| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Trp2302X |
c.6905G>A |
47 |
2302 |
CRD-repeat #18 |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18418 |
---MD_CZ_SK#MDB-215 | M |
|
CZ |
|
0 |
|
| p.Trp2302X |
c.6906G>A |
47 |
2302 |
CRD-repeat #18 |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17359 |
---MD-US#3617 | M |
|
US |
|
0 |
|