| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Cys199Tyr |
c.596G>A |
3 |
199 |
Connector |
|
Small rearrangement |
Ts |
G->A |
2  |
|
|
| p.Cys333Tyr |
c.998G>A |
6 |
333 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
G->A |
6  |
|
|
| p.Cys697Tyr |
c.2090G>A |
13 |
697 |
ATPase |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 199 |
4_Di0702_20134_1949 | |
|
- |
|
4 |
|