| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln664X |
c.1990C>T |
16 |
664 |
CRD-repeat #3 |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2748 |
---MD_FR#F758004011 | M |
|
FR |
|
0 |
|
|
c.IVS16+1G>T (c.1992+1G>T) |
16 |
664 |
|
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17369 |
---MD-US#3634 | M |
|
US |
|
0 |
|