| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln10Gln |
c.30G>A |
1 |
10 |
Mismatch binding |
|
Small rearrangement |
Ts |
G->A |
1  |
|
|
| p.Gln377Gln |
c.1131A>G |
7 |
377 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
A->G |
1  |
|
|
| p.Gln718Gln |
c.2154A>G |
13 |
718 |
ATPase |
|
Small rearrangement |
Ts |
A->G |
1  |
|
|