{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA266841", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99553[alleleid]", "alleleId": 99553, "preferredName": "NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93649", "RCV": [ "RCV000079581", "RCV000636415", "RCV001509554", "RCV002316233" ], "variationId": 93649 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166859047G>A?assembly=hg19", "id": "chr2:g.166859047G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166002537G>A?assembly=hg38", "id": "chr2:g.166002537G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/398123593", "rs": 398123593 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": 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"http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4362, "referenceAllele": "C", "start": 4361 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.*2255C>T" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:n.*2255C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "T", "end": 4610, "referenceAllele": "C", "start": 4609 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.4219C>T" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Arg1407Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "T", "end": 4403, "referenceAllele": "C", "start": 4402 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.4186C>T" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Arg1396Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "T", "end": 4488, "referenceAllele": "C", "start": 4487 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.4186C>T" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Arg1396Ter", "hgvsWellDefined": "ENSP00000490692.1:p.Arg1396_Lys1618delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyLysLysTyrLeuLysPheLeuAsnSerValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "T", "end": 4612, "referenceAllele": "C", "start": 4611 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.*1712C>T" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:n.*1712C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "T", "end": 1081, "referenceAllele": "C", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637038.1:c.1081C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763565" }, { "coordinates": [ { "allele": "T", "end": 4666, "referenceAllele": "C", "start": 4665 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.4186C>T" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Arg1396Ter", "hgvsWellDefined": "ENSP00000490780.1:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "T", "end": 4235, "referenceAllele": "C", "start": 4234 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.4186C>T" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Arg1396Ter", "hgvsWellDefined": "ENSP00000491573.1:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "T", "end": 4459, "referenceAllele": "C", "start": 4458 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.4183C>T" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Arg1395Ter", "hgvsWellDefined": "ENSP00000492917.1:p.Arg1395_Lys1997delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "T", "end": 4156, "endIntronDirection": "-", "endIntronOffset": 2760, "referenceAllele": "C", "start": 4156, "startIntronDirection": "-", "startIntronOffset": 2761 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.4003-2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:n.4003-2761C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "T", "end": 4488, "referenceAllele": "C", "start": 4487 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*3773C>T" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*3773C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "T", "end": 4438, "referenceAllele": "C", "start": 4437 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.*2162C>T" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:n.*2162C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "T", "end": 6692, "referenceAllele": "C", "start": 6691 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.6692C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "T", "end": 4697, "referenceAllele": "C", "start": 4696 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.4219C>T" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Arg1407Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.4219C>T" }, "RefSeq": { "hgvs": "NM_001165963.4:c.4219C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Arg1407Ter" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Arg1407Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4637, "referenceAllele": "C", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.4219C>T" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Arg1407Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "T", "end": 4204, "referenceAllele": "C", "start": 4203 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.4186C>T" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Arg1396Ter", "hgvsWellDefined": "ENSP00000364554.3:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "T", "end": 4135, "referenceAllele": "C", "start": 4134 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.4135C>T" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Arg1379Ter", "hgvsWellDefined": "ENSP00000386312.1:p.Arg1379_Lys1981delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "T", "end": 4295, "referenceAllele": "C", "start": 4294 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.4219C>T" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Arg1407Ter", "hgvsWellDefined": "ENSP00000407030.2:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "C", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000491429.1:n.372C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS329030" }, { "@id": "http://reg.genome.network/allele/PA266843", "coordinates": [ { "allele": "T", "end": 4237, "referenceAllele": "C", "start": 4236 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.4219C>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg1407Ter", "hgvsWellDefined": "NP_001159435.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826013288", "coordinates": [ { "allele": "T", "end": 4153, "referenceAllele": "C", "start": 4152 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.4135C>T" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Arg1379Ter", "hgvsWellDefined": "NP_001159436.1:p.Arg1379_Lys1981delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA913189227", "coordinates": [ { "allele": "T", "end": 4446, "referenceAllele": "C", "start": 4445 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.4219C>T" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Arg1407Ter", "hgvsWellDefined": "NP_001189364.