{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351700754", "communityStandardTitle": [ "NM_001080517.3(SETD5):c.2143C>T (p.Gln715Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=969771[alleleid]", "alleleId": 969771, "preferredName": "NM_001080517.3(SETD5):c.2143C>T (p.Gln715Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/981702", "RCV": [ "RCV001261244" ], "variationId": 981702 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.9490111C>T?assembly=hg19", "id": "chr3:g.9490111C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.9448427C>T?assembly=hg38", "id": "chr3:g.9448427C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/925484505", "rs": 925484505 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 9448427, 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"ENSP00000385852.2:p.Gln715_Ser1442delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753992", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402198.7:c.2143C>T" }, "RefSeq": { "hgvs": "NM_001080517.3:c.2143C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385852.2:p.Gln715Ter" }, "RefSeq": { "hgvs": "NP_001073986.1:p.Gln715Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2711, "referenceAllele": "C", "start": 2710 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000663774.1:c.*2289C>T" ], "proteinEffect": { "hgvs": "ENSP00000499452.1:n.*2289C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS772829" }, { "coordinates": [ { "allele": "T", "end": 40, "referenceAllele": "C", "start": 39 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000664993.1:n.40C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772882" }, { "coordinates": [ { "allele": "T", "end": 3164, "referenceAllele": "C", "start": 3163 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000665872.1:c.*2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000499600.1:n.*2212C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS772921" }, { "coordinates": [ { "allele": "T", "end": 3469, "referenceAllele": "C", "start": 3468 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000666307.1:c.*2517C>T" ], "proteinEffect": { "hgvs": "ENSP00000499402.1:n.*2517C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS772941" }, { "coordinates": [ { "allele": "T", "end": 3267, "referenceAllele": "C", "start": 3266 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000670063.1:c.*2248C>T" ], "proteinEffect": { "hgvs": "ENSP00000499725.1:n.*2248C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773086" }, { "coordinates": [ { "allele": "T", "end": 2213, "referenceAllele": "C", "start": 2212 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000302463.10:c.1849C>T" ], "proteinEffect": { "hgvs": "ENSP00000302028.6:p.Gln617Ter", "hgvsWellDefined": "ENSP00000302028.6:p.Gln617_Ser1344delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255181" }, { "coordinates": [ { "allele": "T", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000399686.6:c.1145C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS278765" }, { "coordinates": [ { "allele": "T", "end": 2578, "referenceAllele": "C", "start": 2577 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000402198.5:c.2143C>T" ], "proteinEffect": { "hgvs": "ENSP00000385852.1:p.Gln715Ter", "hgvsWellDefined": "ENSP00000385852.1:p.Gln715_Ser1442delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279436" }, { "coordinates": [ { "allele": "T", "end": 2333, "referenceAllele": "C", "start": 2332 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000406341.5:c.2143C>T" ], "proteinEffect": { "hgvs": "ENSP00000383939.1:p.Gln715Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS280606" }, { "coordinates": [ { "allele": "T", "end": 2214, "referenceAllele": "C", "start": 2213 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000407969.5:c.2200C>T" ], "proteinEffect": { "hgvs": "ENSP00000384114.1:p.Gln734Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS281065" }, { "coordinates": [ { "allele": "T", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000413704.5:c.1179C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS283195" }, { "coordinates": [ { "allele": "T", "end": 77, "referenceAllele": "C", "start": 76 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000421188.1:c.77C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS286677" }, { "coordinates": [ { "allele": "T", "end": 2816, "referenceAllele": "C", "start": 2815 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000443339.5:c.