| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asp167His |
c.499G>C |
3 |
167 |
Connector |
|
Small rearrangement |
Tv |
G->C |
3  |
|
|
| p.Asp823His |
c.2467G>C |
15 |
823 |
ATPase |
|
Small rearrangement |
Tv |
G->C |
1  |
|
|