Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
p.Trp4X |
c.11G>A |
1 |
4 |
Dp427m unique N-Ter |
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2288 |
---179-5-m1 | Male |
Hemizygous |
FRANCE |
BMD |
114 |
|
p.Lys66X |
c.196A>T |
4 |
66 |
Actin binding domain |
|
Small rearrangement |
Tv |
A->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3491 |
---753-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Gly67X |
c.199G>T |
4 |
67 |
Actin binding domain |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3102 |
---118-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Gln85X |
c.253C>T |
4 |
85 |
Actin binding domain |
|
Small rearrangement |
Ts |
C->T |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3026 |
---591-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
3150 |
---040-0-1 | Male |
Hemizygous |
FRANCE |
IMD |
1 |
2445 |
---040-1-1 | Male |
Hemizygous |
FRANCE |
IMD |
1 |
|
p.Gln133X |
c.397C>T |
6 |
133 |
Actin binding domain |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2298 |
---205-A-41 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
2660 |
---509-5-51 | Male |
Hemizygous |
FRANCE |
Pending |
106 |
|
p.Arg145X |
c.433C>T |
6 |
145 |
Actin binding domain |
|
Small rearrangement |
Ts |
C->T |
7 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1413 |
---140-6-51 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
2495 |
---096-0-91 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
2657 |
---140-6-42 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
106 |
2699 |
---506-4-71 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
2700 |
---506-4-61 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
3147 |
---728-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3578 |
---989-0-1 | Male |
Hemizygous |
ALGERIA |
DMD |
1 |
|
p.Ser147X |
c.440C>A |
6 |
147 |
Actin binding domain |
|
Small rearrangement |
Tv |
C->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
639 |
---066-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
|
p.Gln189X |
c.565C>T |
7 |
189 |
Actin binding domain |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
966 |
---626-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
p.Gln190X |
c.568C>T |
7 |
190 |
Actin binding domain |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3118 |
---818-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Ser191X |
c.572C>G |
7 |
191 |
Actin binding domain |
|
Small rearrangement |
Tv |
C->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1504 |
---021-3-81 | Male |
Hemizygous |
FRANCE |
DMD |
111 |
|
p.Gln194X |
c.580C>T |
7 |
194 |
Actin binding domain |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2285 |
---174-0-31 | Male |
Hemizygous |
FRANCE |
Pending |
114 |
|
p.Arg195X |
c.583C>T |
7 |
195 |
Actin binding domain |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2245 |
---044-1-m1 | Male |
Hemizygous |
FRANCE |
BMD |
114 |
2835 |
---100-4-11 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Tyr205X |
c.615T>A |
7 |
205 |
Actin binding domain |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
679 |
---551-0-1 | Male |
Hemizygous |
INDIA |
DMD |
10 |
|
p.Gln249X |
c.745C>T |
8 |
249 |
|
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2270 |
---142-D-11 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
p.Arg295X |
c.883C>T |
9 |
295 |
CRD-hinge region #1 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2929 |
---125-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
p.Tyr301X |
c.903C>A |
9 |
301 |
CRD-hinge region #1 |
|
Small rearrangement |
Tv |
C->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2362 |
---243-3-71 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Gln303X |
c.907C>T |
9 |
303 |
CRD-hinge region #1 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3091 |
---178-0-1 | Male |
Hemizygous |
- |
BMD |
1 |
|
p.Ser319X |
c.956C>G |
9 |
319 |
CRD-hinge region #1 |
|
Small rearrangement |
Tv |
C->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1415 |
---159-9-81 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Leu322X |
c.965T>A |
10 |
322 |
CRD-hinge region #1 |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3037 |
---088-0-2 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
p.Glu326X |
c.976G>T |
10 |
326 |
CRD-hinge region #1 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3550 |
---058-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Ser329X |
c.986C>G |
10 |
329 |
CRD |
|
Small rearrangement |
Tv |
C->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3094 |
---026-0-1 | Male |
Hemizygous |
- |
DMD |
1 |
|
p.Ser333X |
c.998C>A |
10 |
333 |
CRD |
|
Small rearrangement |
Tv |
C->A |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1297 |
---280-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
1298 |
---280-1-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Gln365X |
