| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43065481G>T | CA410601079 | CBS | c.572C>A (p.Thr191Lys) n.883C>A c.623C>A (p.Thr208Lys) c.257C>A (p.Thr86Lys) n.943C>A n.722C>A | ClinVar dbSNP |
| 21 | g.43065481G>A | CA113904 | CBS | c.572C>T (p.Thr191Met) n.883C>T c.623C>T (p.Thr208Met) c.257C>T (p.Thr86Met) n.943C>T n.722C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |