| 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 |
| 21 | g.43065481G>C | CA410601077 | CBS | c.572C>G (p.Thr191Arg) n.883C>G c.623C>G (p.Thr208Arg) c.257C>G (p.Thr86Arg) n.943C>G n.722C>G | dbSNP |
| 21 | g.43065481G= | CA2391103762 | CBS | c.572C= (p.Thr191=) n.883C= c.623C= (p.Thr208=) c.257C= (p.Thr86=) n.943C= n.722C= | dbSNP |