| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Arg382Cys |
c.1144C>T |
7 |
382 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
C->T |
1  |
|
|
| p.Arg524Cys |
c.1570C>T |
10 |
524 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2232 |
7_539010293E090318 | |
|
- |
|
7 |
|