{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA273365", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4773620", "active": true, "id": "COSM4773620" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4773621", "active": true, "id": "COSM4773621" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4773622", "active": true, "id": "COSM4773622" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177069[alleleid]", "alleleId": 177069, "preferredName": "NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167639", "RCV": [ "RCV000153888", "RCV000188925", "RCV001040173", "RCV002316972", "RCV002492580" ], "variationId": 167639 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166868765G>A?assembly=hg19", "id": "chr2:g.166868765G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166012255G>A?assembly=hg38", "id": "chr2:g.166012255G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/727504136", "rs": 727504136 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166012255, "referenceAllele": "G", "start": 166012254 } ], "hgvs": [ "NC_000002.12:g.166012255G>A", "CM000664.2:g.166012255G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166868765, "referenceAllele": "G", "start": 166868764 } ], "hgvs": [ "NC_000002.11:g.166868765G>A", "CM000664.1:g.166868765G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166577011, "referenceAllele": "G", "start": 166577010 } ], "hgvs": [ "NC_000002.10:g.166577011G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 66385, "referenceAllele": "C", "start": 66384 } ], "hgvs": [ "NG_011906.1:g.66385C>T", "LRG_8:g.66385C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3876, "referenceAllele": "C", "start": 3875 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.*1769C>T" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:n.*1769C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "T", "end": 4124, "referenceAllele": "C", "start": 4123 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.3733C>T" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Arg1245Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "T", "end": 3917, "referenceAllele": "C", "start": 3916 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.3700C>T" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Arg1234Ter", "hgvsWellDefined": "ENSP00000490799.1:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "T", "end": 4002, "referenceAllele": "C", "start": 4001 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.3700C>T" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Arg1234Ter", "hgvsWellDefined": "ENSP00000490692.1:p.Arg1234_Lys1618delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyLysLysTyrLeuLysPheLeuAsnSerValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "T", "end": 4126, "referenceAllele": "C", "start": 4125 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.*1226C>T" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:n.*1226C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "T", "end": 531, "referenceAllele": "C", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637038.1:c.531C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763565" }, { "coordinates": [ { "allele": "T", "end": 3985, "referenceAllele": "C", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637968.1:n.3985C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764246" }, { "coordinates": [ { "allele": "T", "end": 4180, "referenceAllele": "C", "start": 4179 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.3700C>T" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Arg1234Ter", "hgvsWellDefined": "ENSP00000490780.1:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "T", "end": 3749, "referenceAllele": "C", "start": 3748 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.3700C>T" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Arg1234Ter", "hgvsWellDefined": "ENSP00000491573.1:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "T", "end": 3973, "referenceAllele": "C", "start": 3972 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.3697C>T" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Arg1233Ter", "hgvsWellDefined": "ENSP00000492917.1:p.Arg1233_Lys1997delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "T", "end": 3887, "referenceAllele": "C", "start": 3886 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.3733C>T" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Arg1245Ter", "hgvsWellDefined": "ENSP00000492945.1:p.Arg1245_Lys1915delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "T", "end": 4002, "referenceAllele": "C", "start": 4001 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*3287C>T" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*3287C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "T", "end": 3952, "referenceAllele": "C", "start": 3951 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.*1676C>T" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:n.*1676C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "T", "end": 6206, "referenceAllele": "C", "start": 6205 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.6206C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "T", "end": 4211, "referenceAllele": "C", "start": 4210 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.3733C>T" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Arg1245Ter", "hgvsWellDefined": "ENSP00000501589.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.3733C>T" }, "RefSeq": { "hgvs": "NM_001165963.4:c.3733C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Arg1245Ter" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Arg1245Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4151, "referenceAllele": "C", "start": 4150 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.3733C>T" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Arg1245Ter", "hgvsWellDefined": "ENSP00000303540.4:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "T", "end": 3718, "referenceAllele": "C", "start": 3717 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.3700C>T" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Arg1234Ter", "hgvsWellDefined": "ENSP00000364554.3:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "T", "end": 3649, "referenceAllele": "C", "start": 3648 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.3649C>T" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Arg1217Ter", "hgvsWellDefined": "ENSP00000386312.1:p.Arg1217_Lys1981delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "T", "end": 3809, "referenceAllele": "C", "start": 3808 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.3733C>T" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Arg1245Ter", "hgvsWellDefined": "ENSP00000407030.2:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "@id": "http://reg.genome.network/allele/PA273367", "coordinates": [ { "allele": "T", "end": 3751, "referenceAllele": "C", "start": 3750 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.3733C>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg1245Ter", "hgvsWellDefined": "NP_001159435.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826013019", "coordinates": [ { "allele": "T", "end": 3667, "referenceAllele": "C", "start": 3666 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.3649C>T" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Arg1217Ter", "hgvsWellDefined": "NP_001159436.1:p.Arg1217_Lys1981delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826259625", "coordinates": [ { "allele": "T", "end": 3960, "referenceAllele": "C", "start": 3959 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.3733C>T" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Arg1245Ter", "hgvsWellDefined": "NP_001189364.