| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43066279C>T | CA113883 | CBS | c.415G>A (p.Gly139Arg) n.726G>A n.858G>A c.466G>A (p.Gly156Arg) c.100G>A (p.Gly34Arg) n.786G>A n.565G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43066279C= | CA2391104140 | CBS | c.415G= (p.Gly139=) n.726G= n.858G= c.466G= (p.Gly156=) c.100G= (p.Gly34=) n.786G= n.565G= | dbSNP |