| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form | |
| | LOC123956257, CLCN1 (K680*) | Single nucleotide variant (nonsense +1 more) | Congenital myotonia, autosomal dominant form | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myotonia, autosomal dominant form | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | CLCN1, LOC123956257 (L660fs) | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Deletion (splice acceptor variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |