| Gene symbol |
Gene name |
Total variants |
Unique variants |
Patients |
| ACTA1 |
ACTin, Alpha 1 (skeletal muscle) |
345 |
206 |
321 |
| ACTC1 |
actin, alpha, cardiac muscle 1 |
140 |
17 |
140 |
| AGRN |
Agrin |
32 |
24 |
7 |
| ANO5 |
Anoctamin 5 |
160 |
37 |
83 |
| BAG3 |
BCL2-associated athanogene 3 |
18 |
10 |
18 |
| BIN1 |
Bridging INtegrator 1 |
70 |
38 |
13 |
| CAPN3 |
Calpain-3 |
2747 |
464 |
1668 |
| CAV3 |
Caveolin-3 |
444 |
65 |
415 |
| CFL2 |
Cofilin 2 |
35 |
10 |
25 |
| CHAT |
Choline O-acetyltransferase |
76 |
25 |
38 |
| CHKB |
Choline kinase beta |
35 |
11 |
19 |
| CHRNA1 |
cholinergic receptor, nicotinic, alpha 1 (muscle) |
200 |
13 |
177 |
| CHRNB1 |
Cholinergic receptor, nicotinic, beta 1 (muscle) |
124 |
17 |
100 |
| CHRND |
Cholinergic receptor, nicotinic, delta |
187 |
18 |
164 |
| CHRNE |
Cholinergic receptor, nicotinic, epsilon |
272 |
64 |
145 |
| CNTN1 |
Contactin 1 |
8 |
1 |
4 |
| COL6A1 |
collagen type VI alpha 1 |
132 |
51 |
104 |
| COL6A2 |
collagen type VI alpha 2 |
172 |
64 |
68 |
| COL6A3 |
collagen type VI alpha 3 |
224 |
52 |
47 |
| COLQ |
Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase |
193 |
54 |
94 |
| CRYAB |
Crystallin, alpha-B |
95 |
20 |
83 |
| DAG1 |
Dystrophin-Associated Glycoprotein 1 |
19 |
14 |
7 |
| DES |
Desmin |
279 |
55 |
268 |
| DMD |
Duchenne Muscular Dystrophy |
25246 |
2563 |
23790 |
| DMD_d |
Duchenne Muscular Dystrophy (whole exon changes) |
9054 |
1336 |
8694 |
| DNM2 |
dynamin 2 |
126 |
21 |
128 |
| DOK7 |
Docking protein 7 |
306 |
58 |
168 |
| DPM3 |
Dolichyl-Phosphate Mannosyltransferase polypeptide 3 |
5 |
3 |
3 |
| DTNA |
Dystrobrevin alpha |
1 |
1 |
1 |
| DYSF |
Dysferlin |
2138 |
451 |
1189 |
| EMD |
Emery-Dreifuss muscular dystrophy (emerin) |
216 |
105 |
221 |
| FHL1 |
Four and a Half LIM domains 1 |
70 |
20 |
70 |
| FKRP |
Fukutin-Related Protein |
974 |
149 |
494 |
| FKTN |
Fukutin |
556 |
55 |
340 |
| FLNC |
Filamin C |
36 |
3 |
36 |
| GFPT1 |
Glutamine-fructose-6-phosphate transaminase 1 |
73 |
28 |
37 |
| GK |
Glycerol Kinase |
175 |
33 |
116 |
| GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
676 |
85 |
341 |
| IGHMBP2 |
Immunoglobulin mu binding protein 2 |
172 |
82 |
69 |
| ISCU |
Iron-Sulfur cluster scaffold homolog (E. coli) |
72 |
2 |
38 |
| ITGA7 |
Integrin, alpha 7 |
153 |
19 |
115 |
| KBTBD13 |
Kelch repeat and BTB (POZ) domain containing 13 |
59 |
8 |
59 |
| LAMA2 |
Laminin-alpha 2 (merosin) |
1364 |
312 |
902 |
| LAMP2 |
Lysosomal-associated membrane protein 2 |
95 |
5 |
93 |
| LARGE |
LARGE like-glycosyltransferase |
40 |
29 |
30 |
| LDB3 |
