{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA325459", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213800[alleleid]", "alleleId": 213800, "preferredName": "NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217244", "RCV": [ "RCV000201129" ], "variationId": 217244 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166870302C>T?assembly=hg19", "id": "chr2:g.166870302C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166013792C>T?assembly=hg38", "id": "chr2:g.166013792C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/863225033", "rs": 863225033 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166013792, "referenceAllele": "C", "start": 166013791 } ], "hgvs": [ "NC_000002.12:g.166013792C>T", "CM000664.2:g.166013792C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166870302, "referenceAllele": "C", "start": 166870301 } ], "hgvs": [ "NC_000002.11:g.166870302C>T", "CM000664.1:g.166870302C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166578548, "referenceAllele": "C", "start": 166578547 } ], "hgvs": [ "NC_000002.10:g.166578548C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 64848, "referenceAllele": "G", "start": 64847 } ], "hgvs": [ "NG_011906.1:g.64848G>A", "LRG_8:g.64848G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], 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}, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "A", "end": 3841, "referenceAllele": "G", "start": 3840 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.3624G>A" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Trp1208Ter", "hgvsWellDefined": "ENSP00000490799.1:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "A", "end": 3926, "referenceAllele": "G", "start": 3925 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.3624G>A" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Trp1208Ter", "hgvsWellDefined": "ENSP00000490692.1:p.Trp1208_Lys1618delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyLysLysTyrLeuLysPheLeuAsnSerValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "A", "end": 4050, "referenceAllele": "G", "start": 4049 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.*1150G>A" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:n.*1150G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "A", "end": 455, "referenceAllele": "G", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637038.1:c.455G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763565" }, { "coordinates": [ { "allele": "A", "end": 3909, "referenceAllele": "G", "start": 3908 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637968.1:n.3909G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764246" }, { "coordinates": [ { "allele": "A", "end": 4104, "referenceAllele": "G", "start": 4103 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.3624G>A" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Trp1208Ter", "hgvsWellDefined": "ENSP00000490780.1:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "A", "end": 3673, "referenceAllele": "G", "start": 3672 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.3624G>A" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Trp1208Ter", "hgvsWellDefined": "ENSP00000491573.1:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "A", "end": 3897, "referenceAllele": "G", "start": 3896 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.3621G>A" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Trp1207Ter", "hgvsWellDefined": "ENSP00000492917.1:p.Trp1207_Lys1997delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "A", "end": 3811, "referenceAllele": "G", "start": 3810 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.3657G>A" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Trp1219Ter", "hgvsWellDefined": "ENSP00000492945.1:p.Trp1219_Lys1915delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "A", "end": 3926, "referenceAllele": "G", "start": 3925 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*3211G>A" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*3211G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "A", "end": 3876, "referenceAllele": "G", "start": 3875 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.*1600G>A" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:n.*1600G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "A", "end": 6130, "referenceAllele": "G", "start": 6129 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.6130G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "A", "end": 4135, "referenceAllele": "G", "start": 4134 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.3657G>A" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Trp1219Ter", "hgvsWellDefined": "ENSP00000501589.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.3657G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.3657G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Trp1219Ter" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Trp1219Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4075, "referenceAllele": "G", "start": 4074 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.3657G>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Trp1219Ter", "hgvsWellDefined": "ENSP00000303540.4:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "A", "end": 3642, "referenceAllele": "G", "start": 3641 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.3624G>A" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Trp1208Ter", "hgvsWellDefined": "ENSP00000364554.3:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "A", "end": 3573, "referenceAllele": "G", "start": 3572 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.3573G>A" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Trp1191Ter", "hgvsWellDefined": "ENSP00000386312.1:p.Trp1191_Lys1981delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "A", "end": 3733, "referenceAllele": "G", "start": 3732 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.3657G>A" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Trp1219Ter", "hgvsWellDefined": "ENSP00000407030.2:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "@id": "http://reg.genome.network/allele/PA325462", "coordinates": [ { "allele": "A", "end": 3675, "referenceAllele": "G", "start": 3674 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.3657G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Trp1219Ter", "hgvsWellDefined": "NP_001159435.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826012964", "coordinates": [ { "allele": "A", "end": 3591, "referenceAllele": "G", "start": 3590 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.3573G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Trp1191Ter", "hgvsWellDefined": "NP_001159436.1:p.Trp1191_Lys1981delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826259569", "coordinates": [ { "allele": "A", "end": 3884, "referenceAllele": "G", "start": 3883 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.3657G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Trp1219Ter", "hgvsWellDefined": "NP_001189364.