| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Tyr3394ThrfsX8 |
c.10179delC |
70 |
3393 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3401 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15061 |
---MD_UK#11 | M |
|
UK |
|
0 |
|
| p.Tyr3394SerfsX36 |
c.10179_10186del |
70 |
3393 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3429 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13405 |
---#D169 | M |
|
NL |
|
0 |
|