{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340669637", "communityStandardTitle": [ "NM_002227.4(JAK1):c.1507C>T (p.Gln503Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.65321333G>A?assembly=hg19", "id": "chr1:g.65321333G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.64855650G>A?assembly=hg38", "id": "chr1:g.64855650G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2101050791", "rs": 2101050791 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 64855650, "referenceAllele": "G", "start": 64855649 } ], "hgvs": [ "NC_000001.11:g.64855650G>A", "CM000663.2:g.64855650G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 65321333, "referenceAllele": "G", "start": 65321332 } ], "hgvs": [ "NC_000001.10:g.65321333G>A", "CM000663.1:g.65321333G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 65093921, "referenceAllele": "G", "start": 65093920 } ], "hgvs": [ "NC_000001.9:g.65093921G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 115855, "referenceAllele": "C", "start": 115854 } ], "hgvs": [ "NG_023402.1:g.115855C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003843" }, { "coordinates": [ { "allele": "T", "end": 217097, "referenceAllele": "C", "start": 217096 } ], "hgvs": [ "NG_023402.2:g.217097C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616267" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1973, "referenceAllele": "C", "start": 1972 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000671746.2:c.*1415C>T" ], "proteinEffect": { "hgvs": "ENSP00000500065.1:n.*1415C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906534" }, { "coordinates": [ { "allele": "T", "end": 1904, "referenceAllele": "C", "start": 1903 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000671929.2:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000500485.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000500485.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906535" }, { "coordinates": [ { "allele": "T", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000671954.2:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000500841.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000500841.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906536" }, { "coordinates": [ { "allele": "T", "end": 1623, "referenceAllele": "C", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000672179.2:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000500296.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000500296.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906538" }, { "coordinates": [ { "allele": "T", "end": 1883, "referenceAllele": "C", "start": 1882 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000672247.2:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000499884.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000499884.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906539" }, { "coordinates": [ { "allele": "T", "end": 1972, "referenceAllele": "C", "start": 1971 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000672434.2:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000499900.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000499900.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906541" }, { "coordinates": [ { "allele": "T", "end": 1821, "referenceAllele": "C", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000672574.2:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000500714.2:p.Gln503Ter", "hgvsWellDefined": "ENSP00000500714.2:p.Gln503_Lys1119delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerTyrProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906542" }, { "coordinates": [ { "allele": "T", "end": 1735, "referenceAllele": "C", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000672751.2:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000500745.2:p.Gln503Ter", "hgvsWellDefined": "ENSP00000500745.2:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906543" }, { "coordinates": [ { "allele": "T", "end": 1674, "referenceAllele": "C", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000673246.2:c.1378C>T" ], "proteinEffect": { "hgvs": "ENSP00000499942.2:p.Gln460Ter", "hgvsWellDefined": "ENSP00000499942.2:p.Gln460_Lys1111delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906544" }, { "coordinates": [ { "allele": "T", "end": 1798, "referenceAllele": "C", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000673314.2:n.1798C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906545" }, { "coordinates": [ { "allele": "T", "end": 1958, "referenceAllele": "C", "start": 1957 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000673502.2:n.1958C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906546" }, { "coordinates": [ { "allele": "T", "end": 1885, "referenceAllele": "C", "start": 1884 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000699259.1:c.1504C>T" ], "proteinEffect": { "hgvs": "ENSP00000514240.1:p.Gln502Ter", "hgvsWellDefined": "ENSP00000514240.1:p.Gln502_Lys1153delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910199" }, { "coordinates": [ { "allele": "T", "end": 1818, "referenceAllele": "C", "start": 1817 