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA266844", "coordinates": [ { "allele": "T", "end": 4204, "referenceAllele": "C", "start": 4203 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.4186C>T", "LRG_8t1:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Arg1396Ter", "hgvsWellDefined": "NP_008851.3:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "A", "end": 175, "endIntronDirection": "-", "endIntronOffset": 13075, "referenceAllele": "G", "start": 175, "startIntronDirection": "-", "startIntronOffset": 13076 } ], "hgvs": [ "NR_110598.1:n.176-13076G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054761" }, { "coordinates": [ { "allele": "T", "end": 4403, "referenceAllele": "C", "start": 4402 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.4219C>T" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Arg1407Ter", "hgvsWellDefined": "XP_011509900.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "T", "end": 4618, "referenceAllele": "C", "start": 4617 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.4219C>T" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Arg1407Ter", "hgvsWellDefined": "XP_011509901.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "T", "end": 4494, "referenceAllele": "C", "start": 4493 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.4219C>T" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Arg1407Ter", "hgvsWellDefined": "XP_011509902.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "T", "end": 4613, "referenceAllele": "C", "start": 4612 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.4219C>T" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Arg1407Ter", "hgvsWellDefined": "XP_011509903.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "T", "end": 4526, "referenceAllele": "C", "start": 4525 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.4219C>T" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Arg1407Ter", "hgvsWellDefined": "XP_011509904.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "T", "end": 4400, "referenceAllele": "C", "start": 4399 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.4216C>T" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Arg1406Ter", "hgvsWellDefined": "XP_011509905.1:p.Arg1406_Lys2008delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "T", "end": 4370, "referenceAllele": "C", "start": 4369 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.4186C>T" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Arg1396Ter", "hgvsWellDefined": "XP_011509906.1:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "T", "end": 4367, "referenceAllele": "C", "start": 4366 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.4183C>T" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Arg1395Ter", "hgvsWellDefined": "XP_011509907.1:p.Arg1395_Lys1997delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "T", "end": 4319, "referenceAllele": "C", "start": 4318 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.4135C>T" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Arg1379Ter", "hgvsWellDefined": "XP_011509908.1:p.Arg1379_Lys1981delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "T", "end": 4186, "endIntronDirection": "-", "endIntronOffset": 2760, "referenceAllele": "C", "start": 4186, "startIntronDirection": "-", "startIntronOffset": 2761 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.4003-2761C>T" ], "proteinEffect": { "hgvs": "XP_011509909.1:n.4003-2761C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "T", "end": 4467, "referenceAllele": "C", "start": 4466 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.4467C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA266843", "coordinates": [ { "allele": "T", "end": 4716, "referenceAllele": "C", "start": 4715 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.4219C>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg1407Ter", "hgvsWellDefined": "NP_001159435.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826013288", "coordinates": [ { "allele": "T", "end": 4545, "referenceAllele": "C", "start": 4544 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.4135C>T" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Arg1379Ter", "hgvsWellDefined": "NP_001159436.1:p.Arg1379_Lys1981delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA913189227", "coordinates": [ { "allele": "T", "end": 4530, "referenceAllele": "C", "start": 4529 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.4219C>T" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Arg1407Ter", "hgvsWellDefined": "NP_001189364.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827753471", "coordinates": [ { "allele": "T", "end": 4537, "referenceAllele": "C", "start": 4536 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.4219C>T" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Arg1407Ter", "hgvsWellDefined": "NP_001340877.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827760076", "coordinates": [ { "allele": "T", "end": 4405, "referenceAllele": "C", "start": 4404 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Arg1396Ter", "hgvsWellDefined": "NP_001340878.1:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827766634", "coordinates": [ { "allele": "T", "end": 4497, "referenceAllele": "C", "start": 4496 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Arg1396Ter", "hgvsWellDefined": "NP_001340879.1:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827771261", "coordinates": [ { "allele": "T", "end": 4504, "referenceAllele": "C", "start": 4503 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Arg1396Ter", "hgvsWellDefined": "NP_001340880.1:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827774249", "coordinates": [ { "allele": "T", "end": 4596, "referenceAllele": "C", "start": 4595 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Arg1396Ter", "hgvsWellDefined": "NP_001340881.1:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827777236", "coordinates": [ { "allele": "T", "end": 4593, "referenceAllele": "C", "start": 4592 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.4183C>T" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Arg1395Ter", "hgvsWellDefined": "NP_001340883.1:p.Arg1395_Lys1997delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827780222", "coordinates": [ { "allele": "T", "end": 4501, "referenceAllele": "C", "start": 4500 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.4183C>T" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Arg1395Ter", "hgvsWellDefined": "NP_001340884.1:p.Arg1395_Lys1997delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827783193", "coordinates": [ { "allele": "T", "end": 4453, "referenceAllele": "C", "start": 4452 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.4135C>T" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Arg1379Ter", "hgvsWellDefined": "NP_001340886.1:p.Arg1379_Lys1981delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827786155", "coordinates": [ { "allele": "T", "end": 4446, "referenceAllele": "C", "start": 4445 