| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.34294083G>A | CA9821059 | AHCY | c.293C>T (p.Pro98Leu) n.456C>T n.340C>T c.209C>T (p.Pro70Leu) n.553C>T c.299C>T (p.Pro100Leu) c.-132C>T (n.-132C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34294083G= | CA2361139214 | AHCY | c.293C= (p.Pro98=) n.456C= n.340C= c.209C= (p.Pro70=) n.553C= c.299C= (p.Pro100=) c.-132C= (n.-132C=) | dbSNP |