{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8052208", "communityStandardTitle": [ "NM_001378743.1(CYLD):c.550A>T (p.Lys184Ter)" ], "externalRecords": { "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-50785560-A-T", "id": "16-50785560-A-T", "variant": "16:50785560 A / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.50785560A>T?assembly=hg19", "id": "chr16:g.50785560A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.50751649A>T?assembly=hg38", "id": "chr16:g.50751649A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/758217895", "rs": 758217895 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-50785560-A-T?dataset=gnomad_r2_1", "id": "16-50785560-A-T", "variant": "16:50785560 A / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 50751649, "referenceAllele": "A", "start": 50751648 } ], "hgvs": [ "NC_000016.10:g.50751649A>T", "CM000678.2:g.50751649A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 50785560, "referenceAllele": "A", "start": 50785559 } ], "hgvs": [ "NC_000016.9:g.50785560A>T", "CM000678.1:g.50785560A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 49343061, "referenceAllele": "A", "start": 49343060 } ], "hgvs": [ "NC_000016.8:g.49343061A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 14600, "referenceAllele": "A", "start": 14599 } ], "hgvs": [ "NG_012061.1:g.14600A>T", "LRG_491:g.14600A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002146" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "A", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000427738.8:c.550A>T" ], "proteinEffect": { "hgvs": "ENSP00000392025.3:p.Lys184Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS755195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427738.8:c.550A>T" }, "RefSeq": { "hgvs": "NM_001378743.1:c.550A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000392025.3:p.Lys184Ter" }, "RefSeq": { "hgvs": "NP_001365672.1:p.Lys184Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 941, "referenceAllele": "A", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000311559.13:c.550A>T" ], "proteinEffect": { "hgvs": "ENSP00000308928.9:p.Lys184Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS256547" }, { "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "A", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000398568.6:c.550A>T" ], "proteinEffect": { "hgvs": "ENSP00000381574.2:p.Lys184Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS278330" }, { "coordinates": [ { "allele": "T", "end": 755, "referenceAllele": "A", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000427738.7:c.550A>T" ], "proteinEffect": { "hgvs": "ENSP00000392025.3:p.Lys184Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS289847" }, { "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "A", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000563629.1:n.286A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS377549" }, { "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "A", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000564326.5:c.550A>T" ], "proteinEffect": { "hgvs": "ENSP00000454515.1:p.Lys184Ter", "hgvsWellDefined": "ENSP00000454515.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS378017" }, { "coordinates": [ { "allele": "T", "end": 800, "referenceAllele": "A", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000566206.5:c.550A>T" ], "proteinEffect": { "hgvs": "ENSP00000462134.1:p.Lys184Ter", "hgvsWellDefined": "ENSP00000462134.1:p.Lys184_Ala910delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspAlaAlaLeuSerAspProAlaProThrAlaPheTrpCysGlyProProValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379275" }, { "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "A", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000566679.6:c.550A>T" ], "proteinEffect": { "hgvs": "ENSP00000456912.2:p.Lys184Ter", "hgvsWellDefined": "ENSP00000456912.2:p.Lys184Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS379612" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "A", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000568704.2:c.550A>T" ], "proteinEffect": { "hgvs": "ENSP00000456488.2:p.Lys184Ter", "hgvsWellDefined": "ENSP00000456488.2:p.Lys184_Lys771delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380976" }, { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "A", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000569418.5:c.550A>T" ], "proteinEffect": { "hgvs": "ENSP00000457576.1:p.Lys184Ter", "hgvsWellDefined": "ENSP00000457576.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381461" }, { "coordinates": [ { "allele": "T", "end": 945, "referenceAllele": "A", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000569891.5:n.945A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS381771" }, { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "A", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042355.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001035814.1:p.Lys184Ter", "hgvsWellDefined": "NP_001035814.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009647" }, { "coordinates": [ { "allele": "T", "end": 852, "referenceAllele": "A", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042412.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001035877.1:p.Lys184Ter", "hgvsWellDefined": "NP_001035877.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009676" }, { "@id": "http://reg.genome.network/allele/PA3083054942", "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "A", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_015247.2:c.550A>T", "LRG_491t1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_056062.1:p.Lys184Ter", "hgvsWellDefined": "NP_056062.1:p.Lys184_Lys956delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProAlaLeuSerGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033862" }, { "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "A", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_005255812.2:c.550A>T" ], "proteinEffect": { "hgvs": "XP_005255869.1:p.Lys184Ter", "hgvsWellDefined": "XP_005255869.