| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys66X |
c.196A>T |
4 |
66 |
Actin binding domain |
|
Small rearrangement |
Tv |
A->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1958 |
---MD_FR#F757533011 | M |
|
FR |
|
0 |
|
| p.Gly67AspfsX8 |
c.198delA |
4 |
66 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 74 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1956 |
---MD_FR#F3430216611 | M |
|
FR |
|
0 |
|