| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser3343LeufsX34 |
c.10027delT |
69 |
3343 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3376 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6878 |
---MD_FR#F37C204807311 | M |
|
FR |
|
0 |
|
| p.Ser3343PhefsX9 |
c.10027dup |
69 |
3343 |
Carboxy-terminal region |
|
Small rearrangement |
|
Stop at 3351 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7483 |
---MD_CN_HOSP#279 | M |
|
CN |
|
0 |
|