| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu1674PhefsX48 |
c.5020_5021dup |
35 |
1674 |
CRD-repeat #12 |
|
Small rearrangement |
|
Stop at 1721 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 931 |
---MD_CH#13 | M |
|
CH |
|
0 |
|
| p.Leu1674X |
c.5021T>A |
35 |
1674 |
CRD-repeat #12 |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13561 |
---#D290 | M |
|
NL |
|
0 |
|