c.1093C>T |
10 |
365 |
CRD-repeat #1 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1416 |
---163-9-51 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Gly403X |
c.1207G>T |
11 |
403 |
CRD-repeat #1 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3477 |
---949-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Lys411X |
c.1231A>T |
11 |
411 |
CRD-repeat #1 |
|
Small rearrangement |
Tv |
A->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3476 |
---722-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Ser413X |
c.1238C>A |
11 |
413 |
CRD-repeat #1 |
|
Small rearrangement |
Tv |
C->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2269 |
---137-0-11 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
p.Gln421X |
c.1261C>T |
11 |
421 |
CRD-repeat #1 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2251 |
---072-0-31 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
p.Ser429X |
c.1286C>G |
11 |
429 |
CRD-repeat #1 |
|
Small rearrangement |
Tv |
C->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3061 |
---760-0-1 | Male |
Hemizygous |
- |
DMD |
1 |
|
p.Trp431X |
c.1292G>A |
11 |
431 |
CRD-repeat #1 |
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
709 |
---505-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
p.Trp431X |
c.1293G>A |
11 |
431 |
CRD-repeat #1 |
|
Small rearrangement |
Ts |
G->A |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2355 |
---360-8-51 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
3213 |
---802-0-2 | Female |
Heterozygous |
- |
Symptomatic carrier |
1 |
|
p.Trp463X |
c.1388G>A |
12 |
463 |
CRD-repeat #2 |
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1417 |
---189-2-71 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Gln492X |
c.1474C>T |
12 |
492 |
CRD-repeat #2 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3484 |
---364-0-2 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
1 |
|
p.Arg539X |
c.1615C>T |
14 |
539 |
CRD-repeat #2 |
|
Small rearrangement |
Ts |
C->T |
4 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1418 |
---236-3-11 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
2644 |
---236-7-92 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
106 |
2238 |
---023-A-41 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
2239 |
---023-A-81 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
p.Trp551X |
c.1653G>A |
14 |
551 |
CRD-repeat #2 |
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3452 |
---935-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Trp561X |
c.1683G>A |
14 |
561 |
CRD-repeat #3 |
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3030 |
---802-0-1 | Male |
Hemizygous |
SPAIN |
DMD |
10 |
|
p.Leu606X |
c.1817T>G |
16 |
606 |
CRD-repeat #3 |
|
Small rearrangement |
Tv |
T->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3087 |
---772-0-1 | Male |
Hemizygous |
- |
DMD |
1 |
|
p.Gln664X |
c.1990C>T |
16 |
664 |
CRD-repeat #3 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3034 |
---800-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
p.Gln667X |
c.1999C>T |
17 |
667 |
CRD-repeat #3 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3103 |
---272-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Gln673X |
c.2017C>T |
17 |
673 |
CRD-hinge region #2 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2710 |
---822-4-8081 | Male |
Hemizygous |
FRANCE |
DMD |
116 |
|
p.Gln713X |
c.2137C>T |
17 |
713 |
CRD-hinge region #2 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3271 |
---921-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Gln743X |
c.2227C>T |
18 |
743 |
CRD-repeat #4 |
|
Small rearrangement |
Ts |
C->T |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2255 |
---077-0-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
2913 |
---104-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
2915 |
---104-0-2 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
1 |
|
p.Glu761X |
c.2281G>T |
18 |
761 |
CRD-repeat #4 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1642 |
---083-5-71 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
p.Arg768X |
c.2302C>T |
19 |
768 |
CRD-repeat #4 |
|
Small rearrangement |
Ts |
C->T |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1419 |
---259-5-41 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
1506 |
---037-0-31 | Male |
Hemizygous |
FRANCE |
DMD |
111 |
3549 |
---449-0-2 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
1 |
|
p.Glu772X |
c.2314G>T |
19 |
772 |
CRD-repeat #4 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2766 |
---511-5-11 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
p.Gln790X |
c.2368C>T |
19 |
790 |
CRD-repeat #4 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2268 |
---130-E-21 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
p.Gln803X |
c.2407C>T |
20 |
803 |
CRD-repeat #4 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3067 |
