| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Trp551LeufsX16 |
c.1651dup |
14 |
551 |
CRD-repeat #2 |
|
Small rearrangement |
Fr. |
Stop at 566 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8800 |
---MD_DE#8DBEE1FA-5C2E-41B | M |
|
DE |
|
0 |
|
| p.Trp551X |
c.1652G>A |
14 |
551 |
CRD-repeat #2 |
|
Small rearrangement |
Ts |
G->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11326 |
---MD_JP#20090914-07 | M |
|
JP |
|
0 |
| 11049 |
---MD_IT#511 | M |
|
IT |
|
0 |
|
| p.Trp551X |
c.1653G>A |
14 |
551 |
CRD-repeat #2 |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2706 |
---MD_FR#F759356011 | M |
|
FR |
|
0 |
|