{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA375508429", "communityStandardTitle": [ "NM_020822.3(KCNT1):c.1885A>T (p.Lys629Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.138662818A>T?assembly=hg19", "id": "chr9:g.138662818A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.135770972A>T?assembly=hg38", "id": "chr9:g.135770972A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057522978", "rs": 1057522978 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 135770972, "referenceAllele": "A", "start": 135770971 } ], "hgvs": [ "NC_000009.12:g.135770972A>T", "CM000671.2:g.135770972A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 138662818, "referenceAllele": "A", "start": 138662817 } ], "hgvs": [ "NC_000009.11:g.138662818A>T", "CM000671.1:g.138662818A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 137802639, "referenceAllele": "A", "start": 137802638 } ], "hgvs": [ "NC_000009.10:g.137802639A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 73788, "referenceAllele": "A", "start": 73787 } ], "hgvs": [ "NG_033070.1:g.73788A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005402" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1959, "referenceAllele": "A", "start": 1958 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000371757.7:c.1885A>T" ], "proteinEffect": { "hgvs": "ENSP00000360822.2:p.Lys629Ter", "hgvsWellDefined": "ENSP00000360822.2:p.Lys629_Leu1235delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750860", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371757.7:c.1885A>T" }, "RefSeq": { "hgvs": "NM_020822.3:c.1885A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360822.2:p.Lys629Ter" }, "RefSeq": { "hgvs": "NP_065873.2:p.Lys629Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1993, "referenceAllele": "A", "start": 1992 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000674572.1:c.1726A>T" ], "proteinEffect": { "hgvs": "ENSP00000501742.1:p.Lys576Ter", "hgvsWellDefined": "ENSP00000501742.1:p.Lys576_Leu1203delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774520" }, { "coordinates": [ { "allele": "T", "end": 1735, "referenceAllele": "A", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000675090.1:c.1633A>T" ], "proteinEffect": { "hgvs": "ENSP00000501833.1:p.Lys545Ter", "hgvsWellDefined": "ENSP00000501833.1:p.Lys545_Leu1151delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774959" }, { "coordinates": [ { "allele": "T", "end": 1723, "referenceAllele": "A", "start": 1722 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000675399.1:c.1633A>T" ], "proteinEffect": { "hgvs": "ENSP00000501932.1:p.Lys545Ter", "hgvsWellDefined": "ENSP00000501932.1:p.Lys545_Leu1172delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775224" }, { "coordinates": [ { "allele": "T", "end": 1726, "referenceAllele": "A", "start": 1725 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000676421.1:c.1642A>T" ], "proteinEffect": { "hgvs": "ENSP00000502322.1:p.Lys548Ter", "hgvsWellDefined": "ENSP00000502322.1:p.Lys548_Leu1175delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776104" }, { "coordinates": [ { "allele": "T", "end": 1902, "referenceAllele": "A", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000263604.5:c.1786A>T" ], "proteinEffect": { "hgvs": "ENSP00000263604.4:p.Lys596Ter", "hgvsWellDefined": "ENSP00000263604.4:p.Lys596_Leu1223delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251298" }, { "coordinates": [ { "allele": "T", "end": 1952, "referenceAllele": "A", "start": 1951 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000371757.6:c.1885A>T" ], "proteinEffect": { "hgvs": "ENSP00000360822.2:p.Lys629Ter", "hgvsWellDefined": "ENSP00000360822.2:p.Lys629_Leu1235delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268741" }, { "coordinates": [ { "allele": "T", "end": 1910, "referenceAllele": "A", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000460750.5:c.*1495A>T" ], "proteinEffect": { "hgvs": "ENSP00000418777.1:n.