Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS1+36947G>A (c.31+36947G>A) |
1-2 |
11 |
|
|
Small rearrangement |
Ts |
G->A |
7 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3275 |
---726-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
10 |
3349 |
---138-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
10 |
3441 |
---558-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
3473 |
---966-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
3485 |
---262-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
3580 |
---262-1-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
3586 |
---558-1-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
|
c.IVS4-463A>G (c.265-463A>G) |
5 |
89 |
|
|
Small rearrangement |
Ts |
A->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2917 |
---301-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
|
c.IVS8-15A>G (c.832-15A>G) |
9 |
278 |
|
|
Small rearrangement |
Ts |
A->G |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2390 |
---151-9-71 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
2694 |
---151-9-11 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
|
c.IVS9-5831C>T (c.961-5831C>T) |
10 |
321 |
|
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
692 |
---010-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
4 |
3205 |
---010-1-1 | Male |
Hemizygous |
FRANCE |
BMD |
4 |
|
|
c.IVS9-5925A>C (c.961-5925A>C) |
10 |
321 |
|
|
Small rearrangement |
Tv |
A->C |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1459 |
---306-7-01 | Male |
Hemizygous |
FRANCE |
BMD |
124 |
2459 |
---306-1-31 | Male |
Hemizygous |
FRANCE |
BMD |
106 |
|
|
c.IVS12-17A>G (c.1483-17A>G) |
13 |
495 |
|
|
Small rearrangement |
Ts |
A->G |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3509 |
---823-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
3510 |
---823-1-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
|
c.IVS15+601A>G (c.1812+601A>G) |
15 |
604 |
|
|
Small rearrangement |
Ts |
A->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3402 |
---896-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS25+2036A>G (c.3432+2036A>G) |
25 |
1144 |
|
|
Small rearrangement |
Ts |
A->G |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1596 |
---228-2-31 | Male |
Hemizygous |
FRANCE |
BMD |
104 |
1853 |
---257-0-1 | Male |
Hemizygous |
- |
BMD |
1 |
3170 |
---257-1-1 | Male |
Hemizygous |
- |
BMD |
1 |
|
|
c.IVS34-1469A>G (c.4846-1469A>G) |
35 |
1616 |
|
|
Small rearrangement |
Ts |
A->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2908 |
---999-0-1 | Male |
Hemizygous |
CANADA |
DMD |
1 |
|
|
c.IVS60-15519G>T (c.9085-15519G>T) |
61 |
3029 |
|
|
Small rearrangement |
Tv |
G->T |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
759 |
---160-0-1 | Male |
Hemizygous |
FRANCE |
IMD |
4 |
894 |
---160-1-1 | Male |
Hemizygous |
FRANCE |
DMD |
4 |
2878 |
---160-2-1 | Male |
Hemizygous |
FRANCE |
Pending |
1 |
|
|
c.IVS62-160A>G (c.9225-160A>G) |
62-63 |
3075 |
|
|
Small rearrangement |
Ts |
A->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3089 |
---594-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
|
c.IVS62-285A>G (c.9225-285A>G) |
62-63 |
3075 |
|
|
Small rearrangement |
Ts |
A->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1651 |
---067-4-61 | Male |
Hemizygous |
FRANCE |
BMD |
104 |
|
|
c.IVS62-647A>G (c.9225-647A>G) |
62-63 |
3075 |
|
|
Small rearrangement |
Ts |
A->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1088 |
---553-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
4 |
|
|
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 |
3036 |
---191-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
3140 |
---275-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS74-18C>G (c.10554-18C>G) |
74-75 |
3518 |
|
|
Small rearrangement |
Tv |
C->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3117 |
---743-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|