| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asp116GlyfsX57 |
c.347_350delATTG |
2 |
116 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 172 |
2  |
|
|
| p.Asp283IlefsX9 |
c.847delG |
5 |
283 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 291 |
10  |
|
|
| p.Asp446ValfsX21 |
c.1337_1338delAC |
8 |
446 |
MSH3/MSH6 interaction |
|
Small rearrangement |
Fr. |
Stop at 466 |
2  |
|
|
| p.Asp543IlefsX14 |
c.1627delG |
10 |
543 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 556 |
1  |
|
|
| p.Asp660GlufsX15 |
c.1980_1981delTA |
12 |
660 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 674 |
1  |
|
|