| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43066260G>A | CA113876 | CBS | c.434C>T (p.Pro145Leu) n.745C>T n.877C>T c.485C>T (p.Pro162Leu) c.119C>T (p.Pro40Leu) n.805C>T n.584C>T | ClinVar dbSNP gnomAD v4 |
| 21 | g.43066260G= | CA2391104134 | CBS | c.434C= (p.Pro145=) n.745C= n.877C= c.485C= (p.Pro162=) c.119C= (p.Pro40=) n.805C= n.584C= | dbSNP |
| 21 | g.43066260G>C | CA410601659 | CBS | c.434C>G (p.Pro145Arg) n.745C>G n.877C>G c.485C>G (p.Pro162Arg) c.119C>G (p.Pro40Arg) n.805C>G n.584C>G | ClinVar dbSNP |