{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10590070", "communityStandardTitle": [ "NM_001378743.1(CYLD):c.1327C>T (p.Gln443Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=214343", "active": true, "id": "COSM214343" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=262112[alleleid]", "alleleId": 262112, "preferredName": "NM_001378743.1(CYLD):c.1327C>T (p.Gln443Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/267233", "RCV": [ "RCV000257934" ], "variationId": 267233 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.50813764C>T?assembly=hg19", "id": "chr16:g.50813764C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.50779853C>T?assembly=hg38", "id": "chr16:g.50779853C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/764952788", "rs": 764952788 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 50779853, "referenceAllele": "C", "start": 50779852 } ], "hgvs": [ "NC_000016.10:g.50779853C>T", "CM000678.2:g.50779853C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 50813764, "referenceAllele": "C", "start": 50813763 } ], "hgvs": [ "NC_000016.9:g.50813764C>T", "CM000678.1:g.50813764C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 49371265, "referenceAllele": "C", "start": 49371264 } ], "hgvs": [ "NC_000016.8:g.49371265C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 42804, "referenceAllele": "C", "start": 42803 } ], "hgvs": [ "NG_012061.1:g.42804C>T", "LRG_491:g.42804C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002146" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1569, "referenceAllele": "C", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000427738.8:c.1327C>T" ], "proteinEffect": { "hgvs": "ENSP00000392025.3:p.Gln443Ter", "hgvsWellDefined": "ENSP00000392025.3:p.Gln443_Lys956delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427738.8:c.1327C>T" }, "RefSeq": { "hgvs": "NM_001378743.1:c.1327C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000392025.3:p.Gln443Ter" }, "RefSeq": { "hgvs": "NP_001365672.1:p.Gln443Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1718, "referenceAllele": "C", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000311559.13:c.1327C>T" ], "proteinEffect": { "hgvs": "ENSP00000308928.9:p.Gln443Ter", "hgvsWellDefined": "ENSP00000308928.9:p.Gln443_Lys956delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256547" }, { "coordinates": [ { "allele": "T", "end": 1618, "referenceAllele": "C", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000398568.6:c.1318C>T" ], "proteinEffect": { "hgvs": "ENSP00000381574.2:p.Gln440Ter", "hgvsWellDefined": "ENSP00000381574.2:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278330" }, { "coordinates": [ { "allele": "T", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000427738.7:c.1327C>T" ], "proteinEffect": { "hgvs": "ENSP00000392025.3:p.Gln443Ter", "hgvsWellDefined": "ENSP00000392025.3:p.Gln443_Lys956delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS289847" }, { "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "C", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000563629.1:n.1054C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS377549" }, { "coordinates": [ { "allele": "T", "end": 1512, "referenceAllele": "C", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000564326.5:c.1318C>T" ], "proteinEffect": { "hgvs": "ENSP00000454515.1:p.Gln440Ter", "hgvsWellDefined": "ENSP00000454515.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS378017" }, { "coordinates": [ { "allele": "T", "end": 1568, "referenceAllele": "C", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000566206.5:c.1318C>T" ], "proteinEffect": { "hgvs": "ENSP00000462134.1:p.Gln440Ter", "hgvsWellDefined": "ENSP00000462134.1:p.Gln440_Ala910delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspAlaAlaLeuSerAspProAlaProThrAlaPheTrpCysGlyProProValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379275" }, { "coordinates": [ { "allele": "T", "end": 1279, "endIntronDirection": "+", "endIntronOffset": 1912, "referenceAllele": "C", "start": 1279, "startIntronDirection": "+", "startIntronOffset": 1911 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000568704.2:c.1129+1912C>T" ], "proteinEffect": { "hgvs": "ENSP00000456488.2:n.1129+1912C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS380976" }, { "coordinates": [ { "allele": "T", "end": 1596, "referenceAllele": "C", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000569418.5:c.1318C>T" ], "proteinEffect": { "hgvs": "ENSP00000457576.1:p.Gln440Ter", "hgvsWellDefined": "ENSP00000457576.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381461" }, { "coordinates": [ { "allele": "T", "end": 1713, "referenceAllele": "C", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000569891.5:n.1713C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS381771" }, { "@id": "http://reg.genome.network/allele/PA2825396758", "coordinates": [ { "allele": "T", "end": 1596, "referenceAllele": "C", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042355.1:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001035814.1:p.Gln440Ter", "hgvsWellDefined": "NP_001035814.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009647" }, { "@id": "http://reg.genome.network/allele/PA2825400681", "coordinates": [ { "allele": "T", "end": 1620, "referenceAllele": "C", "start": 1619 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042412.1:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001035877.1:p.Gln440Ter", "hgvsWellDefined": "NP_001035877.