{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA375500103", "communityStandardTitle": [ "NM_020822.3(KCNT1):c.1111G>T (p.Glu371Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.138656952G>T?assembly=hg19", "id": "chr9:g.138656952G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.135765106G>T?assembly=hg38", "id": "chr9:g.135765106G>T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 135765106, "referenceAllele": "G", "start": 135765105 } ], "hgvs": [ "NC_000009.12:g.135765106G>T", "CM000671.2:g.135765106G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 138656952, "referenceAllele": "G", "start": 138656951 } ], "hgvs": [ "NC_000009.11:g.138656952G>T", "CM000671.1:g.138656952G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 137796773, "referenceAllele": "G", "start": 137796772 } ], "hgvs": [ "NC_000009.10:g.137796773G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 67922, "referenceAllele": "G", "start": 67921 } ], "hgvs": [ "NG_033070.1:g.67922G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005402" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "G", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000371757.7:c.1111G>T" ], "proteinEffect": { "hgvs": "ENSP00000360822.2:p.Glu371Ter", "hgvsWellDefined": "ENSP00000360822.2:p.Glu371_Leu1235delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750860", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371757.7:c.1111G>T" }, "RefSeq": { "hgvs": "NM_020822.3:c.1111G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360822.2:p.Glu371Ter" }, "RefSeq": { "hgvs": "NP_065873.2:p.Glu371Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1219, "referenceAllele": "G", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000674572.1:c.952G>T" ], "proteinEffect": { "hgvs": "ENSP00000501742.1:p.Glu318Ter", "hgvsWellDefined": "ENSP00000501742.1:p.Glu318_Leu1203delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774520" }, { "coordinates": [ { "allele": "T", "end": 961, "referenceAllele": "G", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000675090.1:c.859G>T" ], "proteinEffect": { "hgvs": "ENSP00000501833.1:p.Glu287Ter", "hgvsWellDefined": "ENSP00000501833.1:p.Glu287_Leu1151delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774959" }, { "coordinates": [ { "allele": "T", "end": 949, "referenceAllele": "G", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000675399.1:c.859G>T" ], "proteinEffect": { "hgvs": "ENSP00000501932.1:p.Glu287Ter", "hgvsWellDefined": "ENSP00000501932.1:p.Glu287_Leu1172delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775224" }, { "coordinates": [ { "allele": "T", "end": 952, "referenceAllele": "G", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000676421.1:c.868G>T" ], "proteinEffect": { "hgvs": "ENSP00000502322.1:p.Glu290Ter", "hgvsWellDefined": "ENSP00000502322.1:p.Glu290_Leu1175delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776104" }, { "coordinates": [ { "allele": "T", "end": 1128, "referenceAllele": "G", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000263604.5:c.1012G>T" ], "proteinEffect": { "hgvs": "ENSP00000263604.4:p.Glu338Ter", "hgvsWellDefined": "ENSP00000263604.4:p.Glu338_Leu1223delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251298" }, { "coordinates": [ { "allele": "T", "end": 1178, "referenceAllele": "G", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000371757.6:c.1111G>T" ], "proteinEffect": { "hgvs": "ENSP00000360822.2:p.Glu371Ter", "hgvsWellDefined": "ENSP00000360822.2:p.Glu371_Leu1235delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268741" }, { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "G", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000460750.5:c.*721G>T" ], "proteinEffect": { "hgvs": "ENSP00000418777.1:n.