| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ile2283SerfsX9 |
c.6843_6846dup |
47 |
2283 |
CRD-repeat #18 |
|
Small rearrangement |
Fr. |
Stop at 2291 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 5458 |
---MD_FR#F3440220331 | M |
|
FR |
|
0 |
|
| p.Ser2284LysfsX7 |
c.6848dup |
47 |
2283 |
CRD-repeat #18 |
|
Small rearrangement |
|
Stop at 2290 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 5456 |
---MD_FR#F3418412391 | M |
|
FR |
|
0 |
|