{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA272775", "communityStandardTitle": [ "NM_001083961.2(WDR62):c.2655C>G (p.Tyr885Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169511[alleleid]", "alleleId": 169511, "preferredName": "NM_001083961.2(WDR62):c.2655C>G (p.Tyr885Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/160272", "RCV": [ "RCV000147941" ], "variationId": 160272 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.36590435C>G?assembly=hg19", "id": "chr19:g.36590435C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.36099533C>G?assembly=hg38", "id": "chr19:g.36099533C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587784549", "rs": 587784549 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "G", "end": 36099533, 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[ { "allele": "G", "end": 2655, "referenceAllele": "C", "start": 2654 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000270301.12:c.2655C>G" ], "proteinEffect": { "hgvs": "ENSP00000270301.6:p.Tyr885Ter", "hgvsWellDefined": "ENSP00000270301.6:p.Tyr885_His1518delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743154" }, { "coordinates": [ { "allele": "G", "end": 2730, "referenceAllele": "C", "start": 2729 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000401500.7:c.2655C>G" ], "proteinEffect": { "hgvs": "ENSP00000384792.1:p.Tyr885Ter", "hgvsWellDefined": "ENSP00000384792.1:p.Tyr885_His1523delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753966", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000401500.7:c.2655C>G" }, "RefSeq": { "hgvs": "NM_001083961.2:c.2655C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384792.1:p.Tyr885Ter" }, "RefSeq": { "hgvs": "NP_001077430.1:p.Tyr885Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2806, "referenceAllele": "C", "start": 2805 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000587391.6:c.*1345C>G" ], "proteinEffect": { "hgvs": "ENSP00000465525.1:n.*1345C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS761080" }, { "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000679357.1:c.445C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS778990" }, { "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000679422.1:c.445C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS779053" }, { "coordinates": [ { "allele": "G", "end": 2715, "referenceAllele": "C", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000679682.1:c.2640C>G" ], "proteinEffect": { "hgvs": "ENSP00000506226.1:p.Tyr880Ter", "hgvsWellDefined": "ENSP00000506226.1:p.Tyr880_His1518delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779309" }, { "coordinates": [ { "allele": "G", "end": 2724, "referenceAllele": "C", "start": 2723 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000679714.1:c.2649C>G" ], "proteinEffect": { "hgvs": "ENSP00000506627.1:p.Tyr883Ter", "hgvsWellDefined": "ENSP00000506627.1:p.Tyr883_His1521delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779341" }, { "coordinates": [ { "allele": "G", "end": 2346, "referenceAllele": "C", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000679757.1:c.2304C>G" ], "proteinEffect": { "hgvs": "ENSP00000505158.1:p.Tyr768Ter", "hgvsWellDefined": "ENSP00000505158.1:p.Tyr768_His1406delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779382" }, { "coordinates": [ { "allele": "G", "end": 2438, "referenceAllele": "C", "start": 2437 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000679858.1:c.*1452C>G" ], "proteinEffect": { "hgvs": "ENSP00000505655.1:n.