{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA303218", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187778[alleleid]", "alleleId": 187778, "preferredName": "NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189889", "RCV": [ "RCV000180841" ], "variationId": 189889 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166872228C>A?assembly=hg19", "id": "chr2:g.166872228C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166015718C>A?assembly=hg38", "id": "chr2:g.166015718C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/794726733", "rs": 794726733 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166015718, "referenceAllele": "C", "start": 166015717 } ], "hgvs": [ "NC_000002.12:g.166015718C>A", "CM000664.2:g.166015718C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166872228, "referenceAllele": "C", "start": 166872227 } ], "hgvs": [ "NC_000002.11:g.166872228C>A", "CM000664.1:g.166872228C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166580474, "referenceAllele": "C", "start": 166580473 } ], "hgvs": [ "NC_000002.10:g.166580474C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 62922, "referenceAllele": "G", "start": 62921 } ], "hgvs": [ "NG_011906.1:g.62922G>T", "LRG_8:g.62922G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3582, "referenceAllele": "G", "start": 3581 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.*1475G>T" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:n.*1475G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "G", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.3439G>T" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Glu1147Ter", "hgvsWellDefined": "ENSP00000303540.4:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "T", "end": 3623, "referenceAllele": "G", "start": 3622 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.3406G>T" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Glu1136Ter", "hgvsWellDefined": "ENSP00000490799.1:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "T", "end": 3708, "referenceAllele": "G", "start": 3707 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.3406G>T" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Glu1136Ter", "hgvsWellDefined": "ENSP00000490692.1:p.Glu1136_Lys1618delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyLysLysTyrLeuLysPheLeuAsnSerValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "T", "end": 3832, "referenceAllele": "G", "start": 3831 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.*932G>T" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:n.*932G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "T", "end": 237, "referenceAllele": "G", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637038.1:c.237G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763565" }, { "coordinates": [ { "allele": "T", "end": 3691, "referenceAllele": "G", "start": 3690 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637968.1:n.3691G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764246" }, { "coordinates": [ { "allele": "T", "end": 3886, "referenceAllele": "G", "start": 3885 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.3406G>T" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Glu1136Ter", "hgvsWellDefined": "ENSP00000490780.1:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "T", "end": 3455, "referenceAllele": "G", "start": 3454 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.3406G>T" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Glu1136Ter", "hgvsWellDefined": "ENSP00000491573.1:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "T", "end": 3679, "referenceAllele": "G", "start": 3678 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.3403G>T" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Glu1135Ter", "hgvsWellDefined": "ENSP00000492917.1:p.Glu1135_Lys1997delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "T", "end": 3593, "referenceAllele": "G", "start": 3592 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.3439G>T" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Glu1147Ter", "hgvsWellDefined": "ENSP00000492945.1:p.Glu1147_Lys1915delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "T", "end": 3708, "referenceAllele": "G", "start": 3707 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*2993G>T" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*2993G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "T", "end": 3658, "referenceAllele": "G", "start": 3657 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.*1382G>T" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:n.*1382G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "T", "end": 5912, "referenceAllele": "G", "start": 5911 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.5912G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "T", "end": 3917, "referenceAllele": "G", "start": 3916 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.3439G>T" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Glu1147Ter", "hgvsWellDefined": "ENSP00000501589.