| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ile2762AsnfsX10 |
c.8284dup |
56 |
2762 |
CRD-repeat #22 |
|
Small rearrangement |
|
Stop at 2771 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7377 |
---MD_CN_HOSP#334 | M |
|
CN |
|
0 |
|
| p.Ile2762LysfsX16 |
c.8285_8300del |
56 |
2762 |
CRD-repeat #22 |
|
Small rearrangement |
Fr. |
Stop at 2777 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8392 |
---MD_DE#47B95A6A-92A1-4F7 | M |
|
DE |
|
0 |
|