---825-0-1 | Male |
Hemizygous |
- |
DMD |
1 |
|
p.Gln841X |
c.2521C>T |
20 |
841 |
CRD-repeat #5 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1039 |
---573-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
p.Gln844X |
c.2530C>T |
20 |
844 |
CRD-repeat #5 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3115 |
---836-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Leu853X |
c.2558T>A |
20 |
853 |
CRD-repeat #5 |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1420 |
---239-4-11 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Gly901X |
c.2701G>T |
21 |
901 |
CRD-repeat #5 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
961 |
---554-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
p.Gln945X |
c.2833C>T |
22 |
945 |
CRD-repeat #6 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2383 |
---309-7-21 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
p.Gln957X |
c.2869C>T |
22 |
957 |
CRD-repeat #6 |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2295 |
---192-8-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
2534 |
---424-1-91 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
p.Gln990X |
c.2968C>T |
23 |
990 |
CRD-repeat #6 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2771 |
---262-3-11 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
p.Tyr997X |
c.2991C>G |
23 |
997 |
CRD-repeat #6 |
|
Small rearrangement |
Tv |
C->G |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2256 |
---080-6-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
2257 |
---080-6-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
p.Glu1021X |
c.3061G>T |
23 |
1021 |
CRD-repeat #6 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2361 |
---211-3-61 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Glu1026X |
c.3076G>T |
23 |
1026 |
CRD-repeat #6 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3295 |
---756-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Arg1051X |
c.3151C>T |
23 |
1051 |
CRD-repeat #7 |
|
Small rearrangement |
Ts |
C->T |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1655 |
---316-7-41 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
3386 |
---128-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3425 |
---166-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Gln1113X |
c.3337C>T |
25 |
1113 |
CRD-repeat #7 |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3070 |
---785-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
3072 |
---785-0-2 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
1 |
|
p.Glu1133X |
c.3397G>T |
25 |
1133 |
CRD-repeat #7 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1584 |
---200-1-31 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
p.Gln1143X |
c.3427C>T |
25 |
1143 |
CRD-repeat #7 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1422 |
---154-9-61 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Glu1179X |
c.3535G>T |
26 |
1179 |
CRD-repeat #8 |
|
Small rearrangement |
Tv |
G->T |
5 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2626 |
---442-2-71 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
3104 |
---113-1-1 | Male |
Hemizygous |
FRANCE |
Pending |
1 |
3105 |
---113-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3397 |
---113-2-1 | Male |
Hemizygous |
FRANCE |
Pending |
1 |
3398 |
---113-3-1 | Male |
Hemizygous |
FRANCE |
Pending |
1 |
|
p.Gln1194X |
c.3580C>T |
26 |
1194 |
CRD-repeat #8 |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2273 |
---146-A-11 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
3201 |
---916-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Leu1236X |
c.3707T>A |
27 |
1236 |
CRD-repeat #8 |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3406 |
---113-0-2 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
1 |
|
p.Trp1249X |
c.3746G>A |
27 |
1249 |
CRD-repeat #8 |
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1615 |
---317-7-21 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
p.Tyr1274X |
c.3822C>A |
28 |
1274 |
CRD-repeat #9 |
|
Small rearrangement |
Tv |
C->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3068 |
---620-0-1 | Male |
Hemizygous |
- |
BMD |
1 |
|
p.Leu1312X |
c.3935T>A |
29 |
1312 |
CRD-repeat #9 |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1590 |
---212-2-21 | Male |
Hemizygous |
FRANCE |
BMD |
106 |
|
p.Arg1314X |
c.3940C>T |
29 |
1314 |
CRD-repeat #9 |
|
Small rearrangement |
Ts |
C->T |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2656 |
---346-4-31 | Male |
Hemizygous |
FRANCE |
Pending |
106 |
1629 |
---346-8-71 | Male |
Hemizygous |
FRANCE |
BMD |
106 |
728 |
---357-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
p.Gln1362X |
c.4084C>T |
30 |
1362 |
CRD-repeat #9 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3141 |
---520-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Gln1370X |
c.4108C>T |
30 |
1370 |
