| Gene symbol |
Gene name |
Total variants |
Unique variants |
| ACTA1 |
ACTin, Alpha 1 (skeletal muscle) |
386 |
199 |
| AGRN |
Agrin |
32 |
24 |
| ANO5 |
Anoctamin 5 |
91 |
28 |
| BAG3 |
BCL2-associated AthanoGene 3 |
14 |
9 |
| BIN1 |
Bridging INtegrator 1 |
65 |
35 |
| CAPN3 |
Calpain-3 |
2475 |
452 |
| CAV3 |
Caveolin-3 |
508 |
64 |
| CFL2 |
Cofilin 2 |
51 |
11 |
| CNTN1 |
Contactin 1 |
0 |
0 |
| COL6A1 |
collagen type VI alpha 1 |
114 |
40 |
| COL6A2 |
collagen type VI alpha 2 |
157 |
55 |
| COL6A3 |
collagen type VI alpha 3 |
224 |
47 |
| CRYAB |
Crystallin, alpha-B |
149 |
18 |
| DAG1 |
Dystrophin-Associated Glycoprotein 1 |
10 |
10 |
| DES |
Desmin |
504 |
57 |
| DMD |
Duchenne Muscular Dystrophy |
27293 |
2476 |
| DMD_d |
Duchenne Muscular Dystrophy (whole exon changes) |
16997 |
1313 |
| DOK7 |
Docking protein 7 |
133 |
34 |
| DPM3 |
Dolichyl-Phosphate Mannosyltransferase polypeptide 3 |
0 |
0 |
| DTNA |
Dystrobrevin alpha |
1 |
1 |
| DYSF |
Dysferlin |
1685 |
415 |
| EMD |
Emery-Dreifuss muscular dystrophy (emerin) |
424 |
105 |
| FHL1 |
Four and a Half LIM domains 1 |
135 |
22 |
| FKRP |
Fukutin-Related Protein |
924 |
142 |
| FKTN |
Fukutin |
522 |
45 |
| FLNC |
Filamin C |
0 |
0 |
| GK |
Glycerol Kinase |
264 |
35 |
| GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
0 |
0 |
| ISCU |
Iron-Sulfur cluster scaffold homolog (E. coli) |
0 |
0 |
| ITGA7 |
Integrin, alpha 7 |
0 |
0 |
| LAMA2 |
Laminin-alpha 2 (merosin) |
790 |
240 |
| LAMP2 |
Lysosomal-associated membrane protein 2 |
187 |
6 |
| LARGE |
LARGE like-glycosyltransferase |
29 |
24 |
| LDB3 |
LIM domain binding 3 (ZASP) |
166 |
17 |
| LMNA |
Lamin A/C |
3533 |
250 |
| MATR3 |
Matrin 3 |
0 |
0 |
| MSTN |
Myostatin |
368 |
27 |
| MTM1 |
Myotubularin 1 |
393 |
236 |
| MTMR14 |
Myotubularin related protein 14 |
0 |
0 |
| MYOT |
Myotilin (Titin immunoglobulin domain) |
209 |
17 |
| NEB |
Nebulin |
227 |
92 |
| PABPN1 |
PolyA binding protein, nuclear 1 |
0 |
0 |
| PLEC |
Plectin |
0 |
0 |
| POMGNT1 |
Protein O-linked Mannose beta1,2-N-acetylGlucosaminylTransferase |
199 |
58 |
| POMT1 |
Protein O-Mannosyltransferase 1 |
344 |
115 |
| POMT2 |
Protein O-Mannosyltransferase 2 |
122 |
68 |
| PTRF |
Polymerase I and Transcript Release Factor (cavin-1) |
68 |
4 |
| RYR1 |
RYanodine Receptor 1 (skeletal) |
1861 |
261 |
| SEPN1 |
Selenoprotein 1 |
1069 |
59 |
| SGCA |
Sarcoglycan-alpha |
731 |
109 |
| SGCB |
Sarcoglycan-beta |
380 |
79 |
| SGCD |
Sarcoglycan-delta |
253 |
34 |
| SGCE |
Sarcoglycan-epsilon |
306 |
53 |
| SGCG |
Sarcoglycan-gamma |
918 |
95 |
| SGCZ |
Sarcoglycan-zeta |
59 |
15 |
| SMN1 |
Survival Motor Neuron 1 |
542 |
45 |
| SSPN |
Sarcospan |
16 |
4 |
| SYNE1 |
Spectrin repeat containing, Nuclear Envelope 1 |
167 |
28 |
| SYNE2 |
Spectrin repeat containing, Nuclear Envelope 2 |
12 |
4 |
| TCAP |
Titin-cap (telethonin) |
80 |
28 |
| TNNI2 |
Troponin I type 2 |
66 |
9 |
| TNNT1 |
Troponin T type 1 |
25 |
12 |
| TNNT3 |
Troponin T type 3 |
13 |
9 |
| TPM2 |
Tropomyosin 2 |
497 |
17 |
| TPM3 |
Tropomyosin 3 |
82 |
16 |
| TRIM32 |
Tripartite motif-containing 32 |
116 |
11 |
| TTN |
Titin |
612 |
35 |
| VCP |
Valosin-containing protein |
0 |
0 |
| VMA21 |
VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) |
98 |
7 |
| ZMPSTE24 |
Zinc MetalloPeptidase (STE24 homolog, yeast) |
1549 |
36 |
| |
Total of 70 gene entries |
69245 |
7757 |
