| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu278Lys |
c.832G>A |
5 |
278 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
G->A |
1  |
|
|
| p.Glu530Lys |
c.1588G>A |
10 |
530 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2639 |
SO_-4757---G07125 | |
|
- |
|
71 |
|
| p.Glu561Lys |
c.1681G>A |
11 |
561 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
G->A |
2  |
|
|
| p.Glu749Lys |
c.2245G>A |
14 |
749 |
ATPase |
|
Small rearrangement |
Ts |
G->A |
30  |
|
|
| p.Glu809Lys |
c.2425G>A |
14 |
809 |
ATPase |
|
Small rearrangement |
Ts |
G->A |
1  |
|
|
| p.Glu886Lys |
c.2656G>A |
16 |
886 |
MSH3/MSH6 interaction |
|
Small rearrangement |
Ts |
G->A |
1  |
|
|