| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly195X |
c.583G>T |
3 |
195 |
Connector |
|
Small rearrangement |
Tv |
G->T |
1  |
|
|
| p.Gly338X |
c.1012G>T |
6 |
338 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
G->T |
3  |
|
|
| p.Gly630X |
c.1888G>T |
12 |
630 |
ATPase |
|
Small rearrangement |
Tv |
G->T |
1  |
|
|
| p.Gly673X |
c.2017G>T |
13 |
673 |
ATP binding |
|
Small rearrangement |
Tv |
G->T |
1  |
|
|
| p.Gly751X |
c.2251G>T |
14 |
751 |
ATPase |
|
Small rearrangement |
Tv |
G->T |
3  |
|
|