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.4135C>T" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Arg1379Ter", "hgvsWellDefined": "NP_001340887.1:p.Arg1379_Lys1981delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827789126", "coordinates": [ { "allele": "T", "end": 4542, "referenceAllele": "C", "start": 4541 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.4132C>T" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Arg1378Ter", "hgvsWellDefined": "NP_001340889.1:p.Arg1378_Lys1980delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "@id": "http://reg.genome.network/allele/PA916036771", "coordinates": [ { "allele": "T", "end": 4612, "referenceAllele": "C", "start": 4611 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.1777C>T" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Arg593Ter", "hgvsWellDefined": "NP_001340890.1:p.Arg593_Lys1195delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA266844", "coordinates": [ { "allele": "T", "end": 4683, "referenceAllele": "C", "start": 4682 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Arg1396Ter", "hgvsWellDefined": "NP_008851.3:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "T", "end": 4655, "referenceAllele": "C", "start": 4654 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.4655C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "T", "end": 4669, "referenceAllele": "C", "start": 4668 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.4669C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "T", "end": 4641, "referenceAllele": "C", "start": 4640 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.4641C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA266843", "coordinates": [ { "allele": "T", "end": 4697, "referenceAllele": "C", "start": 4696 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.4219C>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg1407Ter", "hgvsWellDefined": "NP_001159435.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826013288", "coordinates": [ { "allele": "T", "end": 4526, "referenceAllele": "C", "start": 4525 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.4135C>T" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Arg1379Ter", "hgvsWellDefined": "NP_001159436.1:p.Arg1379_Lys1981delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA913189227", "coordinates": [ { "allele": "T", "end": 4475, "referenceAllele": "C", "start": 4474 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.4219C>T" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Arg1407Ter", "hgvsWellDefined": "NP_001189364.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827753471", "coordinates": [ { "allele": "T", "end": 4518, "referenceAllele": "C", "start": 4517 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.4219C>T" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Arg1407Ter", "hgvsWellDefined": "NP_001340877.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827760076", "coordinates": [ { "allele": "T", "end": 4350, "referenceAllele": "C", "start": 4349 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Arg1396Ter", "hgvsWellDefined": "NP_001340878.1:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827766634", "coordinates": [ { "allele": "T", "end": 4442, "referenceAllele": "C", "start": 4441 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Arg1396Ter", "hgvsWellDefined": "NP_001340879.1:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827771261", "coordinates": [ { "allele": "T", "end": 4485, "referenceAllele": "C", "start": 4484 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Arg1396Ter", "hgvsWellDefined": "NP_001340880.1:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827774249", "coordinates": [ { "allele": "T", "end": 4577, "referenceAllele": "C", "start": 4576 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Arg1396Ter", "hgvsWellDefined": "NP_001340881.1:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827777236", "coordinates": [ { "allele": "T", "end": 4574, "referenceAllele": "C", "start": 4573 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.4183C>T" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Arg1395Ter", "hgvsWellDefined": "NP_001340883.1:p.Arg1395_Lys1997delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827780222", "coordinates": [ { "allele": "T", "end": 4482, "referenceAllele": "C", "start": 4481 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.4183C>T" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Arg1395Ter", "hgvsWellDefined": "NP_001340884.1:p.Arg1395_Lys1997delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827783193", "coordinates": [ { "allele": "T", "end": 4434, "referenceAllele": "C", "start": 4433 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.4135C>T" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Arg1379Ter", "hgvsWellDefined": "NP_001340886.1:p.Arg1379_Lys1981delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827786155", "coordinates": [ { "allele": "T", "end": 4391, "referenceAllele": "C", "start": 4390 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.4135C>T" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Arg1379Ter", "hgvsWellDefined": "NP_001340887.1:p.Arg1379_Lys1981delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827789126", "coordinates": [ { "allele": "T", "end": 4523, "referenceAllele": "C", "start": 4522 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.4132C>T" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Arg1378Ter", "hgvsWellDefined": "NP_001340889.1:p.Arg1378_Lys1980delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "@id": "http://reg.genome.network/allele/PA916036771", "coordinates": [ { "allele": "T", "end": 4593, "referenceAllele": "C", "start": 4592 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.1777C>T" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Arg593Ter", "hgvsWellDefined": "NP_001340890.1:p.Arg593_Lys1195delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA266844", "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "C", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Arg1396Ter", "hgvsWellDefined": "NP_008851.3:p.Arg1396_Lys1998delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "T", "end": 4636, "referenceAllele": "C", "start": 4635 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.4636C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA266843", "coordinates": [ { "allele": "T", "end": 4697, "referenceAllele": "C", "start": 4696 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.4219C>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg1407Ter", "hgvsWellDefined": "NP_001159435.1:p.Arg1407_Lys2009delinsTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.4219C>T" }, "RefSeq": { "hgvs": "NM_001165963.4:c.4219C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Arg1407Ter" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Arg1407Ter" } } } } ], "type": "nucleotide" }