| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asn3378LysfsX55 |
c.10133dup |
70 |
3378 |
Carboxy-terminal region |
|
Small rearrangement |
|
Stop at 3432 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 293 |
---MD_BG#17 | M |
|
BG |
|
0 |
|
| p.Lys3379PhefsX22 |
c.10134_10137delCAAA |
70 |
3378 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3400 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15049 |
---MD_UK#5 | M |
|
UK |
|
0 |
|