Table 7. Potential causative variants and mutations identified in the blinded clinical samples.
| Sample | Gene | Mutations/variants detected by NGS (blinded) | NGS coverage | Mutant allele % by NGS | Associated CMD sub-type |
| CMD-1 | COL6A3 | IVS14-8_-29_delTGTTTCAGGGTATTCCTGGAGAAGACGGC, (het) | 87 | 16 | UCMD |
| CMD-2 | None Detected | - | - | - | |
| CMD-3 | COL6A2 | c.1402C>T; p.R468X, (het) | 108 | 51 | UCMD |
| CMD-4 | COL6A3 | c.53C>A; p.A18X, (homo) | 111 | 94 | UCMD |
| CMD-5 | None Detected | - | - | - | |
| CMD-6 | COL6A1 | IVS21-2A>G, (het) | UCMD | ||
| CMD-7 | COL6A1 | IVS14+1G>A, (het) | 19 | 68 | UCMD |
| CMD-14 | COL6A2 | Whole Gene Deletion | - | - | UCMD |
| CMD-15 | None Detected | - | - | - | |
| CMD-16 | None Detected | - | - | - | |
| CMD-17 | None Detected | - | - | - | |
| CMD-18 | None Detected | - | - | - | |
| CMD-19 | COL6A2 | IVS24-9G>A, (het) | 14 | 21 | UCMD |
| CMD-20 | LAMA2 LAMA2 | c.652_653_delTT (het);c.2230C>T, p.R744X (het) | 6894 | 4440 | MDC1A |
| CMD-21 | None Detected | - | - | - | |
| CMD-22 | None Detected | - | - | - | |
| CMD-23 | None Detected | - | - | - | |
| CMD-24 | LAMA2 | c.1580G>A; p.C527Y, (homo) | 487 | 94 | MDC1A |
| CMD-25 | LAMA2 LAMA2 | c.4048C>T; p.R1350X, (het)c.1580G>A; p.C527Y, (het) | 96319 | 4550 | MDC1A |
| CMD-26 | None Detected | - | - | - |