| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43066353G>A | CA113878 | CBS | c.341C>T (p.Ala114Val) n.652C>T n.784C>T c.392C>T (p.Ala131Val) c.26C>T (p.Ala9Val) n.712C>T n.491C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 21 | g.43066353G>C | CA321097886 | CBS | c.341C>G (p.Ala114Gly) n.652C>G n.784C>G c.392C>G (p.Ala131Gly) c.26C>G (p.Ala9Gly) n.712C>G n.491C>G | dbSNP |
| 21 | g.43066353G= | CA2391104184 | CBS | c.341C= (p.Ala114=) n.652C= n.784C= c.392C= (p.Ala131=) c.26C= (p.Ala9=) n.712C= n.491C= | dbSNP |