Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS1+1G>T (c.31+1G>T) |
1-2 |
11 |
|
|
Small rearrangement |
Tv |
G->T |
12 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1689 |
---277-4-6311 | Male |
Hemizygous |
FRANCE |
DCM |
116 |
2577 |
---C48-0-641 | Male |
Hemizygous |
FRANCE |
DCM |
116 |
1725 |
---219-8-3831 | Male |
Hemizygous |
FRANCE |
DCM |
116 |
1732 |
---219-8-5341 | Male |
Hemizygous |
FRANCE |
BMD |
116 |
1733 |
---219-8-5331 | Male |
Hemizygous |
FRANCE |
BMD |
116 |
2578 |
---C48-0-671 | Male |
Hemizygous |
FRANCE |
DCM |
116 |
1760 |
---219-8-4841 | Male |
Hemizygous |
FRANCE |
BMD |
116 |
1793 |
---277-4-6001 | Male |
Hemizygous |
FRANCE |
DCM |
116 |
1794 |
---277-4-6021 | Male |
Hemizygous |
FRANCE |
DCM |
116 |
868 |
---595-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
10 |
3225 |
---225-3-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
3322 |
---875-0-1 | Male |
Hemizygous |
FRANCE |
DCM |
1 |
|
|
c.IVS1+2insT (c.31+2insT) |
1-2 |
11 |
Dp427m unique N-Ter |
|
Small rearrangement |
Tv |
insT |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2703 |
---347-3-61 | Male |
Hemizygous |
FRANCE |
BMD |
106 |
|
|
c.IVS1+3insT (c.31+3insT) |
1-2 |
11 |
|
|
Small rearrangement |
Tv |
insT |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3340 |
---164-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
3341 |
---164-1-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
|
c.IVS1+5G>C (c.31+5G>C) |
1-2 |
11 |
|
|
Small rearrangement |
Tv |
G->C |
5 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
976 |
---639-0-1 | Male |
Hemizygous |
FRANCE |
DCM |
10 |
2993 |
---639-1-1 | Male |
Hemizygous |
FRANCE |
DCM |
1 |
2994 |
---639-2-1 | Male |
Hemizygous |
FRANCE |
DCM |
1 |
3525 |
---639-3-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
3572 |
---639-4-1 | Male |
Hemizygous |
FRANCE |
Asymptomatic |
1 |
|
|
c.IVS2+1del5 (c.93+1del5) |
2 |
31 |
|
|
Small rearrangement |
Tv |
del5 |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2259 |
---085-4-m1 | Male |
Hemizygous |
FRANCE |
IMD |
114 |
|
|
c.IVS2-1G>A (c.94-1G>A) |
3 |
32 |
|
|
Small rearrangement |
Ts |
G->A |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2650 |
---452-2-41 | Male |
Hemizygous |
FRANCE |
Pending |
106 |
664 |
---262-0-1 | Male |
Hemizygous |
- |
BMD |
10 |
|
|
c.IVS2-2A>T (c.94-2A>T) |
3 |
32 |
|
|
Small rearrangement |
Tv |
A->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1591 |
---216-2-01 | Male |
Hemizygous |
FRANCE |
Pending |
100 |
|
|
c.IVS3+1G>A (c.186+1G>A) |
3 |
32 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
973 |
---327-0-1 | Male |
Hemizygous |
- |
DMD |
1 |
|
|
c.IVS3-1G>C (c.187-1G>C) |
4 |
63 |
|
|
Small rearrangement |
Tv |
G->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
851 |
---062-0-1 | Male |
Hemizygous |
- |
BMD |
10 |
|
|
c.IVS3-2A>G (c.187-2A>G) |
4 |
63 |
|
|
Small rearrangement |
Ts |
A->G |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2593 |
---201-E-21 | Male |
Hemizygous |
FRANCE |
BMD |
114 |
2292 |
---186-0-m1 | Male |
Hemizygous |
FRANCE |
BMD |
114 |
2297 |
---201-0-41 | Male |
Hemizygous |
FRANCE |
BMD |
114 |
|
|
c.IVS5+1G>A (c.357+1G>A) |
5 |
119 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3101 |
---718-1-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS5+1G>C (c.357+1G>C) |
5 |
119 |
|
|
Small rearrangement |
Tv |
G->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3100 |
---718-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
|
c.IVS5-1G>A (c.358-1G>A) |
6 |
120 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1932 |
---061-4-41 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
|
c.IVS5-2A>G (c.358-2A>G) |
6 |
120 |
|
|
Small rearrangement |
Ts |
A->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1604 |
---254-4-41 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
|
c.IVS6+2T>C (c.530+2T>C) |
6-7 |
177 |
Actin binding domain |
|
Small rearrangement |
Ts |
T->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2761 |
---508-5-41 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
|
c.IVS6-10T>A (c.531-10T>A) |
6-7 |
177 |
Actin binding domain |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2768 |
