| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser142X |
c.425C>A |
3 |
142 |
Connector |
|
Small rearrangement |
Tv |
C->A |
3  |
|
|
| p.Ser281X |
c.842C>G |
5 |
281 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
C->G |
11  |
|
|
| p.Ser473X |
c.1418C>G |
9 |
473 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
C->G |
1  |
|
|
| p.Ser494X |
c.1481C>A |
9 |
494 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
C->A |
1  |
|
|
| p.Ser612X |
c.1835C>G |
12 |
612 |
Lever |
|
Small rearrangement |
Tv |
C->G |
2  |
|
|
| p.Ser743X |
c.2228C>A |
14 |
743 |
ATPase |
|
Small rearrangement |
Tv |
C->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 203 |
4_C02030 _17116_703 | |
|
- |
|
4 |
|
| p.Ser743X |
c.2228C>G |
14 |
743 |
ATPase |
|
Small rearrangement |
Tv |
C->G |
6  |
|
|