| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu92Val |
c.274C>G |
2 |
92 |
Mismatch binding |
|
Small rearrangement |
Tv |
C->G |
1  |
|
|
| p.Leu128Val |
c.382C>G |
3 |
128 |
Connector |
|
Small rearrangement |
Tv |
C->G |
1  |
|
|
| p.Leu279Val |
c.835C>G |
5 |
279 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
C->G |
1  |
|
|
| p.Leu341Val |
c.1021C>G |
6 |
341 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
C->G |
1  |
|
|
| p.Leu387Val |
c.1159C>G |
7 |
387 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
C->G |
2  |
|
|