| Variation type |
Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Tyr1179IlefsX22 |
c.3535delT |
18 |
1179 |
|
|
Small rearrangement |
Fr. |
Stop at 1200 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 68 |
CS2BE | |
Heterozygous |
U.K. |
|
4 |
|
| p.Tyr1179LeufsX22 |
c.3536delA |
18 |
1179 |
|
|
Small rearrangement |
Fr. |
Stop at 1200 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 63 |
CS1BE | |
Heterozygous |
- |
|
4 |
|