| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu360X |
c.1079T>A |
7 |
360 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
T->A |
1  |
|
|
| p.Leu488X |
c.1463T>A |
9 |
488 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
T->A |
1  |
|
|
| p.Leu634X |
c.1901T>G |
12 |
634 |
ATPase |
|
Small rearrangement |
Tv |
T->G |
2  |
|
|
| p.Leu744X |
c.2231T>G |
14 |
744 |
ATPase |
|
Small rearrangement |
Tv |
T->G |
4  |
|
|