| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asp2740ArgfsX5 |
c.8217dup |
56 |
2740 |
CRD-repeat #22 |
|
Small rearrangement |
|
Stop at 2744 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6544 |
---MD_FR#F3436518771 | M |
|
FR |
|
0 |
|
|
c.IVS55-1G>C (c.8218-1G>C) |
56 |
2740 |
|
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16637 |
---MD-US#1608 | M |
|
US |
|
0 |
|
|
c.IVS55-2A>G (c.8218-2A>G) |
56 |
2740 |
|
|
Small rearrangement |
Ts |
A->G |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6562 |
---MD_FR#F758585011 | M |
|
FR |
|
0 |
| 12788 |
---MD_JP#20120312-01 | M |
|
JP |
|
0 |
|