>T n.547C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855316G>T | CA481578629 | PAH | c.526C>A (p.Arg176=) c.511C>A (p.Arg171=) n.622C>A n.547C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855316G>C | CA386297012 | PAH | c.526C>G (p.Arg176Gly) c.511C>G (p.Arg171Gly) n.622C>G n.547C>G | dbSNP |
| 12 | g.102855316G= | CA2059449829 | PAH | c.526C= (p.Arg176=) c.511C= (p.Arg171=) n.622C= n.547C= | dbSNP |