*1452C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS779480" }, { "coordinates": [ { "allele": "G", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000680349.1:n.638C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS779967" }, { "coordinates": [ { "allele": "G", "end": 929, "referenceAllele": "C", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000680377.1:c.929C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS779995" }, { "coordinates": [ { "allele": "G", "end": 2730, "referenceAllele": "C", "start": 2729 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000680403.1:c.2655C>G" ], "proteinEffect": { "hgvs": "ENSP00000505677.1:p.Tyr885Ter", "hgvsWellDefined": "ENSP00000505677.1:p.Tyr885_Ser1434delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780021" }, { "coordinates": [ { "allele": "G", "end": 2730, "referenceAllele": "C", "start": 2729 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000680564.1:c.2655C>G" ], "proteinEffect": { "hgvs": "ENSP00000505582.1:p.Tyr885Ter", "hgvsWellDefined": "ENSP00000505582.1:p.Tyr885_His1440delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780179" }, { "coordinates": [ { "allele": "G", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000680590.1:c.*1054C>G" ], "proteinEffect": { "hgvs": "ENSP00000505350.1:n.*1054C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS780205" }, { "coordinates": [ { "allele": "G", "end": 2794, "referenceAllele": "C", "start": 2793 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000680806.1:c.*1484C>G" ], "proteinEffect": { "hgvs": "ENSP00000506418.1:n.*1484C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS780421" }, { "coordinates": [ { "allele": "G", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000680858.1:c.853C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS780472" }, { "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000681088.1:c.445C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS780701" }, { "coordinates": [ { "allele": "G", "end": 1041, "referenceAllele": "C", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000681302.1:c.1041C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS780913" }, { "coordinates": [ { "allele": "G", "end": 2646, "referenceAllele": "C", "start": 2645 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000681625.1:c.2636C>G" ], "proteinEffect": { "hgvs": "ENSP00000505555.1:p.Thr879Ser", "hgvsWellDefined": "ENSP00000505555.1:p.Thr879Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS781231" }, { "coordinates": [ { "allele": "G", "end": 2655, "referenceAllele": "C", "start": 2654 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000270301.11:c.2655C>G" ], "proteinEffect": { "hgvs": "ENSP00000270301.6:p.Tyr885Ter", "hgvsWellDefined": "ENSP00000270301.6:p.Tyr885_His1518delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252237" }, { "coordinates": [ { "allele": "G", "end": 2690, "referenceAllele": "C", "start": 2689 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000401500.6:c.2655C>G" ], "proteinEffect": { "hgvs": "ENSP00000384792.1:p.Tyr885Ter", "hgvsWellDefined": "ENSP00000384792.1:p.Tyr885_His1523delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279248" }, { "coordinates": [ { "allele": "G", "end": 2806, "referenceAllele": "C", "start": 2805 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "ENST00000587391.5:c.*1345C>G" ], "proteinEffect": { "hgvs": "ENSP00000465525.1:n.*1345C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS390046" }, { "@id": "http://reg.genome.network/allele/PA272776", "coordinates": [ { "allele": "G", "end": 2746, "referenceAllele": "C", "start": 2745 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "NM_001083961.1:c.2655C>G" ], "proteinEffect": { "hgvs": "NP_001077430.1:p.Tyr885Ter", "hgvsWellDefined": "NP_001077430.1:p.Tyr885_His1523delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010430" }, { "@id": "http://reg.genome.network/allele/PA916068216", "coordinates": [ { "allele": "G", "end": 2746, "referenceAllele": "C", "start": 2745 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "NM_173636.4:c.2655C>G" ], "proteinEffect": { "hgvs": "NP_775907.4:p.Tyr885Ter", "hgvsWellDefined": "NP_775907.4:p.Tyr885_His1518delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042964" }, { "coordinates": [ { "allele": "G", "end": 2746, "referenceAllele": "C", "start": 2745 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_005258809.2:c.2655C>G" ], "proteinEffect": { "hgvs": "XP_005258866.1:p.Tyr885Ter", "hgvsWellDefined": "XP_005258866.1:p.Tyr885_His1486delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062186" }, { "coordinates": [ { "allele": "G", "end": 2731, "referenceAllele": "C", "start": 2730 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_011526837.1:c.2640C>G" ], "proteinEffect": { "hgvs": "XP_011525139.1:p.Tyr880Ter", "hgvsWellDefined": "XP_011525139.1:p.Tyr880_His1518delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093936" }, { "coordinates": [ { "allele": "G", "end": 2746, "referenceAllele": "C", "start": 2745 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_011526838.1:c.2655C>G" ], "proteinEffect": { "hgvs": "XP_011525140.1:p.Tyr885Ter", "hgvsWellDefined": "XP_011525140.1:p.Tyr885_His1440delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093937" }, { "coordinates": [ { "allele": "G", "end": 2395, "referenceAllele": "C", "start": 2394 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_011526839.1:c.2304C>G" ], "proteinEffect": { "hgvs": "XP_011525141.1:p.Tyr768Ter", "hgvsWellDefined": "XP_011525141.1:p.Tyr768_His1406delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093938" }, { "coordinates": [ { "allele": "G", "end": 1735, "referenceAllele": "C", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_011526840.1:c.1647C>G" ], "proteinEffect": { "hgvs": "XP_011525142.1:p.Tyr549Ter", "hgvsWellDefined": "XP_011525142.1:p.Tyr549_His1187delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093939" }, { "coordinates": [ { "allele": "G", "end": 1356, "referenceAllele": "C", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_011526841.1:c.1233C>G" ], "proteinEffect": { "hgvs": "XP_011525143.1:p.Tyr411Ter", "hgvsWellDefined": "XP_011525143.1:p.Tyr411_His1049delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093940" }, { "coordinates": [ { "allele": "G", "end": 1194, "referenceAllele": "C", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_011526842.1:c.1086C>G" ], "proteinEffect": { "hgvs": "XP_011525144.1:p.Tyr362Ter", "hgvsWellDefined": "XP_011525144.1:p.Tyr362_His1000delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093941" }, { "coordinates": [ { "allele": "G", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_011526843.1:c.402C>G" ], "proteinEffect": { "hgvs": "XP_011525145.1:p.Tyr134Ter", "hgvsWellDefined": "XP_011525145.1:p.Tyr134_His772delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093942" }, { "coordinates": [ { "allele": "G", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_011526844.1:c.402C>G" ], "proteinEffect": { "hgvs": "XP_011525146.1:p.Tyr134Ter", "hgvsWellDefined": "XP_011525146.1:p.Tyr134_His772delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093943" }, { "coordinates": [ { "allele": "G", "end": 1741, "referenceAllele": "C", "start": 1740 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_011526840.2:c.1647C>G" ], "proteinEffect": { "hgvs": "XP_011525142.1:p.Tyr549Ter", "hgvsWellDefined": "XP_011525142.1:p.Tyr549_His1187delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548429" }, { "coordinates": [ { "allele": "G", "end": 1362, "referenceAllele": "C", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_011526841.2:c.1233C>G" ], "proteinEffect": { "hgvs": "XP_011525143.1:p.Tyr411Ter", "hgvsWellDefined": "XP_011525143.1:p.Tyr411_His1049delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548430" }, { "coordinates": [ { "allele": "G", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_011526844.2:c.402C>G" ], "proteinEffect": { "hgvs": "XP_011525146.1:p.Tyr134Ter", "hgvsWellDefined": "XP_011525146.1:p.Tyr134_His772delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548431" }, { "coordinates": [ { "allele": "G", "end": 2746, "referenceAllele": "C", "start": 2745 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "XM_017026665.1:c.2655C>G" ], "proteinEffect": { "hgvs": "XP_016882154.1:p.Tyr885Ter", "hgvsWellDefined": "XP_016882154.1:p.Tyr885_His1523delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576763" }, { "@id": "http://reg.genome.network/allele/PA272776", "coordinates": [ { "allele": "G", "end": 2730, "referenceAllele": "C", "start": 2729 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "NM_001083961.2:c.2655C>G" ], "proteinEffect": { "hgvs": "NP_001077430.1:p.Tyr885Ter", "hgvsWellDefined": "NP_001077430.1:p.Tyr885_His1523delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgGluLeuPheProAlaAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663340", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000401500.7:c.2655C>G" }, "RefSeq": { "hgvs": "NM_001083961.2:c.2655C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384792.1:p.Tyr885Ter" }, "RefSeq": { "hgvs": "NP_001077430.1:p.Tyr885Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916068216", "coordinates": [ { "allele": "G", "end": 2730, "referenceAllele": "C", "start": 2729 } ], "gene": "http://reg.genome.network/gene/GN024502", "geneNCBI_id": 284403, "geneSymbol": "WDR62", "hgvs": [ "NM_173636.5:c.2655C>G" ], "proteinEffect": { "hgvs": "NP_775907.4:p.Tyr885Ter", "hgvsWellDefined": "NP_775907.4:p.Tyr885_His1518delinsPheThrProMetLysProGluSerLeuGluAsnSerIleLeuAspSerLeuGluProGlnSerLeuAlaSerLeuLeuSerGluSerGluSerProGlnGluAlaGlyArgGlyHisProSerPheLeuProGlnGlnLysGluSerSerGluAlaSerGluLeuIleLeuTyrSerLeuGluAlaGluValThrValThrGlyThrAspSerGlnTyrCysArgLysGluValGluAlaGlyProGlyAspGlnGlnGlyAspSerTyrLeuArgValSerSerAspSerProLysAspGlnSerProProGluAspSerGlyGluSerGluAlaAspLeuGluCysSerPheAlaAlaIleHisSerProAlaProProProAspProAlaProArgPheAlaThrSerLeuProHisPheProGlyCysAlaGlyProThrGluAspGluLeuSerLeuProGluGlyProSerValProSerSerSerLeuProGlnThrProGluGlnGluLysPheLeuArgHisHisPheGluThrLeuThrGluSerProCysArgAlaLeuGlyAspValGluAlaSerGluAlaGluAspHisPhePheAsnProArgLeuSerIleSerThrGlnPheLeuSerSerLeuGlnLysAlaSerArgPheThrHisThrPheProProArgAlaThrGlnCysLeuValLysSerProGluValLysLeuMetAspArgGlyGlySerGlnProArgAlaGlyThrGlyTyrAlaSerProAspArgThrHisValLeuAlaAlaGlyLysAlaGluGluThrLeuGluAlaTrpArgProProProProCysLeuThrSerLeuAlaSerCysValProAlaSerSerValLeuProThrAspArgAsnLeuProThrProThrSerAlaProThrProGlyLeuAlaGlnGlyValHisAlaProSerThrCysSerTyrMetGluAlaThrAlaSerSerArgAlaArgIleSerArgSerIleSerLeuGlyAspSerGluGlyProIleValAlaThrLeuAlaGlnProLeuArgArgProSerSerValGlyGluLeuAlaSerLeuGlyGlnGluLeuGlnAlaIleThrThrAlaThrThrProSerLeuAspSerGluGlyGlnGluProAlaLeuArgSerTrpGlyAsnHisGluAlaArgAlaAsnLeuArgLeuThrLeuSerSerAlaCysAspGlyLeuLeuGlnProProValAspThrGlnProGlyValThrValProAlaValSerPheProAlaProSerProValGluGluSerAlaLeuArgLeuHisGlySerAlaPheArgProSerLeuProAlaProGluSerProGlyLeuProAlaHisProSerAsnProGlnLeuProGluAlaArgProGlyIleProGlyGlyThrAlaSerLeuLeuGluProThrSerGlyAlaLeuGlyLeuLeuGlnGlySerProAlaArgTrpSerGluProTrpValProValGluAlaLeuProProSerProLeuGluLeuSerArgValGlyAsnIleLeuHisArgLeuGlnThrThrPheGlnGluAlaLeuAspLeuTyrArgValLeuValSerSerGlyGlnValAspThrGlyGlnGlnGlnAlaArgThrGluLeuValSerThrPheLeuTrpIleHisSerGlnLeuGluAlaGluCysLeuValGlyThrSerValAlaProAlaGlnAlaLeuProSerProGlyProProSerProProThrLeuTyrProLeuAlaSerProAspLeuGlnAlaLeuLeuGluHisTyrSerGluLeuLeuValGlnAlaValArgArgLysAlaArgGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700622" } ], "type": "nucleotide" }