| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS7+1G>T (c.649+1G>T) |
7-8 |
217 |
|
|
Small rearrangement |
Tv |
G->T |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12836 |
---MD_JP#20120425-01 | M |
|
JP |
|
0 |
| 14191 |
---MD_RS#DMD_69 | M |
|
RS |
|
0 |
|
|
c.IVS7+2T>C (c.649+2T>C) |
7-8 |
217 |
|
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13241 |
---#D035 | M |
|
NL |
|
0 |
|
|
c.IVS7+5G>A (c.649+5G>A) |
7-8 |
217 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18735 |
---MD_AU#245 | M |
|
AU |
|
0 |
|