| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47798891dup | CA16042059 | FBXO11,MSH6 | c.611dup (p.Met204IlefsTer9) c.908dup (p.Met303IlefsTer9) n.992dup c.914dup (p.Met305IlefsTer9) c.627+2828dup (n.627+2828dup) c.65dup (p.Met22IlefsTer9) c.518dup (p.Met173IlefsTer9) c.169+9304dup (n.169+9304dup) c.*124+9103dup (n.*124+9103dup) c.*255dup (n.*255dup) c.*396dup (n.*396dup) c.2dup (p.Met1IlefsTer9) c.905dup (p.Met302IlefsTer9) c.-2189dup (n.-2189dup) c.725dup (p.Met242IlefsTer9) | ClinVar dbSNP |
| 2 | g.47798891T= | CA2496048253 | FBXO11,MSH6 | c.611T= (p.Met204=) c.908T= (p.Met303=) n.992T= c.914T= (p.Met305=) c.627+2828T= (n.627+2828T=) c.65T= (p.Met22=) c.518T= (p.Met173=) c.169+9304A= (n.169+9304A=) c.*124+9103A= (n.*124+9103A=) c.*255T= (n.*255T=) c.*396T= (n.*396T=) c.2T= (p.Met1=) c.905T= (p.Met302=) c.-2189T= (n.-2189T=) c.725T= (p.Met242=) | dbSNP dbSNP |