| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu476GlyfsX7 |
c.1426dup |
12 |
476 |
CRD-repeat #2 |
|
Small rearrangement |
|
Stop at 482 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2606 |
---MD_FR#F690950FQ51 | M |
|
FR |
|
0 |
|
| p.Glu476X |
c.1426G>T |
12 |
476 |
CRD-repeat #2 |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8144 |
---MD_DE#1583F8E5-04CD-4B9 | M |
|
DE |
|
0 |
|