| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Val63X |
c.187delG |
1 |
63 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 63 |
1  |
|
|
| p.Val147CysfsX4 |
c.439_440delGT |
3 |
147 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 150 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3170 |
4_Ni1401347995261 | |
|
- |
|
4 |
|
| p.Val150AlafsX3 |
c.449_522del |
3 |
150 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 152 |
1  |
|
|
| p.Val437X |
c.1309delG |
8 |
437 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 437 |
3  |
|
|
| p.Val463IlefsX8 |
c.1387_1400del |
9 |
463 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 470 |
5  |
|
|
| p.Ser703_Val712del |
c.2106_2135del |
13 |
702 |
ATPase |
|
Small rearrangement |
InF |
In frame del |
2  |
|
|
| p.Ser723HisfsX3 |
c.2166_2173del |
13 |
722 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 725 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 202 |
4_CF1275_---_--- | |
|
- |
|
4 |
|