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000699260.1:c.1504C>T" ], "proteinEffect": { "hgvs": "ENSP00000514241.1:p.Gln502Ter", "hgvsWellDefined": "ENSP00000514241.1:p.Gln502_Lys1153delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910200" }, { "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000699261.1:c.1504C>T" ], "proteinEffect": { "hgvs": "ENSP00000514242.1:p.Gln502Ter", "hgvsWellDefined": "ENSP00000514242.1:p.Gln502_Ser823delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluIleGlnIleLeuPheGlnLysLysAsnGlnGlnLeuLysTrpThrProHisIleLeuLysSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910201" }, { "coordinates": [ { "allele": "T", "end": 1724, "referenceAllele": "C", "start": 1723 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000699262.1:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000514243.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000514243.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910202" }, { "coordinates": [ { "allele": "T", "end": 1797, "referenceAllele": "C", "start": 1796 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000699310.1:c.1501C>T" ], "proteinEffect": { "hgvs": "ENSP00000514289.1:p.Gln501Ter", "hgvsWellDefined": "ENSP00000514289.1:p.Gln501_Lys1152delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910248" }, { "coordinates": [ { "allele": "T", "end": 1811, "referenceAllele": "C", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000699311.1:c.*167C>T" ], "proteinEffect": { "hgvs": "ENSP00000514290.1:n.*167C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910249" }, { "coordinates": [ { "allele": "T", "end": 1888, "referenceAllele": "C", "start": 1887 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000699312.1:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000514291.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000514291.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910250" }, { "coordinates": [ { "allele": "T", "end": 1811, "referenceAllele": "C", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000699313.1:c.*167C>T" ], "proteinEffect": { "hgvs": "ENSP00000514292.1:n.*167C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910251" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000342505.5:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000343204.4:p.Gln503Ter", "hgvsWellDefined": "ENSP00000343204.4:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748067", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342505.5:c.1507C>T" }, "RefSeq": { "hgvs": "NM_002227.4:c.1507C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000343204.4:p.Gln503Ter" }, "RefSeq": { "hgvs": "NP_002218.2:p.Gln503Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1973, "referenceAllele": "C", "start": 1972 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000671746.1:c.*1415C>T" ], "proteinEffect": { "hgvs": "ENSP00000500065.1:n.*1415C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773159" }, { "coordinates": [ { "allele": "T", "end": 1904, "referenceAllele": "C", "start": 1903 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000671929.1:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000500485.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000500485.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773214" }, { "coordinates": [ { "allele": "T", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000671954.1:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000500841.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000500841.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773222" }, { "coordinates": [ { "allele": "T", "end": 1623, "referenceAllele": "C", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000672179.1:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000500296.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000500296.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773301" }, { "coordinates": [ { "allele": "T", "end": 1784, "referenceAllele": "C", "start": 1783 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000672247.1:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000499884.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000499884.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773318" }, { "coordinates": [ { "allele": "T", "end": 1972, "referenceAllele": "C", "start": 1971 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000672434.1:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000499900.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000499900.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773384" }, { "coordinates": [ { "allele": "T", "end": 1622, "referenceAllele": "C", "start": 1621 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000673046.1:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000500878.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000500878.1:p.Gln503_Lys1152delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773580" }, { "coordinates": [ { "allele": "T", "end": 4754, "referenceAllele": "C", "start": 4753 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000673220.1:c.*4067C>T" ], "proteinEffect": { "hgvs": "ENSP00000500422.1:n.