| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Arg55Gln |
c.164G>A |
1 |
55 |
Mismatch binding |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 176 |
4_99090_19192_--- | |
|
- |
|
4 |
|
| p.Arg243Gln |
c.728G>A |
4 |
243 |
Connector |
|
Small rearrangement |
Ts |
G->A |
4  |
|
|
| p.Arg621Gln |
c.1862G>A |
12 |
621 |
ATPase |
|
Small rearrangement |
Ts |
G->A |
3  |
|
|
| p.Arg711Gln |
c.2132G>A |
13 |
711 |
ATPase |
|
Small rearrangement |
Ts |
G->A |
1  |
|
|