{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10590069", "communityStandardTitle": [ "NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=43402", "active": true, "id": "COSM43402" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6454818", "active": true, "id": "COSM6454818" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=262111[alleleid]", "alleleId": 262111, "preferredName": "NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/267232", "RCV": [ "RCV000257976", "RCV000760471", "RCV001814137", "RCV003469207" ], "variationId": 267232 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.50811826C>A?assembly=hg19", "id": "chr16:g.50811826C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.50777915C>A?assembly=hg38", "id": "chr16:g.50777915C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886040872", "rs": 886040872 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-50811826-C-A?dataset=gnomad_r2_1", "id": "16-50811826-C-A", "variant": "16:50811826 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-50777915-C-A?dataset=gnomad_r3", "id": "16-50777915-C-A", "variant": "16:50777915 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-50777915-C-A?dataset=gnomad_r4", "id": "16-50777915-C-A", "variant": "16:50777915 C / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 50777915, "referenceAllele": "C", "start": 50777914 } ], "hgvs": [ "NC_000016.10:g.50777915C>A", "CM000678.2:g.50777915C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 50811826, "referenceAllele": "C", "start": 50811825 } ], "hgvs": [ "NC_000016.9:g.50811826C>A", "CM000678.1:g.50811826C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 49369327, "referenceAllele": "C", "start": 49369326 } ], "hgvs": [ "NC_000016.8:g.49369327C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 40866, "referenceAllele": "C", "start": 40865 } ], "hgvs": [ "NG_012061.1:g.40866C>A", "LRG_491:g.40866C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002146" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1354, "referenceAllele": "C", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000427738.8:c.1112C>A" ], "proteinEffect": { "hgvs": "ENSP00000392025.3:p.Ser371Ter", "hgvsWellDefined": "ENSP00000392025.3:p.Ser371_Lys956delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427738.8:c.1112C>A" }, "RefSeq": { "hgvs": "NM_001378743.1:c.1112C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000392025.3:p.Ser371Ter" }, "RefSeq": { "hgvs": "NP_001365672.1:p.Ser371Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1503, "referenceAllele": "C", "start": 1502 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000311559.13:c.1112C>A" ], "proteinEffect": { "hgvs": "ENSP00000308928.9:p.Ser371Ter", "hgvsWellDefined": "ENSP00000308928.9:p.Ser371_Lys956delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256547" }, { "coordinates": [ { "allele": "A", "end": 1403, "referenceAllele": "C", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000398568.6:c.1103C>A" ], "proteinEffect": { "hgvs": "ENSP00000381574.2:p.Ser368Ter", "hgvsWellDefined": "ENSP00000381574.2:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278330" }, { "coordinates": [ { "allele": "A", "end": 1317, "referenceAllele": "C", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000427738.7:c.1112C>A" ], "proteinEffect": { "hgvs": "ENSP00000392025.3:p.Ser371Ter", "hgvsWellDefined": "ENSP00000392025.3:p.Ser371_Lys956delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS289847" }, { "coordinates": [ { "allele": "A", "end": 839, "referenceAllele": "C", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000563629.1:n.839C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS377549" }, { "coordinates": [ { "allele": "A", "end": 168, "referenceAllele": "C", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000563976.1:n.168C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS377780" }, { "coordinates": [ { "allele": "A", "end": 1297, "referenceAllele": "C", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000564326.5:c.1103C>A" ], "proteinEffect": { "hgvs": "ENSP00000454515.1:p.Ser368Ter", "hgvsWellDefined": "ENSP00000454515.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS378017" }, { "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000566206.5:c.1103C>A" ], "proteinEffect": { "hgvs": "ENSP00000462134.1:p.Ser368Ter", "hgvsWellDefined": "ENSP00000462134.1:p.Ser368_Ala910delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspAlaAlaLeuSerAspProAlaProThrAlaPheTrpCysGlyProProValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379275" }, { "coordinates": [ { "allele": "A", "end": 1253, "referenceAllele": "C", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000568704.2:c.1103C>A" ], "proteinEffect": { "hgvs": "ENSP00000456488.2:p.Ser368Ter", "hgvsWellDefined": "ENSP00000456488.2:p.Ser368_Lys771delinsLysAsnThrTrpTyrIleAspGluAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380976" }, { "coordinates": [ { "allele": "A", "end": 1381, "referenceAllele": "C", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000569418.5:c.1103C>A" ], "proteinEffect": { "hgvs": "ENSP00000457576.1:p.Ser368Ter", "hgvsWellDefined": "ENSP00000457576.