| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Tyr66Tyr |
c.198C>T |
1 |
66 |
Mismatch binding |
|
Small rearrangement |
Ts |
C->T |
1  |
|
|
| p.Tyr521Tyr |
c.1563T>C |
10 |
521 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
T->C |
1  |
|
|
| p.Tyr757Tyr |
c.2271C>T |
14 |
757 |
ATPase |
|
Small rearrangement |
Ts |
C->T |
1  |
|
|