12 | g.102852923A>G | CA114372 | PAH | c.734T>C (p.Val245Ala) c.719T>C (p.Val240Ala) n.493T>C
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102852923A>T | CA229725 | PAH | c.734T>A (p.Val245Glu) c.719T>A (p.Val240Glu) n.493T>A
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |