| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Pro349Leu |
c.1046C>T |
6 |
349 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
C->T |
2  |
|
|
| p.Pro415Leu |
c.1244C>T |
7 |
415 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
C->T |
1  |
|
|
| p.Pro622Leu |
c.1865C>T |
12 |
622 |
ATPase |
|
Small rearrangement |
Ts |
C->T |
3  |
|
|
| p.Pro670Leu |
c.2009C>T |
13 |
670 |
ATP binding |
|
Small rearrangement |
Ts |
C->T |
2  |
|
|
| p.Pro696Leu |
c.2087C>T |
13 |
696 |
ATPase |
|
Small rearrangement |
Ts |
C->T |
3  |
|
|