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381461" }, { "coordinates": [ { "allele": "A", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "ENST00000569891.5:n.1498C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS381771" }, { "@id": "http://reg.genome.network/allele/PA2825396739", "coordinates": [ { "allele": "A", "end": 1381, "referenceAllele": "C", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042355.1:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001035814.1:p.Ser368Ter", "hgvsWellDefined": "NP_001035814.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009647" }, { "@id": "http://reg.genome.network/allele/PA2825400664", "coordinates": [ { "allele": "A", "end": 1405, "referenceAllele": "C", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042412.1:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001035877.1:p.Ser368Ter", "hgvsWellDefined": "NP_001035877.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009676" }, { "@id": "http://reg.genome.network/allele/PA645509890", "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_015247.2:c.1112C>A", "LRG_491t1:c.1112C>A" ], "proteinEffect": { "hgvs": "NP_056062.1:p.Ser371Ter", "hgvsWellDefined": "NP_056062.1:p.Ser371_Lys956delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033862" }, { "coordinates": [ { "allele": "A", "end": 1478, "referenceAllele": "C", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_005255812.2:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_005255869.1:p.Ser368Ter", "hgvsWellDefined": "XP_005255869.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061063" }, { "coordinates": [ { "allele": "A", "end": 1542, "referenceAllele": "C", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_006721149.1:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_006721212.1:p.Ser368Ter", "hgvsWellDefined": "XP_006721212.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073966" }, { "coordinates": [ { "allele": "A", "end": 1339, "referenceAllele": "C", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522906.1:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_011521208.1:p.Ser368Ter", "hgvsWellDefined": "XP_011521208.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090048" }, { "coordinates": [ { "allele": "A", "end": 1232, "referenceAllele": "C", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522907.1:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_011521209.1:p.Ser368Ter", "hgvsWellDefined": "XP_011521209.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090049" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522908.1:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_011521210.1:p.Ser368Ter", "hgvsWellDefined": "XP_011521210.1:p.Ser368_Lys943delinsLysAsnThrTrpTyrIleAspGluGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090050" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522909.1:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_011521211.1:p.Ser368Ter", "hgvsWellDefined": "XP_011521211.1:p.Ser368_His899delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyPheGlyAlaIleLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090051" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522910.1:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_011521212.1:p.Ser368Ter", "hgvsWellDefined": "XP_011521212.1:p.Ser368_His899delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyPheGlyAlaIleLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090052" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522911.1:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_011521213.1:p.Ser368Ter", "hgvsWellDefined": "XP_011521213.1:p.Ser368_Thr651delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIlePheLeuLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090053" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XR_933218.1:n.1396C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128933" }, { "coordinates": [ { "allele": "A", "end": 1304, "referenceAllele": "C", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522907.2:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_011521209.1:p.Ser368Ter", "hgvsWellDefined": "XP_011521209.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546800" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_011522911.2:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_011521213.1:p.Ser368Ter", "hgvsWellDefined": "XP_011521213.1:p.Ser368_Thr651delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIlePheLeuLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546801" }, { "coordinates": [ { "allele": "A", "end": 1676, "referenceAllele": "C", "start": 1675 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022977.1:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_016878466.1:p.Ser368Ter", "hgvsWellDefined": "XP_016878466.