| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln61Pro |
c.182A>C |
1 |
61 |
Mismatch binding |
|
Small rearrangement |
Tv |
A->C |
1  |
|
|
| p.Gln344Pro |
c.1031A>C |
6 |
344 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
A->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 152 |
4_H12122_28229_3988 | |
|
- |
|
4 |
|
| p.Gln681Pro |
c.2042A>C |
13 |
681 |
ATP binding |
|
Small rearrangement |
Tv |
A->C |
2  |
|
|