| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Val342Ile |
c.1024G>A |
6 |
342 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
G->A |
4  |
|
|
| p.Val655Ile |
c.1963G>A |
12 |
655 |
ATPase |
|
Small rearrangement |
Ts |
G->A |
1  |
|
|
| p.Val722Ile |
c.2164G>A |
13 |
722 |
ATPase |
|
Small rearrangement |
Ts |
G->A |
2  |
|
|