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA325461", "coordinates": [ { "allele": "A", "end": 3642, "referenceAllele": "G", "start": 3641 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.3624G>A", "LRG_8t1:c.3624G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Trp1208Ter", "hgvsWellDefined": "NP_008851.3:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "T", "end": 175, "endIntronDirection": "-", "endIntronOffset": 1820, "referenceAllele": "C", "start": 175, "startIntronDirection": "-", "startIntronOffset": 1821 } ], "hgvs": [ "NR_110598.1:n.176-1821C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS054761" }, { "coordinates": [ { "allele": "A", "end": 3841, "referenceAllele": "G", "start": 3840 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.3657G>A" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Trp1219Ter", "hgvsWellDefined": "XP_011509900.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "A", "end": 4056, "referenceAllele": "G", "start": 4055 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.3657G>A" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Trp1219Ter", "hgvsWellDefined": "XP_011509901.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "A", "end": 3932, "referenceAllele": "G", "start": 3931 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.3657G>A" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Trp1219Ter", "hgvsWellDefined": "XP_011509902.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "A", "end": 4051, "referenceAllele": "G", "start": 4050 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.3657G>A" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Trp1219Ter", "hgvsWellDefined": "XP_011509903.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "A", "end": 3964, "referenceAllele": "G", "start": 3963 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.3657G>A" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Trp1219Ter", "hgvsWellDefined": "XP_011509904.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "A", "end": 3838, "referenceAllele": "G", "start": 3837 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.3654G>A" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Trp1218Ter", "hgvsWellDefined": "XP_011509905.1:p.Trp1218_Lys2008delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "A", "end": 3808, "referenceAllele": "G", "start": 3807 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.3624G>A" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Trp1208Ter", "hgvsWellDefined": "XP_011509906.1:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "A", "end": 3805, "referenceAllele": "G", "start": 3804 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.3621G>A" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Trp1207Ter", "hgvsWellDefined": "XP_011509907.1:p.Trp1207_Lys1997delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "A", "end": 3757, "referenceAllele": "G", "start": 3756 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.3573G>A" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Trp1191Ter", "hgvsWellDefined": "XP_011509908.1:p.Trp1191_Lys1981delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "A", "end": 3841, "referenceAllele": "G", "start": 3840 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.3657G>A" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Trp1219Ter", "hgvsWellDefined": "XP_011509909.1:p.Trp1219_Lys1915delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "A", "end": 3841, "referenceAllele": "G", "start": 3840 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.3841G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA325462", "coordinates": [ { "allele": "A", "end": 4154, "referenceAllele": "G", "start": 4153 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.3657G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Trp1219Ter", "hgvsWellDefined": "NP_001159435.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826012964", "coordinates": [ { "allele": "A", "end": 3983, "referenceAllele": "G", "start": 3982 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.3573G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Trp1191Ter", "hgvsWellDefined": "NP_001159436.1:p.Trp1191_Lys1981delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826259569", "coordinates": [ { "allele": "A", "end": 3968, "referenceAllele": "G", "start": 3967 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.3657G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Trp1219Ter", "hgvsWellDefined": "NP_001189364.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827752680", "coordinates": [ { "allele": "A", "end": 3975, "referenceAllele": "G", "start": 3974 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.3657G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Trp1219Ter", "hgvsWellDefined": "NP_001340877.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827759332", "coordinates": [ { "allele": "A", "end": 3843, "referenceAllele": "G", "start": 3842 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.3624G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Trp1208Ter", "hgvsWellDefined": "NP_001340878.1:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827765933", "coordinates": [ { "allele": "A", "end": 3935, "referenceAllele": "G", "start": 3934 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.3624G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Trp1208Ter", "hgvsWellDefined": "NP_001340879.1:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827770938", "coordinates": [ { "allele": "A", "end": 3942, "referenceAllele": "G", "start": 3941 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.3624G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Trp1208Ter", "hgvsWellDefined": "NP_001340880.1:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827773926", "coordinates": [ { "allele": "A", "end": 4034, "referenceAllele": "G", "start": 4033 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.3624G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Trp1208Ter", "hgvsWellDefined": "NP_001340881.1:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827776912", "coordinates": [ { "allele": "A", "end": 4031, "referenceAllele": "G", "start": 4030 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.3621G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Trp1207Ter", "hgvsWellDefined": "NP_001340883.1:p.Trp1207_Lys1997delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827779899", "coordinates": [ { "allele": "A", "end": 3939, "referenceAllele": "G", "start": 3938 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.3621G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Trp1207Ter", "hgvsWellDefined": "NP_001340884.1:p.Trp1207_Lys1997delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827782871", "coordinates": [ { "allele": "A", "end": 3891, "referenceAllele": "G", "start": 3890 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.3573G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Trp1191Ter", "hgvsWellDefined": "NP_001340886.1:p.Trp1191_Lys1981delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827785831", "coordinates": [ { "allele": "A", "end": 3884, "referenceAllele": "G", "start": 3883 