*721G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS305420" }, { "coordinates": [ { "allele": "T", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000486577.6:c.994G>T" ], "proteinEffect": { "hgvs": "ENSP00000417578.3:p.Glu332Ter", "hgvsWellDefined": "ENSP00000417578.3:p.Glu332_Leu1217delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS325351" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "G", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000487664.5:c.1111G>T" ], "proteinEffect": { "hgvs": "ENSP00000417851.2:p.Glu371Ter", "hgvsWellDefined": "ENSP00000417851.2:p.Glu371_Leu1256delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS326178" }, { "coordinates": [ { "allele": "T", "end": 1057, "referenceAllele": "G", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000488444.6:c.1054G>T" ], "proteinEffect": { "hgvs": "ENSP00000419007.3:p.Glu352Ter", "hgvsWellDefined": "ENSP00000419007.3:p.Glu352_Leu1230delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS326748" }, { "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "G", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000490355.6:c.1054G>T" ], "proteinEffect": { "hgvs": "ENSP00000418003.3:p.Glu352Ter", "hgvsWellDefined": "ENSP00000418003.3:p.Glu352_Leu1235delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS328197" }, { "coordinates": [ { "allele": "T", "end": 930, "referenceAllele": "G", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000490363.3:n.930G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS328204" }, { "coordinates": [ { "allele": "T", "end": 1072, "referenceAllele": "G", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000491806.6:c.1054G>T" ], "proteinEffect": { "hgvs": "ENSP00000419086.3:p.Glu352Ter", "hgvsWellDefined": "ENSP00000419086.3:p.Glu352_Leu1216delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329331" }, { "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "G", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000628528.2:c.976G>T" ], "proteinEffect": { "hgvs": "ENSP00000486374.1:p.Glu326Ter", "hgvsWellDefined": "ENSP00000486374.1:p.Glu326_Leu1211delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407060" }, { "coordinates": [ { "allele": "T", "end": 952, "referenceAllele": "G", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000630792.2:c.952G>T" ], "proteinEffect": { "hgvs": "ENSP00000486486.1:p.Glu318Ter", "hgvsWellDefined": "ENSP00000486486.1:p.Glu318_Leu1201delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407420" }, { "coordinates": [ { "allele": "T", "end": 1062, "referenceAllele": "G", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000631073.2:c.1054G>T" ], "proteinEffect": { "hgvs": "ENSP00000486130.1:p.Glu352Ter", "hgvsWellDefined": "ENSP00000486130.1:p.Glu352_Leu1237delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407470" }, { "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "G", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_001272003.1:c.976G>T" ], "proteinEffect": { "hgvs": "NP_001258932.1:p.Glu326Ter", "hgvsWellDefined": "NP_001258932.1:p.Glu326_Leu1211delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020772" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "G", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_020822.2:c.1111G>T" ], "proteinEffect": { "hgvs": "NP_065873.2:p.Glu371Ter", "hgvsWellDefined": "NP_065873.2:p.Glu371_Leu1235delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036617" }, { "coordinates": [ { "allele": "T", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518877.1:c.1246G>T" ], "proteinEffect": { "hgvs": "XP_011517179.1:p.Glu416Ter", "hgvsWellDefined": "XP_011517179.1:p.Glu416_Leu1301delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086051" }, { "coordinates": [ { "allele": "T", "end": 2133, "referenceAllele": "G", "start": 2132 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518878.1:c.1255G>T" ], "proteinEffect": { "hgvs": "XP_011517180.1:p.Glu419Ter", "hgvsWellDefined": "XP_011517180.1:p.Glu419_Leu1283delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086052" }, { "coordinates": [ { "allele": "T", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518879.1:c.1246G>T" ], "proteinEffect": { "hgvs": "XP_011517181.1:p.Glu416Ter", "hgvsWellDefined": "XP_011517181.1:p.Glu416_Leu1280delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086053" }, { "coordinates": [ { "allele": "T", "end": 1012, "referenceAllele": "G", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518880.1:c.1012G>T" ], "proteinEffect": { "hgvs": "XP_011517182.1:p.Glu338Ter", "hgvsWellDefined": "XP_011517182.1:p.Glu338_Leu1223delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086054" }, { "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "G", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518881.1:c.601G>T" ], "proteinEffect": { "hgvs": "XP_011517183.1:p.Glu201Ter", "hgvsWellDefined": "XP_011517183.1:p.Glu201_Leu1086delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086055" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518877.3:c.1246G>T" ], "proteinEffect": { "hgvs": "XP_011517179.1:p.Glu416Ter", "hgvsWellDefined": "XP_011517179.1:p.Glu416_Leu1301delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545105" }, { "coordinates": [ { "allele": "T", "end": 1269, "referenceAllele": "G", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518878.3:c.1255G>T" ], "proteinEffect": { "hgvs": "XP_011517180.1:p.Glu419Ter", "hgvsWellDefined": "XP_011517180.1:p.Glu419_Leu1283delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545106" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518879.3:c.1246G>T" ], "proteinEffect": { "hgvs": "XP_011517181.1:p.Glu416Ter", "hgvsWellDefined": "XP_011517181.1:p.Glu416_Leu1280delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545107" }, { "coordinates": [ { "allele": "T", "end": 2073, "referenceAllele": "G", "start": 2072 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518881.3:c.601G>T" ], "proteinEffect": { "hgvs": "XP_011517183.1:p.Glu201Ter", "hgvsWellDefined": "XP_011517183.1:p.Glu201_Leu1086delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545108" }, { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "G", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014931.1:c.1045G>T" ], "proteinEffect": { "hgvs": "XP_016870420.1:p.Glu349Ter", "hgvsWellDefined": "XP_016870420.1:p.Glu349_Leu1234delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567773" }, { "coordinates": [ { "allele": "T", "end": 952, "referenceAllele": "G", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014932.1:c.868G>T" ], "proteinEffect": { "hgvs": "XP_016870421.1:p.Glu290Ter", "hgvsWellDefined": "XP_016870421.1:p.Glu290_Leu1175delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567774" }, { "coordinates": [ { "allele": "T", "end": 779, "referenceAllele": "G", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014933.1:c.601G>T" ], "proteinEffect": { "hgvs": "XP_016870422.1:p.Glu201Ter", "hgvsWellDefined": "XP_016870422.1:p.Glu201_Leu1086delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567775" }, { "coordinates": [ { "allele": "T", "end": 1132, "referenceAllele": "G", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_024447617.1:c.601G>T" ], "proteinEffect": { "hgvs": "XP_024303385.1:p.Glu201Ter", "hgvsWellDefined": "XP_024303385.1:p.Glu201_Leu1086delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581198" }, { "coordinates": [ { "allele": "T", "end": 