LIM domain binding 3 (ZASP) |
101 |
16 |
82 |
| LMNA |
Lamin A/C |
3518 |
258 |
983 |
| MATR3 |
Matrin 3 |
123 |
3 |
69 |
| MSTN |
Myostatin |
312 |
26 |
275 |
| MTM1 |
Myotubularin 1 |
468 |
268 |
465 |
| MTMR14 |
Myotubularin related protein 14 |
36 |
29 |
36 |
| MUSK |
muscle, skeletal, receptor tyrosine kinase |
136 |
9 |
126 |
| MYBPC3 |
Myosin binding protein C, cardiac |
1 |
1 |
1 |
| MYH7 |
myosin, heavy chain 7, cardiac muscle, beta |
0 |
0 |
0 |
| MYL2 |
myosin, light chain 2, regulatory, cardiac, slow |
11 |
10 |
10 |
| MYL3 |
myosin, light chain 3, alkali; ventricular, skeletal, slow |
9 |
9 |
9 |
| MYOT |
Myotilin (Titin immunoglobulin domain) |
133 |
18 |
129 |
| NEB |
Nebulin |
239 |
98 |
137 |
| PABPN1 |
PolyA binding protein, nuclear 1 |
511 |
17 |
500 |
| PLEC |
Plectin |
24 |
1 |
12 |
| POMGNT1 |
Protein O-linked Mannose beta1,2-N-acetylGlucosaminylTransferase |
209 |
59 |
110 |
| POMT1 |
Protein O-Mannosyltransferase 1 |
352 |
115 |
177 |
| POMT2 |
Protein O-Mannosyltransferase 2 |
132 |
72 |
73 |
| PTRF |
Polymerase I and Transcript Release Factor (cavin-1) |
42 |
3 |
34 |
| RAPSN |
Receptor-associated protein of the synapse |
996 |
61 |
389 |
| RYR1 |
RYanodine Receptor 1 (skeletal) |
2056 |
403 |
1878 |
| SEPN1 |
Selenoprotein 1 |
1260 |
99 |
1059 |
| SGCA |
Sarcoglycan-alpha |
735 |
112 |
478 |
| SGCB |
Sarcoglycan-beta |
348 |
79 |
247 |
| SGCD |
Sarcoglycan-delta |
519 |
34 |
410 |
| SGCE |
Sarcoglycan-epsilon |
316 |
56 |
316 |
| SGCG |
Sarcoglycan-gamma |
945 |
97 |
655 |
| SGCZ |
Sarcoglycan-zeta |
16 |
14 |
56 |
| SMN1 |
Survival Motor Neuron 1 |
542 |
45 |
275 |
| SSPN |
Sarcospan |
16 |
4 |
10 |
| SYNE1 |
Spectrin repeat containing, Nuclear Envelope 1 |
163 |
27 |
94 |
| SYNE2 |
Spectrin repeat containing, Nuclear Envelope 2 |
7 |
3 |
7 |
| TCAP |
Titin-cap (telethonin) |
70 |
27 |
52 |
| TNNI2 |
Troponin I type 2 |
37 |
8 |
32 |
| TNNI3 |
Troponin I type 3 (cardiac) |
0 |
0 |
0 |
| TNNT1 |
Troponin T type 1 |
25 |
12 |
10 |
| TNNT2 |
troponin T type 2 (cardiac) |
0 |
0 |
0 |
| TNNT3 |
Troponin T type 3 |
11 |
9 |
5 |
| TPM1 |
tropomyosin 1 (alpha) |
31 |
15 |
81 |
| TPM2 |
Tropomyosin 2 |
487 |
24 |
482 |
| TPM3 |
Tropomyosin 3 |
57 |
15 |
49 |
| TRIM32 |
Tripartite motif-containing 32 |
116 |
11 |
64 |
| TTN |
Titin |
612 |
39 |
167 |
| TTR |
Transthyretin |
0 |
0 |
0 |
| VCP |
Valosin-containing protein |
158 |
8 |
158 |
| VMA21 |
VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) |
49 |
6 |
49 |
| ZMPSTE24 |
Zinc MetalloPeptidase (STE24 homolog, yeast) |
1551 |
36 |
163 |
| |
Total of 92 gene entries |
65094 |
8954 |
50793 |
