| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys113Lys |
c.339G>A |
2 |
113 |
Mismatch binding |
|
Small rearrangement |
Ts |
G->A |
12  |
|
|
| p.Lys579Lys |
c.1737A>G |
11 |
579 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
A->G |
6  |
|
|