| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu132GlyfsX7 |
c.394dup |
3 |
132 |
Connector |
|
Small rearrangement |
|
Stop at 138 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2621 |
SO_-4080---G06842 | |
|
- |
|
71 |
|
| p.Glu809GlyfsX15 |
c.2425dup |
14 |
809 |
ATPase |
|
Small rearrangement |
|
Stop at 823 |
1  |
|
|