| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Thr33Pro |
c.97A>C |
1 |
33 |
Mismatch binding |
|
Small rearrangement |
Tv |
A->C |
2  |
|
|
| p.Thr557Pro |
c.1669A>C |
11 |
557 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
A->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2475 |
SO_-3161---G03352 | |
|
- |
|
71 |
|
| p.Thr772Pro |
c.2314A>C |
14 |
772 |
ATPase |
|
Small rearrangement |
Tv |
A->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2572 |
SO_-4141---G06111 | |
|
- |
|
71 |
|
| p.Thr788Pro |
c.2362A>C |
14 |
788 |
ATPase |
|
Small rearrangement |
Tv |
A->C |
1  |
|
|