CRD-repeat #10 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1423 |
---223-3-71 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Gln1383X |
c.4147C>T |
30 |
1383 |
CRD-repeat #10 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2022 |
---380-9-41 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
p.Leu1417X |
c.4250T>A |
31 |
1417 |
CRD-repeat #10 |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1575 |
---182-0-61 | Male |
Hemizygous |
FRANCE |
BMD |
124 |
|
p.Gln1432X |
c.4294C>T |
31 |
1432 |
CRD-repeat #10 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3121 |
---849-0-1 | Male |
Hemizygous |
- |
BMD |
1 |
|
p.Tyr1509X |
c.4527T>A |
33 |
1509 |
CRD-repeat #11 |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3120 |
---804-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Lys1571X |
c.4711A>T |
34 |
1571 |
CRD-repeat #12 |
|
Small rearrangement |
Tv |
A->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2277 |
---150-A-11 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
2278 |
---150-A-21 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
p.Lys1575X |
c.4723A>T |
34 |
1575 |
CRD-repeat #12 |
|
Small rearrangement |
Tv |
A->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3401 |
---963-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Arg1577X |
c.4729C>T |
34 |
1577 |
CRD-repeat #12 |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2647 |
---429-1-81 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
2291 |
---185-6-MA1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
p.Glu1593X |
c.4777G>T |
34 |
1593 |
CRD-repeat #12 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1424 |
---116-7-91 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Gln1618X |
c.4852C>T |
35 |
1618 |
CRD-repeat #12 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2261 |
---092-8-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
p.Gln1624X |
c.4870C>T |
35 |
1624 |
CRD-repeat #12 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2276 |
---149-B-21 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
p.Lys1652X |
c.4954A>T |
35 |
1652 |
CRD-repeat #12 |
|
Small rearrangement |
Tv |
A->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3293 |
---943-0-1 | Male |
Hemizygous |
INDIA |
DMD |
1 |
|
p.Arg1666X |
c.4996C>T |
35 |
1666 |
CRD-repeat #12 |
|
Small rearrangement |
Ts |
C->T |
6 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1425 |
---275-5-81 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
1426 |
---057-3-61 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
2252 |
---074-0-71 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
3153 |
---060-2-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3393 |
---060-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
2403 |
---060-1-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Trp1694X |
c.5082G>A |
36 |
1694 |
CRD-repeat #13 |
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3443 |
---015-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Arg1763X |
c.5287C>T |
37 |
1763 |
CRD-repeat #13 |
|
Small rearrangement |
Ts |
C->T |
4 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1710 |
---C16-8-6261 | Male |
Hemizygous |
FRANCE |
Pending |
116 |
963 |
---479-0-1 | Male |
Hemizygous |
- |
BMD |
1 |
1771 |
---036-0-1 | Male |
Hemizygous |
- |
BMD |
1 |
3396 |
---324-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
p.Lys1772X |
c.5314A>T |
37 |
1772 |
CRD-repeat #13 |
|
Small rearrangement |
Tv |
A->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1427 |
---158-9-31 | Male |
Hemizygous |
FRANCE |
Pending |
100 |
|
p.Gln1803X |
c.5407C>T |
38 |
1803 |
CRD-repeat #14 |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2450 |
---392-0-21 | Male |
Hemizygous |
FRANCE |
BMD |
106 |
2840 |
---841-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
p.Leu1827X |
c.5480T>A |
39 |
1827 |
CRD-repeat #14 |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2762 |
---461-3-91 | Male |
Hemizygous |
FRANCE |
BMD |
106 |
|
p.Arg1844X |
c.5530A>T |
39 |
1844 |
CRD-repeat #14 |
|
Small rearrangement |
Tv |
A->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1669 |
---384-9-81 | Male |
Hemizygous |
FRANCE |
Pending |
106 |
3252 |
---787-0-1 | Male |
Hemizygous |
SWITZERLAND |
DMD |
1 |
|
p.Gln1851X |
c.5551C>T |
39 |
1851 |
CRD-repeat #14 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3404 |
---312-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Lys1870X |
c.5608A>T |
40 |
1870 |
CRD-repeat #14 |
|
Small rearrangement |
Tv |
A->T |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2695 |
---479-5-91 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
3148 |
---851-0-2 | Female |
Heterozygous |
- |
Symptomatic carrier |
1 |
3451 |
---823-0-1 | Male |
Hemizygous |
GERMANY |
DMD |
1 |
|
p.Trp1879X |
c.5637G>A |
40 |
1879 |
CRD-repeat #15 |
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
