{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA384905043", "communityStandardTitle": [ "NM_001330260.2(SCN8A):c.4033G>T (p.Gly1345Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1286803[alleleid]", "alleleId": 1286803, "preferredName": "NM_001330260.2(SCN8A):c.4033G>T (p.Gly1345Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1297013", "RCV": [ "RCV001724749" ], "variationId": 1297013 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.52180416G>T?assembly=hg19", "id": "chr12:g.52180416G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.51786632G>T?assembly=hg38", "id": "chr12:g.51786632G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555228329", "rs": 1555228329 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748575", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354534.11:c.4033G>T" }, "RefSeq": { "hgvs": "NM_014191.4:c.4033G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346534.4:p.Gly1345Ter" }, "RefSeq": { "hgvs": "NP_055006.1:p.Gly1345Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1827, "referenceAllele": "G", "start": 1826 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "ENST00000548086.3:c.1827G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759894" }, { "coordinates": [ { "allele": "T", "end": 4214, "referenceAllele": "G", "start": 4213 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "ENST00000627620.5:c.4033G>T" ], "proteinEffect": { "hgvs": "ENSP00000487583.2:p.Gly1345Ter", "hgvsWellDefined": "ENSP00000487583.2:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762495", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000627620.5:c.4033G>T" }, "RefSeq": { "hgvs": "NM_001330260.2:c.4033G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487583.2:p.Gly1345Ter" }, "RefSeq": { "hgvs": "NP_001317189.1:p.Gly1345Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2097, "referenceAllele": "G", "start": 2096 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "ENST00000636945.2:c.2097G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763496" }, { "coordinates": [ { "allele": "T", "end": 4181, "referenceAllele": "G", "start": 4180 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "ENST00000662684.1:c.4033G>T" ], "proteinEffect": { "hgvs": "ENSP00000499636.1:p.Gly1345Ter", "hgvsWellDefined": "ENSP00000499636.1:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772788" }, { "coordinates": [ { "allele": "T", "end": 4091, "referenceAllele": "G", "start": 4090 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "ENST00000668547.1:c.3910G>T" ], "proteinEffect": { "hgvs": "ENSP00000499691.1:p.Gly1304Ter", "hgvsWellDefined": "ENSP00000499691.1:p.Gly1304_Cys1939delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773026" }, { "coordinates": [ { "allele": "T", "end": 4211, "referenceAllele": "G", "start": 4210 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "ENST00000354534.10:c.4033G>T" ], "proteinEffect": { "hgvs": "ENSP00000346534.4:p.Gly1345Ter", "hgvsWellDefined": "ENSP00000346534.4:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263154" }, { "coordinates": [ { "allele": "T", "end": 3910, "referenceAllele": "G", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "ENST00000355133.7:c.3910G>T" ], "proteinEffect": { "hgvs": "ENSP00000347255.4:p.Gly1304Ter", "hgvsWellDefined": "ENSP00000347255.4:p.Gly1304_Cys1939delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263341" }, { "coordinates": [ { "allele": "T", "end": 4088, "referenceAllele": "G", "start": 4087 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "ENST00000545061.5:c.3910G>T" ], "proteinEffect": { "hgvs": "ENSP00000440360.1:p.Gly1304Ter", "hgvsWellDefined": "ENSP00000440360.1:p.Gly1304_Cys1939delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS364908" }, { "coordinates": [ { "allele": "T", "end": 284, "referenceAllele": "G", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "ENST00000548086.1:n.284G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS366652" }, { "coordinates": [ { "allele": "T", "end": 4066, "referenceAllele": "G", "start": 4065 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "ENST00000599343.5:c.4066G>T" ], "proteinEffect": { "hgvs": "ENSP00000476447.3:p.Gly1356Ter", "hgvsWellDefined": "ENSP00000476447.3:p.Gly1356_Cys1991delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS396793" }, { "coordinates": [ { "allele": "T", "end": 4033, "referenceAllele": "G", "start": 4032 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "ENST00000627620.2:c.4033G>T" ], "proteinEffect": { "hgvs": "ENSP00000487583.1:p.Gly1345Ter", "hgvsWellDefined": "ENSP00000487583.1:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406922" }, { "@id": "http://reg.genome.network/allele/PA2826130348", "coordinates": [ { "allele": "T", "end": 4088, "referenceAllele": "G", "start": 4087 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "NM_001177984.2:c.3910G>T" ], "proteinEffect": { "hgvs": "NP_001171455.1:p.Gly1304Ter", "hgvsWellDefined": "NP_001171455.1:p.Gly1304_Cys1939delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015791" }, { "@id": "http://reg.genome.network/allele/PA2499278005", "coordinates": [ { "allele": "T", "end": 4211, "referenceAllele": "G", "start": 4210 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "NM_014191.3:c.4033G>T" ], "proteinEffect": { "hgvs": "NP_055006.1:p.Gly1345Ter", "hgvsWellDefined": "NP_055006.1:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032973" }, { "coordinates": [ { "allele": "T", "end": 4568, "referenceAllele": "G", "start": 4567 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "XM_006719556.2:c.4033G>T" ], "proteinEffect": { "hgvs": "XP_006719619.1:p.Gly1345Ter", "hgvsWellDefined": "XP_006719619.1:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073200" }, { "coordinates": [ { "allele": "T", "end": 4124, "referenceAllele": "G", "start": 4123 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "XM_011538650.1:c.4033G>T" ], "proteinEffect": { "hgvs": "XP_011536952.1:p.Gly1345Ter", "hgvsWellDefined": "XP_011536952.1:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105605" }, { "coordinates": [ { "allele": "T", "end": 4106, "referenceAllele": "G", "start": 4105 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "XM_011538651.1:c.4033G>T" ], "proteinEffect": { "hgvs": "XP_011536953.1:p.Gly1345Ter", "hgvsWellDefined": "XP_011536953.1:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105606" }, { "@id": "http://reg.genome.network/allele/PA2827292147", "coordinates": [ { "allele": "T", "end": 4211, "referenceAllele": "G", "start": 4210 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "NM_001330260.1:c.4033G>T" ], "proteinEffect": { "hgvs": "NP_001317189.1:p.Gly1345Ter", "hgvsWellDefined": "NP_001317189.1:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516658" }, { "coordinates": [ { "allele": "T", "end": 4803, "referenceAllele": "G", "start": 4802 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "XM_006719556.4:c.4033G>T" ], "proteinEffect": { "hgvs": "XP_006719619.1:p.Gly1345Ter", "hgvsWellDefined": "XP_006719619.1:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539893" }, { "coordinates": [ { "allele": "T", "end": 4195, "referenceAllele": "G", "start": 4194 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "XM_011538651.3:c.4033G>T" ], "proteinEffect": { "hgvs": "XP_011536953.1:p.Gly1345Ter", "hgvsWellDefined": "XP_011536953.1:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553348" }, { "coordinates": [ { "allele": "T", "end": 4208, "referenceAllele": "G", "start": 4207 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "XM_017019794.2:c.4033G>T" ], "proteinEffect": { "hgvs": "XP_016875283.1:p.Gly1345Ter", "hgvsWellDefined": "XP_016875283.1:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571386" }, { "coordinates": [ { "allele": "T", "end": 4104, "referenceAllele": "G", "start": 4103 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "XM_017019795.2:c.3910G>T" ], "proteinEffect": { "hgvs": "XP_016875284.1:p.Gly1304Ter", "hgvsWellDefined": "XP_016875284.1:p.Gly1304_Cys1939delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571387" }, { "coordinates": [ { "allele": "T", "end": 4174, "referenceAllele": "G", "start": 4173 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "XM_017019796.1:c.