{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA375500078", "communityStandardTitle": [ "NM_020822.3(KCNT1):c.1105C>T (p.Gln369Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3508056[alleleid]", "alleleId": 3508056, "preferredName": "NM_020822.3(KCNT1):c.1105C>T (p.Gln369Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3348827", "RCV": [ "RCV004750614" ], "variationId": 3348827 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.138656946C>T?assembly=hg19", "id": "chr9:g.138656946C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.135765100C>T?assembly=hg38", "id": "chr9:g.135765100C>T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 135765100, "referenceAllele": "C", "start": 135765099 } ], "hgvs": [ "NC_000009.12:g.135765100C>T", "CM000671.2:g.135765100C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 138656946, "referenceAllele": "C", "start": 138656945 } ], "hgvs": [ "NC_000009.11:g.138656946C>T", "CM000671.1:g.138656946C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 137796767, "referenceAllele": "C", "start": 137796766 } ], "hgvs": [ "NC_000009.10:g.137796767C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 67916, "referenceAllele": "C", "start": 67915 } ], "hgvs": [ "NG_033070.1:g.67916C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005402" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000371757.7:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000360822.2:p.Gln369Ter", "hgvsWellDefined": "ENSP00000360822.2:p.Gln369_Leu1235delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750860", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371757.7:c.1105C>T" }, "RefSeq": { "hgvs": "NM_020822.3:c.1105C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360822.2:p.Gln369Ter" }, "RefSeq": { "hgvs": "NP_065873.2:p.Gln369Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "C", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000674572.1:c.946C>T" ], "proteinEffect": { "hgvs": "ENSP00000501742.1:p.Gln316Ter", "hgvsWellDefined": "ENSP00000501742.1:p.Gln316_Leu1203delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774520" }, { "coordinates": [ { "allele": "T", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000675090.1:c.853C>T" ], "proteinEffect": { "hgvs": "ENSP00000501833.1:p.Gln285Ter", "hgvsWellDefined": "ENSP00000501833.1:p.Gln285_Leu1151delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774959" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000675399.1:c.853C>T" ], "proteinEffect": { "hgvs": "ENSP00000501932.1:p.Gln285Ter", "hgvsWellDefined": "ENSP00000501932.1:p.Gln285_Leu1172delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775224" }, { "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000676421.1:c.862C>T" ], "proteinEffect": { "hgvs": "ENSP00000502322.1:p.Gln288Ter", "hgvsWellDefined": "ENSP00000502322.1:p.Gln288_Leu1175delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776104" }, { "coordinates": [ { "allele": "T", "end": 1122, "referenceAllele": "C", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000263604.5:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000263604.4:p.Gln336Ter", "hgvsWellDefined": "ENSP00000263604.4:p.Gln336_Leu1223delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251298" }, { "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000371757.6:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000360822.2:p.Gln369Ter", "hgvsWellDefined": "ENSP00000360822.2:p.Gln369_Leu1235delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268741" }, { "coordinates": [ { "allele": "T", "end": 1130, "referenceAllele": "C", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000460750.5:c.*715C>T" ], "proteinEffect": { "hgvs": "ENSP00000418777.1:n.*715C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS305420" }, { "coordinates": [ { "allele": "T", "end": 1094, "referenceAllele": "C", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000486577.6:c.988C>T" ], "proteinEffect": { "hgvs": "ENSP00000417578.3:p.Gln330Ter", "hgvsWellDefined": "ENSP00000417578.3:p.Gln330_Leu1217delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS325351" }, { "coordinates": [ { "allele": "T", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000487664.5:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000417851.2:p.Gln369Ter", "hgvsWellDefined": "ENSP00000417851.2:p.Gln369_Leu1256delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS326178" }, { "coordinates": [ { "allele": "T", "end": 1051, "referenceAllele": "C", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000488444.6:c.1048C>T" ], "proteinEffect": { "hgvs": "ENSP00000419007.3:p.Gln350Ter", "hgvsWellDefined": "ENSP00000419007.3:p.Gln350_Leu1230delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS326748" }, { "coordinates": [ { "allele": "T", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000490355.6:c.1048C>T" ], "proteinEffect": { "hgvs": "ENSP00000418003.3:p.Gln350Ter", "hgvsWellDefined": "ENSP00000418003.3:p.Gln350_Leu1235delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS328197" }, { "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000490363.3:n.924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS328204" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "C", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000491806.6:c.1048C>T" ], "proteinEffect": { "hgvs": "ENSP00000419086.3:p.Gln350Ter", "hgvsWellDefined": "ENSP00000419086.3:p.Gln350_Leu1216delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329331" }, { "coordinates": [ { "allele": "T", "end": 1044, "referenceAllele": "C", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000628528.2:c.970C>T" ], "proteinEffect": { "hgvs": "ENSP00000486374.1:p.Gln324Ter", "hgvsWellDefined": "ENSP00000486374.1:p.Gln324_Leu1211delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407060" }, { "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000630792.2:c.946C>T" ], "proteinEffect": { "hgvs": "ENSP00000486486.1:p.Gln316Ter", "hgvsWellDefined": "ENSP00000486486.1:p.Gln316_Leu1201delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407420" }, { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000631073.2:c.1048C>T" ], "proteinEffect": { "hgvs": "ENSP00000486130.1:p.Gln350Ter", "hgvsWellDefined": "ENSP00000486130.1:p.Gln350_Leu1237delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407470" }, { "coordinates": [ { "allele": "T", "end": 1044, "referenceAllele": "C", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_001272003.1:c.970C>T" ], "proteinEffect": { "hgvs": "NP_001258932.1:p.Gln324Ter", "hgvsWellDefined": "NP_001258932.1:p.Gln324_Leu1211delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020772" }, { "@id": "http://reg.genome.network/allele/PA3057342562", "coordinates": [ { "allele": "T", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_020822.2:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_065873.2:p.Gln369Ter", "hgvsWellDefined": "NP_065873.2:p.Gln369_Leu1235delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036617" }, { "coordinates": [ { "allele": "T", "end": 2118, "referenceAllele": "C", "start": 2117 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518877.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011517179.1:p.Gln414Ter", "hgvsWellDefined": "XP_011517179.1:p.Gln414_Leu1301delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086051" }, { "coordinates": [ { "allele": "T", "end": 2127, "referenceAllele": "C", "start": 2126 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518878.1:c.1249C>T" ], "proteinEffect": { "hgvs": "XP_011517180.1:p.Gln417Ter", "hgvsWellDefined": "XP_011517180.1:p.Gln417_Leu1283delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086052" }, { "coordinates": [ { "allele": "T", "end": 2118, "referenceAllele": "C", "start": 2117 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518879.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011517181.1:p.Gln414Ter", "hgvsWellDefined": "XP_011517181.1:p.Gln414_Leu1280delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086053" }, { "coordinates": [ { "allele": "T", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518880.1:c.1006C>T" ], "proteinEffect": { "hgvs": "XP_011517182.1:p.Gln336Ter", "hgvsWellDefined": "XP_011517182.1:p.Gln336_Leu1223delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086054" }, { "coordinates": [ { "allele": "T", "end": 738, "referenceAllele": "C", "start": 737 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518881.1:c.595C>T" ], "proteinEffect": { "hgvs": "XP_011517183.1:p.Gln199Ter", "hgvsWellDefined": "XP_011517183.1:p.Gln199_Leu1086delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086055" }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518877.3:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011517179.1:p.Gln414Ter", "hgvsWellDefined": "XP_011517179.1:p.Gln414_Leu1301delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545105" }, { "coordinates": [ { "allele": "T", "end": 1263, "referenceAllele": "C", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518878.3:c.1249C>T" ], "proteinEffect": { "hgvs": "XP_011517180.1:p.Gln417Ter", "hgvsWellDefined": "XP_011517180.1:p.Gln417_Leu1283delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545106" }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518879.3:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011517181.1:p.Gln414Ter", "hgvsWellDefined": "XP_011517181.1:p.Gln414_Leu1280delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545107" }, { "coordinates": [ { "allele": "T", "end": 2067, "referenceAllele": "C", "start": 2066 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518881.3:c.595C>T" ], "proteinEffect": { "hgvs": "XP_011517183.1:p.Gln199Ter", "hgvsWellDefined": "XP_011517183.1:p.Gln199_Leu1086delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545108" }, { "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "C", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014931.1:c.1039C>T" ], "proteinEffect": { "hgvs": "XP_016870420.1:p.Gln347Ter", "hgvsWellDefined": "XP_016870420.1:p.Gln347_Leu1234delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567773" }, { "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014932.1:c.862C>T" ], "proteinEffect": { "hgvs": "XP_016870421.1:p.Gln288Ter", "hgvsWellDefined": "XP_016870421.1:p.Gln288_Leu1175delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567774" }, { "coordinates": [ { "allele": "T", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014933.1:c.595C>T" ], "proteinEffect": { "hgvs": "XP_016870422.1:p.Gln199Ter", "hgvsWellDefined": "XP_016870422.1:p.Gln199_Leu1086delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567775" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_024447617.1:c.595C>T" ], "proteinEffect": { "hgvs": "XP_024303385.1:p.Gln199Ter", "hgvsWellDefined": "XP_024303385.1:p.Gln199_Leu1086delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581198" }, { "coordinates": [ { "allele": "T", "end": 879, "referenceAllele": "C", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_024447618.1:c.595C>T" ], "proteinEffect": { "hgvs": "XP_024303386.1:p.Gln199Ter", "hgvsWellDefined": "XP_024303386.1:p.Gln199_Leu1086delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581199" }, { "@id": "http://reg.genome.network/allele/PA3057342562", "coordinates": [ { "allele": "T", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_020822.3:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_065873.2:p.Gln369Ter", "hgvsWellDefined": "NP_065873.2:p.Gln369_Leu1235delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670113", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371757.7:c.1105C>T" }, "RefSeq": { "hgvs": "NM_020822.3:c.1105C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360822.2:p.Gln369Ter" }, "RefSeq": { "hgvs": "NP_065873.2:p.Gln369Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1044, "referenceAllele": "C", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_001272003.2:c.970C>T" ], "proteinEffect": { "hgvs": "NP_001258932.1:p.Gln324Ter", "hgvsWellDefined": "NP_001258932.1:p.Gln324_Leu1211delinsThrGluLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681247" } ], "type": "nucleotide" }