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009676" }, { "@id": "http://reg.genome.network/allele/PA645414757", "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_015247.2:c.1327C>T", "LRG_491t1:c.1327C>T" ], "proteinEffect": { "hgvs": "NP_056062.1:p.Gln443Ter", "hgvsWellDefined": "NP_056062.1:p.Gln443_Lys956delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033862" }, { "coordinates": [ { "allele": "T", "end": 1693, "referenceAllele": "C", "start": 1692 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_005255812.2:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_005255869.1:p.Gln440Ter", "hgvsWellDefined": "XP_005255869.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061063" }, { "coordinates": [ { "allele": "T", "end": 1757, "referenceAllele": "C", "start": 1756 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_006721149.1:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_006721212.1:p.Gln440Ter", "hgvsWellDefined": "XP_006721212.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073966" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522906.1:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_011521208.1:p.Gln440Ter", "hgvsWellDefined": "XP_011521208.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090048" }, { "coordinates": [ { "allele": "T", "end": 1447, "referenceAllele": "C", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522907.1:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_011521209.1:p.Gln440Ter", "hgvsWellDefined": "XP_011521209.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090049" }, { "coordinates": [ { "allele": "T", "end": 1581, "referenceAllele": "C", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522908.1:c.1288C>T" ], "proteinEffect": { "hgvs": "XP_011521210.1:p.Gln430Ter", "hgvsWellDefined": "XP_011521210.1:p.Gln430_Lys943delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090050" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522909.1:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_011521211.1:p.Gln440Ter", "hgvsWellDefined": "XP_011521211.1:p.Gln440_His899delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyPheGlyAlaIleLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090051" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522910.1:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_011521212.1:p.Gln440Ter", "hgvsWellDefined": "XP_011521212.1:p.Gln440_His899delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyPheGlyAlaIleLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090052" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522911.1:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_011521213.1:p.Gln440Ter", "hgvsWellDefined": "XP_011521213.1:p.Gln440_Thr651delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIlePheLeuLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090053" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XR_933218.1:n.1611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128933" }, { "coordinates": [ { "allele": "T", "end": 1519, "referenceAllele": "C", "start": 1518 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522907.2:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_011521209.1:p.Gln440Ter", "hgvsWellDefined": "XP_011521209.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546800" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522911.2:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_011521213.1:p.Gln440Ter", "hgvsWellDefined": "XP_011521213.1:p.Gln440_Thr651delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIlePheLeuLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546801" }, { "coordinates": [ { "allele": "T", "end": 1891, "referenceAllele": "C", "start": 1890 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022977.1:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_016878466.1:p.Gln440Ter", "hgvsWellDefined": "XP_016878466.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573812" }, { "coordinates": [ { "allele": "T", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022978.1:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_016878467.1:p.Gln440Ter", "hgvsWellDefined": "XP_016878467.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573813" }, { "coordinates": [ { "allele": "T", "end": 1647, "referenceAllele": "C", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022979.1:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_016878468.1:p.Gln440Ter", "hgvsWellDefined": "XP_016878468.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573814" }, { "coordinates": [ { "allele": "T", "end": 1680, "referenceAllele": "C", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022980.1:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_016878469.1:p.Gln440Ter", "hgvsWellDefined": "XP_016878469.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573815" }, { "coordinates": [ { "allele": "T", "end": 1546, "referenceAllele": "C", "start": 1545 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022981.2:c.1288C>T" ], "proteinEffect": { "hgvs": "XP_016878470.1:p.Gln430Ter", "hgvsWellDefined": "XP_016878470.1:p.Gln430_Lys943delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573816" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XR_001751849.1:n.1611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598648" }, { "@id": "http://reg.genome.network/allele/PA2825396758", "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042355.2:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001035814.1:p.Gln440Ter", "hgvsWellDefined": "NP_001035814.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676001" }, { "@id": "http://reg.genome.network/allele/PA2825400681", "coordinates": [ { "allele": "T", "end": 1652, "referenceAllele": "C", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042412.2:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001035877.1:p.Gln440Ter", "hgvsWellDefined": "NP_001035877.