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"ENSP00000457230.1:p.Trp44_Gly414delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpHisLysAlaLysValGluAlaMetThrLeuAspLeuAlaLeuLeuArgSerValGlnHisPheAlaGluAlaPheLysAlaLysAsnValProLeuHisValLeuValCysAsnAlaAlaThrPheAlaLeuProTrpSerLeuThrLysAspGlyLeuGluThrThrPheGlnValAsnHisLeuGlyHisPheTyrLeuValGlnLeuLeuGlnAspValLeuCysArgSerAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetGlnGlnGlyAlaAlaThrThrValTyrCysAlaAlaValProGluLeuGluGlyLeuGlyGlyMetTyrPheAsnAsnCysCysArgCysMetProSerProGluAlaGlnSerGluGluThrAlaArgThrLeuTrpAlaLeuSerGluArgLeuIleGlnGluArgLeuGlySerGlnSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379680" }, { "coordinates": [ { "allele": "A", "end": 260, "endIntronDirection": "-", "endIntronOffset": 1331, "referenceAllele": "G", "start": 260, "startIntronDirection": "-", "startIntronOffset": 1332 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "ENST00000569332.5:c.108-1332G>A" ], "proteinEffect": { "hgvs": "ENSP00000454788.1:n.108-1332G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS381404" }, { "coordinates": [ { "allele": "A", "end": 456, "endIntronDirection": "-", "endIntronOffset": 1331, "referenceAllele": "G", "start": 456, "startIntronDirection": "-", "startIntronOffset": 1332 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "ENST00000627394.2:c.108-1332G>A" ], "proteinEffect": { "hgvs": "ENSP00000485925.1:n.108-1332G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS406885" }, { "coordinates": [ { "allele": "A", "end": 473, "endIntronDirection": "-", "endIntronOffset": 1331, "referenceAllele": "G", "start": 473, "startIntronDirection": "-", "startIntronOffset": 1332 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NM_001291997.1:c.-167-1332G>A" ], "proteinEffect": { "hgvs": "NP_001278926.1:n.-167-1332G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024427" }, { "@id": "http://reg.genome.network/allele/PA645496982", "coordinates": [ { "allele": "A", "end": 497, "referenceAllele": "G", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NM_016373.3:c.131G>A" ], "proteinEffect": { "hgvs": "NP_057457.1:p.Trp44Ter", "hgvsWellDefined": "NP_057457.1:p.Trp44_Gly414delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpHisLysAlaLysValGluAlaMetThrLeuAspLeuAlaLeuLeuArgSerValGlnHisPheAlaGluAlaPheLysAlaLysAsnValProLeuHisValLeuValCysAsnAlaAlaThrPheAlaLeuProTrpSerLeuThrLysAspGlyLeuGluThrThrPheGlnValAsnHisLeuGlyHisPheTyrLeuValGlnLeuLeuGlnAspValLeuCysArgSerAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetGlnGlnGlyAlaAlaThrThrValTyrCysAlaAlaValProGluLeuGluGlyLeuGlyGlyMetTyrPheAsnAsnCysCysArgCysMetProSerProGluAlaGlnSerGluGluThrAlaArgThrLeuTrpAlaLeuSerGluArgLeuIleGlnGluArgLeuGlySerGlnSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034655" }, { "@id": "http://reg.genome.network/allele/PA916058941", "coordinates": [ { "allele": "A", "end": 497, "referenceAllele": "G", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NM_130791.3:c.131G>A" ], "proteinEffect": { "hgvs": "NP_570607.1:p.Trp44Ter", "hgvsWellDefined": "NP_570607.1:p.Trp44_His189delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpLysThrLysTyrHisProProProGluLysCysArgIleLysIlePheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040407" }, { "coordinates": [ { "allele": "A", "end": 