| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly40Gly |
c.120C>T |
1 |
40 |
Mismatch binding |
|
Small rearrangement |
Ts |
C->T |
1  |
|
|
| p.Gly71Gly |
c.213A>G |
1-2 |
71 |
Mismatch binding |
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2237 |
7_998710390E090456 | |
|
- |
|
7 |
|
| p.Gly247Gly |
c.741C>T |
4 |
247 |
Connector |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1464 |
7_444453E01139 | |
|
- |
|
7 |
|
| p.Gly587Gly |
c.1761C>G |
11-12 |
587 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
C->G |
2  |
|
|
| p.Gly713Gly |
c.2139G>T |
13 |
713 |
ATPase |
|
Small rearrangement |
Tv |
G->T |
1  |
|
|