| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln97Glu |
c.289C>G |
2 |
97 |
Mismatch binding |
|
Small rearrangement |
Tv |
C->G |
1  |
|
|
| p.Gln264Glu |
c.790C>G |
4 |
264 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
C->G |
1  |
|
|
| p.Gln645Glu |
c.1933C>G |
12 |
645 |
ATPase |
|
Small rearrangement |
Tv |
C->G |
1  |
|
|
| p.Gln861Glu |
c.2581C>G |
15 |
861 |
Helix-turn-helix |
|
Small rearrangement |
Tv |
C->G |
1  |
|
|