{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10604142", "communityStandardTitle": [ "NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266538[alleleid]", "alleleId": 266538, "preferredName": "NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282301", "RCV": [ "RCV000385356", "RCV002503985" ], "variationId": 282301 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43015891G>A?assembly=hg19", "id": "chr6:g.43015891G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43048153G>A?assembly=hg38", "id": "chr6:g.43048153G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886042376", "rs": 886042376 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43015891-G-A?dataset=gnomad_r2_1", "id": "6-43015891-G-A", "variant": "6:43015891 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43048153-G-A?dataset=gnomad_r3", "id": "6-43048153-G-A", "variant": "6:43048153 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43048153-G-A?dataset=gnomad_r4", "id": "6-43048153-G-A", "variant": "6:43048153 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 43048153, "referenceAllele": "G", "start": 43048152 } ], "hgvs": [ "NC_000006.12:g.43048153G>A", "CM000668.2:g.43048153G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 43015891, "referenceAllele": "G", "start": 43015890 } ], "hgvs": [ "NC_000006.11:g.43015891G>A", "CM000668.1:g.43015891G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 43123869, "referenceAllele": "G", "start": 43123868 } ], "hgvs": [ "NC_000006.10:g.43123869G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 10793, "referenceAllele": "C", "start": 10792 } ], "hgvs": [ "NG_016205.1:g.10793C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003011" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 8, "referenceAllele": "C", "start": 7 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000478630.2:n.8C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825292" }, { "coordinates": [ { "allele": "T", "end": 2447, "referenceAllele": "C", "start": 2446 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674112.2:c.2164C>T" ], "proteinEffect": { "hgvs": "ENSP00000501166.2:p.Arg722Ter", "hgvsWellDefined": "ENSP00000501166.2:p.Arg722_Ser1548delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAspSerArgTrpGlnGlnGlyThrGlnValGluMetGlyHisCysAlaAlaHisProThrSerAspValProAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826891" }, { "coordinates": [ { "allele": "T", "end": 2447, "referenceAllele": "C", "start": 2446 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000685042.1:c.2164C>T" ], "proteinEffect": { "hgvs": "ENSP00000509871.1:p.Arg722Ter", "hgvsWellDefined": "ENSP00000509871.1:p.Arg722_Glu1120delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829855" }, { "coordinates": [ { "allele": "T", "end": 2447, "referenceAllele": "C", "start": 2446 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000686442.1:n.2447C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830576" }, { "coordinates": [ { "allele": "T", "end": 2498, "referenceAllele": "C", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000687225.1:c.2260C>T" ], "proteinEffect": { "hgvs": "ENSP00000509364.1:p.Arg754Ter", "hgvsWellDefined": "ENSP00000509364.1:p.Arg754_Leu767delinsGluValIleHisSerHisGlySerGlnIleLysThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830985" }, { "coordinates": [ { "allele": "T", "end": 2447, "referenceAllele": "C", "start": 2446 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000688302.1:n.2447C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831549" }, { "coordinates": [ { "allele": "T", "end": 2463, "referenceAllele": "C", "start": 2462 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000689256.1:n.2463C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832076" }, { "coordinates": [ { "allele": "T", "end": 2364, "referenceAllele": "C", "start": 2363 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000690231.1:c.2164C>T" ], "proteinEffect": { "hgvs": "ENSP00000508461.1:p.Arg722Ter", "hgvsWellDefined": "ENSP00000508461.1:p.Arg722_Arg1698delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832598" }, { "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "C", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000265348.9:c.2164C>T" ], "proteinEffect": { "hgvs": "ENSP00000265348.4:p.Arg722Ter", "hgvsWellDefined": "ENSP00000265348.4:p.Arg722_Arg1698delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742823", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265348.9:c.2164C>T" }, "RefSeq": { "hgvs": "NM_014780.5:c.2164C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265348.4:p.Arg722Ter" }, "RefSeq": { "hgvs": "NP_055595.2:p.Arg722Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000673725.1:c.113C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773819" }, { "coordinates": [ { "allele": "T", "end": 2498, "referenceAllele": "C", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000673753.1:n.2498C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773844" }, { "coordinates": [ { "allele": "T", "end": 2590, "referenceAllele": "C", "start": 2589 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674100.1:c.2260C>T" ], "proteinEffect": { "hgvs": "ENSP00000501292.1:p.Arg754Ter", "hgvsWellDefined": "ENSP00000501292.1:p.Arg754_Arg1730delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774119" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674112.1:c.656C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774131" }, { "coordinates": [ { "allele": "T", "end": 2448, "referenceAllele": "C", "start": 2447 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674134.1:c.2260C>T" ], "proteinEffect": { "hgvs": "ENSP00000501068.1:p.Arg754Ter", "hgvsWellDefined": "ENSP00000501068.1:p.Arg754_Arg1730delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774152" }, { "coordinates": [ { "allele": "T", "end": 2250, "referenceAllele": "C", "start": 2249 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000265348.7:c.2164C>T" ], "proteinEffect": { "hgvs": "ENSP00000265348.3:p.Arg722Ter", "hgvsWellDefined": "ENSP00000265348.3:p.Arg722_Arg1698delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251724" }, { "coordinates": [ { "allele": "A", "end": 799, "endIntronDirection": "+", "endIntronOffset": 4645, "referenceAllele": "G", "start": 799, "startIntronDirection": "+", "startIntronOffset": 4644 } ], "gene": "http://reg.genome.network/gene/GN021624", "geneNCBI_id": 89953, "geneSymbol": "KLC4", "hgvs": [ "ENST00000467906.5:c.-553+4645G>A" ], "proteinEffect": { "hgvs": "ENSP00000418759.1:n.-553+4645G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS310946" }, { "coordinates": [ { "allele": "T", "end": 8, "referenceAllele": "C", "start": 7 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000478630.1:n.8C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319196" }, { "coordinates": [ { "allele": "T", "end": 2503, "referenceAllele": "C", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000535468.1:c.2416C>T" ], "proteinEffect": { "hgvs": "ENSP00000438788.1:p.Arg806Ter", "hgvsWellDefined": "ENSP00000438788.1:p.Arg806_Arg1782delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359744" }, { "@id": "http://reg.genome.network/allele/PA915990390", "coordinates": [ { "allele": "T", "end": 2503, "referenceAllele": "C", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001168370.1:c.2416C>T" ], "proteinEffect": { "hgvs": "NP_001161842.1:p.Arg806Ter", "hgvsWellDefined": "NP_001161842.1:p.Arg806_Arg1782delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015097" }, { "@id": "http://reg.genome.network/allele/PA645434598", "coordinates": [ { "allele": "T", "end": 2496, "referenceAllele": "C", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_014780.4:c.2164C>T" ], "proteinEffect": { "hgvs": "NP_055595.2:p.Arg722Ter", "hgvsWellDefined": "NP_055595.2:p.Arg722_Arg1698delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033460" }, { "coordinates": [ { "allele": "T", "end": 2356, "referenceAllele": "C", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_005249503.1:c.2320C>T" ], "proteinEffect": { "hgvs": "XP_005249560.1:p.Arg774Ter", "hgvsWellDefined": "XP_005249560.1:p.Arg774_Arg1750delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058852" }, { "coordinates": [ { "allele": "T", "end": 2597, "referenceAllele": "C", "start": 2596 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_006715285.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_006715348.1:p.Arg754Ter", "hgvsWellDefined": "XP_006715348.1:p.Arg754_Arg1734delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071100" }, { "coordinates": [ { "allele": "T", "end": 2452, "referenceAllele": "C", "start": 2451 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515019.1:c.2416C>T" ], "proteinEffect": { "hgvs": "XP_011513321.1:p.Arg806Ter", "hgvsWellDefined": "XP_011513321.1:p.Arg806_Arg1786delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082239" }, { "coordinates": [ { "allele": "T", "end": 2356, "referenceAllele": "C", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515020.1:c.2320C>T" ], "proteinEffect": { "hgvs": "XP_011513322.1:p.Arg774Ter", "hgvsWellDefined": "XP_011513322.1:p.Arg774_Arg1754delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082240" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515021.1:c.-19C>T" ], "proteinEffect": { "hgvs": "XP_011513323.1:n.-19C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS082241" }, { "coordinates": [ { "allele": "T", "end": 2358, "referenceAllele": "C", "start": 2357 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_005249503.3:c.2320C>T" ], "proteinEffect": { "hgvs": "XP_005249560.1:p.Arg774Ter", "hgvsWellDefined": "XP_005249560.1:p.Arg774_Arg1750delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533273" }, { "coordinates": [ { "allele": "T", "end": 2592, "referenceAllele": "C", "start": 2591 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_006715285.2:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_006715348.1:p.Arg754Ter", "hgvsWellDefined": "XP_006715348.1:p.Arg754_Arg1734delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538903" }, { "coordinates": [ { "allele": "T", "end": 2454, "referenceAllele": "C", "start": 2453 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515019.2:c.2416C>T" ], "proteinEffect": { "hgvs": "XP_011513321.1:p.Arg806Ter", "hgvsWellDefined": "XP_011513321.1:p.Arg806_Arg1786delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543562" }, { "coordinates": [ { "allele": "T", "end": 2357, "referenceAllele": "C", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515020.2:c.2320C>T" ], "proteinEffect": { "hgvs": "XP_011513322.1:p.Arg774Ter", "hgvsWellDefined": "XP_011513322.1:p.Arg774_Arg1754delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543563" }, { "coordinates": [ { "allele": "T", "end": 2482, "referenceAllele": "C", "start": 2481 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011533.1:c.2443C>T" ], "proteinEffect": { "hgvs": "XP_016867022.1:p.Arg815Ter", "hgvsWellDefined": "XP_016867022.1:p.Arg815_Arg1795delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565365" }, { "coordinates": [ { "allele": "T", "end": 2481, "referenceAllele": "C", "start": 2480 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011534.1:c.2443C>T" ], "proteinEffect": { "hgvs": "XP_016867023.1:p.Arg815Ter", "hgvsWellDefined": "XP_016867023.1:p.Arg815_Arg1791delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565366" }, { "coordinates": [ { "allele": "T", "end": 2385, "referenceAllele": "C", "start": 2384 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011535.1:c.2347C>T" ], "proteinEffect": { "hgvs": "XP_016867024.1:p.Arg783Ter", "hgvsWellDefined": "XP_016867024.1:p.Arg783_Arg1763delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565367" }, { "coordinates": [ { "allele": "T", "end": 2619, "referenceAllele": "C", "start": 2618 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011536.2:c.2287C>T" ], "proteinEffect": { "hgvs": "XP_016867025.1:p.Arg763Ter", "hgvsWellDefined": "XP_016867025.1:p.Arg763_Arg1743delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565368" }, { "coordinates": [ { "allele": "T", "end": 2592, "referenceAllele": "C", "start": 2591 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011537.2:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_016867026.1:p.Arg754Ter", "hgvsWellDefined": "XP_016867026.1:p.Arg754_Arg1730delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565369" }, { "coordinates": [ { "allele": "T", "end": 2523, "referenceAllele": "C", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011538.2:c.2191C>T" ], "proteinEffect": { "hgvs": "XP_016867027.1:p.Arg731Ter", "hgvsWellDefined": "XP_016867027.1:p.Arg731_Arg1711delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565370" }, { "coordinates": [ { "allele": "T", "end": 2496, "referenceAllele": "C", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011539.2:c.2164C>T" ], "proteinEffect": { "hgvs": "XP_016867028.1:p.Arg722Ter", "hgvsWellDefined": "XP_016867028.1:p.Arg722_Arg1702delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565371" }, { "coordinates": [ { "allele": "T", "end": 2487, "referenceAllele": "C", "start": 2486 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011540.1:c.2443C>T" ], "proteinEffect": { "hgvs": "XP_016867029.1:p.Arg815Ter", "hgvsWellDefined": "XP_016867029.1:p.Arg815_Lys897delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnAlaProValTrpLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565372" }, { "@id": "http://reg.genome.network/allele/PA2826055594", "coordinates": [ { "allele": "T", "end": 2409, "referenceAllele": "C", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001168370.2:c.2260C>T" ], "proteinEffect": { "hgvs": "NP_001161842.2:p.Arg754Ter", "hgvsWellDefined": "NP_001161842.2:p.Arg754_Arg1730delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678585" }, { "@id": "http://reg.genome.network/allele/PA2573073468", "coordinates": [ { "allele": "T", "end": 2498, "referenceAllele": "C", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374872.1:c.2260C>T" ], "proteinEffect": { "hgvs": "NP_001361801.1:p.Arg754Ter", "hgvsWellDefined": "NP_001361801.1:p.Arg754_Arg1730delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693421" }, { "@id": "http://reg.genome.network/allele/PA2828563133", "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "C", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374873.1:c.2164C>T" ], "proteinEffect": { "hgvs": "NP_001361802.1:p.Arg722Ter", "hgvsWellDefined": "NP_001361802.1:p.Arg722_Arg1702delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693422" }, { "@id": "http://reg.genome.network/allele/PA2828563689", "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "C", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374874.1:c.2164C>T" ], "proteinEffect": { "hgvs": "NP_001361803.1:p.Arg722Ter", "hgvsWellDefined": "NP_001361803.1:p.Arg722_Arg1697delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProSerArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693423" }, { "@id": "http://reg.genome.network/allele/PA645434598", "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "C", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_014780.5:c.2164C>T" ], "proteinEffect": { "hgvs": "NP_055595.2:p.Arg722Ter", "hgvsWellDefined": "NP_055595.2:p.Arg722_Arg1698delinsGluValLeuGlnGluLeuIlePhePheLeuHisArgLeuThrSerValSerArgAspTyrAlaValValLeuAsnGlnLeuGlyAlaArgAspAlaIleSerLysAlaLeuGluLysHisLeuGlyLysLeuGluLeuAlaGlnGluLeuArgAspMetValPheLysCysGluLysHisAlaHisLeuTyrArgLysLeuIleThrAsnIleLeuGlyGlyCysIleGlnMetValLeuGlyGlnIleGluAspHisArgArgThrHisGlnProIleAsnIleProPhePheAspValPheLeuArgTyrLeuCysGlnGlySerSerValGluValLysGluAspLysCysTrpGluLysValGluValSerSerAsnProHisArgAlaSerLysLeuThrAspHisAsnProLysThrTyrTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265348.9:c.2164C>T" }, "RefSeq": { "hgvs": "NM_014780.5:c.2164C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265348.4:p.Arg722Ter" }, "RefSeq": { "hgvs": "NP_055595.2:p.Arg722Ter" } } } } ], "type": "nucleotide" }