| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS17-1G>A (c.2169-1G>A) |
17-18 |
723 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11240 |
---MD_JP#20090821-02 | M |
|
JP |
|
0 |
|
|
c.IVS17-2A>G (c.2169-2A>G) |
17-18 |
723 |
|
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 411 |
---MD_BG#78 | M |
|
BG |
|
0 |
|
|
c.IVS17-2A>T (c.2169-2A>T) |
17-18 |
723 |
|
|
Small rearrangement |
Tv |
A->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17832 |
---MD_CN_ORG#DMD_123 | M |
|
CN |
|
0 |
|