| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Trp354X |
c.1061G>A |
10 |
354 |
CRD-repeat #1 |
|
Small rearrangement |
Ts |
G->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11328 |
---MD_JP#20090915-01 | M |
|
JP |
|
0 |
| 15840 |
---MD_FI#FIN20 | M |
|
FI |
|
0 |
|
| p.Trp354X |
c.1062G>A |
10 |
354 |
CRD-repeat #1 |
|
Small rearrangement |
Ts |
G->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7579 |
---MD_CN_HOSP#233 | M |
|
CN |
|
0 |
| 704 |
---MD_CA_DM#169 | M |
|
CA |
|
0 |
|