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676009" }, { "@id": "http://reg.genome.network/allele/PA2825400681", "coordinates": [ { "allele": "T", "end": 1582, "referenceAllele": "C", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042412.3:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001035877.1:p.Gln440Ter", "hgvsWellDefined": "NP_001035877.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711685" }, { "@id": "http://reg.genome.network/allele/PA2828796262", "coordinates": [ { "allele": "T", "end": 1569, "referenceAllele": "C", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378743.1:c.1327C>T" ], "proteinEffect": { "hgvs": "NP_001365672.1:p.Gln443Ter", "hgvsWellDefined": "NP_001365672.1:p.Gln443_Lys956delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721819", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427738.8:c.1327C>T" }, "RefSeq": { "hgvs": "NM_001378743.1:c.1327C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000392025.3:p.Gln443Ter" }, "RefSeq": { "hgvs": "NP_001365672.1:p.Gln443Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828796425", "coordinates": [ { "allele": "T", "end": 1587, "referenceAllele": "C", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378744.1:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001365673.1:p.Gln440Ter", "hgvsWellDefined": "NP_001365673.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721820" }, { "@id": "http://reg.genome.network/allele/PA2828796629", "coordinates": [ { "allele": "T", "end": 1697, "referenceAllele": "C", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378745.1:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001365674.1:p.Gln440Ter", "hgvsWellDefined": "NP_001365674.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721821" }, { "@id": "http://reg.genome.network/allele/PA2828796797", "coordinates": [ { "allele": "T", "end": 1719, "referenceAllele": "C", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378746.1:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001365675.1:p.Gln440Ter", "hgvsWellDefined": "NP_001365675.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721822" }, { "@id": "http://reg.genome.network/allele/PA2828796931", "coordinates": [ { "allele": "T", "end": 1509, "referenceAllele": "C", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378747.1:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001365676.1:p.Gln440Ter", "hgvsWellDefined": "NP_001365676.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721823" }, { "@id": "http://reg.genome.network/allele/PA2828797065", "coordinates": [ { "allele": "T", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378748.1:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001365677.1:p.Gln440Ter", "hgvsWellDefined": "NP_001365677.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721824" }, { "@id": "http://reg.genome.network/allele/PA2828797199", "coordinates": [ { "allele": "T", "end": 1487, "referenceAllele": "C", "start": 1486 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378749.1:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001365678.1:p.Gln440Ter", "hgvsWellDefined": "NP_001365678.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721825" }, { "@id": "http://reg.genome.network/allele/PA2828797333", "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378750.1:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001365679.1:p.Gln440Ter", "hgvsWellDefined": "NP_001365679.1:p.Gln440_Lys953delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721826" }, { "@id": "http://reg.genome.network/allele/PA2828797463", "coordinates": [ { "allele": "T", "end": 1530, "referenceAllele": "C", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378751.1:c.1288C>T" ], "proteinEffect": { "hgvs": "NP_001365680.1:p.Gln430Ter", "hgvsWellDefined": "NP_001365680.1:p.Gln430_Lys943delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721827" }, { "@id": "http://reg.genome.network/allele/PA2828797593", "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378752.1:c.1288C>T" ], "proteinEffect": { "hgvs": "NP_001365681.1:p.Gln430Ter", "hgvsWellDefined": "NP_001365681.1:p.Gln430_Lys943delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721828" }, { "@id": "http://reg.genome.network/allele/PA2828797723", "coordinates": [ { "allele": "T", "end": 1557, "referenceAllele": "C", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378753.1:c.1288C>T" ], "proteinEffect": { "hgvs": "NP_001365682.1:p.Gln430Ter", "hgvsWellDefined": "NP_001365682.1:p.Gln430_Lys943delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721829" }, { "@id": "http://reg.genome.network/allele/PA2828797823", "coordinates": [ { "allele": "T", "end": 1556, "referenceAllele": "C", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378754.1:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001365683.1:p.Gln218Ter", "hgvsWellDefined": "NP_001365683.1:p.Gln218_Lys731delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721830" }, { "@id": "http://reg.genome.network/allele/PA2828797914", "coordinates": [ { "allele": "T", "end": 1765, "referenceAllele": "C", "start": 1764 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378755.1:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001365684.1:p.Gln218Ter", "hgvsWellDefined": "NP_001365684.1:p.Gln218_Lys731delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721831" }, { "@id": "http://reg.genome.network/allele/PA645414757", "coordinates": [ { "allele": "T", "end": 1706, "referenceAllele": "C", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_015247.3:c.1327C>T" ], "proteinEffect": { "hgvs": "NP_056062.1:p.Gln443Ter", "hgvsWellDefined": "NP_056062.1:p.Gln443_Lys956delinsSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728051" }, { "coordinates": [ { "allele": "T", "end": 1582, "referenceAllele": "C", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NR_166071.1:n.1582C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731770" } ], "type": "nucleotide" }