---349-9-22 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
106 |
|
|
c.IVS6-1G>T (c.531-1G>T) |
6-7 |
177 |
|
|
Small rearrangement |
Tv |
G->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3154 |
---175-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3410 |
---175-0-2 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
1 |
|
|
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 |
3151 |
---414-0-1 | Male |
Hemizygous |
- |
BMD |
1 |
|
|
c.IVS11+1G>T (c.1331+1G>T) |
11-12 |
444 |
|
|
Small rearrangement |
Tv |
G->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3028 |
---408-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
3149 |
---121-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS11-9A>G (c.1332-9A>G) |
11-12 |
444 |
|
|
Small rearrangement |
Ts |
A->G |
4 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1701 |
---082-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
3108 |
---804-0-1 | Male |
Hemizygous |
- |
DMD |
1 |
3248 |
---082-1-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3249 |
---082-2-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS12+1G>T (c.1482+1G>T) |
12 |
494 |
|
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1477 |
---287-6-21 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
|
c.IVS12-1G>C (c.1483-1G>C) |
13 |
495 |
|
|
Small rearrangement |
Tv |
G->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3203 |
---091-0-1 | Male |
Hemizygous |
- |
BMD |
1 |
|
|
c.IVS13+1G>A (c.1602+1G>A) |
13 |
495 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
959 |
---230-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
10 |
|
|
c.IVS13+1G>T (c.1602+1G>T) |
13 |
534 |
|
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2653 |
---471-3-01 | Male |
Hemizygous |
FRANCE |
BMD |
106 |
|
|
c.IVS13-1G>A (c.1603-1G>A) |
14 |
535 |
|
|
Small rearrangement |
Ts |
G->A |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2596 |
---CM2-C-41 | Male |
Hemizygous |
BELGIUM |
DCM |
106 |
2597 |
---CM2-C-51 | Male |
Hemizygous |
BELGIUM |
DCM |
106 |
2595 |
---CM2-0-41 | Male |
Hemizygous |
BELGIUM |
DCM |
106 |
|
|
c.IVS13-2A>C (c.1603-2A>C) |
14 |
535 |
|
|
Small rearrangement |
Tv |
A->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1582 |
---197-1-61 | Male |
Hemizygous |
FRANCE |
BMD |
124 |
|
|
c.IVS14+1G>T (c.1704+1G>T) |
14 |
568 |
|
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3090 |
---795-0-1 | Male |
Hemizygous |
SWITZERLAND |
BMD |
1 |
|
|
c.IVS18-1G>T (c.2293-1G>T) |
19 |
765 |
|
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1508 |
---025-0-21 | Male |
Hemizygous |
FRANCE |
DMD |
111 |
|
|
c.IVS18-5del7a (c.2293-5del7a) |
19 |
765 |
|
|
Small rearrangement |
Tv |
del7a |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3223 |
---089-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS19-2A>G (c.2381-2A>G) |
19-20 |
794 |
|
|
Small rearrangement |
Ts |
A->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2607 |
---051-1-m1 | Male |
Hemizygous |
FRANCE |
BMD |
114 |
|
|
c.IVS20+1G>A (c.2622+1G>A) |
20 |
874 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3093 |
---538-0-1 | Male |
Hemizygous |
- |
DMD |
1 |
|
|
c.IVS20+2T>G (c.2622+2T>G) |
20 |
874 |
|
|
Small rearrangement |
Tv |
T->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2290 |
---184-0-61 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
|
c.IVS21-2A>C (c.2804-2A>C) |
21-22 |
935 |
|
|
Small rearrangement |
Tv |
A->C |
4 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1571 |
---176-0-31 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
980 |
---670-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
3575 |
---670-1-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3576 |
---670-0-2 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
1 |
|
|
c.IVS21-2A>T (c.2804-2A>T) |
21-22 |
935 |
|
|
Small rearrangement |
Tv |
A->T |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2809 |
---664-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
2965 |
---664-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
3557 |
---055-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS22+1G>T (c.2949+1G>T) |
22 |
983 |
|
|
Small rearrangement |
Tv |
G->T |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1562 |