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA273368", "coordinates": [ { "allele": "T", "end": 3718, "referenceAllele": "C", "start": 3717 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.3700C>T", "LRG_8t1:c.3700C>T" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Arg1234Ter", "hgvsWellDefined": "NP_008851.3:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "A", "end": 175, "endIntronDirection": "-", "endIntronOffset": 3357, "referenceAllele": "G", "start": 175, "startIntronDirection": "-", "startIntronOffset": 3358 } ], "hgvs": [ "NR_110598.1:n.176-3358G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054761" }, { "coordinates": [ { "allele": "T", "end": 3917, "referenceAllele": "C", "start": 3916 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.3733C>T" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Arg1245Ter", "hgvsWellDefined": "XP_011509900.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "T", "end": 4132, "referenceAllele": "C", "start": 4131 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.3733C>T" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Arg1245Ter", "hgvsWellDefined": "XP_011509901.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "T", "end": 4008, "referenceAllele": "C", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.3733C>T" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Arg1245Ter", "hgvsWellDefined": "XP_011509902.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "T", "end": 4127, "referenceAllele": "C", "start": 4126 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.3733C>T" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Arg1245Ter", "hgvsWellDefined": "XP_011509903.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "T", "end": 4040, "referenceAllele": "C", "start": 4039 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.3733C>T" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Arg1245Ter", "hgvsWellDefined": "XP_011509904.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "T", "end": 3914, "referenceAllele": "C", "start": 3913 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.3730C>T" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Arg1244Ter", "hgvsWellDefined": "XP_011509905.1:p.Arg1244_Lys2008delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "T", "end": 3884, "referenceAllele": "C", "start": 3883 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.3700C>T" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Arg1234Ter", "hgvsWellDefined": "XP_011509906.1:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "T", "end": 3881, "referenceAllele": "C", "start": 3880 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.3697C>T" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Arg1233Ter", "hgvsWellDefined": "XP_011509907.1:p.Arg1233_Lys1997delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "T", "end": 3833, "referenceAllele": "C", "start": 3832 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.3649C>T" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Arg1217Ter", "hgvsWellDefined": "XP_011509908.1:p.Arg1217_Lys1981delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "T", "end": 3917, "referenceAllele": "C", "start": 3916 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.3733C>T" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Arg1245Ter", "hgvsWellDefined": "XP_011509909.1:p.Arg1245_Lys1915delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "T", "end": 3917, "referenceAllele": "C", "start": 3916 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.3917C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA273367", "coordinates": [ { "allele": "T", "end": 4230, "referenceAllele": "C", "start": 4229 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.3733C>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg1245Ter", "hgvsWellDefined": "NP_001159435.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826013019", "coordinates": [ { "allele": "T", "end": 4059, "referenceAllele": "C", "start": 4058 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.3649C>T" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Arg1217Ter", "hgvsWellDefined": "NP_001159436.1:p.Arg1217_Lys1981delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826259625", "coordinates": [ { "allele": "T", "end": 4044, "referenceAllele": "C", "start": 4043 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.3733C>T" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Arg1245Ter", "hgvsWellDefined": "NP_001189364.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827752820", "coordinates": [ { "allele": "T", "end": 4051, "referenceAllele": "C", "start": 4050 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.3733C>T" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Arg1245Ter", "hgvsWellDefined": "NP_001340877.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827759475", "coordinates": [ { "allele": "T", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.3700C>T" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Arg1234Ter", "hgvsWellDefined": "NP_001340878.1:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827766060", "coordinates": [ { "allele": "T", "end": 4011, "referenceAllele": "C", "start": 4010 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.3700C>T" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Arg1234Ter", "hgvsWellDefined": "NP_001340879.1:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827770992", "coordinates": [ { "allele": "T", "end": 4018, "referenceAllele": "C", "start": 4017 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.3700C>T" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Arg1234Ter", "hgvsWellDefined": "NP_001340880.1:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827773980", "coordinates": [ { "allele": "T", "end": 4110, "referenceAllele": "C", "start": 4109 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.3700C>T" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Arg1234Ter", "hgvsWellDefined": "NP_001340881.1:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827776967", "coordinates": [ { "allele": "T", "end": 4107, "referenceAllele": "C", "start": 4106 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.3697C>T" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Arg1233Ter", "hgvsWellDefined": "NP_001340883.1:p.Arg1233_Lys1997delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827779954", "coordinates": [ { "allele": "T", "end": 4015, "referenceAllele": "C", "start": 4014 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.3697C>T" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Arg1233Ter", "hgvsWellDefined": "NP_001340884.1:p.Arg1233_Lys1997delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827782926", "coordinates": [ { "allele": "T", "end": 3967, "referenceAllele": "C", "start": 3966 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.3649C>T" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Arg1217Ter", "hgvsWellDefined": "NP_001340886.1:p.Arg1217_Lys1981delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827785886", "coordinates": [ { "allele": "T", "end": 3960, "referenceAllele": "C", "start": 3959 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.3649C>T" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Arg1217Ter", "hgvsWellDefined": "NP_001340887.1:p.Arg1217_Lys1981delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827788857", "coordinates": [ { "allele": "T", "end": 4056, "referenceAllele": "C", "start": 4055 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.3646C>T" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Arg1216Ter", "hgvsWellDefined": "NP_001340889.1:p.Arg1216_Lys1980delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "@id": "http://reg.genome.network/allele/PA916036673", "coordinates": [ { "allele": "T", "end": 4126, "referenceAllele": "C", "start": 4125 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.1291C>T" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Arg431Ter", "hgvsWellDefined": "NP_001340890.1:p.Arg431_Lys1195delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA273368", "coordinates": [ { "allele": "T", "end": 4197, "referenceAllele": "C", "start": 4196 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.3700C>T" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Arg1234Ter", "hgvsWellDefined": "NP_008851.3:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "T", "end": 4105, "referenceAllele": "C", "start": 4104 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.4105C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "T", "end": 4119, "referenceAllele": "C", "start": 4118 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.4119C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "T", "end": 4091, "referenceAllele": "C", "start": 4090 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.4091C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA273367", "coordinates": [ { "allele": "T", "end": 4211, "referenceAllele": "C", "start": 4210 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.3733C>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg1245Ter", "hgvsWellDefined": "NP_001159435.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826013019", "coordinates": [ { "allele": "T", "end": 4040, "referenceAllele": "C", "start": 4039 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.3649C>T" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Arg1217Ter", "hgvsWellDefined": "NP_001159436.1:p.Arg1217_Lys1981delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826259625", "coordinates": [ { "allele": "T", "end": 3989, "referenceAllele": "C", "start": 3988 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.3733C>T" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Arg1245Ter", "hgvsWellDefined": "NP_001189364.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827752820", "coordinates": [ { "allele": "T", "end": 4032, "referenceAllele": "C", "start": 4031 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.3733C>T" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Arg1245Ter", "hgvsWellDefined": "NP_001340877.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827759475", "coordinates": [ { "allele": "T", "end": 3864, "referenceAllele": "C", "start": 3863 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.3700C>T" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Arg1234Ter", "hgvsWellDefined": "NP_001340878.1:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827766060", "coordinates": [ { "allele": "T", "end": 3956, "referenceAllele": "C", "start": 3955 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.3700C>T" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Arg1234Ter", "hgvsWellDefined": "NP_001340879.1:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827770992", "coordinates": [ { "allele": "T", "end": 3999, "referenceAllele": "C", "start": 3998 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.3700C>T" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Arg1234Ter", "hgvsWellDefined": "NP_001340880.1:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827773980", "coordinates": [ { "allele": "T", "end": 4091, "referenceAllele": "C", "start": 4090 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.3700C>T" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Arg1234Ter", "hgvsWellDefined": "NP_001340881.1:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827776967", "coordinates": [ { "allele": "T", "end": 4088, "referenceAllele": "C", "start": 4087 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.3697C>T" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Arg1233Ter", "hgvsWellDefined": "NP_001340883.1:p.Arg1233_Lys1997delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827779954", "coordinates": [ { "allele": "T", "end": 3996, "referenceAllele": "C", "start": 3995 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.3697C>T" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Arg1233Ter", "hgvsWellDefined": "NP_001340884.1:p.Arg1233_Lys1997delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827782926", "coordinates": [ { "allele": "T", "end": 3948, "referenceAllele": "C", "start": 3947 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.3649C>T" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Arg1217Ter", "hgvsWellDefined": "NP_001340886.1:p.Arg1217_Lys1981delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827785886", "coordinates": [ { "allele": "T", "end": 3905, "referenceAllele": "C", "start": 3904 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.3649C>T" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Arg1217Ter", "hgvsWellDefined": "NP_001340887.1:p.Arg1217_Lys1981delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827788857", "coordinates": [ { "allele": "T", "end": 4037, "referenceAllele": "C", "start": 4036 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.3646C>T" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Arg1216Ter", "hgvsWellDefined": "NP_001340889.1:p.Arg1216_Lys1980delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "@id": "http://reg.genome.network/allele/PA916036673", "coordinates": [ { "allele": "T", "end": 4107, "referenceAllele": "C", "start": 4106 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.1291C>T" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Arg431Ter", "hgvsWellDefined": "NP_001340890.1:p.Arg431_Lys1195delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA273368", "coordinates": [ { "allele": "T", "end": 4178, "referenceAllele": "C", "start": 4177 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.3700C>T" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Arg1234Ter", "hgvsWellDefined": "NP_008851.3:p.Arg1234_Lys1998delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "T", "end": 4086, "referenceAllele": "C", "start": 4085 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.4086C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA273367", "coordinates": [ { "allele": "T", "end": 4211, "referenceAllele": "C", "start": 4210 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.3733C>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg1245Ter", "hgvsWellDefined": "NP_001159435.1:p.Arg1245_Lys2009delinsLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.3733C>T" }, "RefSeq": { "hgvs": "NM_001165963.4:c.3733C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Arg1245Ter" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Arg1245Ter" } } } } ], "type": "nucleotide" }