| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser112Ser |
c.336C>A |
2 |
112 |
Mismatch binding |
|
Small rearrangement |
Tv |
C->A |
1  |
|
|
| p.Ser281Ser |
c.843A>T |
5 |
281 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
A->T |
3  |
|
|
| p.Ser860Ser |
c.2580G>A |
15 |
860 |
Helix-turn-helix |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2221 |
7_85728848E080628 | |
|
- |
|
7 |
|