611, "referenceAllele": "G", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NR_120436.1:n.611G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS055316" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_006721195.2:c.131G>A" ], "proteinEffect": { "hgvs": "XP_006721258.1:p.Trp44Ter", "hgvsWellDefined": "XP_006721258.1:p.Trp44_Pro361delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpHisLysAlaLysValGluAlaMetThrLeuAspLeuAlaLeuLeuArgSerValGlnHisPheAlaGluAlaPheLysAlaLysAsnValProLeuHisValLeuValCysAsnAlaAlaThrPheAlaLeuProTrpSerLeuThrLysAspGlyLeuGluThrThrPheGlnValAsnHisLeuGlyHisPheTyrLeuValGlnLeuLeuGlnAspValLeuCysArgSerAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetLeuProValHisArgPheLeuGlnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073983" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_011523100.1:c.131G>A" ], "proteinEffect": { "hgvs": "XP_011521402.1:p.Trp44Ter", "hgvsWellDefined": "XP_011521402.1:p.Trp44_Gly446delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpHisLysAlaLysValGluAlaMetThrLeuAspLeuAlaLeuLeuArgSerValGlnHisPheAlaGluAlaPheLysAlaLysAsnValProLeuHisValLeuValCysAsnAlaAlaThrPheAlaLeuProTrpSerLeuThrLysAspGlyLeuGluThrThrPheGlnValAsnHisLeuGlyHisPheTyrLeuValGlnLeuLeuGlnAspValLeuCysArgSerAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetAsnThrValProValGlyHisGlyIleArgGlyArgGluLysGluGluArgThrArgHisLysLeuGluGlyIleHisLeuGlnCysCysSerGluGlnGlnGlyAlaAlaThrThrValTyrCysAlaAlaValProGluLeuGluGlyLeuGlyGlyMetTyrPheAsnAsnCysCysArgCysMetProSerProGluAlaGlnSerGluGluThrAlaArgThrLeuTrpAlaLeuSerGluArgLeuIleGlnGluArgLeuGlySerGlnSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090240" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_011523101.1:c.131G>A" ], "proteinEffect": { "hgvs": "XP_011521403.1:p.Trp44Ter", "hgvsWellDefined": "XP_011521403.1:p.Trp44_Met414delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpHisLysAlaLysValGluAlaMetThrLeuAspLeuAlaLeuLeuArgSerValGlnHisPheAlaGluAlaPheLysAlaLysAsnValProLeuHisValLeuValCysAsnAlaAlaThrPheAlaLeuProTrpSerLeuThrLysAspGlyLeuGluThrThrPheGlnValAsnHisLeuGlyHisPheTyrLeuValGlnLeuLeuGlnAspValLeuCysArgSerAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetLeuPheAspSerAlaTrpLeuLeuAlaAspCysTrpLeuLeuAlaGlyGlyThrProGlnLeuLeuGluAlaSerThrValProGluTyrLeuGlyPheSerHisLysAlaAlaSerPheIleLysProAlaThrArgValSerGlyAlaSerTrpSerThrArgTrpCysLeuThrCysProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090241" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_011523102.1:c.131G>A" ], "proteinEffect": { "hgvs": "XP_011521404.1:p.Trp44Ter", "hgvsWellDefined": "XP_011521404.1:p.Trp44_Leu373delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpHisLysAlaLysValGluAlaMetThrLeuAspLeuAlaLeuLeuArgSerValGlnHisPheAlaGluAlaPheLysAlaLysAsnValProLeuHisValLeuValCysAsnAlaAlaThrPheAlaLeuProTrpSerLeuThrLysAspGlyLeuGluThrThrPheGlnValAsnHisLeuGlyHisPheTyrLeuValGlnLeuLeuGlnAspValLeuCysArgSerAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetLeuGlnTyrProAlaGlnAspLeuThrProAlaSerValLysTyrIleArgGlyThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090242" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_011523103.1:c.131G>A" ], "proteinEffect": { "hgvs": "XP_011521405.1:p.Trp44Ter", "hgvsWellDefined": "XP_011521405.1:p.Trp44_Val367delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpHisLysAlaLysValGluAlaMetThrLeuAspLeuAlaLeuLeuArgSerValGlnHisPheAlaGluAlaPheLysAlaLysAsnValProLeuHisValLeuValCysAsnAlaAlaThrPheAlaLeuProTrpSerLeuThrLysAspGlyLeuGluThrThrPheGlnValAsnHisLeuGlyHisPheTyrLeuValGlnLeuLeuGlnAspValLeuCysArgSerAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetGluLysProAlaAlaMetLeuGlyGlyTyrSerSerIleProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090243" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_011523104.1:c.131G>A" ], "proteinEffect": { "hgvs": "XP_011521406.1:p.Trp44Ter", "hgvsWellDefined": "XP_011521406.1:p.Trp44_Asp353delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpHisLysAlaLysValGluAlaMetThrLeuAspLeuAlaLeuLeuArgSerValGlnHisPheAlaGluAlaPheLysAlaLysAsnValProLeuHisValLeuValCysAsnAlaAlaThrPheAlaLeuProTrpSerLeuThrLysAspGlyLeuGluThrThrPheGlnValAsnHisLeuGlyHisPheTyrLeuValGlnLeuLeuGlnAspValLeuCysArgSerAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090244" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_011523105.1:c.131G>A" ], "proteinEffect": { "hgvs": "XP_011521407.1:p.Trp44Ter", "hgvsWellDefined": "XP_011521407.1:p.Trp44_Ser248delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpSerLeuLeuGluAspProSerPheThrThrLeuSerPheLeuGluValTrpLysTyrSerThrTrpValArgLeuSerTrpLeuPheValProSerValArgLysLeuGlnLeuAsnCysPheLysSerPheValValIleMetArgLysValLysSerAsnArgLysLeuHisValHisLeuMetCysThrTyrPheTyrPheCysThrLeuCysCysLeuLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090245" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_011523101.3:c.131G>A" ], "proteinEffect": { "hgvs": "XP_011521403.1:p.Trp44Ter", "hgvsWellDefined": "XP_011521403.1:p.Trp44_Met414delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpHisLysAlaLysValGluAlaMetThrLeuAspLeuAlaLeuLeuArgSerValGlnHisPheAlaGluAlaPheLysAlaLysAsnValProLeuHisValLeuValCysAsnAlaAlaThrPheAlaLeuProTrpSerLeuThrLysAspGlyLeuGluThrThrPheGlnValAsnHisLeuGlyHisPheTyrLeuValGlnLeuLeuGlnAspValLeuCysArgSerAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetLeuPheAspSerAlaTrpLeuLeuAlaAspCysTrpLeuLeuAlaGlyGlyThrProGlnLeuLeuGluAlaSerThrValProGluTyrLeuGlyPheSerHisLysAlaAlaSerPheIleLysProAlaThrArgValSerGlyAlaSerTrpSerThrArgTrpCysLeuThrCysProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546891" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_011523103.3:c.131G>A" ], "proteinEffect": { "hgvs": "XP_011521405.1:p.Trp44Ter", "hgvsWellDefined": "XP_011521405.1:p.Trp44_Val367delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpHisLysAlaLysValGluAlaMetThrLeuAspLeuAlaLeuLeuArgSerValGlnHisPheAlaGluAlaPheLysAlaLysAsnValProLeuHisValLeuValCysAsnAlaAlaThrPheAlaLeuProTrpSerLeuThrLysAspGlyLeuGluThrThrPheGlnValAsnHisLeuGlyHisPheTyrLeuValGlnLeuLeuGlnAspValLeuCysArgSerAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetGluLysProAlaAlaMetLeuGlyGlyTyrSerSerIleProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546892" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_011523104.3:c.131G>A" ], "proteinEffect": { "hgvs": "XP_011521406.1:p.Trp44Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS546893" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_011523105.3:c.131G>A" ], "proteinEffect": { "hgvs": "XP_011521407.1:p.Trp44Ter", "hgvsWellDefined": "XP_011521407.1:p.Trp44_Ser248delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpSerLeuLeuGluAspProSerPheThrThrLeuSerPheLeuGluValTrpLysTyrSerThrTrpValArgLeuSerTrpLeuPheValProSerValArgLysLeuGlnLeuAsnCysPheLysSerPheValValIleMetArgLysValLysSerAsnArgLysLeuHisValHisLeuMetCysThrTyrPheTyrPheCysThrLeuCysCysLeuLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546894" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_017023278.2:c.131G>A" ], "proteinEffect": { "hgvs": "XP_016878767.1:p.Trp44Ter", "hgvsWellDefined": 