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573812" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "C", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022978.1:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_016878467.1:p.Ser368Ter", "hgvsWellDefined": "XP_016878467.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573813" }, { "coordinates": [ { "allele": "A", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022979.1:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_016878468.1:p.Ser368Ter", "hgvsWellDefined": "XP_016878468.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573814" }, { "coordinates": [ { "allele": "A", "end": 1465, "referenceAllele": "C", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022980.1:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_016878469.1:p.Ser368Ter", "hgvsWellDefined": "XP_016878469.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573815" }, { "coordinates": [ { "allele": "A", "end": 1361, "referenceAllele": "C", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XM_017022981.2:c.1103C>A" ], "proteinEffect": { "hgvs": "XP_016878470.1:p.Ser368Ter", "hgvsWellDefined": "XP_016878470.1:p.Ser368_Lys943delinsLysAsnThrTrpTyrIleAspGluGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573816" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "XR_001751849.1:n.1396C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598648" }, { "@id": "http://reg.genome.network/allele/PA2825396739", "coordinates": [ { "allele": "A", "end": 1345, "referenceAllele": "C", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042355.2:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001035814.1:p.Ser368Ter", "hgvsWellDefined": "NP_001035814.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676001" }, { "@id": "http://reg.genome.network/allele/PA2825400664", "coordinates": [ { "allele": "A", "end": 1437, "referenceAllele": "C", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042412.2:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001035877.1:p.Ser368Ter", "hgvsWellDefined": "NP_001035877.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676009" }, { "@id": "http://reg.genome.network/allele/PA2825400664", "coordinates": [ { "allele": "A", "end": 1367, "referenceAllele": "C", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001042412.3:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001035877.1:p.Ser368Ter", "hgvsWellDefined": "NP_001035877.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711685" }, { "@id": "http://reg.genome.network/allele/PA2828796240", "coordinates": [ { "allele": "A", "end": 1354, "referenceAllele": "C", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378743.1:c.1112C>A" ], "proteinEffect": { "hgvs": "NP_001365672.1:p.Ser371Ter", "hgvsWellDefined": "NP_001365672.1:p.Ser371_Lys956delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721819", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427738.8:c.1112C>A" }, "RefSeq": { "hgvs": "NM_001378743.1:c.1112C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000392025.3:p.Ser371Ter" }, "RefSeq": { "hgvs": "NP_001365672.1:p.Ser371Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828796408", "coordinates": [ { "allele": "A", "end": 1372, "referenceAllele": "C", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378744.1:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001365673.1:p.Ser368Ter", "hgvsWellDefined": "NP_001365673.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721820" }, { "@id": "http://reg.genome.network/allele/PA2828796607", "coordinates": [ { "allele": "A", "end": 1482, "referenceAllele": "C", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378745.1:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001365674.1:p.Ser368Ter", "hgvsWellDefined": "NP_001365674.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721821" }, { "@id": "http://reg.genome.network/allele/PA2828796779", "coordinates": [ { "allele": "A", "end": 1504, "referenceAllele": "C", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378746.1:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001365675.1:p.Ser368Ter", "hgvsWellDefined": "NP_001365675.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721822" }, { "@id": "http://reg.genome.network/allele/PA2828796915", "coordinates": [ { "allele": "A", "end": 1294, "referenceAllele": "C", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378747.1:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001365676.1:p.Ser368Ter", "hgvsWellDefined": "NP_001365676.