| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Duplication | Bethlem myopathy 1A | |
| | | Duplication | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Duplication | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Duplication | Bethlem myopathy 1A | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Insertion (frameshift variant) | Bethlem myopathy 1A | |
| | | Duplication (frameshift variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Deletion (frameshift variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Deletion (frameshift variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | COL6A2-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | COL6A3, LOC126806573 (M2975L +4 more) | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (nonsense) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Deletion (splice acceptor variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Indel (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (splice acceptor variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |