{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA411286825", "communityStandardTitle": [ "NM_001242896.3(DEPDC5):c.2446C>T (p.Gln816Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1317405[alleleid]", "alleleId": 1317405, "preferredName": "NM_001242896.3(DEPDC5):c.2446C>T (p.Gln816Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1327134", "RCV": [ "RCV001787417", "RCV002463033" ], "variationId": 1327134 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.32234762C>T?assembly=hg19", "id": "chr22:g.32234762C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.31838776C>T?assembly=hg38", "id": "chr22:g.31838776C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2148968418", "rs": 2148968418 } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 31838776, "referenceAllele": "C", "start": 31838775 } ], "hgvs": [ "NC_000022.11:g.31838776C>T", "CM000684.2:g.31838776C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 32234762, "referenceAllele": "C", "start": 32234761 } ], "hgvs": [ "NC_000022.10:g.32234762C>T", "CM000684.1:g.32234762C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 30564762, "referenceAllele": "C", "start": 30564761 } ], "hgvs": [ "NC_000022.9:g.30564762C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "T", "end": 89826, "referenceAllele": "C", "start": 89825 } ], "hgvs": [ "NG_034067.1:g.89826C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005726" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2532, "referenceAllele": "C", "start": 2531 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000382112.8:c.2446C>T" ], "proteinEffect": { "hgvs": "ENSP00000371546.4:p.Gln816Ter", "hgvsWellDefined": "ENSP00000371546.4:p.Gln816_Pro1603delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752624" }, { "coordinates": [ { "allele": "T", "end": 2311, "referenceAllele": "C", "start": 2310 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000400246.7:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000383105.3:p.Gln738Ter", "hgvsWellDefined": "ENSP00000383105.3:p.Gln738_Pro1343delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetPheIleLeuAlaCysIleCysAsnGlnAlaIleHisCysSerTyrThrLysLysProTyrLeuThrIleProHisArgSerAlaHisSerLeuAlaLysLeuSerValSerSerArgThrAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753907" }, { "coordinates": [ { "allele": "T", "end": 2502, "referenceAllele": "C", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000400248.7:c.2419C>T" ], "proteinEffect": { "hgvs": "ENSP00000383107.1:p.Gln807Ter", "hgvsWellDefined": "ENSP00000383107.1:p.Gln807_Pro1572delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753908" }, { "coordinates": [ { "allele": "T", "end": 2538, "referenceAllele": "C", "start": 2537 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000400249.7:c.2446C>T" ], "proteinEffect": { "hgvs": "ENSP00000383108.3:p.Gln816Ter", "hgvsWellDefined": "ENSP00000383108.3:p.Gln816_Pro1581delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753909" }, { "coordinates": [ { "allele": "T", "end": 2464, "referenceAllele": "C", "start": 2463 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000433147.2:c.2362C>T" ], "proteinEffect": { "hgvs": "ENSP00000410544.2:p.Gln788Ter", "hgvsWellDefined": "ENSP00000410544.2:p.Gln788_Pro1575delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755443" }, { "coordinates": [ { "allele": "T", "end": 502, "referenceAllele": "C", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000448753.6:c.502C>T" ], "proteinEffect": { "hgvs": "ENSP00000402173.1:p.Gln168Ter", "hgvsWellDefined": "ENSP00000402173.1:p.Gln168_Phe659delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnTrpProCysSerSerProProProProGlyThrGlnGlnGluTrpThrThrSerProAlaSerSerAlaSerGlyLeuArgTrpProLeuTrpGlnLysSerSerCysThrLeuArgPheLeuProPheSerCysProGlyCysLeuAlaGlyGlnProProMetGlnValGlyThrAlaProLeuAlaGluValLeuGluAspGlyAlaArgArgGlnHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756187" }, { "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "C", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000535622.6:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000440210.1:p.Gln738Ter", "hgvsWellDefined": "ENSP00000440210.1:p.Gln738_Pro1503delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759447" }, { "coordinates": [ { "allele": "T", "end": 2182, "referenceAllele": "C", "start": 2181 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000642551.1:n.2182C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766805" }, { "coordinates": [ { "allele": "T", "end": 2637, "referenceAllele": "C", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000642684.1:c.*2139C>T" ], "proteinEffect": { "hgvs": "ENSP00000494554.1:n.*2139C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766875" }, { "coordinates": [ { "allele": "T", "end": 2643, "referenceAllele": "C", "start": 2642 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000642696.1:c.2419C>T" ], "proteinEffect": { "hgvs": "ENSP00000495917.1:p.Gln807Ter", "hgvsWellDefined": "ENSP00000495917.1:p.Gln807_Pro1572delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766883" }, { "coordinates": [ { "allele": "T", "end": 2456, "referenceAllele": "C", "start": 2455 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000642771.1:c.*457C>T" ], "proteinEffect": { "hgvs": "ENSP00000496278.1:n.*457C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766919" }, { "coordinates": [ { "allele": "T", "end": 2328, "referenceAllele": "C", "start": 2327 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000643395.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000496630.1:p.Gln738Ter", "hgvsWellDefined": "ENSP00000496630.1:p.Gln738_Phe1207delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnTrpProCysSerSerProProProProGlyThrGlnGlnGluTrpThrThrSerProAlaSerSerAlaSerGlyLeuArgTrpProLeuTrpGlnLysSerSerCysThrLeuArgPheLeuProPheSerCysProGlyCysLeuAlaGlyGlnProProMetGlnValGlyThrAlaProLeuAlaGluValLeuGluAspGlyAlaArgArgGlnHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767259" }, { "coordinates": [ { "allele": "T", "end": 2521, "referenceAllele": "C", "start": 2520 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000643751.2:c.2446C>T" ], "proteinEffect": { "hgvs": "ENSP00000495496.1:p.Gln816Ter", "hgvsWellDefined": "ENSP00000495496.1:p.Gln816_Val1187delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerGlyHisAlaAlaAlaArgHisHisLeuAlaHisSerArgSerGlyArgLeuArgGlnLeuProAlaGlnValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767450" }, { "coordinates": [ { "allele": "T", "end": 2385, "referenceAllele": "C", "start": 2384 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000644162.1:c.*1074C>T" ], "proteinEffect": { "hgvs": "ENSP00000495371.1:n.*1074C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767671" }, { "coordinates": [ { "allele": "T", "end": 2591, "referenceAllele": "C", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000644331.1:c.2446C>T" ], "proteinEffect": { "hgvs": "ENSP00000494406.1:p.Gln816Ter", "hgvsWellDefined": "ENSP00000494406.1:p.Gln816_Pro1581delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767765" }, { "coordinates": [ { "allele": "T", "end": 2477, "referenceAllele": "C", "start": 2476 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000645407.1:c.2470C>T" ], "proteinEffect": { "hgvs": "ENSP00000496252.1:p.Gln824Ter", "hgvsWellDefined": "ENSP00000496252.1:p.Gln824_Pro1589delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768335" }, { "coordinates": [ { "allele": "T", "end": 2513, "referenceAllele": "C", "start": 2512 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000645494.1:c.*430C>T" ], "proteinEffect": { "hgvs": "ENSP00000495338.1:n.*430C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768384" }, { "coordinates": [ { "allele": "T", "end": 2337, "referenceAllele": "C", "start": 2336 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000645560.