*4067C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773618" }, { "coordinates": [ { "allele": "T", "end": 1022, "referenceAllele": "C", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000673246.1:c.1022C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773632" }, { "coordinates": [ { "allele": "T", "end": 1672, "referenceAllele": "C", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000673254.1:c.1375C>T" ], "proteinEffect": { "hgvs": "ENSP00000500476.1:p.Gln459Ter", "hgvsWellDefined": "ENSP00000500476.1:p.Gln459_Lys1110delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773635" }, { "coordinates": [ { "allele": "T", "end": 1595, "referenceAllele": "C", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000673314.1:n.1595C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773647" }, { "coordinates": [ { "allele": "T", "end": 1958, "referenceAllele": "C", "start": 1957 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000673502.1:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000500011.1:p.Gln503Ter", "hgvsWellDefined": "ENSP00000500011.1:p.Gln503_Asp708delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluSerLysCysValLeuPheGlnArgGlyGlyTrpProGlyTrpGlyAlaTrpValLeuTrpArgTrpTrpArgLeuPheProProSerArgCysProGlyPheLeuProPhePheLeuGlnLeuArgArgLeuArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773705" }, { "coordinates": [ { "allele": "T", "end": 1756, "referenceAllele": "C", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "ENST00000342505.4:c.1507C>T" ], "proteinEffect": { "hgvs": "ENSP00000343204.4:p.Gln503Ter", "hgvsWellDefined": "ENSP00000343204.4:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261570" }, { "@id": "http://reg.genome.network/allele/PA3065875241", "coordinates": [ { "allele": "T", "end": 1756, "referenceAllele": "C", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_002227.2:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_002218.2:p.Gln503Ter", "hgvsWellDefined": "NP_002218.2:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027547" }, { "coordinates": [ { "allele": "T", "end": 1614, "referenceAllele": "C", "start": 1613 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "XM_005270841.1:c.1507C>T" ], "proteinEffect": { "hgvs": "XP_005270898.1:p.Gln503Ter", "hgvsWellDefined": "XP_005270898.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066681" }, { "coordinates": [ { "allele": "T", "end": 1668, "referenceAllele": "C", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "XM_006710624.1:c.1507C>T" ], "proteinEffect": { "hgvs": "XP_006710687.1:p.Gln503Ter", "hgvsWellDefined": "XP_006710687.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068722" }, { "coordinates": [ { "allele": "T", "end": 1763, "referenceAllele": "C", "start": 1762 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "XM_011541395.1:c.1504C>T" ], "proteinEffect": { "hgvs": "XP_011539697.1:p.Gln502Ter", "hgvsWellDefined": "XP_011539697.1:p.Gln502_Lys1153delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108332" }, { "coordinates": [ { "allele": "T", "end": 1724, "referenceAllele": "C", "start": 1723 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001320923.1:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_001307852.1:p.Gln503Ter", "hgvsWellDefined": "NP_001307852.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513902" }, { "coordinates": [ { "allele": "T", "end": 1727, "referenceAllele": "C", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001321852.1:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_001308781.1:p.Gln503Ter", "hgvsWellDefined": "NP_001308781.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514538" }, { "coordinates": [ { "allele": "T", "end": 1986, "referenceAllele": "C", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001321853.1:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_001308782.1:p.Gln503Ter", "hgvsWellDefined": "NP_001308782.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514539" }, { "coordinates": [ { "allele": "T", "end": 1902, "referenceAllele": "C", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001321854.1:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_001308783.1:p.Gln503Ter", "hgvsWellDefined": "NP_001308783.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514540" }, { "coordinates": [ { "allele": "T", "end": 1905, "referenceAllele": "C", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001321855.1:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_001308784.1:p.Gln503Ter", "hgvsWellDefined": "NP_001308784.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514541" }, { "coordinates": [ { "allele": "T", "end": 1640, "referenceAllele": "C", "start": 1639 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001321856.1:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_001308785.1:p.Gln503Ter", "hgvsWellDefined": "NP_001308785.