| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys59X |
c.175A>T |
1 |
59 |
Mismatch binding |
|
Small rearrangement |
Tv |
A->T |
1  |
|
|
| p.Lys65X |
c.193A>T |
1 |
65 |
Mismatch binding |
|
Small rearrangement |
Tv |
A->T |
1  |
|
|
| p.Lys490X |
c.1468A>T |
9 |
490 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
A->T |
13  |
|
|
| p.Lys567X |
c.1699A>T |
11 |
567 |
Lever |
|
Small rearrangement |
Tv |
A->T |
9  |
|
|
| p.Lys918X |
c.2752A>T |
16 |
918 |
MSH3/MSH6 interaction |
|
Small rearrangement |
Tv |
A->T |
1  |
|
|