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.3439G>T" }, "RefSeq": { "hgvs": "NM_001165963.4:c.3439G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Glu1147Ter" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Glu1147Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3857, "referenceAllele": "G", "start": 3856 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.3439G>T" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Glu1147Ter", "hgvsWellDefined": "ENSP00000303540.4:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "T", "end": 3424, "referenceAllele": "G", "start": 3423 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.3406G>T" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Glu1136Ter", "hgvsWellDefined": "ENSP00000364554.3:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "T", "end": 3355, "referenceAllele": "G", "start": 3354 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.3355G>T" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Glu1119Ter", "hgvsWellDefined": "ENSP00000386312.1:p.Glu1119_Lys1981delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "T", "end": 3515, "referenceAllele": "G", "start": 3514 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.3439G>T" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Glu1147Ter", "hgvsWellDefined": "ENSP00000407030.2:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "@id": "http://reg.genome.network/allele/PA303221", "coordinates": [ { "allele": "T", "end": 3457, "referenceAllele": "G", "start": 3456 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.3439G>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Glu1147Ter", "hgvsWellDefined": "NP_001159435.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826012867", "coordinates": [ { "allele": "T", "end": 3373, "referenceAllele": "G", "start": 3372 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.3355G>T" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Glu1119Ter", "hgvsWellDefined": "NP_001159436.1:p.Glu1119_Lys1981delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826259473", "coordinates": [ { "allele": "T", "end": 3666, "referenceAllele": "G", "start": 3665 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.3439G>T" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Glu1147Ter", "hgvsWellDefined": "NP_001189364.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA303220", "coordinates": [ { "allele": "T", "end": 3424, "referenceAllele": "G", "start": 3423 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.3406G>T", "LRG_8t1:c.3406G>T" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Glu1136Ter", "hgvsWellDefined": "NP_008851.3:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "A", "end": 281, "referenceAllele": "C", "start": 280 } ], "hgvs": [ "NR_110598.1:n.281C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054761" }, { "coordinates": [ { "allele": "T", "end": 3623, "referenceAllele": "G", "start": 3622 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.3439G>T" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Glu1147Ter", "hgvsWellDefined": "XP_011509900.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "T", "end": 3838, "referenceAllele": "G", "start": 3837 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.3439G>T" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Glu1147Ter", "hgvsWellDefined": "XP_011509901.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "T", "end": 3714, "referenceAllele": "G", "start": 3713 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.3439G>T" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Glu1147Ter", "hgvsWellDefined": "XP_011509902.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "T", "end": 3833, "referenceAllele": "G", "start": 3832 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.3439G>T" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Glu1147Ter", "hgvsWellDefined": "XP_011509903.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "T", "end": 3746, "referenceAllele": "G", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.3439G>T" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Glu1147Ter", "hgvsWellDefined": "XP_011509904.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "T", "end": 3620, "referenceAllele": "G", "start": 3619 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.3436G>T" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Glu1146Ter", "hgvsWellDefined": "XP_011509905.1:p.Glu1146_Lys2008delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "T", "end": 3590, "referenceAllele": "G", "start": 3589 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.3406G>T" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Glu1136Ter", "hgvsWellDefined": "XP_011509906.1:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "T", "end": 3587, "referenceAllele": "G", "start": 3586 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.3403G>T" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Glu1135Ter", "hgvsWellDefined": "XP_011509907.1:p.Glu1135_Lys1997delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "T", "end": 3539, "referenceAllele": "G", "start": 3538 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.3355G>T" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Glu1119Ter", "hgvsWellDefined": "XP_011509908.1:p.Glu1119_Lys1981delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "T", "end": 3623, "referenceAllele": "G", "start": 3622 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.3439G>T" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Glu1147Ter", "hgvsWellDefined": "XP_011509909.1:p.Glu1147_Lys1915delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "T", "end": 3623, "referenceAllele": "G", "start": 3622 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.3623G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA303221", "coordinates": [ { "allele": "T", "end": 3936, "referenceAllele": "G", "start": 3935 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.3439G>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Glu1147Ter", "hgvsWellDefined": "NP_001159435.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826012867", "coordinates": [ { "allele": "T", "end": 3765, "referenceAllele": "G", "start": 3764 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.3355G>T" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Glu1119Ter", "hgvsWellDefined": "NP_001159436.1:p.Glu1119_Lys1981delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826259473", "coordinates": [ { "allele": "T", "end": 3750, "referenceAllele": "G", "start": 3749 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.3439G>T" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Glu1147Ter", "hgvsWellDefined": "NP_001189364.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827752451", "coordinates": [ { "allele": "T", "end": 3757, "referenceAllele": "G", "start": 3756 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.3439G>T" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Glu1147Ter", "hgvsWellDefined": "NP_001340877.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827759123", "coordinates": [ { "allele": "T", "end": 3625, "referenceAllele": "G", "start": 3624 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.3406G>T" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Glu1136Ter", "hgvsWellDefined": "NP_001340878.1:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827765714", "coordinates": [ { "allele": "T", "end": 3717, "referenceAllele": "G", "start": 3716 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.3406G>T" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Glu1136Ter", "hgvsWellDefined": "NP_001340879.1:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827770840", "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "G", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.3406G>T" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Glu1136Ter", "hgvsWellDefined": "NP_001340880.1:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827773828", "coordinates": [ { "allele": "T", "end": 3816, "referenceAllele": "G", "start": 3815 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.3406G>T" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Glu1136Ter", "hgvsWellDefined": "NP_001340881.1:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827776815", "coordinates": [ { "allele": "T", "end": 3813, "referenceAllele": "G", "start": 3812 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.3403G>T" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Glu1135Ter", "hgvsWellDefined": "NP_001340883.1:p.Glu1135_Lys1997delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827779801", "coordinates": [ { "allele": "T", "end": 3721, "referenceAllele": "G", "start": 3720 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.3403G>T" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Glu1135Ter", "hgvsWellDefined": "NP_001340884.1:p.Glu1135_Lys1997delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827782773", "coordinates": [ { "allele": "T", "end": 3673, "referenceAllele": "G", "start": 3672 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.3355G>T" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Glu1119Ter", "hgvsWellDefined": "NP_001340886.1:p.Glu1119_Lys1981delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827785734", "coordinates": [ { "allele": "T", "end": 3666, "referenceAllele": "G", "start": 3665 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.3355G>T" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Glu1119Ter", "hgvsWellDefined": "NP_001340887.1:p.Glu1119_Lys1981delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827788705", "coordinates": [ { "allele": "T", "end": 3762, "referenceAllele": "G", "start": 3761 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.3352G>T" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Glu1118Ter", "hgvsWellDefined": "NP_001340889.1:p.Glu1118_Lys1980delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "@id": "http://reg.genome.network/allele/PA916036622", "coordinates": [ { "allele": "T", "end": 3832, "referenceAllele": "G", "start": 3831 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.997G>T" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Glu333Ter", "hgvsWellDefined": "NP_001340890.1:p.Glu333_Lys1195delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA303220", "coordinates": [ { "allele": "T", "end": 3903, "referenceAllele": "G", "start": 3902 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.3406G>T" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Glu1136Ter", "hgvsWellDefined": "NP_008851.3:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "T", "end": 3811, "referenceAllele": "G", "start": 3810 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.3811G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "T", "end": 3825, "referenceAllele": "G", "start": 3824 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.3825G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "T", "end": 3797, "referenceAllele": "G", "start": 3796 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.3797G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA303221", "coordinates": [ { "allele": "T", "end": 3917, "referenceAllele": "G", "start": 3916 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.3439G>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Glu1147Ter", "hgvsWellDefined": "NP_001159435.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826012867", "coordinates": [ { "allele": "T", "end": 3746, "referenceAllele": "G", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.3355G>T" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Glu1119Ter", "hgvsWellDefined": "NP_001159436.1:p.Glu1119_Lys1981delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826259473", "coordinates": [ { "allele": "T", "end": 3695, "referenceAllele": "G", "start": 3694 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.3439G>T" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Glu1147Ter", "hgvsWellDefined": "NP_001189364.