| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser233Cys |
c.698C>G |
4 |
233 |
Connector |
|
Small rearrangement |
Tv |
C->G |
2  |
|
|
| p.Ser554Cys |
c.1660A>T |
10-11 |
554 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
A->T |
4  |
|
|