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"NM_016373.4:c.131G>A" ], "proteinEffect": { "hgvs": "NP_057457.1:p.Trp44Ter", "hgvsWellDefined": "NP_057457.1:p.Trp44_Gly414delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpHisLysAlaLysValGluAlaMetThrLeuAspLeuAlaLeuLeuArgSerValGlnHisPheAlaGluAlaPheLysAlaLysAsnValProLeuHisValLeuValCysAsnAlaAlaThrPheAlaLeuProTrpSerLeuThrLysAspGlyLeuGluThrThrPheGlnValAsnHisLeuGlyHisPheTyrLeuValGlnLeuLeuGlnAspValLeuCysArgSerAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetGlnGlnGlyAlaAlaThrThrValTyrCysAlaAlaValProGluLeuGluGlyLeuGlyGlyMetTyrPheAsnAsnCysCysArgCysMetProSerProGluAlaGlnSerGluGluThrAlaArgThrLeuTrpAlaLeuSerGluArgLeuIleGlnGluArgLeuGlySerGlnSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669107", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000566780.6:c.131G>A" }, "RefSeq": { "hgvs": "NM_016373.4:c.131G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000457230.1:p.Trp44Ter" }, "RefSeq": { "hgvs": "NP_057457.1:p.Trp44Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 232, "endIntronDirection": "-", "endIntronOffset": 1331, "referenceAllele": "G", "start": 232, "startIntronDirection": "-", "startIntronOffset": 1332 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NM_001291997.2:c.-167-1332G>A" ], "proteinEffect": { "hgvs": "NP_001278926.1:n.-167-1332G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682940" }, { "@id": "http://reg.genome.network/allele/PA916058941", "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NM_130791.4:c.131G>A" ], "proteinEffect": { "hgvs": "NP_570607.1:p.Trp44Ter", "hgvsWellDefined": "NP_570607.1:p.Trp44_His189delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpLysThrLysTyrHisProProProGluLysCysArgIleLysIlePheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699605" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NR_120436.2:n.370G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703197" }, { "@id": "http://reg.genome.network/allele/PA916058941", "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NM_130791.5:c.131G>A" ], "proteinEffect": { "hgvs": "NP_570607.1:p.Trp44Ter", "hgvsWellDefined": "NP_570607.1:p.Trp44_His189delinsGluHisProLysThrGlyLysArgLysArgValAlaGlyAspLeuProTyrGlyTrpGluGlnGluThrAspGluAsnGlyGlnValPhePheValAspHisIleAsnLysArgThrThrTyrLeuAspProArgLeuAlaPheThrValAspAspAsnProThrLysProThrThrArgGlnArgTyrAspGlySerThrThrAlaMetGluIleLeuGlnGlyArgAspPheThrGlyLysValValValValThrGlyAlaAsnSerGlyIleGlyPheGluThrAlaLysSerPheAlaLeuHisGlyAlaHisValIleLeuAlaCysArgAsnMetAlaArgAlaSerGluAlaValSerArgIleLeuGluGluTrpLysThrLysTyrHisProProProGluLysCysArgIleLysIlePheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729083" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NR_120436.3:n.370G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730738" } ], "type": "nucleotide" }