| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu880MetfsX16 |
c.2624_2637dup |
21 |
880 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Stop at 895 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2962 |
---MD_FR#F757644011 | M |
|
FR |
|
0 |
|
| p.Leu880TyrfsX11 |
c.2638delC |
21 |
880 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Stop at 890 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2960 |
---MD_FR#F753615011 | M |
|
FR |
|
0 |
|