| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Trp117X |
c.350G>A |
2 |
117 |
Mismatch binding |
|
Small rearrangement |
Ts |
G->A |
2  |
|
|
| p.Trp345X |
c.1034G>A |
6 |
345 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2397 |
SO_-1102---G01568 | |
|
- |
|
71 |
|
| p.Trp764X |
c.2292G>A |
14 |
764 |
ATPase |
|
Small rearrangement |
Ts |
G->A |
2  |
|
|