Table 3 Frequencies of variants among patients with any variant identified by the panela
Gene | Variant Frequency, n (%) | Disease | Molecular Diagnosis Frequency, n (%) (N = 335) |
|---|---|---|---|
DYSF | 468 (39.89) | LGMD R2 | 127 (37.91) |
CAPN3 | 247 (21.05) | LGMD R1 | 90 (26.87) |
ANO5 | 101 (8.61) | LGMD R12 | 20 (5.97) |
GAA | 94 (8.01) | Pompe disease | 9 (2.69) |
SGCA | 90 (7.68) | LGMD R3 | 33 (9.85) |
FKRP | 62 (5.29) | LGMD R9 | 18 (5.37) |
TCAP | 42 (3.58) | LGMD R7 | 15 (4.48) |
SGCB | 32 (2.73) | LGMD R4 | 10 (2.99) |
SGCG | 24 (2.05) | LGMD R5 | 9 (2.69) |
SGCD | 13 (1.12) | LGMD R6 | 4 (1.19) |