*2403C>T" ], "proteinEffect": { "hgvs": "ENSP00000393221.1:n.*2403C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS297295" }, { "coordinates": [ { "allele": "T", "end": 1484, "referenceAllele": "C", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000466242.5:n.1484C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS309660" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "C", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000488236.5:n.360C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS326590" }, { "coordinates": [ { "allele": "T", "end": 2307, "referenceAllele": "C", "start": 2306 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "ENST00000493918.5:n.2307C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS330967" }, { "@id": "http://reg.genome.network/allele/PA1139676768", "coordinates": [ { "allele": "T", "end": 2597, "referenceAllele": "C", "start": 2596 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "NM_001080517.2:c.2143C>T" ], "proteinEffect": { "hgvs": "NP_001073986.1:p.Gln715Ter", "hgvsWellDefined": "NP_001073986.1:p.Gln715_Ser1442delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010269" }, { "@id": "http://reg.genome.network/allele/PA2826820669", "coordinates": [ { "allele": "T", "end": 2861, "referenceAllele": "C", "start": 2860 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "NM_001292043.1:c.1849C>T" ], "proteinEffect": { "hgvs": "NP_001278972.1:p.Gln617Ter", "hgvsWellDefined": "NP_001278972.1:p.Gln617_Ser1344delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024459" }, { "coordinates": [ { "allele": "T", "end": 2635, "referenceAllele": "C", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_005265301.1:c.2200C>T" ], "proteinEffect": { "hgvs": "XP_005265358.1:p.Gln734Ter", "hgvsWellDefined": "XP_005265358.1:p.Gln734_Ser1461delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064569" }, { "coordinates": [ { "allele": "T", "end": 3016, "referenceAllele": "C", "start": 3015 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_005265303.1:c.2086C>T" ], "proteinEffect": { "hgvs": "XP_005265360.1:p.Gln696Ter", "hgvsWellDefined": "XP_005265360.1:p.Gln696_Ser1442delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064570" }, { "coordinates": [ { "allele": "T", "end": 3111, "referenceAllele": "C", "start": 3110 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533920.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_011532222.1:p.Gln754Ter", "hgvsWellDefined": "XP_011532222.1:p.Gln754_Ser1500delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100938" }, { "coordinates": [ { "allele": "T", "end": 2713, "referenceAllele": "C", "start": 2712 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533921.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_011532223.1:p.Gln754Ter", "hgvsWellDefined": "XP_011532223.1:p.Gln754_Ser1500delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100939" }, { "coordinates": [ { "allele": "T", "end": 2674, "referenceAllele": "C", "start": 2673 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533922.1:c.2239C>T" ], "proteinEffect": { "hgvs": "XP_011532224.1:p.Gln747Ter", "hgvsWellDefined": "XP_011532224.1:p.Gln747_Ser1493delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100940" }, { "coordinates": [ { "allele": "T", "end": 3228, "referenceAllele": "C", "start": 3227 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533923.1:c.2239C>T" ], "proteinEffect": { "hgvs": "XP_011532225.1:p.Gln747Ter", "hgvsWellDefined": "XP_011532225.1:p.Gln747_Ser1493delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100941" }, { "coordinates": [ { "allele": "T", "end": 2706, "referenceAllele": "C", "start": 2705 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533924.1:c.2239C>T" ], "proteinEffect": { "hgvs": "XP_011532226.1:p.Gln747Ter", "hgvsWellDefined": "XP_011532226.1:p.Gln747_Ser1493delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100942" }, { "coordinates": [ { "allele": "T", "end": 3072, "referenceAllele": "C", "start": 3071 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533925.1:c.2221C>T" ], "proteinEffect": { "hgvs": "XP_011532227.1:p.Gln741Ter", "hgvsWellDefined": "XP_011532227.1:p.Gln741_Ser1487delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100943" }, { "coordinates": [ { "allele": "T", "end": 3111, "referenceAllele": "C", "start": 3110 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533926.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_011532228.1:p.Gln754Ter", "hgvsWellDefined": "XP_011532228.1:p.Gln754_Ser1481delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100944" }, { "coordinates": [ { "allele": "T", "end": 3054, "referenceAllele": "C", "start": 3053 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533927.1:c.2203C>T" ], "proteinEffect": { "hgvs": "XP_011532229.1:p.Gln735Ter", "hgvsWellDefined": "XP_011532229.1:p.Gln735_Ser1481delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100945" }, { "coordinates": [ { "allele": "T", "end": 2617, "referenceAllele": "C", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533928.1:c.2182C>T" ], "proteinEffect": { "hgvs": "XP_011532230.1:p.Gln728Ter", "hgvsWellDefined": "XP_011532230.1:p.Gln728_Ser1474delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100946" }, { "coordinates": [ { "allele": "T", "end": 3072, "referenceAllele": "C", "start": 3071 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533929.1:c.2221C>T" ], "proteinEffect": { "hgvs": "XP_011532231.1:p.Gln741Ter", "hgvsWellDefined": "XP_011532231.1:p.Gln741_Ser1468delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100947" }, { "coordinates": [ { "allele": "T", "end": 3055, "referenceAllele": "C", "start": 3054 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533930.1:c.2125C>T" ], "proteinEffect": { "hgvs": "XP_011532232.1:p.Gln709Ter", "hgvsWellDefined": "XP_011532232.1:p.Gln709_Ser1455delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100948" }, { "coordinates": [ { "allele": "T", "end": 1987, "referenceAllele": "C", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533931.1:c.1849C>T" ], "proteinEffect": { "hgvs": "XP_011532233.1:p.Gln617Ter", "hgvsWellDefined": "XP_011532233.1:p.Gln617_Ser1363delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100949" }, { "coordinates": [ { "allele": "T", "end": 2822, "referenceAllele": "C", "start": 2821 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533932.1:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_011532234.1:p.Gln604Ter", "hgvsWellDefined": "XP_011532234.1:p.Gln604_Ser1350delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100950" }, { "coordinates": [ { "allele": "T", "end": 2191, "referenceAllele": "C", "start": 2190 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533933.1:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_011532235.1:p.Gln604Ter", "hgvsWellDefined": "XP_011532235.1:p.Gln604_Ser1350delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100951" }, { "coordinates": [ { "allele": "T", "end": 3111, "referenceAllele": "C", "start": 3110 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533934.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_011532236.1:p.Gln754Ter", "hgvsWellDefined": "XP_011532236.1:p.Gln754_Arg1305delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnValIleAsnTyrAlaArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100952" }, { "coordinates": [ { "allele": "T", "end": 3111, "referenceAllele": "C", "start": 3110 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533935.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_011532237.1:p.Gln754Ter", "hgvsWellDefined": "XP_011532237.1:p.Gln754_His975delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluHisPheArgIleCysSerAspGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100953" }, { "coordinates": [ { "allele": "T", "end": 3111, "referenceAllele": "C", "start": 3110 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533936.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_011532238.1:p.Gln754Ter", "hgvsWellDefined": "XP_011532238.1:p.Gln754_Asp883delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaGluGluGluArgAspLeuLysSerGlyIleSerPheProArgThrThrLysLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100954" }, { "@id": "http://reg.genome.network/allele/PA2827495137", "coordinates": [ { "allele": "T", "end": 2902, "referenceAllele": "C", "start": 2901 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "NM_001349451.1:c.1849C>T" ], "proteinEffect": { "hgvs": "NP_001336380.1:p.Gln617Ter", "hgvsWellDefined": "NP_001336380.1:p.Gln617_Ser1344delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518736" }, { "coordinates": [ { "allele": "T", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_011533921.2:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_011532223.1:p.Gln754Ter", "hgvsWellDefined": "XP_011532223.1:p.Gln754_Ser1500delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551429" }, { "coordinates": [ { "allele": "T", "end": 4773, "referenceAllele": "C", "start": 4772 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006767.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_016862256.1:p.Gln754Ter", "hgvsWellDefined": "XP_016862256.1:p.Gln754_Ser1500delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561706" }, { "coordinates": [ { "allele": "T", "end": 7559, "referenceAllele": "C", "start": 7558 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006768.2:c.2239C>T" ], "proteinEffect": { "hgvs": "XP_016862257.1:p.Gln747Ter", "hgvsWellDefined": "XP_016862257.1:p.Gln747_Ser1493delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561707" }, { "coordinates": [ { "allele": "T", "end": 6429, "referenceAllele": "C", "start": 6428 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006770.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_016862259.1:p.Gln754Ter", "hgvsWellDefined": "XP_016862259.1:p.Gln754_Ser1481delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561708" }, { "coordinates": [ { "allele": "T", "end": 2635, "referenceAllele": "C", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006771.1:c.2200C>T" ], "proteinEffect": { "hgvs": "XP_016862260.1:p.Gln734Ter", "hgvsWellDefined": "XP_016862260.1:p.Gln734_Ser1480delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561709" }, { "coordinates": [ { "allele": "T", "end": 6390, "referenceAllele": "C", "start": 6389 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006772.1:c.2221C>T" ], "proteinEffect": { "hgvs": "XP_016862261.1:p.Gln741Ter", "hgvsWellDefined": "XP_016862261.1:p.Gln741_Ser1468delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561710" }, { "coordinates": [ { "allele": "T", "end": 6333, "referenceAllele": "C", "start": 6332 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006773.1:c.2164C>T" ], "proteinEffect": { "hgvs": "XP_016862262.1:p.Gln722Ter", "hgvsWellDefined": "XP_016862262.1:p.Gln722_Ser1468delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561711" }, { "coordinates": [ { "allele": "T", "end": 2578, "referenceAllele": "C", "start": 2577 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006774.1:c.2143C>T" ], "proteinEffect": { "hgvs": "XP_016862263.1:p.Gln715Ter", "hgvsWellDefined": "XP_016862263.1:p.Gln715_Ser1461delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561712" }, { "coordinates": [ { "allele": "T", "end": 6333, "referenceAllele": "C", "start": 6332 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006775.1:c.2164C>T" ], "proteinEffect": { "hgvs": "XP_016862264.1:p.Gln722Ter", "hgvsWellDefined": "XP_016862264.1:p.Gln722_Ser1449delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561713" }, { "coordinates": [ { "allele": "T", "end": 2918, "referenceAllele": "C", "start": 2917 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006776.1:c.1849C>T" ], "proteinEffect": { "hgvs": "XP_016862265.1:p.Gln617Ter", "hgvsWellDefined": "XP_016862265.1:p.Gln617_Ser1363delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561714" }, { "coordinates": [ { "allele": "T", "end": 2861, "referenceAllele": "C", "start": 2860 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006777.1:c.1849C>T" ], "proteinEffect": { "hgvs": "XP_016862266.1:p.Gln617Ter", "hgvsWellDefined": "XP_016862266.1:p.Gln617_Ser1363delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561715" }, { "coordinates": [ { "allele": "T", "end": 2902, "referenceAllele": "C", "start": 2901 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006778.1:c.1849C>T" ], "proteinEffect": { "hgvs": "XP_016862267.1:p.Gln617Ter", "hgvsWellDefined": "XP_016862267.1:p.Gln617_Ser1363delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561716" }, { "coordinates": [ { "allele": "T", "end": 2879, "referenceAllele": "C", "start": 2878 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006779.1:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_016862268.1:p.Gln604Ter", "hgvsWellDefined": "XP_016862268.1:p.Gln604_Ser1350delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561717" }, { "coordinates": [ { "allele": "T", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006780.1:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_016862269.1:p.Gln604Ter", "hgvsWellDefined": "XP_016862269.1:p.Gln604_Ser1350delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561718" }, { "coordinates": [ { "allele": "T", "end": 6429, "referenceAllele": "C", "start": 6428 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006782.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_016862271.1:p.Gln754Ter", "hgvsWellDefined": "XP_016862271.1:p.Gln754_Arg1305delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnValIleAsnTyrAlaArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561719" }, { "coordinates": [ { "allele": "T", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006783.1:c.1582C>T" ], "proteinEffect": { "hgvs": "XP_016862272.1:p.Gln528Ter", "hgvsWellDefined": "XP_016862272.1:p.Gln528_Ser1274delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561720" }, { "coordinates": [ { "allele": "T", "end": 6429, "referenceAllele": "C", "start": 6428 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006784.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_016862273.1:p.Gln754Ter", "hgvsWellDefined": "XP_016862273.1:p.Gln754_His975delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluHisPheArgIleCysSerAspGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561721" }, { "coordinates": [ { "allele": "T", "end": 6429, "referenceAllele": "C", "start": 6428 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006785.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_016862274.1:p.Gln754Ter", "hgvsWellDefined": "XP_016862274.1:p.Gln754_Thr842delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysIleTrpIleGlnAlaAlaPheLeuSerValCysHisCysProProProLeuAlaSerArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561722" }, { "coordinates": [ { "allele": "T", "end": 6429, "referenceAllele": "C", "start": 6428 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_017006786.1:c.2260C>T" ], "proteinEffect": { "hgvs": "XP_016862275.1:p.Gln754Ter", "hgvsWellDefined": "XP_016862275.1:p.Gln754_Trp828delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysGlyArgArgAlaThrGluTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561723" }, { "coordinates": [ { "allele": "T", "end": 3072, "referenceAllele": "C", "start": 3071 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_024453620.1:c.2221C>T" ], "proteinEffect": { "hgvs": "XP_024309388.1:p.Gln741Ter", "hgvsWellDefined": "XP_024309388.1:p.Gln741_Ser1487delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586996" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XM_024453621.1:c.1897C>T" ], "proteinEffect": { "hgvs": "XP_024309389.1:p.Gln633Ter", "hgvsWellDefined": "XP_024309389.1:p.Gln633_Ser1379delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluAsnIleSerSerProGluSerSerProAlaHisArgProGluSerLeuSerProGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586997" }, { "coordinates": [ { "allele": "T", "end": 6429, "referenceAllele": "C", "start": 6428 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "XR_001740195.2:n.6429C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590420" }, { "@id": "http://reg.genome.network/allele/PA1139676768", "coordinates": [ { "allele": "T", "end": 2682, "referenceAllele": "C", "start": 2681 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "NM_001080517.3:c.2143C>T" ], "proteinEffect": { "hgvs": "NP_001073986.1:p.Gln715Ter", "hgvsWellDefined": "NP_001073986.1:p.Gln715_Ser1442delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676275", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402198.7:c.2143C>T" }, "RefSeq": { "hgvs": "NM_001080517.3:c.2143C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385852.2:p.Gln715Ter" }, "RefSeq": { "hgvs": "NP_001073986.1:p.Gln715Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826820669", "coordinates": [ { "allele": "T", "end": 2946, "referenceAllele": "C", "start": 2945 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "NM_001292043.2:c.1849C>T" ], "proteinEffect": { "hgvs": "NP_001278972.1:p.Gln617Ter", "hgvsWellDefined": "NP_001278972.1:p.Gln617_Ser1344delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682962" }, { "@id": "http://reg.genome.network/allele/PA2827495137", "coordinates": [ { "allele": "T", "end": 2987, "referenceAllele": "C", "start": 2986 } ], "gene": "http://reg.genome.network/gene/GN025566", "geneNCBI_id": 55209, "geneSymbol": "SETD5", "hgvs": [ "NM_001349451.2:c.1849C>T" ], "proteinEffect": { "hgvs": "NP_001336380.1:p.Gln617Ter", "hgvsWellDefined": "NP_001336380.1:p.Gln617_Ser1344delinsGluCysProValGluCysProLeuArgIleThrThrAspProThrValLeuAlaThrThrLeuAsnMetLeuProGlyLeuIleHisSerProLeuIleCysThrThrProLysHisTyrIleArgPheGlySerProPheIleProGluArgArgArgArgProLeuLeuProAspGlyThrPheSerSerCysLysLysArgTrpIleLysGlnAlaLeuGluGluGlyMetThrGlnThrSerSerValProGlnGluThrArgThrGlnHisLeuTyrGlnSerAsnGluAsnSerSerSerSerSerIleCysLysAspAsnAlaAspLeuLeuSerProLeuLysLysTrpLysSerArgTyrLeuMetGluGlnAsnValThrLysLeuLeuArgProLeuSerProValThrProProProProAsnSerGlySerLysSerProGlnLeuAlaThrProGlySerSerHisProGlyGluGluGluCysArgAsnGlyTyrSerLeuMetPheSerProValThrSerLeuThrThrAlaSerArgCysAsnThrProLeuGlnPheGluLeuCysHisArgLysAspLeuAspLeuAlaLysValGlyTyrLeuAspSerAsnThrAsnSerCysAlaAspArgProSerLeuLeuAsnSerGlyHisSerAspLeuAlaProHisProSerLeuGlyProThrSerGluThrGlyPheProSerArgSerGlyAspGlyHisGlnThrLeuValArgAsnSerAspGlnAlaPheArgThrGluPheAsnLeuMetTyrAlaTyrSerProLeuAsnAlaMetProArgAlaAspGlyLeuTyrArgGlySerProLeuValGlyAspArgLysProLeuHisLeuAspGlyGlyTyrCysSerProAlaGluGlyPheSerSerArgTyrGluHisGlyLeuMetLysAspLeuSerArgGlySerLeuSerProGlyGlyGluArgAlaCysGluGlyValProSerAlaProGlnAsnProProGlnArgLysLysValSerLeuLeuGluTyrArgLysArgLysGlnGluAlaLysGluAsnSerAlaGlyGlyGlyGlyAspSerAlaGlnSerLysSerLysSerAlaGlyAlaGlyGlnGlySerSerAsnSerValSerAspThrGlyAlaHisGlyValGlnGlySerSerAlaArgThrProSerSerProHisLysLysPheSerProSerHisSerSerMetSerHisLeuGluAlaValSerProSerAspSerArgGlyThrSerSerSerHisCysArgProGlnGluAsnIleSerSerArgTrpMetValProThrSerValGluArgLeuArgGluGlyGlySerIleProLysValLeuArgSerSerValArgValAlaGlnLysGlyGluProSerProThrTrpGluSerAsnIleThrGluLysAspSerAspProAlaAspGlyGluGlyProGluThrLeuSerSerAlaLeuSerLysGlyAlaThrValTyrSerProSerArgTyrSerTyrGlnLeuLeuGlnCysAspSerProArgThrGluSerGlnSerLeuLeuGlnGlnSerSerSerProPheArgGlyHisProThrGlnSerProGlyTyrSerTyrArgThrThrAlaLeuArgProGlyAsnProProSerHisGlySerSerGluSerSerLeuSerSerThrSerTyrSerSerProAlaHisProValSerThrAspSerLeuAlaProPheThrGlyThrProGlyTyrPheSerSerGlnProHisSerGlyAsnSerThrGlySerAsnLeuProArgArgSerCysProSerSerAlaAlaSerProThrLeuGlnGlyProSerAspSerProThrSerAspSerValSerGlnSerSerThrGlyThrLeuSerSerThrSerPheProGlnAsnSerArgSerSerLeuProSerAspLeuArgThrIleSerLeuProSerAlaGlyGlnSerAlaValTyrGlnAlaSerArgValSerAlaValSerAsnSerGlnHisTyrProHisArgGlySerGlyGlyValHisGlnTyrArgLeuGlnProLeuGlnGlySerGlyValLysThrGlnThrGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688013" } ], "type": "nucleotide" }