| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ala500Pro |
c.1498G>C |
9 |
500 |
Clamp |
|
Small rearrangement |
Tv |
G->C |
1  |
|
|
| p.Ala604Pro |
c.1810G>C |
12 |
604 |
Lever |
|
Small rearrangement |
Tv |
G->C |
1  |
|
|
| p.Ala636Pro |
c.1906G>C |
12 |
636 |
ATPase |
|
Small rearrangement |
Tv |
G->C |
14  |
|
|