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000495544.1:p.Gln738Ter", "hgvsWellDefined": "ENSP00000495544.1:p.Gln738_Pro1525delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768427" }, { "coordinates": [ { "allele": "T", "end": 2576, "referenceAllele": "C", "start": 2575 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000645711.1:c.2419C>T" ], "proteinEffect": { "hgvs": "ENSP00000493489.1:p.Gln807Ter", "hgvsWellDefined": "ENSP00000493489.1:p.Gln807_Pro1594delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768513" }, { "coordinates": [ { "allele": "T", "end": 2422, "referenceAllele": "C", "start": 2421 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000645755.1:c.*1318C>T" ], "proteinEffect": { "hgvs": "ENSP00000495873.1:n.*1318C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768528" }, { "coordinates": [ { "allele": "T", "end": 1303, "referenceAllele": "C", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000645893.1:n.1303C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768590" }, { "coordinates": [ { "allele": "T", "end": 2369, "referenceAllele": "C", "start": 2368 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000646465.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000495655.1:p.Gln738Ter", "hgvsWellDefined": "ENSP00000495655.1:p.Gln738_Gly1496delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyGluGluLeuArgAlaGluLeuGlyArgAsnSerValSerAlaAlaAlaLeuLeuGlnAlaGlnValLeuArgAlaAlaAlaAlaAlaAlaGluLeuHisGlnLeuHisGlnProGluHisValLeuArgGlyAlaGlyArgLeuGlnLeuGlyLeuGlnHisHisAlaHisGlnAsnMetAlaLeuGlnArgHisArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768890" }, { "coordinates": [ { "allele": "T", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000646515.1:c.2446C>T" ], "proteinEffect": { "hgvs": "ENSP00000494700.1:p.Gln816Ter", "hgvsWellDefined": "ENSP00000494700.1:p.Gln816_Pro1198delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerArgLysTrpArgLeuPheLeuIlePheValLeuLeuThrAlaTyrValProSerCysPheAlaAspLeuThrProCysValThrAlaLeuSerSerTrpTrpGlnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768919" }, { "coordinates": [ { "allele": "T", "end": 1809, "endIntronDirection": "+", "endIntronOffset": 19551, "referenceAllele": "C", "start": 1809, "startIntronDirection": "+", "startIntronOffset": 19550 } ], "hgvs": [ "ENST00000646701.1:c.1786+19551C>T" ], "proteinEffect": { "hgvs": "ENSP00000496158.1:n.1786+19551C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769020" }, { "coordinates": [ { "allele": "T", "end": 2442, "referenceAllele": "C", "start": 2441 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000646969.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000496724.1:p.Gln738Ter", "hgvsWellDefined": "ENSP00000496724.1:p.Gln738_Pro1525delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769167" }, { "coordinates": [ { "allele": "T", "end": 2628, "referenceAllele": "C", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000646998.1:c.2446C>T" ], "proteinEffect": { "hgvs": "ENSP00000494662.1:p.Gln816Ter", "hgvsWellDefined": "ENSP00000494662.1:p.Gln816_Phe1285delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnTrpProCysSerSerProProProProGlyThrGlnGlnGluTrpThrThrSerProAlaSerSerAlaSerGlyLeuArgTrpProLeuTrpGlnLysSerSerCysThrLeuArgPheLeuProPheSerCysProGlyCysLeuAlaGlyGlnProProMetGlnValGlyThrAlaProLeuAlaGluValLeuGluAspGlyAlaArgArgGlnHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769180" }, { "coordinates": [ { "allele": "T", "end": 2573, "referenceAllele": "C", "start": 2572 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000647343.1:c.2362C>T" ], "proteinEffect": { "hgvs": "ENSP00000494879.1:p.Gln788Ter", "hgvsWellDefined": "ENSP00000494879.1:p.Gln788Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS769363" }, { "coordinates": [ { "allele": "T", "end": 2652, "referenceAllele": "C", "start": 2651 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000651528.2:c.2446C>T" ], "proteinEffect": { "hgvs": "ENSP00000498382.1:p.Gln816Ter", "hgvsWellDefined": "ENSP00000498382.1:p.Gln816_Pro1603delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771716", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651528.2:c.2446C>T" }, "RefSeq": { "hgvs": "NM_001242896.3:c.2446C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498382.1:p.Gln816Ter" }, "RefSeq": { "hgvs": "NP_001229825.1:p.Gln816Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2506, "referenceAllele": "C", "start": 