| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly68Glu |
c.203G>A |
1 |
68 |
Mismatch binding |
|
Small rearrangement |
Ts |
G->A |
1  |
|
|
| p.Gly692Glu |
c.2075G>A |
13 |
692 |
ATPase |
|
Small rearrangement |
Ts |
G->A |
1  |
|
|