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721823" }, { "@id": "http://reg.genome.network/allele/PA2828797048", "coordinates": [ { "allele": "A", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378748.1:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001365677.1:p.Ser368Ter", "hgvsWellDefined": "NP_001365677.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721824" }, { "@id": "http://reg.genome.network/allele/PA2828797182", "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378749.1:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001365678.1:p.Ser368Ter", "hgvsWellDefined": "NP_001365678.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721825" }, { "@id": "http://reg.genome.network/allele/PA2828797317", "coordinates": [ { "allele": "A", "end": 1691, "referenceAllele": "C", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378750.1:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001365679.1:p.Ser368Ter", "hgvsWellDefined": "NP_001365679.1:p.Ser368_Lys953delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721826" }, { "@id": "http://reg.genome.network/allele/PA2828797451", "coordinates": [ { "allele": "A", "end": 1345, "referenceAllele": "C", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378751.1:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001365680.1:p.Ser368Ter", "hgvsWellDefined": "NP_001365680.1:p.Ser368_Lys943delinsLysAsnThrTrpTyrIleAspGluGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721827" }, { "@id": "http://reg.genome.network/allele/PA2828797580", "coordinates": [ { "allele": "A", "end": 1367, "referenceAllele": "C", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378752.1:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001365681.1:p.Ser368Ter", "hgvsWellDefined": "NP_001365681.1:p.Ser368_Lys943delinsLysAsnThrTrpTyrIleAspGluGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721828" }, { "@id": "http://reg.genome.network/allele/PA2828797711", "coordinates": [ { "allele": "A", "end": 1372, "referenceAllele": "C", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378753.1:c.1103C>A" ], "proteinEffect": { "hgvs": "NP_001365682.1:p.Ser368Ter", "hgvsWellDefined": "NP_001365682.1:p.Ser368_Lys943delinsLysAsnThrTrpTyrIleAspGluGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721829" }, { "@id": "http://reg.genome.network/allele/PA2828797806", "coordinates": [ { "allele": "A", "end": 1341, "referenceAllele": "C", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378754.1:c.437C>A" ], "proteinEffect": { "hgvs": "NP_001365683.1:p.Ser146Ter", "hgvsWellDefined": "NP_001365683.1:p.Ser146_Lys731delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721830" }, { "@id": "http://reg.genome.network/allele/PA2828797898", "coordinates": [ { "allele": "A", "end": 1550, "referenceAllele": "C", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378755.1:c.437C>A" ], "proteinEffect": { "hgvs": "NP_001365684.1:p.Ser146Ter", "hgvsWellDefined": "NP_001365684.1:p.Ser146_Lys731delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721831" }, { "@id": "http://reg.genome.network/allele/PA645509890", "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "C", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_015247.3:c.1112C>A" ], "proteinEffect": { "hgvs": "NP_056062.1:p.Ser371Ter", "hgvsWellDefined": "NP_056062.1:p.Ser371_Lys956delinsLysAsnThrTrpTyrIleAspGluValAlaGluAspProAlaLysSerLeuThrGluIleSerThrAspPheAspArgSerSerProProLeuGlnProProProValAsnSerLeuThrThrGluAsnArgPheHisSerLeuProPheSerLeuThrLysMetProAsnThrAsnGlySerIleGlyHisSerProLeuSerLeuSerAlaGlnSerValMetGluGluLeuAsnThrAlaProValGlnGluSerProProLeuAlaMetProProGlyAsnSerHisGlyLeuGluValGlySerLeuAlaGluValLysGluAsnProProPheTyrGlyValIleArgTrpIleGlyGlnProProGlyLeuAsnGluValLeuAlaGlyLeuGluLeuGluAspGluCysAlaGlyCysThrAspGlyThrPheArgGlyThrArgTyrPheThrCysAlaLeuLysLysAlaLeuPheValLysLeuLysSerCysArgProAspSerArgPheAlaSerLeuGlnProValSerAsnGlnIleGluArgCysAsnSerLeuAlaPheGlyGlyTyrLeuSerGluValValGluGluAsnThrProProLysMetGluLysGluGlyLeuGluIleMetIleGlyLysLysLysGlyIleGlnGlyHisTyrAsnSerCysTyrLeuAspSerThrLeuPheCysLeuPheAlaPheSerSerValLeuAspThrValLeuLeuArgProLysGluLysAsnAspValGluTyrTyrSerGluThrGlnGluLeuLeuArgThrGluIleValAsnProLeuArgIleTyrGlyTyrValCysAlaThrLysIleMetLysLeuArgLysIleLeuGluLysValGluAlaAlaSerGlyPheThrSerGluGluLysAspProGluGluPheLeuAsnIleLeuPheHisHisIleLeuArgValGluProLeuLeuLysIleArgSerAlaGlyGlnLysValGlnAspCysTyrPheTyrGlnIlePheMetGluLysAsnGluLysValGlyValProThrIleGlnGlnLeuLeuGluTrpSerPheIleAsnSerAsnLeuLysPheAlaGluAlaProSerCysLeuIleIleGlnMetProArgPheGlyLysAspPheLysLeuPheLysLysIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728051" }, { "coordinates": [ { "allele": "A", "end": 1367, "referenceAllele": "C", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NR_166071.1:n.1367C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731770" } ], "type": "nucleotide" }