| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Cys1258AspfsX11 |
c.3772_3776delTGCAA |
27 |
1258 |
CRD-repeat #8 |
|
Small rearrangement |
Fr. |
Stop at 1268 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3160 |
TNMD_FR#F754616011 | M |
|
FR |
|
0 |
|
| p.Ala2025X |
c.6072_6073delTG |
42 |
2024 |
CRD-repeat #16 |
|
Small rearrangement |
Fr. |
Stop at 2025 |
1 |
|
|
| p.Cys3340AlafsX37 |
c.10018delT |
69 |
3340 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3376 |
1 |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15834 |
TNMD_FI#FIN17 | M |
|
FI |
|
0 |
|