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.3573G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Trp1191Ter", "hgvsWellDefined": "NP_001340887.1:p.Trp1191_Lys1981delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827788802", "coordinates": [ { "allele": "A", "end": 3980, "referenceAllele": "G", "start": 3979 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.3570G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Trp1190Ter", "hgvsWellDefined": "NP_001340889.1:p.Trp1190_Lys1980delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "@id": "http://reg.genome.network/allele/PA916036655", "coordinates": [ { "allele": "A", "end": 4050, "referenceAllele": "G", "start": 4049 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.1215G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Trp405Ter", "hgvsWellDefined": "NP_001340890.1:p.Trp405_Lys1195delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA325461", "coordinates": [ { "allele": "A", "end": 4121, "referenceAllele": "G", "start": 4120 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.3624G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Trp1208Ter", "hgvsWellDefined": "NP_008851.3:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "A", "end": 4029, "referenceAllele": "G", "start": 4028 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.4029G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "A", "end": 4043, "referenceAllele": "G", "start": 4042 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.4043G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "A", "end": 4015, "referenceAllele": "G", "start": 4014 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.4015G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA325462", "coordinates": [ { "allele": "A", "end": 4135, "referenceAllele": "G", "start": 4134 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.3657G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Trp1219Ter", "hgvsWellDefined": "NP_001159435.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826012964", "coordinates": [ { "allele": "A", "end": 3964, "referenceAllele": "G", "start": 3963 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.3573G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Trp1191Ter", "hgvsWellDefined": "NP_001159436.1:p.Trp1191_Lys1981delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826259569", "coordinates": [ { "allele": "A", "end": 3913, "referenceAllele": "G", "start": 3912 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.3657G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Trp1219Ter", "hgvsWellDefined": "NP_001189364.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827752680", "coordinates": [ { "allele": "A", "end": 3956, "referenceAllele": "G", "start": 3955 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.3657G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Trp1219Ter", "hgvsWellDefined": "NP_001340877.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827759332", "coordinates": [ { "allele": "A", "end": 3788, "referenceAllele": "G", "start": 3787 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.3624G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Trp1208Ter", "hgvsWellDefined": "NP_001340878.1:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827765933", "coordinates": [ { "allele": "A", "end": 3880, "referenceAllele": "G", "start": 3879 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.3624G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Trp1208Ter", "hgvsWellDefined": "NP_001340879.1:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827770938", "coordinates": [ { "allele": "A", "end": 3923, "referenceAllele": "G", "start": 3922 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.3624G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Trp1208Ter", "hgvsWellDefined": "NP_001340880.1:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827773926", "coordinates": [ { "allele": "A", "end": 4015, "referenceAllele": "G", "start": 4014 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.3624G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Trp1208Ter", "hgvsWellDefined": "NP_001340881.1:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827776912", "coordinates": [ { "allele": "A", "end": 4012, "referenceAllele": "G", "start": 4011 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.3621G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Trp1207Ter", "hgvsWellDefined": "NP_001340883.1:p.Trp1207_Lys1997delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827779899", "coordinates": [ { "allele": "A", "end": 3920, "referenceAllele": "G", "start": 3919 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.3621G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Trp1207Ter", "hgvsWellDefined": "NP_001340884.1:p.Trp1207_Lys1997delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827782871", "coordinates": [ { "allele": "A", "end": 3872, "referenceAllele": "G", "start": 3871 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.3573G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Trp1191Ter", "hgvsWellDefined": "NP_001340886.1:p.Trp1191_Lys1981delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827785831", "coordinates": [ { "allele": "A", "end": 3829, "referenceAllele": "G", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.3573G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Trp1191Ter", "hgvsWellDefined": "NP_001340887.1:p.Trp1191_Lys1981delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827788802", "coordinates": [ { "allele": "A", "end": 3961, "referenceAllele": "G", "start": 3960 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.3570G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Trp1190Ter", "hgvsWellDefined": "NP_001340889.1:p.Trp1190_Lys1980delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "@id": "http://reg.genome.network/allele/PA916036655", "coordinates": [ { "allele": "A", "end": 4031, "referenceAllele": "G", "start": 4030 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.1215G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Trp405Ter", "hgvsWellDefined": "NP_001340890.1:p.Trp405_Lys1195delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA325461", "coordinates": [ { "allele": "A", "end": 4102, "referenceAllele": "G", "start": 4101 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.3624G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Trp1208Ter", "hgvsWellDefined": "NP_008851.3:p.Trp1208_Lys1998delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "A", "end": 4010, "referenceAllele": "G", "start": 4009 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.4010G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA325462", "coordinates": [ { "allele": "A", "end": 4135, "referenceAllele": "G", "start": 4134 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.3657G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Trp1219Ter", "hgvsWellDefined": "NP_001159435.1:p.Trp1219_Lys2009delinsPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.3657G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.3657G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Trp1219Ter" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Trp1219Ter" } } } } ], "type": "nucleotide" }