*1495A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS305420" }, { "coordinates": [ { "allele": "T", "end": 1874, "referenceAllele": "A", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000486577.6:c.1768A>T" ], "proteinEffect": { "hgvs": "ENSP00000417578.3:p.Lys590Ter", "hgvsWellDefined": "ENSP00000417578.3:p.Lys590_Leu1217delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS325351" }, { "coordinates": [ { "allele": "T", "end": 1959, "referenceAllele": "A", "start": 1958 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000487664.5:c.1885A>T" ], "proteinEffect": { "hgvs": "ENSP00000417851.2:p.Lys629Ter", "hgvsWellDefined": "ENSP00000417851.2:p.Lys629_Leu1256delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS326178" }, { "coordinates": [ { "allele": "T", "end": 1831, "referenceAllele": "A", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000488444.6:c.1828A>T" ], "proteinEffect": { "hgvs": "ENSP00000419007.3:p.Lys610Ter", "hgvsWellDefined": "ENSP00000419007.3:p.Lys610_Leu1230delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS326748" }, { "coordinates": [ { "allele": "T", "end": 1828, "referenceAllele": "A", "start": 1827 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000490355.6:c.1828A>T" ], "proteinEffect": { "hgvs": "ENSP00000418003.3:p.Lys610Ter", "hgvsWellDefined": "ENSP00000418003.3:p.Lys610_Leu1235delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS328197" }, { "coordinates": [ { "allele": "T", "end": 1704, "referenceAllele": "A", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000490363.3:n.1704A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS328204" }, { "coordinates": [ { "allele": "T", "end": 1846, "referenceAllele": "A", "start": 1845 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000491806.6:c.1828A>T" ], "proteinEffect": { "hgvs": "ENSP00000419086.3:p.Lys610Ter", "hgvsWellDefined": "ENSP00000419086.3:p.Lys610_Leu1216delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329331" }, { "coordinates": [ { "allele": "T", "end": 1824, "referenceAllele": "A", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000628528.2:c.1750A>T" ], "proteinEffect": { "hgvs": "ENSP00000486374.1:p.Lys584Ter", "hgvsWellDefined": "ENSP00000486374.1:p.Lys584_Leu1211delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407060" }, { "coordinates": [ { "allele": "T", "end": 1726, "referenceAllele": "A", "start": 1725 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000630792.2:c.1726A>T" ], "proteinEffect": { "hgvs": "ENSP00000486486.1:p.Lys576Ter", "hgvsWellDefined": "ENSP00000486486.1:p.Lys576_Leu1201delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407420" }, { "coordinates": [ { "allele": "T", "end": 1836, "referenceAllele": "A", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000631073.2:c.1828A>T" ], "proteinEffect": { "hgvs": "ENSP00000486130.1:p.Lys610Ter", "hgvsWellDefined": "ENSP00000486130.1:p.Lys610_Leu1237delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407470" }, { "coordinates": [ { "allele": "T", "end": 1824, "referenceAllele": "A", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_001272003.1:c.1750A>T" ], "proteinEffect": { "hgvs": "NP_001258932.1:p.Lys584Ter", "hgvsWellDefined": "NP_001258932.1:p.Lys584_Leu1211delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020772" }, { "@id": "http://reg.genome.network/allele/PA3076043240", "coordinates": [ { "allele": "T", "end": 1959, "referenceAllele": "A", "start": 1958 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_020822.2:c.1885A>T" ], "proteinEffect": { "hgvs": "NP_065873.2:p.Lys629Ter", "hgvsWellDefined": "NP_065873.2:p.Lys629_Leu1235delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036617" }, { "coordinates": [ { "allele": "T", "end": 2898, "referenceAllele": "A", "start": 2897 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518877.1:c.2020A>T" ], "proteinEffect": { "hgvs": "XP_011517179.1:p.Lys674Ter", "hgvsWellDefined": "XP_011517179.1:p.Lys674_Leu1301delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086051" }, { "coordinates": [ { "allele": "T", "end": 2907, "referenceAllele": "A", "start": 2906 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518878.1:c.2029A>T" ], "proteinEffect": { "hgvs": "XP_011517180.1:p.Lys677Ter", "hgvsWellDefined": "XP_011517180.1:p.Lys677_Leu1283delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086052" }, { "coordinates": [ { "allele": "T", "end": 2898, "referenceAllele": "A", "start": 2897 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518879.1:c.2020A>T" ], "proteinEffect": { "hgvs": "XP_011517181.1:p.Lys674Ter", "hgvsWellDefined": "XP_011517181.1:p.Lys674_Leu1280delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086053" }, { "coordinates": [ { "allele": "T", "end": 