| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln97HisfsX77 |
c.291delG |
2 |
97 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 173 |
1  |
|
|
| p.Gln130ValfsX2 |
c.388_389delCA |
3 |
130 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 131 |
3  |
|
|
| p.Gln130HisfsX2 |
c.390_391delGT |
3 |
130 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 131 |
16  |
|
|
| p.Gln160GlyfsX17 |
c.478_479delCA |
3 |
160 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 176 |
1  |
|
|
| p.Val265LeufsX9 |
c.792delG |
4 |
264 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 273 |
1  |
|
|
| p.Gln861LysfsX31 |
c.2581delC |
15 |
861 |
Helix-turn-helix |
|
Small rearrangement |
Fr. |
Stop at 891 |
1  |
|
|