| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu323LysfsX12 |
c.967delG |
10 |
323 |
CRD-hinge region #1 |
|
Small rearrangement |
Fr. |
Stop at 334 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8066 |
---MD_DE#097D64FC-7865-4FB | M |
|
DE |
|
0 |
|
| p.Glu323GlyfsX4 |
c.967dup |
10 |
323 |
CRD-hinge region #1 |
|
Small rearrangement |
|
Stop at 326 |
1 |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7603 |
---MD_CN_HOSP#221 | M |
|
CN |
|
0 |
|