---276-5-91 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
3038 |
---762-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
3447 |
---575-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS24+1G>A (c.3276+1G>A) |
24 |
1092 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1294 |
---653-0-1 | Male |
Hemizygous |
- |
DMD |
1 |
|
|
c.IVS24-1G>T (c.3277-1G>T) |
25 |
1093 |
|
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3071 |
---787-0-1 | Male |
Hemizygous |
- |
BMD |
1 |
|
|
c.IVS26+2insT (c.3603+2insT) |
26 |
1201 |
|
|
Small rearrangement |
Tv |
insT |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2569 |
---437-1-71 | Male |
Hemizygous |
FRANCE |
BMD |
106 |
|
|
c.IVS26+2T>A (c.3603+2T>A) |
26 |
1201 |
|
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1514 |
---131-9-71 | Male |
Hemizygous |
FRANCE |
DMD |
105 |
|
|
c.IVS26+3A>T (c.3603+3A>T) |
26 |
1201 |
|
|
Small rearrangement |
Tv |
A->T |
5 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2275 |
---148-1-m1 | Male |
Hemizygous |
FRANCE |
BMD |
114 |
2897 |
---249-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
2898 |
---249-1-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
2899 |
---249-2-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
2900 |
---249-3-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
|
c.IVS26+3insT (c.3603+3insT) |
26 |
1201 |
|
|
Small rearrangement |
Tv |
insT |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1295 |
---038-0-1 | Male |
Hemizygous |
- |
BMD |
10 |
3474 |
---185-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
|
c.IVS29+1G>A (c.4071+1G>A) |
29 |
1357 |
|
|
Small rearrangement |
Ts |
G->A |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2248 |
---054-D-21 | Male |
Hemizygous |
FRANCE |
BMD |
114 |
2249 |
---054-D-31 | Male |
Hemizygous |
FRANCE |
BMD |
114 |
2250 |
---054-D-41 | Male |
Hemizygous |
FRANCE |
BMD |
114 |
|
|
c.IVS29+2T>A (c.4071+2T>A) |
29 |
1357 |
|
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1296 |
---146-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
10 |
|
|
c.IVS29+2T>C (c.4071+2T>C) |
29 |
1357 |
|
|
Small rearrangement |
Ts |
T->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3145 |
---020-0-1 | Male |
Hemizygous |
- |
BMD |
1 |
|
|
c.IVS32+1G>A (c.4518+1G>A) |
32 |
1506 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1576 |
---183-0-71 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
|
c.IVS32-3del7 (c.4519-3del7) |
33 |
1507 |
|
|
Small rearrangement |
Tv |
del7 |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1089 |
---135-0-1 | Male |
Hemizygous |
- |
BMD |
10 |
1090 |
---135-1-1 | Male |
Hemizygous |
- |
BMD |
1 |
|
|
c.IVS32-5C>G (c.4519-5C>G) |
33 |
1507 |
|
|
Small rearrangement |
Tv |
C->G |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2293 |
---189-2-m1 | Male |
Hemizygous |
FRANCE |
BMD |
114 |
2294 |
---189-0-81 | Male |
Hemizygous |
FRANCE |
BMD |
114 |
1609 |
---282-5-21 | Male |
Hemizygous |
FRANCE |
BMD |
124 |
|
|
c.IVS34+2T>C (c.4845+2T>C) |
34 |
1615 |
|
|
Small rearrangement |
Ts |
T->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3566 |
---914-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
|
c.IVS36+1G>A (c.5154+1G>A) |
36 |
1718 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
637 |
---384-0-1 | Male |
Hemizygous |
- |
BMD |
10 |
|
|
c.IVS40-2A>G (c.5740-2A>G) |
41 |
1914 |
|
|
Small rearrangement |
Ts |
A->G |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
972 |
---603-0-1 | Male |
Hemizygous |
- |
BMD |
10 |
3063 |
---977-1-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
3554 |
---977-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
|
c.IVS40-2A>T (c.5740-2A>T) |
41 |
1914 |
|
|
Small rearrangement |
Tv |
A->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
958 |
---641-0-1 | Male |
Hemizygous |
- |
BMD |
10 |
|
|
c.IVS41+2T>C (c.5922+2T>C) |
41 |
1974 |
|
|
Small rearrangement |
Ts |
T->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2995 |
---733-0-1 | Male |
Hemizygous |
- |
BMD |
10 |
|
|
c.IVS43+1G>T (c.6290+1G>T) |
43-44 |
2097 |
|
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2308 |
---233-6-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
|
c.IVS43+2T>C (c.6290+2T>C) |
43-44 |
2097 |
|
|
Small rearrangement |
Ts |
T->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3035 |
---172-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS43+5del1 (c.6290+5del1) |
43-44 |
2097 |
|
|
Small rearrangement |
Tv |
del1 |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2834 |
---543-0-1 | Male |
Hemizygous |
- |
BMD |
10 |
2990 |
---543-0-1 | Male |
Hemizygous |
- |
BMD |
10 |
|
|
c.IVS44-1G>A (c.6439-1G>A) |
45 |
2147 |
|
|
Small rearrangement |
Ts |
G->A |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3445 |
---880-0-1 | Male |
Hemizygous |
FRANCE |
Pending |
1 |
3446 |
---880-1-1 | Male |
Hemizygous |
FRANCE |
Pending |
1 |
|
|
c.IVS44-2A>G (c.6439-2A>G) |
45 |
2147 |
|
|
Small rearrangement |
Ts |
A->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3032 |
---675-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
10 |
|
|
c.IVS45+1G>A (c.6614+1G>A) |
45-46 |
2205 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3085 |
---675-0-2 | Female |
Heterozygous |
- |
Symptomatic carrier |
1 |
|
|
c.IVS47-2A>G (c.6913-2A>G) |
48 |
2305 |
|
|
Small rearrangement |
Ts |
A->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1598 |
---240-3-61 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
|
c.IVS48+1G>A (c.7098+1G>A) |
48 |
2366 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3268 |
---504-5-11 | Male |
Hemizygous |
FRANCE |
Pending |
1 |
|
|
c.IVS48+1G>T (c.7098+1G>T) |
48 |
2366 |
|
|
Small rearrangement |
Tv |
G->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2236 |
---372-8-11 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
2237 |
---372-8-21 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
|
c.IVS50+1G>A (c.7309+1G>A) |
50-51 |
2437 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2599 |
---114-7-51 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
|
c.IVS50+2T>A (c.7309+2T>A) |
50-51 |
2437 |
|
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3144 |
---874-0-1 | Male |
Hemizygous |
- |
DMD |
1 |
|
|
c.IVS50-1G>A (c.7310-1G>A) |
50-51 |
2437 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2301 |
---218-1-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
|
c.IVS51+2T>C (c.7542+2T>C) |
51 |
2514 |
|
|
Small rearrangement |
Ts |
T->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
666 |
---025-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
10 |
|
|
c.IVS54+1G>A (c.8027+1G>A) |
54-55 |
2676 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1478 |
---288-6-51 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
|
c.IVS55-2A>G (c.8218-2A>G) |
56 |
2740 |
|
|
Small rearrangement |
Ts |
A->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3134 |
---858-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS60-1G>A (c.9085-1G>A) |
61 |
3029 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2536 |
---449-2-11 | Male |
Hemizygous |
PANAMA |
DMD |
106 |
|
|
c.IVS62+1G>A (c.9224+1G>A) |
62-63 |
3075 |
|
|
Small rearrangement |
Ts |
G->A |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2262 |
---097-C-71 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
3074 |
---055-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
|
|
c.IVS62+5G>C (c.9224+5G>C) |
62-63 |
3075 |
|
|
Small rearrangement |
Tv |
G->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2124 |
---292-6-91 | Male |
Hemizygous |
- |
DMD |
106 |
|
|
c.IVS62-1G>A (c.9225-1G>A) |
62-63 |
3075 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
694 |
---146-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
|
|
c.IVS63+2T>A (c.9286+2T>A) |
63-64 |
3096 |
|
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2253 |
---075-7-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
|
c.IVS64+5G>C (c.9361+5G>C) |
64-65 |
3121 |
|
|
Small rearrangement |
Tv |
G->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3454 |
---966-0-1 | Male |
Hemizygous |
SPAIN |
BMD |
1 |
|
|
c.IVS64-1G>A (c.9362-1G>A) |
64-65 |
3121 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2304 |
---226-2-m1 | Male |
Hemizygous |
FRANCE |
Pending |
114 |
|
|
c.IVS65+1G>A (c.9563+1G>A) |
65-66 |
3188 |
|
|
Small rearrangement |
Ts |
G->A |
5 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1515 |