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827752451", "coordinates": [ { "allele": "T", "end": 3738, "referenceAllele": "G", "start": 3737 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.3439G>T" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Glu1147Ter", "hgvsWellDefined": "NP_001340877.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827759123", "coordinates": [ { "allele": "T", "end": 3570, "referenceAllele": "G", "start": 3569 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.3406G>T" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Glu1136Ter", "hgvsWellDefined": "NP_001340878.1:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827765714", "coordinates": [ { "allele": "T", "end": 3662, "referenceAllele": "G", "start": 3661 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.3406G>T" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Glu1136Ter", "hgvsWellDefined": "NP_001340879.1:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827770840", "coordinates": [ { "allele": "T", "end": 3705, "referenceAllele": "G", "start": 3704 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.3406G>T" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Glu1136Ter", "hgvsWellDefined": "NP_001340880.1:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827773828", "coordinates": [ { "allele": "T", "end": 3797, "referenceAllele": "G", "start": 3796 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.3406G>T" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Glu1136Ter", "hgvsWellDefined": "NP_001340881.1:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827776815", "coordinates": [ { "allele": "T", "end": 3794, "referenceAllele": "G", "start": 3793 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.3403G>T" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Glu1135Ter", "hgvsWellDefined": "NP_001340883.1:p.Glu1135_Lys1997delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827779801", "coordinates": [ { "allele": "T", "end": 3702, "referenceAllele": "G", "start": 3701 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.3403G>T" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Glu1135Ter", "hgvsWellDefined": "NP_001340884.1:p.Glu1135_Lys1997delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827782773", "coordinates": [ { "allele": "T", "end": 3654, "referenceAllele": "G", "start": 3653 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.3355G>T" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Glu1119Ter", "hgvsWellDefined": "NP_001340886.1:p.Glu1119_Lys1981delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827785734", "coordinates": [ { "allele": "T", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.3355G>T" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Glu1119Ter", "hgvsWellDefined": "NP_001340887.1:p.Glu1119_Lys1981delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827788705", "coordinates": [ { "allele": "T", "end": 3743, "referenceAllele": "G", "start": 3742 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.3352G>T" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Glu1118Ter", "hgvsWellDefined": "NP_001340889.1:p.Glu1118_Lys1980delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "@id": "http://reg.genome.network/allele/PA916036622", "coordinates": [ { "allele": "T", "end": 3813, "referenceAllele": "G", "start": 3812 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.997G>T" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Glu333Ter", "hgvsWellDefined": "NP_001340890.1:p.Glu333_Lys1195delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA303220", "coordinates": [ { "allele": "T", "end": 3884, "referenceAllele": "G", "start": 3883 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.3406G>T" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Glu1136Ter", "hgvsWellDefined": "NP_008851.3:p.Glu1136_Lys1998delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "T", "end": 3792, "referenceAllele": "G", "start": 3791 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.3792G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA303221", "coordinates": [ { "allele": "T", "end": 3917, "referenceAllele": "G", "start": 3916 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.3439G>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Glu1147Ter", "hgvsWellDefined": "NP_001159435.1:p.Glu1147_Lys2009delinsSerSerSerSerSerGluGlySerThrValAspIleGlyAlaProValGluGluGlnProValValGluProGluGluThrLeuGluProGluAlaCysPheThrGluGlyCysValGlnArgPheLysCysCysGlnIleAsnValGluGluGlyArgGlyLysGlnTrpTrpAsnLeuArgArgThrCysPheArgIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleAspGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyTyrGlnThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnThrThrThrGlyAspArgPheAspIleGluAspValAsnAsnHisThrAspCysLeuLysLeuIleGluArgAsnGluThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyPheGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluGluSerLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyAsnLysPheGlnGlyMetValPheAspPheValThrArgGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGluTyrValThrThrIleLeuSerArgIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.3439G>T" }, "RefSeq": { "hgvs": "NM_001165963.4:c.3439G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Glu1147Ter" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Glu1147Ter" } } } } ], "type": "nucleotide" }