| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asn127Ser |
c.380A>G |
3 |
127 |
Connector |
|
Small rearrangement |
Ts |
A->G |
23  |
|
|
| p.Asn186Ser |
c.557A>G |
3 |
186 |
Connector |
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2246 |
7_503212139E100621 | |
|
- |
|
7 |
|
| p.Asn583Ser |
c.1748A>G |
11 |
583 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
A->G |
3  |
|
|
| p.Asn596Ser |
c.1787A>G |
12 |
596 |
Lever |
|
Small rearrangement |
Ts |
A->G |
2  |
|
|
| p.Asn919Ser |
c.2756A>G |
16 |
919 |
MSH3/MSH6 interaction |
|
Small rearrangement |
Ts |
A->G |
2  |
|
|