| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 12 | g.102852923A= | CA2059446652 | PAH | c.734T= (p.Val245=) c.719T= (p.Val240=) n.493T= | dbSNP |