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061063" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "A", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_006721149.1:c.550A>T" ], "proteinEffect": { "hgvs": "XP_006721212.1:p.Lys184Ter", "hgvsWellDefined": "XP_006721212.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073966" }, { "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "A", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522906.1:c.550A>T" ], "proteinEffect": { "hgvs": "XP_011521208.1:p.Lys184Ter", "hgvsWellDefined": "XP_011521208.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090048" }, { "coordinates": [ { "allele": "T", "end": 679, "referenceAllele": "A", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522907.1:c.550A>T" ], "proteinEffect": { "hgvs": "XP_011521209.1:p.Lys184Ter", "hgvsWellDefined": "XP_011521209.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090049" }, { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "A", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522908.1:c.550A>T" ], "proteinEffect": { "hgvs": "XP_011521210.1:p.Lys184Ter", "hgvsWellDefined": "XP_011521210.1:p.Lys184_Lys943delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090050" }, { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "A", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522909.1:c.550A>T" ], "proteinEffect": { "hgvs": "XP_011521211.1:p.Lys184Ter", "hgvsWellDefined": "XP_011521211.1:p.Lys184_His899delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyPheGlyAlaIleLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090051" }, { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "A", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522910.1:c.550A>T" ], "proteinEffect": { "hgvs": "XP_011521212.1:p.Lys184Ter", "hgvsWellDefined": "XP_011521212.1:p.Lys184_His899delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyPheGlyAlaIleLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090052" }, { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "A", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522911.1:c.550A>T" ], "proteinEffect": { "hgvs": "XP_011521213.1:p.Lys184Ter", "hgvsWellDefined": "XP_011521213.1:p.Lys184_Thr651delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIlePheLeuLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090053" }, { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "A", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XR_933218.1:n.843A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128933" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "A", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522907.2:c.550A>T" ], "proteinEffect": { "hgvs": "XP_011521209.1:p.Lys184Ter", "hgvsWellDefined": "XP_011521209.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546800" }, { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "A", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522911.2:c.550A>T" ], "proteinEffect": { "hgvs": "XP_011521213.1:p.Lys184Ter", "hgvsWellDefined": "XP_011521213.1:p.Lys184_Thr651delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIlePheLeuLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546801" }, { "coordinates": [ { "allele": "T", "end": 1123, "referenceAllele": "A", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022977.1:c.550A>T" ], "proteinEffect": { "hgvs": "XP_016878466.1:p.Lys184Ter", "hgvsWellDefined": "XP_016878466.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573812" }, { "coordinates": [ { "allele": "T", "end": 919, "referenceAllele": "A", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022978.1:c.550A>T" ], "proteinEffect": { "hgvs": "XP_016878467.1:p.Lys184Ter", "hgvsWellDefined": "XP_016878467.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573813" }, { "coordinates": [ { "allele": "T", "end": 879, "referenceAllele": "A", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022979.1:c.550A>T" ], "proteinEffect": { "hgvs": "XP_016878468.1:p.Lys184Ter", "hgvsWellDefined": "XP_016878468.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573814" }, { "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "A", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022980.1:c.550A>T" ], "proteinEffect": { "hgvs": "XP_016878469.1:p.Lys184Ter", "hgvsWellDefined": "XP_016878469.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573815" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "A", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022981.2:c.550A>T" ], "proteinEffect": { "hgvs": "XP_016878470.1:p.Lys184Ter", "hgvsWellDefined": "XP_016878470.1:p.Lys184_Lys943delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573816" }, { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "A", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XR_001751849.1:n.843A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598648" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "A", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042355.2:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001035814.1:p.Lys184Ter", "hgvsWellDefined": "NP_001035814.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676001" }, { "coordinates": [ { "allele": "T", "end": 884, "referenceAllele": "A", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042412.2:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001035877.1:p.Lys184Ter", "hgvsWellDefined": "NP_001035877.