| 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 |
| 3491 |
---753-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
| 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 |
| 2382 |
---302-6-11 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|