| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly548Cys |
c.1642G>T |
10 |
548 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 175 |
4_B9814_---_--- | |
|
- |
|
4 |
|
| p.Gly669Cys |
c.2005G>T |
12-13 |
669 |
ATP binding |
|
Small rearrangement |
Tv |
G->T |
1  |
|
|