12 | g.102852819C>T | CA251525 | PAH | c.838G>A (p.Glu280Lys) c.823G>A (p.Glu275Lys) n.597G>A
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.102852819C>G | CA229805 | PAH | c.838G>C (p.Glu280Gln) c.823G>C (p.Glu275Gln) n.597G>C
| ClinVar dbSNP gnomAD v2 gnomAD v4 |