| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47476502dup | CA020127 | MSH2 | c.2141dup (p.Gly715TrpfsTer2) c.1943dup (p.Gly649TrpfsTer2) c.*441dup (n.*441dup) c.*537dup (n.*537dup) c.*681dup (n.*681dup) c.*907dup (n.*907dup) c.*1113dup (n.*1113dup) n.2213dup n.2203dup | ClinVar dbSNP |
| 2 | g.47476502C= | CA2495873677 | MSH2 | c.2141C= (p.Ala714=) c.1943C= (p.Ala648=) c.*441C= (n.*441C=) c.*537C= (n.*537C=) c.*681C= (n.*681C=) c.*907C= (n.*907C=) c.*1113C= (n.*1113C=) n.2213C= n.2203C= | dbSNP dbSNP dbSNP |