| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asn465ThrfsX6 |
c.1394delA |
9 |
465 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 470 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2570 |
SO_-4128---G06095 | |
|
- |
|
71 |
|
| p.Asn538ThrfsX5 |
c.1613delA |
10 |
538 |
Clamp |
|
Small rearrangement |
Fr. |
Stop at 542 |
3  |
|
|
| p.Asn596del |
c.1786_1788delAAT |
12 |
596 |
EXO1 stabilization |
|
Small rearrangement |
InF |
In frame del |
17  |
|
|
| p.Asn792IlefsX20 |
c.2375delA |
14 |
792 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 811 |
2  |
|
|