| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS65+1215A>G (c.9563+1215A>G) |
65-66 |
3188 |
|
|
Small rearrangement |
Ts |
A->G |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6788 |
---MD_FR#F752753011 | M |
|
FR |
|
0 |
| 6786 |
---MD_FR#F751913011 | M |
|
FR |
|
0 |
|
|
c.IVS65+1G>A (c.9563+1G>A) |
65-66 |
3188 |
|
|
Small rearrangement |
Ts |
G->A |
7  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6772 |
---MD_FR#F3414408971 | M |
|
FR |
|
0 |
| 11492 |
---MD_JP#20091102-02 | M |
|
JP |
|
0 |
| 13269 |
---#D051 | M |
|
NL |
|
0 |
| 6782 |
---MD_FR#F69040648m1 | M |
|
FR |
|
0 |
| 6780 |
---MD_FR#F3444622301 | M |
|
FR |
|
0 |
| 6778 |
---MD_FR#F3441120701 | M |
|
FR |
|
0 |
| 6776 |
---MD_FR#F3436618801 | M |
|
FR |
|
0 |
|
|
c.IVS65-2A>G (c.9564-2A>G) |
65-66 |
3188 |
|
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6790 |
---MD_FR#F750541011 | M |
|
FR |
|
0 |
|
|
c.IVS65-2A>T (c.9564-2A>T) |
65-66 |
3188 |
|
|
Small rearrangement |
Tv |
A->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6784 |
---MD_FR#F3425514751 | M |
|
FR |
|
0 |
|
|
c.IVS65-427T>G (c.9564-427T>G) |
65-66 |
3188 |
|
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18432 |
---MD_CZ_SK#DMD-080930M-SH | M |
|
CZ |
|
0 |
|