| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47478423dup | CA020506 | MSH2 | c.2362dup (p.Thr788AsnfsTer11) c.2164dup (p.Thr722AsnfsTer11) c.*662dup (n.*662dup) c.215dup c.*758dup (n.*758dup) c.*902dup (n.*902dup) c.*1128dup (n.*1128dup) c.*1334dup (n.*1334dup) c.2361dup (p.Leu788ThrfsTer?) n.2434dup n.2424dup | ClinVar dbSNP |
| 2 | g.47478423A= | CA2495874596 | MSH2 | c.2362A= (p.Thr788=) c.2164A= (p.Thr722=) c.*662A= (n.*662A=) c.215A= c.*758A= (n.*758A=) c.*902A= (n.*902A=) c.*1128A= (n.*1128A=) c.*1334A= (n.*1334A=) c.2361A= (p.Leu787=) n.2434A= n.2424A= | dbSNP dbSNP |