| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Deletion (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Duplication (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | CHRNE, LOC130060041 (P358fs) | Duplication (frameshift variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Deletion (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Duplication (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | CHRNE, LOC130060041 (S356F) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myasthenic syndrome 4A | |
| | CHRNE, LOC130060041 (A362D) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |