| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43066300G>A | CA320193 | CBS | c.394C>T (p.Arg132Cys) n.705C>T n.837C>T c.445C>T (p.Arg149Cys) c.79C>T (p.Arg27Cys) n.765C>T n.544C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43066300G>T | CA10587954 | CBS | c.394C>A (p.Arg132Ser) n.705C>A n.837C>A c.445C>A (p.Arg149Ser) c.79C>A (p.Arg27Ser) n.765C>A n.544C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |