| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Thr44ArgfsX20 |
c.131delC |
1 |
44 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 63 |
3  |
|
|
| p.Thr526ProfsX17 |
c.1576delA |
10 |
526 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 542 |
1  |
|
|
| p.Thr754IlefsX9 |
c.2261delC |
14 |
754 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 762 |
1  |
|
|
| p.Thr810CysfsX5 |
c.2428_2437del |
14 |
810 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 814 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2223 |
7_85279192E081082 | |
|
- |
|
7 |
|
| p.Leu811AsnfsX12 |
c.2430_2431delCT |
14 |
810 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 822 |
1  |
|
|