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514542" }, { "coordinates": [ { "allele": "T", "end": 1818, "referenceAllele": "C", "start": 1817 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001321857.1:c.1504C>T" ], "proteinEffect": { "hgvs": "NP_001308786.1:p.Gln502Ter", "hgvsWellDefined": "NP_001308786.1:p.Gln502_Lys1153delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514543" }, { "@id": "http://reg.genome.network/allele/PA3065875241", "coordinates": [ { "allele": "T", "end": 1821, "referenceAllele": "C", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_002227.3:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_002218.2:p.Gln503Ter", "hgvsWellDefined": "NP_002218.2:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524973" }, { "@id": "http://reg.genome.network/allele/PA3065875241", "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_002227.4:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_002218.2:p.Gln503Ter", "hgvsWellDefined": "NP_002218.2:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665421", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342505.5:c.1507C>T" }, "RefSeq": { "hgvs": "NM_002227.4:c.1507C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000343204.4:p.Gln503Ter" }, "RefSeq": { "hgvs": "NP_002218.2:p.Gln503Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1727, "referenceAllele": "C", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001321852.2:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_001308781.1:p.Gln503Ter", "hgvsWellDefined": "NP_001308781.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685515" }, { "coordinates": [ { "allele": "T", "end": 1986, "referenceAllele": "C", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001321853.2:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_001308782.1:p.Gln503Ter", "hgvsWellDefined": "NP_001308782.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685516" }, { "coordinates": [ { "allele": "T", "end": 1902, "referenceAllele": "C", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001321854.2:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_001308783.1:p.Gln503Ter", "hgvsWellDefined": "NP_001308783.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685517" }, { "coordinates": [ { "allele": "T", "end": 1885, "referenceAllele": "C", "start": 1884 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001321855.2:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_001308784.1:p.Gln503Ter", "hgvsWellDefined": "NP_001308784.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685518" }, { "coordinates": [ { "allele": "T", "end": 1798, "referenceAllele": "C", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001321857.2:c.1504C>T" ], "proteinEffect": { "hgvs": "NP_001308786.1:p.Gln502Ter", "hgvsWellDefined": "NP_001308786.1:p.Gln502_Lys1153delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685519" }, { "coordinates": [ { "allele": "T", "end": 1724, "referenceAllele": "C", "start": 1723 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001320923.2:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_001307852.1:p.Gln503Ter", "hgvsWellDefined": "NP_001307852.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717863" }, { "coordinates": [ { "allele": "T", "end": 1640, "referenceAllele": "C", "start": 1639 } ], "gene": "http://reg.genome.network/gene/GN006190", "geneNCBI_id": 3716, "geneSymbol": "JAK1", "hgvs": [ "NM_001321856.2:c.1507C>T" ], "proteinEffect": { "hgvs": "NP_001308785.1:p.Gln503Ter", "hgvsWellDefined": "NP_001308785.1:p.Gln503_Lys1154delinsLysGlyArgTyrSerLeuHisGlySerAspArgSerPheProSerLeuGlyAspLeuMetSerHisLeuLysLysGlnIleLeuArgThrAspAsnIleSerPheMetLeuLysArgCysCysGlnProLysProArgGluIleSerAsnLeuLeuValAlaThrLysLysAlaGlnGluTrpGlnProValTyrProMetSerGlnLeuSerPheAspArgIleLeuLysLysAspLeuValGlnGlyGluHisLeuGlyArgGlyThrArgThrHisIleTyrSerGlyThrLeuMetAspTyrLysAspAspGluGlyThrSerGluGluLysLysIleLysValIleLeuLysValLeuAspProSerHisArgAspIleSerLeuAlaPhePheGluAlaAlaSerMetMetArgGlnValSerHisLysHisIleValTyrLeuTyrGlyValCysValArgAspValGluAsnIleMetValGluGluPheValGluGlyGlyProLeuAspLeuPheMetHisArgLysSerAspValLeuThrThrProTrpLysPheLysValAlaLysGlnLeuAlaSerAlaLeuSerTyrLeuGluAspLysAspLeuValHisGlyAsnValCysThrLysAsnLeuLeuLeuAlaArgGluGlyIleAspSerGluCysGlyProPheIleLysLeuSerAspProGlyIleProIleThrValLeuSerArgGlnGluCysIleGluArgIleProTrpIleAlaProGluCysValGluAspSerLysAsnLeuSerValAlaAlaAspLysTrpSerPheGlyThrThrLeuTrpGluIleCysTyrAsnGlyGluIleProLeuLysAspLysThrLeuIleGluLysGluArgPheTyrGluSerArgCysArgProValThrProSerCysLysGluLeuAlaAspLeuMetThrArgCysMetAsnTyrAspProAsnGlnArgProPhePheArgAlaIleMetArgAspIleAsnLysLeuGluGluGlnAsnProAspIleValSerGluLysLysProAlaThrGluValAspProThrHisPheGluLysArgPheLeuLysArgIleArgAspLeuGlyGluGlyHisPheGlyLysValGluLeuCysArgTyrAspProGluGlyAspAsnThrGlyGluGlnValAlaValLysSerLeuLysProGluSerGlyGlyAsnHisIleAlaAspLeuLysLysGluIleGluIleLeuArgAsnLeuTyrHisGluAsnIleValLysTyrLysGlyIleCysThrGluAspGlyGlyAsnGlyIleLysLeuIleMetGluPheLeuProSerGlySerLeuLysGluTyrLeuProLysAsnLysAsnLysIleAsnLeuLysGlnGlnLeuLysTyrAlaValGlnIleCysLysGlyMetAspTyrLeuGlySerArgGlnTyrValHisArgAspLeuAlaAlaArgAsnValLeuValGluSerGluHisGlnValLysIleGlyAspPheGlyLeuThrLysAlaIleGluThrAspLysGluTyrTyrThrValLysAspAspArgAspSerProValPheTrpTyrAlaProGluCysLeuMetGlnSerLysPheTyrIleAlaSerAspValTrpSerPheGlyValThrLeuHisGluLeuLeuThrTyrCysAspSerAspSerSerProMetAlaLeuPheLeuLysMetIleGlyProThrHisGlyGlnMetThrValThrArgLeuValAsnThrLeuLysGluGlyLysArgLeuProCysProProAsnCysProAspGluValTyrGlnLeuMetArgLysCysTrpGluPheGlnProSerAsnArgThrSerPheGlnAsnLeuIleGluGlyPheGluAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718014" } ], "type": "nucleotide" }