681 |
---547-0-1 | Male |
Hemizygous |
U.S.A. |
DMD |
10 |
|
p.Gln1885X |
c.5653C>T |
40 |
1885 |
CRD-repeat #15 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2579 |
---383-9-71 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
p.Arg1967X |
c.5899C>T |
41 |
1967 |
CRD-repeat #15 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1666 |
---308-6-71 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
p.Gln2080X |
c.6238C>T |
43 |
2080 |
CRD-repeat #16 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
683 |
---448-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
p.Trp2085X |
c.6255G>A |
43 |
2085 |
CRD-repeat #16 |
|
Small rearrangement |
Ts |
G->A |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2244 |
---043-B-71 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
3342 |
---948-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Tyr2092X |
c.6276C>G |
43 |
2092 |
CRD-repeat #16 |
|
Small rearrangement |
Tv |
C->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1428 |
---196-1-71 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Arg2095X |
c.6283C>T |
43 |
2095 |
CRD-repeat #16 |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1429 |
---269-6-51 | Male |
Hemizygous |
FRANCE |
Pending |
100 |
670 |
---287-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
|
p.Arg2098X |
c.6292C>T |
44 |
2098 |
CRD-repeat #16 |
|
Small rearrangement |
Ts |
C->T |
4 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2712 |
---486-4-01 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
1724 |
---385-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
3338 |
---913-0-1 | Male |
Hemizygous |
BRAZIL |
DMD |
1 |
3540 |
---786-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Glu2122X |
c.6364G>T |
44 |
2122 |
CRD-repeat #17 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
794 |
---430-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
p.Gln2245X |
c.6733C>T |
46 |
2245 |
CRD-repeat #18 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3112 |
---248-0-1 | Male |
Hemizygous |
- |
DMD |
1 |
|
p.Glu2248X |
c.6742G>T |
46 |
2248 |
CRD-repeat #18 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
677 |
---125-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
|
p.Leu2256X |
c.[6766C>T; 6767T>A] |
47 |
2256 |
CRD-repeat #18 |
|
Small rearrangement |
Ts/Tv |
C->T/T->A |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3294 |
---101-0-1 | Male |
Hemizygous |
ALGERIA |
DMD |
1 |
3310 |
---101-1-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Lys2294X |
c.6880A>T |
47 |
2294 |
CRD-repeat #18 |
|
Small rearrangement |
Tv |
A->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1430 |
---247-4-71 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Leu2337X |
c.7010T>G |
48 |
2337 |
CRD-repeat #19 |
|
Small rearrangement |
Tv |
T->G |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1577 |
---185-0-31 | Male |
Hemizygous |
SPAIN |
DMD |
106 |
|
p.Glu2369X |
c.7105G>T |
49 |
2369 |
CRD-repeat #19 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
675 |
---552-0-1 | Male |
Hemizygous |
FRANCE |
BMD |
1 |
|
p.Glu2460X |
c.7378G>T |
51 |
2460 |
CRD-hinge region #3 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2867 |
---169-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Gln2522X |
c.7564C>T |
52 |
2522 |
CRD-repeat #20 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1431 |
---110-6-61 | Male |
Hemizygous |
FRANCE |
DMD |
105 |
|
p.Arg2553X |
c.7657C>T |
52 |
2553 |
CRD-repeat #20 |
|
Small rearrangement |
Ts |
C->T |
6 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2586 |
---033-3-m2 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
114 |
2281 |
---160-9-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
1611 |
---284-5-61 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
2991 |
---737-0-1 | Male |
Hemizygous |
SPAIN |
DMD |
1 |
1643 |
---463-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
3266 |
---050-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Leu2579X |
c.7736T>A |
53 |
2579 |
CRD-repeat #21 |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1483 |
---297-6-31 | Male |
Hemizygous |
BELGIUM |
DMD |
106 |
|
p.Trp2670X |
c.8009G>A |
54 |
2670 |
CRD-repeat #21 |
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3302 |
---097-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Arg2680X |
c.8038C>T |
55 |
2680 |
CRD-repeat #21 |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1432 |
---272-5-61 | Male |
Hemizygous |
AUSTRALIA |
DMD |
100 |
1031 |
---521-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
p.Gln2692X |
c.8074C>T |
55 |
2692 |
CRD-repeat #22 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2539 |
---413-2-61 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
p.Glu2726X |
c.8176G>T |
55 |
2726 |
CRD-repeat #22 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1433 |