*131G>T" ], "proteinEffect": { "hgvs": "XP_016875285.1:n.*131G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS571388" }, { "@id": "http://reg.genome.network/allele/PA2827292147", "coordinates": [ { "allele": "T", "end": 4214, "referenceAllele": "G", "start": 4213 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "NM_001330260.2:c.4033G>T" ], "proteinEffect": { "hgvs": "NP_001317189.1:p.Gly1345Ter", "hgvsWellDefined": "NP_001317189.1:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686837", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000627620.5:c.4033G>T" }, "RefSeq": { "hgvs": "NM_001330260.2:c.4033G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487583.2:p.Gly1345Ter" }, "RefSeq": { "hgvs": "NP_001317189.1:p.Gly1345Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828361142", "coordinates": [ { "allele": "T", "end": 4091, "referenceAllele": "G", "start": 4090 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "NM_001369788.1:c.3910G>T" ], "proteinEffect": { "hgvs": "NP_001356717.1:p.Gly1304Ter", "hgvsWellDefined": "NP_001356717.1:p.Gly1304_Cys1939delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691972" }, { "@id": "http://reg.genome.network/allele/PA2499278005", "coordinates": [ { "allele": "T", "end": 4214, "referenceAllele": "G", "start": 4213 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "NM_014191.4:c.4033G>T" ], "proteinEffect": { "hgvs": "NP_055006.1:p.Gly1345Ter", "hgvsWellDefined": "NP_055006.1:p.Gly1345_Cys1980delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697198", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354534.11:c.4033G>T" }, "RefSeq": { "hgvs": "NM_014191.4:c.4033G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346534.4:p.Gly1345Ter" }, "RefSeq": { "hgvs": "NP_055006.1:p.Gly1345Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826130348", "coordinates": [ { "allele": "T", "end": 4091, "referenceAllele": "G", "start": 4090 } ], "gene": "http://reg.genome.network/gene/GN010596", "geneNCBI_id": 6334, "geneSymbol": "SCN8A", "hgvs": [ "NM_001177984.3:c.3910G>T" ], "proteinEffect": { "hgvs": "NP_001171455.1:p.Gly1304Ter", "hgvsWellDefined": "NP_001171455.1:p.Gly1304_Cys1939delinsValAsnLeuPheAlaGlyLysTyrHisTyrCysPheAsnGluThrSerGluIleArgPheGluIleGluAspValAsnAsnLysThrGluCysGluLysLeuMetGluGlyAsnAsnThrGluIleArgTrpLysAsnValLysIleAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgLysProAspGluGlnProLysTyrGluAspAsnIleTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysIleGlnGlyIleValPheAspPheValThrGlnGlnAlaPheAspIleValIleMetMetLeuIleCysLeuAsnMetValThrMetMetValGluThrAspThrGlnSerLysGlnMetGluAsnIleLeuTyrTrpIleAsnLeuValPheValIlePhePheThrCysGluCysValLeuLysMetPheAlaLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaAspIleIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIlePheSerIlePheGlyMetSerAsnPheAlaTyrValLysHisGluAlaGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuLeuProIleLeuAsnArgProProAspCysSerLeuAspLysGluHisProGlySerGlyPheLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerAlaAspProLeuSerGluAspAspPheGluThrPheTyrGluIleTrpGluLysPheAspProAspAlaThrGlnPheIleGluTyrCysLysLeuAlaAspPheAlaAspAlaLeuGluHisProLeuArgValProLysProAsnThrIleGluLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyAspSerGlyGluLeuAspIleLeuArgGlnGlnMetGluGluArgPheValAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuArgArgLysGlnGluGluValSerAlaValValLeuGlnArgAlaTyrArgGlyHisLeuAlaArgArgGlyPheIleCysLysLysThrThrSerAsnLysLeuGluAsnGlyGlyThrHisArgGluLysLysGluSerThrProSerThrAlaSerLeuProSerTyrAspSerValThrLysProGluLysGluLysGlnGlnArgAlaGluGluGlyArgArgGluArgAlaLysArgGlnLysGluValArgGluSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713539" } ], "type": "nucleotide" }