885, "referenceAllele": "G", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_024447618.1:c.601G>T" ], "proteinEffect": { "hgvs": "XP_024303386.1:p.Glu201Ter", "hgvsWellDefined": "XP_024303386.1:p.Glu201_Leu1086delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581199" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "G", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_020822.3:c.1111G>T" ], "proteinEffect": { "hgvs": "NP_065873.2:p.Glu371Ter", "hgvsWellDefined": "NP_065873.2:p.Glu371_Leu1235delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670113", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371757.7:c.1111G>T" }, "RefSeq": { "hgvs": "NM_020822.3:c.1111G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360822.2:p.Glu371Ter" }, "RefSeq": { "hgvs": "NP_065873.2:p.Glu371Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "G", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_001272003.2:c.976G>T" ], "proteinEffect": { "hgvs": "NP_001258932.1:p.Glu326Ter", "hgvsWellDefined": "NP_001258932.1:p.Glu326_Leu1211delinsLysHisValValLeuCysValSerSerLeuLysIleAspLeuLeuMetAspPheLeuAsnGluPheTyrAlaHisProArgLeuGlnAspTyrTyrValValIleLeuCysProThrGluMetAspValGlnValArgArgValLeuGlnIleProLeuTrpSerGlnArgValIleTyrLeuGlnGlySerAlaLeuLysAspGlnAspLeuMetArgAlaLysMetAspAsnGlyGluAlaCysPheIleLeuSerSerArgAsnGluValAspArgThrAlaAlaAspHisGlnThrIleLeuArgAlaTrpAlaValLysAspPheAlaProAsnCysProLeuTyrValGlnIleLeuLysProGluAsnLysPheHisValLysPheAlaAspHisValValCysGluGluGluCysLysTyrAlaMetLeuAlaLeuAsnCysIleCysProAlaThrSerThrLeuIleThrLeuLeuValHisThrSerArgGlyGlnGluGlyGlnGluSerProGluGlnTrpGlnArgMetTyrGlyArgCysSerGlyAsnGluValTyrHisIleArgMetGlyAspSerLysPhePheArgGluTyrGluGlyLysSerPheThrTyrAlaAlaPheHisAlaHisLysLysTyrGlyValCysLeuIleGlyLeuLysArgGluAspAsnLysSerIleLeuLeuAsnProGlyProArgHisIleLeuAlaAlaSerAspThrCysPheTyrIleAsnIleThrLysGluGluAsnSerAlaPheIlePheLysGlnGluGluLysArgLysLysArgAlaPheSerGlyGlnGlyLeuHisGluGlyProAlaArgLeuProValHisSerIleIleAlaSerMetGlyThrValAlaMetAspLeuGlnGlyThrGluHisArgProThrGlnSerGlyGlyGlyGlyGlyGlySerLysLeuAlaLeuProThrGluAsnGlySerGlySerArgArgProSerIleAlaProValLeuGluLeuAlaAspSerSerAlaLeuLeuProCysAspLeuLeuSerAspGlnSerGluAspGluValThrProSerAspAspGluGlyLeuSerValValGluTyrValLysGlyTyrProProAsnSerProTyrIleGlySerSerProThrLeuCysHisLeuLeuProValLysAlaProPheCysCysLeuArgLeuAspLysGlyCysLysHisAsnSerTyrGluAspAlaLysAlaTyrGlyPheLysAsnLysLeuIleIleValSerAlaGluThrAlaGlyAsnGlyLeuTyrAsnPheIleValProLeuArgAlaTyrTyrArgSerArgLysGluLeuAsnProIleValLeuLeuLeuAspAsnLysProAspHisHisPheLeuGluAlaIleCysCysPheProMetValTyrTyrMetGluGlySerValAspAsnLeuAspSerLeuLeuGlnCysGlyIleIleTyrAlaAspAsnLeuValValValAspLysGluSerThrMetSerAlaGluGluAspTyrMetAlaAspAlaLysThrIleValAsnValGlnThrMetPheArgLeuPheProSerLeuSerIleThrThrGluLeuThrHisProSerAsnMetArgPheMetGlnPheArgAlaLysAspSerTyrSerLeuAlaLeuSerLysLeuGluLysArgGluArgGluAsnGlySerAsnLeuAlaPheMetPheArgLeuProPheAlaAlaGlyArgValPheSerIleSerMetLeuAspThrLeuLeuTyrGlnSerPheValLysAspTyrMetIleThrIleThrArgLeuLeuLeuGlyLeuAspThrThrProGlySerGlyTyrLeuCysAlaMetLysIleThrGluGlyAspLeuTrpIleArgThrTyrGlyArgLeuPheGlnLysLeuCysSerSerSerAlaGluIleProIleGlyIleTyrArgThrGluSerHisValPheSerThrSerGluProHisAspLeuArgAlaGlnSerGlnIleSerValAsnValGluAspCysGluAspThrArgGluValLysGlyProTrpGlySerArgAlaGlyThrGlyGlySerSerGlnGlyArgHisThrGlyGlyGlyAspProAlaGluHisProLeuLeuArgArgLysSerLeuGlnTrpAlaArgArgLeuSerArgLysAlaProLysGlnAlaGlyArgAlaAlaAlaAlaGluTrpIleSerGlnGlnArgLeuSerLeuTyrArgArgSerGluArgGlnGluLeuSerGluLeuValLysAsnArgMetLysHisLeuGlyLeuProThrThrGlyTyrGluAspValAlaAsnLeuThrAlaSerAspValMetAsnArgValAsnLeuGlyTyrLeuGlnAspGluMetAsnAspHisGlnAsnThrLeuSerTyrValLeuIleAsnProProProAspThrArgLeuGluProSerAspIleValTyrLeuIleArgSerAspProLeuAlaHisValAlaSerSerSerGlnSerArgLysSerSerCysSerHisLysLeuSerSerCysAsnProGluThrArgAspGluThrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681247" } ], "type": "nucleotide" }