| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43066294C>G | CA321097659 | CBS | c.400G>C (p.Gly134Arg) n.711G>C n.843G>C c.451G>C (p.Gly151Arg) c.85G>C (p.Gly29Arg) n.771G>C n.550G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43066294C>T | CA320927 | CBS | c.400G>A (p.Gly134Arg) n.711G>A n.843G>A c.451G>A (p.Gly151Arg) c.85G>A (p.Gly29Arg) n.771G>A n.550G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43066294C= | CA2391104150 | CBS | c.400G= (p.Gly134=) n.711G= n.843G= c.451G= (p.Gly151=) c.85G= (p.Gly29=) n.771G= n.550G= | dbSNP |