| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.34292467C>T | CA122803 | AHCY | c.336G>A (p.Trp112Ter) n.499G>A n.383G>A c.252G>A (p.Trp84Ter) c.342G>A (p.Trp114Ter) c.-43G>A (n.-43G>A) | ClinVar dbSNP gnomAD v4 |
| 20 | g.34292467C>A | CA408659417 | AHCY | c.336G>T (p.Trp112Cys) n.499G>T n.383G>T c.252G>T (p.Trp84Cys) c.342G>T (p.Trp114Cys) c.-43G>T (n.-43G>T) | dbSNP gnomAD v4 |
| 20 | g.34292467C= | CA2361138461 | AHCY | c.336G= (p.Trp112=) n.499G= n.383G= c.252G= (p.Trp84=) c.342G= (p.Trp114=) c.-43G= (n.-43G=) | dbSNP |