| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Val515GlyfsX4 |
c.1543dup |
13 |
515 |
CRD-repeat #2 |
|
Small rearrangement |
|
Stop at 518 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2654 |
---MD_FR#F758641011 | M |
|
FR |
|
0 |
|
| p.Val516GlyfsX3 |
c.1544dup |
13 |
515 |
CRD-repeat #2 |
|
Small rearrangement |
|
Stop at 518 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2652 |
---MD_FR#F3435218691 | M |
|
FR |
|
0 |
|