| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Arg214Gly |
c.640A>G |
3 |
214 |
Connector |
|
Small rearrangement |
Ts |
A->G |
1  |
|
|
| p.Arg621Gly |
c.1861C>G |
12 |
621 |
ATPase |
|
Small rearrangement |
Tv |
C->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3106 |
4_JCS1421352115331 | |
|
- |
|
4 |
|
| p.Arg638Gly |
c.1912A>G |
12 |
638 |
ATPase |
|
Small rearrangement |
Ts |
A->G |
1  |
|
|