| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Cys176X |
c.528_529delTG |
3 |
176 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 176 |
5  |
|
|
| p.Cys199TrpfsX15 |
c.597delT |
3 |
199 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 213 |
2  |
|
|
| p.Cys333X |
c.998_999delGT |
6 |
333 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 333 |
2  |
|
|