| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln60AlafsX29 |
c.177dup |
3 |
60 |
Actin binding domain |
|
Small rearrangement |
|
Stop at 88 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1922 |
---MD_FR#F751217011 | M |
|
FR |
|
0 |
|
| p.Gln60X |
c.178C>T |
3 |
60 |
Actin binding domain |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 365 |
---MD_BG#53 | M |
|
BG |
|
0 |
|