| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43066354C>T | CA321097898 | CBS | c.340G>A (p.Ala114Thr) n.651G>A n.783G>A c.391G>A (p.Ala131Thr) c.25G>A (p.Ala9Thr) n.711G>A n.490G>A | ClinVar dbSNP gnomAD v4 |
| 21 | g.43066354C>A | CA321097892 | CBS | c.340G>T (p.Ala114Ser) n.651G>T n.783G>T c.391G>T (p.Ala131Ser) c.25G>T (p.Ala9Ser) n.711G>T n.490G>T | ClinVar dbSNP gnomAD v4 |