| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser325Phe |
c.974C>T |
6 |
325 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
C->T |
6  |
|
|
| p.Ser723Phe |
c.2168C>T |
13 |
723 |
ATPase |
|
Small rearrangement |
Ts |
C->T |
1  |
|
|