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676009" }, { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "A", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042412.3:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001035877.1:p.Lys184Ter", "hgvsWellDefined": "NP_001035877.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711685" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "A", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378743.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001365672.1:p.Lys184Ter", "hgvsWellDefined": "NP_001365672.1:p.Lys184_Lys956delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProAlaLeuSerGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721819", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427738.8:c.550A>T" }, "RefSeq": { "hgvs": "NM_001378743.1:c.550A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000392025.3:p.Lys184Ter" }, "RefSeq": { "hgvs": "NP_001365672.1:p.Lys184Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "A", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378744.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001365673.1:p.Lys184Ter", "hgvsWellDefined": "NP_001365673.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721820" }, { "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "A", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378745.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001365674.1:p.Lys184Ter", "hgvsWellDefined": "NP_001365674.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721821" }, { "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "A", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378746.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001365675.1:p.Lys184Ter", "hgvsWellDefined": "NP_001365675.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721822" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "A", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378747.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001365676.1:p.Lys184Ter", "hgvsWellDefined": "NP_001365676.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721823" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "A", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378748.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001365677.1:p.Lys184Ter", "hgvsWellDefined": "NP_001365677.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721824" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "A", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378749.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001365678.1:p.Lys184Ter", "hgvsWellDefined": "NP_001365678.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721825" }, { "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "A", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378750.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001365679.1:p.Lys184Ter", "hgvsWellDefined": "NP_001365679.1:p.Lys184_Lys953delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721826" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "A", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378751.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001365680.1:p.Lys184Ter", "hgvsWellDefined": "NP_001365680.1:p.Lys184_Lys943delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721827" }, { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "A", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378752.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001365681.1:p.Lys184Ter", "hgvsWellDefined": "NP_001365681.1:p.Lys184_Lys943delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721828" }, { "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "A", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378753.1:c.550A>T" ], "proteinEffect": { "hgvs": "NP_001365682.1:p.Lys184Ter", "hgvsWellDefined": "NP_001365682.1:p.Lys184_Lys943delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721829" }, { "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "A", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378754.1:c.-117A>T" ], "proteinEffect": { "hgvs": "NP_001365683.1:n.-117A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721830" }, { "coordinates": [ { "allele": "T", "end": 997, "referenceAllele": "A", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378755.1:c.-117A>T" ], "proteinEffect": { "hgvs": "NP_001365684.1:n.-117A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721831" }, { "@id": "http://reg.genome.network/allele/PA3083054942", "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "A", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_015247.3:c.550A>T" ], "proteinEffect": { "hgvs": "NP_056062.1:p.Lys184Ter", "hgvsWellDefined": "NP_056062.1:p.Lys184_Lys956delinsGlnLeuPheGlnCysAspGluAspCysGlyValPheValAlaLeuAspLysLeuGluLeuIleGluAspAspAspThrAlaLeuGluSerAspTyrAlaGlyProGlyAspThrMetGlnValGluLeuProProLeuGluIleAsnSerArgValSerLeuLysValGlyGluThrIleGluSerGlyThrValIlePheCysAspValLeuProGlyLysGluSerLeuGlyTyrPheValGlyValAspMetAspAsnProIleGlyAsnTrpAspGlyArgPheAspGlyValGlnLeuCysSerPheAlaCysValGluSerThrIleLeuLeuHisIleAsnAspIleIleProAlaLeuSerGluSerValThrGlnGluArgArgProProLysLeuAlaPheMetSerArgGlyValGlyAspLysGlySerSerSerHisAsnLysProLysAlaThrGlySerThrSerAspProGlyAsnArgAsnArgSerGluLeuPheTyrThrLeuAsnGlySerSerValAspSerGlnProGlnSerLysSerLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728051" }, { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "A", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NR_166071.1:n.814A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731770" } ], "type": "nucleotide" }