1786, "referenceAllele": "A", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518880.1:c.1786A>T" ], "proteinEffect": { "hgvs": "XP_011517182.1:p.Lys596Ter", "hgvsWellDefined": "XP_011517182.1:p.Lys596_Leu1223delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086054" }, { "coordinates": [ { "allele": "T", "end": 1518, "referenceAllele": "A", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518881.1:c.1375A>T" ], "proteinEffect": { "hgvs": "XP_011517183.1:p.Lys459Ter", "hgvsWellDefined": "XP_011517183.1:p.Lys459_Leu1086delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086055" }, { "coordinates": [ { "allele": "T", "end": 2034, "referenceAllele": "A", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518877.3:c.2020A>T" ], "proteinEffect": { "hgvs": "XP_011517179.1:p.Lys674Ter", "hgvsWellDefined": "XP_011517179.1:p.Lys674_Leu1301delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545105" }, { "coordinates": [ { "allele": "T", "end": 2043, "referenceAllele": "A", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518878.3:c.2029A>T" ], "proteinEffect": { "hgvs": "XP_011517180.1:p.Lys677Ter", "hgvsWellDefined": "XP_011517180.1:p.Lys677_Leu1283delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545106" }, { "coordinates": [ { "allele": "T", "end": 2034, "referenceAllele": "A", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518879.3:c.2020A>T" ], "proteinEffect": { "hgvs": "XP_011517181.1:p.Lys674Ter", "hgvsWellDefined": "XP_011517181.1:p.Lys674_Leu1280delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545107" }, { "coordinates": [ { "allele": "T", "end": 2847, "referenceAllele": "A", "start": 2846 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518881.3:c.1375A>T" ], "proteinEffect": { "hgvs": "XP_011517183.1:p.Lys459Ter", "hgvsWellDefined": "XP_011517183.1:p.Lys459_Leu1086delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545108" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "A", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014931.1:c.1819A>T" ], "proteinEffect": { "hgvs": "XP_016870420.1:p.Lys607Ter", "hgvsWellDefined": "XP_016870420.1:p.Lys607_Leu1234delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567773" }, { "coordinates": [ { "allele": "T", "end": 1726, "referenceAllele": "A", "start": 1725 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014932.1:c.1642A>T" ], "proteinEffect": { "hgvs": "XP_016870421.1:p.Lys548Ter", "hgvsWellDefined": "XP_016870421.1:p.Lys548_Leu1175delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567774" }, { "coordinates": [ { "allele": "T", "end": 1553, "referenceAllele": "A", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014933.1:c.1375A>T" ], "proteinEffect": { "hgvs": "XP_016870422.1:p.Lys459Ter", "hgvsWellDefined": "XP_016870422.1:p.Lys459_Leu1086delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567775" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "A", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_024447617.1:c.1375A>T" ], "proteinEffect": { "hgvs": "XP_024303385.1:p.Lys459Ter", "hgvsWellDefined": "XP_024303385.1:p.Lys459_Leu1086delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581198" }, { "coordinates": [ { "allele": "T", "end": 1659, "referenceAllele": "A", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_024447618.1:c.1375A>T" ], "proteinEffect": { "hgvs": "XP_024303386.1:p.Lys459Ter", "hgvsWellDefined": "XP_024303386.1:p.Lys459_Leu1086delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581199" }, { "@id": "http://reg.genome.network/allele/PA3076043240", "coordinates": [ { "allele": "T", "end": 1959, "referenceAllele": "A", "start": 1958 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_020822.3:c.1885A>T" ], "proteinEffect": { "hgvs": "NP_065873.2:p.Lys629Ter", "hgvsWellDefined": "NP_065873.2:p.Lys629_Leu1235delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670113", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371757.7:c.1885A>T" }, "RefSeq": { "hgvs": "NM_020822.3:c.1885A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360822.2:p.Lys629Ter" }, "RefSeq": { "hgvs": "NP_065873.2:p.Lys629Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1824, "referenceAllele": "A", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_001272003.2:c.1750A>T" ], "proteinEffect": { "hgvs": "NP_001258932.1:p.Lys584Ter", "hgvsWellDefined": "NP_001258932.1:p.Lys584_Leu1211delinsGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681247" } ], "type": "nucleotide" }