| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ile577Thr |
c.1730T>C |
11 |
577 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 494 |
17_F05165__5636 | |
|
- |
|
17 |
|
| p.Ile704Thr |
c.2111T>C |
13 |
704 |
ATPase |
|
Small rearrangement |
Ts |
T->C |
2  |
|
|