| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852876G>A | CA229757 | PAH | c.781C>T (p.Arg261Ter) c.766C>T (p.Arg256Ter) n.540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852876G>C | CA269921 | PAH | c.781C>G (p.Arg261Gly) c.766C>G (p.Arg256Gly) n.540C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852876G= | CA2059446456 | PAH | c.781C= (p.Arg261=) c.766C= (p.Arg256=) n.540C= | dbSNP |