| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asn331Asp |
c.991A>G |
6 |
331 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
A->G |
2  |
|
|
| p.Asn835Asp |
c.2503A>G |
15 |
835 |
ATPase |
|
Small rearrangement |
Ts |
A->G |
2  |
|
|