| 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 |
