| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu692GlyfsX28 |
c.2074dup |
17 |
692 |
CRD-hinge region #2 |
|
Small rearrangement |
|
Stop at 719 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2788 |
---MD_FR#F69171588m1 | M |
|
FR |
|
0 |
|
| p.Glu692X |
c.2074G>T |
17 |
692 |
CRD-hinge region #2 |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8282 |
---MD_DE#2FE41878-A838-44F | M |
|
DE |
|
0 |
|