| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asp91Tyr |
c.271G>T |
2 |
91 |
Mismatch binding |
|
Small rearrangement |
Tv |
G->T |
1  |
|
|
| p.Asp748Tyr |
c.2242G>T |
14 |
748 |
ATPase |
|
Small rearrangement |
Tv |
G->T |
6  |
|
|