| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS18+1G>A (c.2292+1G>A) |
18 |
764 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15119 |
---MD_UK#41 | M |
|
UK |
|
0 |
|
|
c.IVS18+1G>T (c.2292+1G>T) |
18 |
764 |
|
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17748 |
---MD_CN_ORG#DMD_84 | M |
|
CN |
|
0 |
|
|
c.IVS18+2T>C (c.2292+2T>C) |
18 |
764 |
|
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 882 |
---MD_CA_DM#294 | M |
|
CA |
|
0 |
|