---144-8-71 | Male |
Hemizygous |
FRANCE |
DMD |
105 |
2380 |
---366-8-01 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
2535 |
---411-0-01 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
2625 |
---446-2-01 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
2243 |
---040-4-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
|
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 |
3265 |
---054-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
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 |
1605 |
---255-4-51 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
|
c.IVS66+1G>A (c.9649+1G>A) |
66-67 |
3217 |
|
|
Small rearrangement |
Ts |
G->A |
4 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1750 |
---225-0-4191 | Male |
Hemizygous |
FRANCE |
DMD |
120 |
649 |
---094-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
668 |
---420-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
669 |
---420-1-1 | Male |
Hemizygous |
- |
DMD |
1 |
|
|
c.IVS66-3del7a (c.9650-3del7a) |
66-67 |
3217 |
|
|
Small rearrangement |
Tv |
del7a |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
857 |
---136-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
10 |
|
|
c.IVS67+4del1 (c.9807+4del1) |
67 |
3269 |
|
|
Small rearrangement |
Tv |
del1 |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1563 |
---160-9-21 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
|
c.IVS67+5G>A (c.9807+5G>A) |
67 |
3269 |
|
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2869 |
---101-1-11 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS68+1G>T (c.9974+1G>T) |
68-69 |
3325 |
|
|
Small rearrangement |
Tv |
G->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3019 |
---789-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
3020 |
---789-1-1 | Male |
Hemizygous |
- |
DMD |
1 |
|
|
c.IVS69+1G>T (c.10086+1G>T) |
69 |
3362 |
|
|
Small rearrangement |
Tv |
G->T |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2664 |
---084-5-82 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
106 |
1661 |
---084-5-81 | Male |
Hemizygous |
FRANCE |
DMD |
101 |
690 |
---101-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
|
|
c.IVS69+5G>C (c.10086+5G>C) |
69 |
3362 |
|
|
Small rearrangement |
Tv |
G->C |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1641 |
---080-5-01 | Male |
Hemizygous |
FRANCE |
DMD |
103 |
|
|
c.IVS69-2A>T (c.10087-2A>T) |
70 |
3363 |
|
|
Small rearrangement |
Tv |
A->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1458 |
---311-7-51 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
|
c.IVS70+1G>A (c.10223+1G>A) |
70-71 |
3408 |
|
|
Small rearrangement |
Ts |
G->A |
7 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1570 |
---175-0-11 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
2280 |
---154-5-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
1712 |
---C15-5-6991 | Male |
Hemizygous |
FRANCE |
DMD |
116 |
667 |
---424-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
1085 |
---151-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
3001 |
---406-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
3220 |
---406-1-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS70+2insT (c.10223+2insT) |
70-71 |
3408 |
|
|
Small rearrangement |
Tv |
insT |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2272 |
---145-7-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
2661 |
---514-5-61 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
|
c.IVS70+3G>C (c.10223+3G>C) |
70-71 |
3408 |
|
|
Small rearrangement |
Tv |
G->C |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2302 |
---221-7-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
660 |
---380-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
|
|
c.IVS70+5G>A (c.10223+5G>A) |
70-71 |
3408 |
|
|
Small rearrangement |
Ts |
G->A |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2570 |
---205-8-3391 | Male |
Hemizygous |
FRANCE |
DMD |
116 |
3131 |
---475-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
|
c.IVS74-2A>G (c.10554-2A>G) |
74-75 |
3518 |
|
|
Small rearrangement |
Ts |
A->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1511 |
---133-8-01 | Male |
Hemizygous |
FRANCE |
BMD |
105 |
|