| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47429887_47429888insTT | CA2499216029 | MSH2 | c.1222_1223insTT (p.Tyr408PhefsTer5) c.1024_1025insTT (p.Tyr342PhefsTer5) c.1221_1222insTT (p.Ile408LeufsTer9) c.*194_*195insTT (n.*194_*195insTT) n.1294_1295insTT n.1284_1285insTT | ClinVar dbSNP |
| 2 | g.47429887dup | CA017555 | MSH2 | c.1222dup (p.Tyr408LeufsTer9) c.1024dup (p.Tyr342LeufsTer9) c.1221dup (p.Ile408TyrfsTer?) c.*194dup (n.*194dup) n.1294dup n.1284dup | ClinVar dbSNP |