---147-9-31 | Male |
Hemizygous |
FRANCE |
DMD |
105 |
|
p.Trp2738X |
c.8214G>A |
55 |
2738 |
CRD-repeat #22 |
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1612 |
---285-6-81 | Male |
Hemizygous |
FRANCE |
Pending |
106 |
|
p.Trp2807X |
c.8420G>A |
57 |
2807 |
CRD-repeat #23 |
|
Small rearrangement |
Ts |
G->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
689 |
---593-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
p.Arg2870X |
c.8608C>T |
58 |
2870 |
CRD-repeat #23 |
|
Small rearrangement |
Ts |
C->T |
5 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2300 |
---217-2-A1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
2745 |
---100-8-81 | Male |
Hemizygous |
FRANCE |
DMD |
112 |
2746 |
---100-0-21 | Male |
Hemizygous |
FRANCE |
DMD |
112 |
3162 |
---048-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
2852 |
---176-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Gln2898X |
c.8692C>T |
59 |
2898 |
CRD-repeat #23 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3029 |
---736-0-2 | Female |
Heterozygous |
- |
Symptomatic carrier |
1 |
|
p.Arg2905X |
c.8713C>T |
59 |
2905 |
CRD-repeat #23 |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2584 |
---106-3-m2 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
114 |
2260 |
---089-7-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
|
p.Gln2907X |
c.8719C>T |
59 |
2907 |
CRD-repeat #23 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2872 |
---057-0-1 | Male |
Hemizygous |
FRANCE |
IMD |
1 |
|
p.Glu2910X |
c.8728G>T |
59 |
2910 |
CRD-repeat #23 |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3018 |
---111-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
|
p.Gln2937X |
c.8809C>T |
59 |
2937 |
CRD-repeat #24 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3421 |
---956-0-1 | Male |
Hemizygous |
ISRAEL |
DMD |
1 |
|
p.Gln2972X |
c.8914C>T |
59 |
2972 |
CRD-repeat #24 |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1434 |
---089-6-51 | Male |
Hemizygous |
FRANCE |
DMD |
102 |
2540 |
---393-9-41 | Male |
Hemizygous |
FRANCE |
Pending |
106 |
|
p.Arg2982X |
c.8944C>T |
60 |
2982 |
CRD-repeat #24 |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2613 |
---489-4-31 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
960 |
---633-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
p.Gln3050X |
c.9148C>T |
61 |
3050 |
CRD-hinge region #4 |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1435 |
---273-6-21 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Tyr3072X |
c.9216C>A |
62 |
3072 |
CRD-hinge region #4 |
|
Small rearrangement |
Tv |
C->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3086 |
---147-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Arg3113X |
c.9337C>T |
64 |
3113 |
Cystein-rich domain |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
695 |
---229-0-1 | Male |
Hemizygous |
ARGENTINA |
DMD |
1 |
3013 |
---242-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
|
p.Gln3116X |
c.9346C>T |
64 |
3116 |
Cystein-rich domain |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2751 |
---106-0-61 | Male |
Hemizygous |
FRANCE |
DMD |
112 |
2752 |
---106-0-71 | Male |
Hemizygous |
FRANCE |
DMD |
112 |
|
p.Gln3135X |
c.9403C>T |
65 |
3135 |
Cystein-rich domain |
|
Small rearrangement |
Ts |
C->T |
3 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3027 |
---319-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3058 |
---319-2-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3251 |
---319-1-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Gln3149X |
c.9445C>T |
65 |
3149 |
Cystein-rich domain |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1436 |
---181-0-52 | Female |
Heterozygous |
FRANCE |
DMD |
100 |
1437 |
---181-1-71 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
|
p.Arg3190X |
c.9568C>T |
66 |
3190 |
Cystein-rich domain |
|
Small rearrangement |
Ts |
C->T |
13 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1438 |
---103-6-31 | Male |
Hemizygous |
FRANCE |
DMD |
103 |
1439 |
---093-6-01 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
1505 |
---029-1-61 | Male |
Hemizygous |
FRANCE |
DMD |
111 |
2286 |
---176-9-MA1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
2287 |
---176-1-MA1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
1702 |
---151-1-1621 | Male |
Hemizygous |
FRANCE |
DMD |
116 |
1708 |
---223-6-5501 | Male |
Hemizygous |
FRANCE |
DMD |
116 |
1709 |
---223-6-4591 | Male |
Hemizygous |
FRANCE |
DMD |
120 |
1744 |
---216-9-3671 | Male |
Hemizygous |
FRANCE |
DMD |
120 |
705 |
---446-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
858 |
---494-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
3247 |
---919-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3370 |
---220-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Tyr3217X |
c.9651C>A |
66-67 |
3217 |
Cystein-rich domain |
