| Variation type |
Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Trp236X |
c.708G>A |
5 |
236 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 30 |
CS493VI | |
Heterozygous |
FRANCE |
|
0 |
|
| p.Trp517X |
c.1551G>A |
7 |
517 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 59 |
CS2TAN | |
Homozygous |
TURKEY |
|
4 |
|