| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser77CysfsX4 |
c.229_230delAG |
2 |
77 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 80 |
7  |
|
|
| p.Ser87CysfsX11 |
c.260_264delCTTTT |
2 |
87 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 97 |
2  |
|
|
| p.Gln130ValfsX2 |
c.387_388delTC |
3 |
129 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 131 |
2  |
|
|
| p.Ser268TyrfsX6 |
c.803delC |
5 |
268 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 273 |
1  |
|
|
| p.Ser271ArgfsX2 |
c.811_814delTCTG |
5 |
271 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 272 |
2  |
|
|
| p.Ser271CysfsX12 |
c.812_813delCT |
5 |
271 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 282 |
6  |
|
|
| p.Ser479X |
c.1435_1436delAG |
9 |
479 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 479 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2645 |
SO_-4822---G07233 | |
|
- |
|
71 |
|
| p.Ser558PhefsX2 |
c.1673delC |
11 |
558 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 559 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2331 |
SO_-1315---G00330 | |
|
- |
|
71 |
|
| p.Ser585GlnfsX4 |
c.1753_1756delTCTT |
11 |
585 |
Lever |
|
Small rearrangement |
Fr. |
Stop at 588 |
1  |
|
|
| p.Ser860TyrfsX17 |
c.2579_2592del |
15 |
860 |
Helix-turn-helix |
|
Small rearrangement |
Fr. |
Stop at 876 |
2  |
|
|