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"http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378748.1:c.2290A>T" ], "proteinEffect": { "hgvs": "NP_001365677.1:p.Lys764Ter", "hgvsWellDefined": "NP_001365677.1:p.Lys765_Lys953delinsIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721824" }, { "@id": "http://reg.genome.network/allele/PA2828797231", "coordinates": [ { "allele": "T", "end": 2459, "referenceAllele": "A", "start": 2458 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378749.1:c.2290A>T" ], "proteinEffect": { "hgvs": "NP_001365678.1:p.Lys764Ter", "hgvsWellDefined": "NP_001365678.1:p.Lys765_Lys953delinsIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721825" }, { "@id": "http://reg.genome.network/allele/PA2828797365", 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"http://reg.genome.network/allele/PA2828797495", "coordinates": [ { "allele": "T", "end": 2502, "referenceAllele": "A", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378751.1:c.2260A>T" ], "proteinEffect": { "hgvs": "NP_001365680.1:p.Lys754Ter", "hgvsWellDefined": "NP_001365680.1:p.Lys755_Lys943delinsIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721827" }, { "@id": "http://reg.genome.network/allele/PA2828797625", "coordinates": [ { "allele": "T", "end": 2524, "referenceAllele": "A", "start": 2523 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378752.1:c.2260A>T" ], "proteinEffect": { "hgvs": "NP_001365681.1:p.Lys754Ter", "hgvsWellDefined": "NP_001365681.1:p.Lys755_Lys943delinsIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721828" }, { "@id": "http://reg.genome.network/allele/PA2828797755", "coordinates": [ { "allele": "T", "end": 2529, "referenceAllele": "A", "start": 2528 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378753.1:c.2260A>T" ], "proteinEffect": { "hgvs": 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1540, "geneSymbol": "CYLD", "hgvs": [ "NM_001378755.1:c.1624A>T" ], "proteinEffect": { "hgvs": "NP_001365684.1:p.Lys542Ter", "hgvsWellDefined": "NP_001365684.1:p.Lys543_Lys731delinsIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721831" }, { "@id": "http://reg.genome.network/allele/PA645414770", "coordinates": [ { "allele": "T", "end": 2678, "referenceAllele": "A", "start": 2677 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NM_015247.3:c.2299A>T" ], "proteinEffect": { "hgvs": "NP_056062.1:p.Lys767Ter", "hgvsWellDefined": "NP_056062.1:p.Lys768_Lys956delinsIlePheProSerLeuGluLeuAsnIleThrAspLeuLeuGluAspThrProArgGlnCysArgIleCysGlyGlyLeuAlaMetTyrGluCysArgGluCysTyrAspAspProAspIleSerAlaGlyLysIleLysGlnPheCysLysThrCysAsnThrGlnValHisLeuHisProLysArgLeuAsnHisLysTyrAsnProValSerLeuProLysAspLeuProAspTrpAspTrpArgHisGlyCysIleProCysGlnAsnMetGluLeuPheAlaValLeuCysIleGluThrSerHisTyrValAlaPheValLysTyrGlyLysAspAspSerAlaTrpLeuPhePheAspSerMetAlaAspArgAspGlyGlyGlnAsnGlyPheAsnIleProGlnValThrProCysProGluValGlyGluTyrLeuLysMetSerLeuGluAspLeuHisSerLeuAspSerArgArgIleGlnGlyCysAlaArgArgLeuLeuCysAspAlaTyrMetCysMetTyrGlnSerProThrMetSerLeuTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728051" }, { "coordinates": [ { "allele": "T", "end": 2388, "referenceAllele": "A", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN002584", "geneNCBI_id": 1540, "geneSymbol": "CYLD", "hgvs": [ "NR_166071.1:n.2388A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731770" } ], "type": "nucleotide" }