| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Trp3061GlyfsX29 |
c.9181insGG |
62 |
3061 |
CRD-hinge region #4 |
|
Small rearrangement |
Fr. |
Stop at 3089 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16585 |
---MD-US#1475 | M |
|
US |
|
0 |
|
| p.Trp3061X |
c.9182G>A |
62 |
3061 |
CRD-hinge region #4 |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18430 |
---MD_CZ_SK#MDB-4217 | M |
|
CZ |
|
0 |
|
| p.Trp3061X |
c.9183G>A |
62 |
3061 |
CRD-hinge region #4 |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 10759 |
---MD_IT#296 | M |
|
IT |
|
0 |
|