|
Small rearrangement |
Tv |
C->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3130 |
---662-0-2 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
1 |
|
p.Gln3231X |
c.9691C>T |
67 |
3231 |
Cystein-rich domain |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3025 |
---624-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
|
p.Arg3345X |
c.10033C>T |
69 |
3345 |
Carboxy-terminal region |
|
Small rearrangement |
Ts |
C->T |
2 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1758 |
---219-4-3791 | Male |
Hemizygous |
FRANCE |
DMD |
120 |
652 |
---289-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
|
p.Arg3370X |
c.10108C>T |
70 |
3370 |
Carboxy-terminal region |
|
Small rearrangement |
Ts |
C->T |
7 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1440 |
---191-1-71 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
2602 |
---191-1-82 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
106 |
2655 |
---445-4-41 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
657 |
---346-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
3155 |
---045-1-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3204 |
---895-0-2 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
1 |
2419 |
---045-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Lys3379X |
c.10135A>T |
70 |
3379 |
Carboxy-terminal region |
|
Small rearrangement |
Tv |
A->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3016 |
---574-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
|
p.Arg3381X |
c.10141C>T |
70 |
3381 |
Carboxy-terminal region |
|
Small rearrangement |
Ts |
C->T |
10 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1441 |
---100-6-61 | Male |
Hemizygous |
FRANCE |
DMD |
105 |
2348 |
---400-0-71 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
2640 |
---379-1-81 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
2670 |
---734-0-651 | Male |
Hemizygous |
FRANCE |
DMD |
116 |
1751 |
---204-7-4531 | Male |
Hemizygous |
FRANCE |
DMD |
116 |
1755 |
---204-7-3171 | Male |
Hemizygous |
FRANCE |
DMD |
119 |
3135 |
---489-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3316 |
---946-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
3317 |
---946-0-2 | Female |
Heterozygous |
FRANCE |
Symptomatic carrier |
1 |
2880 |
---101-8-11 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Arg3391X |
c.10171C>T |
70 |
3391 |
Carboxy-terminal region |
|
Small rearrangement |
Ts |
C->T |
12 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1442 |
---115-7-61 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
1443 |
---205-4-71 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
1444 |
---174-2-91 | Male |
Hemizygous |
FRANCE |
DMD |
100 |
2263 |
---107-5-m1 | Male |
Hemizygous |
FRANCE |
DMD |
114 |
1698 |
---233-5-4341 | Male |
Hemizygous |
FRANCE |
DMD |
120 |
653 |
---095-0-1 | Male |
Hemizygous |
- |
DMD |
10 |
654 |
---099-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
655 |
---099-1-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
656 |
---099-2-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
2791 |
---521-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
2947 |
---521-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
10 |
3164 |
---131-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|
p.Gln3427X |
c.10279C>T |
72 |
3427 |
Carboxy-terminal region |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
680 |
---429-0-1 | Male |
Hemizygous |
- |
BMD |
1 |
|
p.Tyr3454X |
c.10362T>A |
73 |
3454 |
Carboxy-terminal region |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1770 |
---662-0-1 | Male |
Hemizygous |
- |
BMD |
1 |
|
p.Glu3463X |
c.10387G>T |
73 |
3463 |
Carboxy-terminal region |
|
Small rearrangement |
Tv |
G->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2271 |
---144-4-MA1 | Male |
Hemizygous |
FRANCE |
Pending |
114 |
|
p.Leu3471X |
c.10412T>A |
74 |
3471 |
Carboxy-terminal region |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1580 |
---193-1-71 | Male |
Hemizygous |
FRANCE |
BMD |
124 |
|
p.Tyr3524X |
c.10572T>A |
75 |
3524 |
Carboxy-terminal region |
|
Small rearrangement |
Tv |
T->A |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1670 |
---245-4-21 | Male |
Hemizygous |
FRANCE |
DMD |
106 |
|
p.Gln3589X |
c.10765C>T |
75 |
3589 |
Carboxy-terminal region |
|
Small rearrangement |
Ts |
C->T |
1 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
1637 |
---350-8-71 | Male |
Hemizygous |
FRANCE |
Pending |
106 |
|
p.Ser3637X |
c.10910C>A |
76 |
3637 |
Carboxy-terminal region |
|
Small rearrangement |
Tv |
C->A |
4 |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
2350 |
---387-9-11 | Male |
Hemizygous |
FRANCE |
BMD |
106 |
2351 |
---387-1-71 | Male |
Hemizygous |
FRANCE |
BMD |
106 |
1000 |
---665-0-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
1094 |
---665-1-1 | Male |
Hemizygous |
FRANCE |
DMD |
1 |
|