Screening of patients diagnosed for hyperekplexia
| Localization | Nomenclature | Type of mutation | Missense/silent | Frequency | Disease | SNV number | Identification |
|---|---|---|---|---|---|---|---|
| 5′ UTR, Exon 1 | c.−23C>A | SNV | 1/51 | Hyperekplexia | Own study | ||
| Intron 2 | c.356 + 138G>C | SNV | 6/51 | Hyperekplexia | Own study | ||
| Intron 2 | c.356 + 162C>G | SNV | 1/51 | Hyperekplexia | Own study | ||
| Intron 3 | c.508 + 51T>C | SNV, common | 37/51 | Hyperekplexia | Own study | ||
| Intron 4 | c.634 + 48C>G | SNV | 8/51 | Hyperekplexia | Own study | ||
| Intron 5 | c.788 + 95G>A | SNV, common | 39/51 | Hyperekplexia | Own study | ||
| Intron 6 | c.913-25T>C | SNV, splice site | 10/51 (0.1960) | Hyperekplexia | Own study | ||
| Intron 6 | c.913-11T>C | SNV, splice site | 35/51 (0.68) | Hyperekplexia | Own study | ||
| c.913-4C>A | SNV, splice site | 0.0000008 | No association | rs747357569 | gnomAD | ||
| c.913-5C>T | SNV, splice site | 0.00003186 | No association | rs372803928 | gnomAD | ||
| c.913-7C>T | SNV, splice site | 0.0000008 | No association | rs756877434 | gnomAD | ||
| c.913-8C>T | SNV, splice site | 0.0000008 | No association | rs527258250 | gnomAD | ||
| c.913-2_915delAGACC | SNV, splice acceptor site | 0.000003979 | No association | rs1296796950 | gnomAD | ||
| Exon 7 | c.919G>A | Missense | G307R | 1/51 | Hyperekplexia | Own study | |
| c.920G>A | Missense | G307E | single case | No association | rs1395052005 | gnomAD, ClinVar | |
| Exon 9 | c.1158G>A | Synonymous | T386T | 2/51 (0.039) | Hyperekplexia | Own study | |
| c.1158G>A | Synonymous | T386T | 0.0126–0.01149 | No association | rs2303094 | gnomAD | |
| c.1157C>T | Missense | T386M | 0.0000008 | No association | rs762156060 | gnomAD | |
| c.1156A>C | Missense | T386P | 0.000004025 | No association | rs772026103 | gnomAD | |
| c.1156A>G | Missense | T386A | 0.0000008 | No association | rs772026104 | gnomAD | |
| Exon 10 | c.1374G>T | Synonymous | T458T | 3/51 (0.058) | Hyperekplexia | Own study | |
| c.1374G>T | Synonymous | T458T | 0.045–0.055 | No association | rs2303094 | gnomAD | |
| c.1374G>C | Synonymous | T458T | 0.00003580 | No association | rs2303094 | gnomAD | |
| c.1374G>A | Synonymous | T458T | 0.00002829 | No association | rs2303094 | gnomAD | |
| c.1374G>GT | Frameshift | Thr458AsnfsTer71 | 0.00001193 | No association | rs750357075 | gnomAD | |
| 3′ UTR, exon 11 | c.*131_132insT | Common insertion, frameshift | 45/51 | Hyperekplexia | Own study | ||
| 3′ UTR, exon 11 | c.*188C>T | SNV | 3/51 | Hyperekplexia | Own study | ||
| 3′ UTR, exon 11 | c.*262T>C | SNV, common | 39/51 | Hyperekplexia | Own study |
SNV, single nucleotide variation; UTR, untranslated region. Bold content refers to missense mutation of own study.