| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser269IlefsX15 |
c.804dup |
5 |
269 |
EXO1 stabilization |
|
Small rearrangement |
|
Stop at 283 |
5  |
|
|
| p.Ser448LeufsX20 |
c.1341dup |
8 |
448 |
EXO1 stabilization |
|
Small rearrangement |
|
Stop at 467 |
1  |
|
|
| p.Ser703ValfsX14 |
c.2106dup |
13 |
703 |
ATPase |
|
Small rearrangement |
|
Stop at 716 |
1  |
|
|