| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Arg99Arg |
c.295A>C |
2 |
99 |
Mismatch binding |
|
Small rearrangement |
Tv |
A->C |
1  |
|
|
| p.Arg534Arg |
c.1602T>A |
10 |
534 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2637 |
SO_-4691---G07081 | |
|
- |
|
71 |
|
| p.Arg680Arg |
c.2038C>A |
13 |
680 |
ATP binding |
|
Small rearrangement |
Tv |
C->A |
4  |
|
|