2505 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000382111.6:c.2446C>T" ], "proteinEffect": { "hgvs": "ENSP00000371545.2:p.Gln816Ter", "hgvsWellDefined": "ENSP00000371545.2:p.Gln816_Cys1552delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerLeuGlyLeuTyrLysIleAsnIleLeuProLeuLeuLeuThrSerLeuLeuArgThrSerLeuSerIleSerThrLeuGlnGluGlnCysPheCysSerCysProThrProSerAlaSerSerGlnGlySerSerGlyGlyGlyGlyThrProProAlaProProThrArgThrCysSerAlaArgSerGlySerAlaThrThrGlyProThrThrProCysSerProLysHisGlyAlaProAlaProGlnGlyMetLysSerLeuLeuIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273625" }, { "coordinates": [ { "allele": "T", "end": 2489, "referenceAllele": "C", "start": 2488 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000382112.7:c.2419C>T" ], "proteinEffect": { "hgvs": "ENSP00000371546.3:p.Gln807Ter", "hgvsWellDefined": "ENSP00000371546.3:p.Gln807_Pro1594delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273626" }, { "coordinates": [ { "allele": "T", "end": 2648, "referenceAllele": "C", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000400246.5:c.2446C>T" ], "proteinEffect": { "hgvs": "ENSP00000383105.2:p.Gln816Ter", "hgvsWellDefined": "ENSP00000383105.2:p.Gln816_Pro1603delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278963" }, { "coordinates": [ { "allele": "T", "end": 2478, "referenceAllele": "C", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000400248.6:c.2419C>T" ], "proteinEffect": { "hgvs": "ENSP00000383107.1:p.Gln807Ter", "hgvsWellDefined": "ENSP00000383107.1:p.Gln807_Pro1572delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278965" }, { "coordinates": [ { "allele": "T", "end": 2621, "referenceAllele": "C", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000400249.6:c.2419C>T" ], "proteinEffect": { "hgvs": "ENSP00000383108.2:p.Gln807Ter", "hgvsWellDefined": "ENSP00000383108.2:p.Gln807_Pro1572delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278966" }, { "coordinates": [ { "allele": "T", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000433147.1:c.638C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS292407" }, { "coordinates": [ { "allele": "T", "end": 502, "referenceAllele": "C", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000448753.5:c.502C>T" ], "proteinEffect": { "hgvs": "ENSP00000402173.1:p.Gln168Ter", "hgvsWellDefined": "ENSP00000402173.1:p.Gln168_Phe659delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnTrpProCysSerSerProProProProGlyThrGlnGlnGluTrpThrThrSerProAlaSerSerAlaSerGlyLeuArgTrpProLeuTrpGlnLysSerSerCysThrLeuArgPheLeuProPheSerCysProGlyCysLeuAlaGlyGlnProProMetGlnValGlyThrAlaProLeuAlaGluValLeuGluAspGlyAlaArgArgGlnHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299869" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000471914.5:n.364C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS314007" }, { "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000490731.1:n.400C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS328481" }, { "coordinates": [ { "allele": "T", "end": 2318, "referenceAllele": "C", "start": 2317 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "ENST00000535622.5:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000440210.1:p.Gln738Ter", "hgvsWellDefined": "ENSP00000440210.1:p.Gln738_Pro1503delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359835" }, { "@id": "http://reg.genome.network/allele/PA2825811435", "coordinates": [ { "allele": "T", "end": 2479, "referenceAllele": "C", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001136029.2:c.2419C>T" ], "proteinEffect": { "hgvs": "NP_001129501.1:p.Gln807Ter", "hgvsWellDefined": "NP_001129501.1:p.Gln807_Pro1594delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012573" }, { "@id": "http://reg.genome.network/allele/PA2826310555", "coordinates": [ { "allele": "T", "end": 2648, "referenceAllele": "C", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001242896.1:c.2446C>T" ], "proteinEffect": { "hgvs": "NP_001229825.1:p.Gln816Ter", "hgvsWellDefined": "NP_001229825.1:p.Gln816_Pro1603delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018345" }, { "@id": "http://reg.genome.network/allele/PA2826311698", "coordinates": [ { "allele": "T", "end": 2318, "referenceAllele": "C", "start": 2317 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001242897.1:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001229826.1:p.Gln738Ter", "hgvsWellDefined": "NP_001229826.1:p.Gln738_Pro1503delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018346" }, { "@id": "http://reg.genome.network/allele/PA2829766015", "coordinates": [ { "allele": "T", "end": 2479, "referenceAllele": "C", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_014662.4:c.2419C>T" ], "proteinEffect": { "hgvs": "NP_055477.1:p.Gln807Ter", "hgvsWellDefined": "NP_055477.1:p.Gln807_Pro1572delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033349" }, { "coordinates": [ { "allele": "T", "end": 2414, "referenceAllele": "C", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NR_110988.1:n.2414C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055088" }, { "coordinates": [ { "allele": "T", "end": 2552, "referenceAllele": "C", "start": 2551 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_005261862.1:c.2446C>T" ], "proteinEffect": { "hgvs": "XP_005261919.1:p.Gln816Ter", "hgvsWellDefined": "XP_005261919.1:p.Gln816_Pro1603delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063254" }, { "coordinates": [ { "allele": "T", "end": 2616, "referenceAllele": "C", "start": 2615 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530557.1:c.2419C>T" ], "proteinEffect": { "hgvs": "XP_011528859.1:p.Gln807Ter", "hgvsWellDefined": "XP_011528859.1:p.Gln807_Pro1594delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097613" }, { "coordinates": [ { "allele": "T", "end": 2643, "referenceAllele": "C", "start": 2642 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530558.1:c.2446C>T" ], "proteinEffect": { "hgvs": "XP_011528860.1:p.Gln816Ter", "hgvsWellDefined": "XP_011528860.1:p.Gln816_Pro1581delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097614" }, { "coordinates": [ { "allele": "T", "end": 2616, "referenceAllele": "C", "start": 2615 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530559.1:c.2419C>T" ], "proteinEffect": { "hgvs": "XP_011528861.1:p.Gln807Ter", "hgvsWellDefined": "XP_011528861.1:p.Gln807_Pro1572delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097615" }, { "coordinates": [ { "allele": "T", "end": 2409, "referenceAllele": "C", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530560.1:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011528862.1:p.Gln738Ter", "hgvsWellDefined": "XP_011528862.1:p.Gln738_Pro1525delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097616" }, { "coordinates": [ { "allele": "T", "end": 2382, "referenceAllele": "C", "start": 2381 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530561.1:c.2185C>T" ], "proteinEffect": { "hgvs": "XP_011528863.1:p.Gln729Ter", "hgvsWellDefined": "XP_011528863.1:p.Gln729_Pro1516delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097617" }, { "coordinates": [ { "allele": "T", "end": 2643, "referenceAllele": "C", "start": 2642 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530562.1:c.2446C>T" ], "proteinEffect": { "hgvs": "XP_011528864.1:p.Gln816Ter", "hgvsWellDefined": "XP_011528864.1:p.Gln816_Cys1515delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetAlaLeuAsnProLysArgThrGlyIleGluCysThrSerSerArgLysProLeuHisThrGlyLeuGlyLeuTyrLysIleAsnIleLeuProLeuLeuLeuThrSerLeuLeuArgThrSerLeuSerIleSerThrLeuGlnGluGlnCysPheCysSerCysProThrProSerAlaSerSerGlnGlySerSerGlyGlyGlyGlyThrProProAlaProProThrArgThrCysSerAlaArgSerGlySerAlaThrThrGlyProThrThrProCysSerProLysHisGlyAlaProAlaProGlnGlyMetLysSerLeuLeuIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097618" }, { "coordinates": [ { "allele": "T", "end": 2409, "referenceAllele": "C", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530563.1:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011528865.1:p.Gln738Ter", "hgvsWellDefined": "XP_011528865.1:p.Gln738_Pro1503delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097619" }, { "coordinates": [ { "allele": "T", "end": 2643, "referenceAllele": "C", "start": 2642 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530564.1:c.2446C>T" ], "proteinEffect": { "hgvs": "XP_011528866.1:p.Gln816Ter", "hgvsWellDefined": "XP_011528866.1:p.Gln816_Pro1443delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetPheIleLeuAlaCysIleCysAsnGlnAlaIleHisCysSerTyrThrLysLysProTyrLeuThrIleProHisArgSerAlaHisSerLeuAlaLysLeuSerValSerSerArgThrAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097620" }, { "coordinates": [ { "allele": "T", "end": 2643, "referenceAllele": "C", "start": 2642 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530565.1:c.2446C>T" ], "proteinEffect": { "hgvs": "XP_011528867.1:p.Gln816Ter", "hgvsWellDefined": "XP_011528867.1:p.Gln816_Phe1307delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnTrpProCysSerSerProProProProGlyThrGlnGlnGluTrpThrThrSerProAlaSerSerAlaSerGlyLeuArgTrpProLeuTrpGlnLysSerSerCysThrLeuArgPheLeuProPheSerCysProGlyCysLeuAlaGlyGlnProProMetGlnValGlyThrAlaProLeuAlaGluValLeuGluAspGlyAlaArgArgGlnHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097621" }, { "coordinates": [ { "allele": "T", "end": 2643, "referenceAllele": "C", "start": 2642 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530566.1:c.2446C>T" ], "proteinEffect": { "hgvs": "XP_011528868.1:p.Gln816Ter", "hgvsWellDefined": "XP_011528868.1:p.Gln816_Pro1198delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerArgLysTrpArgLeuPheLeuIlePheValLeuLeuThrAlaTyrValProSerCysPheAlaAspLeuThrProCysValThrAlaLeuSerSerTrpTrpGlnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097622" }, { "coordinates": [ { "allele": "T", "end": 2643, "referenceAllele": "C", "start": 2642 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530567.1:c.2446C>T" ], "proteinEffect": { "hgvs": "XP_011528869.1:p.Gln816Ter", "hgvsWellDefined": "XP_011528869.1:p.Gln816_Val1187delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerGlyHisAlaAlaAlaArgHisHisLeuAlaHisSerArgSerGlyArgLeuArgGlnLeuProAlaGlnValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097623" }, { "coordinates": [ { "allele": "T", "end": 2643, "referenceAllele": "C", "start": 2642 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530568.1:c.2446C>T" ], "proteinEffect": { "hgvs": "XP_011528870.1:p.Gln816Ter", "hgvsWellDefined": "XP_011528870.1:p.Gln816_Pro1176delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerArgLysTrpArgLeuPheLeuIlePheValLeuLeuThrAlaTyrValProSerCysPheAlaAspLeuThrProCysValThrAlaLeuSerSerTrpTrpGlnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097624" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530569.1:c.340C>T" ], "proteinEffect": { "hgvs": "XP_011528871.1:p.Gln114Ter", "hgvsWellDefined": "XP_011528871.1:p.Gln114_Pro901delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097625" }, { "coordinates": [ { "allele": "T", "end": 2643, "referenceAllele": "C", "start": 2642 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XR_937972.1:n.2643C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132712" }, { "coordinates": [ { "allele": "T", "end": 2409, "referenceAllele": "C", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XR_937973.1:n.2409C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132713" }, { "@id": "http://reg.genome.network/allele/PA2825811435", "coordinates": [ { "allele": "T", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001136029.3:c.2419C>T" ], "proteinEffect": { "hgvs": "NP_001129501.1:p.Gln807Ter", "hgvsWellDefined": "NP_001129501.1:p.Gln807_Pro1594delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511510" }, { "@id": "http://reg.genome.network/allele/PA2826310555", "coordinates": [ { "allele": "T", "end": 2652, "referenceAllele": "C", "start": 2651 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001242896.2:c.2446C>T" ], "proteinEffect": { "hgvs": "NP_001229825.1:p.Gln816Ter", "hgvsWellDefined": "NP_001229825.1:p.Gln816_Pro1603delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511923" }, { "@id": "http://reg.genome.network/allele/PA2828122054", "coordinates": [ { "allele": "T", "end": 2552, "referenceAllele": "C", "start": 2551 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001363852.1:c.2446C>T" ], "proteinEffect": { "hgvs": "NP_001350781.1:p.Gln816Ter", "hgvsWellDefined": "NP_001350781.1:p.Gln816_Pro1581delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523602" }, { "@id": "http://reg.genome.network/allele/PA2828123370", "coordinates": [ { "allele": "T", "end": 2318, "referenceAllele": "C", "start": 2317 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001363854.1:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001350783.1:p.Gln738Ter", "hgvsWellDefined": "NP_001350783.1:p.Gln738_Pro1525delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523604" }, { "@id": "http://reg.genome.network/allele/PA2828136996", "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "C", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001364318.1:c.2446C>T" ], "proteinEffect": { "hgvs": "NP_001351247.1:p.Gln816Ter", "hgvsWellDefined": "NP_001351247.1:p.Gln816_Pro1603delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523799" }, { "@id": "http://reg.genome.network/allele/PA2828137978", "coordinates": [ { "allele": "T", "end": 2418, "referenceAllele": "C", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001364319.1:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001351248.1:p.Gln738Ter", "hgvsWellDefined": "NP_001351248.1:p.Gln738_Pro1525delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523800" }, { "@id": "http://reg.genome.network/allele/PA2573071743", "coordinates": [ { "allele": "T", "end": 2652, "referenceAllele": "C", "start": 2651 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001364320.1:c.2446C>T" ], "proteinEffect": { "hgvs": "NP_001351249.1:p.Gln816Ter", "hgvsWellDefined": "NP_001351249.1:p.Gln816_Pro1581delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523801" }, { "@id": "http://reg.genome.network/allele/PA2829766015", "coordinates": [ { "allele": "T", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_014662.5:c.2419C>T" ], "proteinEffect": { "hgvs": "NP_055477.1:p.Gln807Ter", "hgvsWellDefined": "NP_055477.1:p.Gln807_Pro1572delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525600" }, { "coordinates": [ { "allele": "T", "end": 2418, "referenceAllele": "C", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NR_110988.2:n.2418C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS527370" }, { "coordinates": [ { "allele": "T", "end": 2552, "referenceAllele": "C", "start": 2551 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NR_146296.1:n.2552C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530025" }, { "coordinates": [ { "allele": "T", "end": 2409, "referenceAllele": "C", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NR_157125.1:n.2409C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531971" }, { "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "C", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NR_157126.1:n.2535C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531972" }, { "coordinates": [ { "allele": "T", "end": 2652, "referenceAllele": "C", "start": 2651 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NR_157128.1:n.2652C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531973" }, { "coordinates": [ { "allele": "T", "end": 2628, "referenceAllele": "C", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530557.2:c.2419C>T" ], "proteinEffect": { "hgvs": "XP_011528859.1:p.Gln807Ter", "hgvsWellDefined": "XP_011528859.1:p.Gln807_Pro1594delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550038" }, { "coordinates": [ { "allele": "T", "end": 2628, "referenceAllele": "C", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530559.2:c.2419C>T" ], "proteinEffect": { "hgvs": "XP_011528861.1:p.Gln807Ter", "hgvsWellDefined": "XP_011528861.1:p.Gln807_Pro1572delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550039" }, { "coordinates": [ { "allele": "T", "end": 2394, "referenceAllele": "C", "start": 2393 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530561.2:c.2185C>T" ], "proteinEffect": { "hgvs": "XP_011528863.1:p.Gln729Ter", "hgvsWellDefined": "XP_011528863.1:p.Gln729_Pro1516delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550040" }, { "coordinates": [ { "allele": "T", "end": 2655, "referenceAllele": "C", "start": 2654 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530562.2:c.2446C>T" ], "proteinEffect": { "hgvs": "XP_011528864.1:p.Gln816Ter", "hgvsWellDefined": "XP_011528864.1:p.Gln816_Cys1515delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetAlaLeuAsnProLysArgThrGlyIleGluCysThrSerSerArgLysProLeuHisThrGlyLeuGlyLeuTyrLysIleAsnIleLeuProLeuLeuLeuThrSerLeuLeuArgThrSerLeuSerIleSerThrLeuGlnGluGlnCysPheCysSerCysProThrProSerAlaSerSerGlnGlySerSerGlyGlyGlyGlyThrProProAlaProProThrArgThrCysSerAlaArgSerGlySerAlaThrThrGlyProThrThrProCysSerProLysHisGlyAlaProAlaProGlnGlyMetLysSerLeuLeuIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550041" }, { "coordinates": [ { "allele": "T", "end": 2421, "referenceAllele": "C", "start": 2420 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530563.2:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011528865.1:p.Gln738Ter", "hgvsWellDefined": "XP_011528865.1:p.Gln738_Pro1503delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550042" }, { "coordinates": [ { "allele": "T", "end": 2655, "referenceAllele": "C", "start": 2654 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530565.2:c.2446C>T" ], "proteinEffect": { "hgvs": "XP_011528867.1:p.Gln816Ter", "hgvsWellDefined": "XP_011528867.1:p.Gln816_Phe1307delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnTrpProCysSerSerProProProProGlyThrGlnGlnGluTrpThrThrSerProAlaSerSerAlaSerGlyLeuArgTrpProLeuTrpGlnLysSerSerCysThrLeuArgPheLeuProPheSerCysProGlyCysLeuAlaGlyGlnProProMetGlnValGlyThrAlaProLeuAlaGluValLeuGluAspGlyAlaArgArgGlnHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550043" }, { "coordinates": [ { "allele": "T", "end": 2655, "referenceAllele": "C", "start": 2654 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530568.2:c.2446C>T" ], "proteinEffect": { "hgvs": "XP_011528870.1:p.Gln816Ter", "hgvsWellDefined": "XP_011528870.1:p.Gln816_Pro1176delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerArgLysTrpArgLeuPheLeuIlePheValLeuLeuThrAlaTyrValProSerCysPheAlaAspLeuThrProCysValThrAlaLeuSerSerTrpTrpGlnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550044" }, { "coordinates": [ { "allele": "T", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_011530569.2:c.340C>T" ], "proteinEffect": { "hgvs": "XP_011528871.1:p.Gln114Ter", "hgvsWellDefined": "XP_011528871.1:p.Gln114_Pro901delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550045" }, { "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_017029113.1:c.*140C>T" ], "proteinEffect": { "hgvs": "XP_016884602.1:n.*140C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578709" }, { "coordinates": [ { "allele": "T", "end": 2299, "referenceAllele": "C", "start": 2298 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_017029115.1:c.*140C>T" ], "proteinEffect": { "hgvs": "XP_016884604.1:n.*140C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578711" }, { "coordinates": [ { "allele": "T", "end": 391, "referenceAllele": "C", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XM_024452305.1:c.313C>T" ], "proteinEffect": { "hgvs": "XP_024308073.1:p.Gln105Ter", "hgvsWellDefined": "XP_024308073.1:p.Gln105_Pro892delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585802" }, { "coordinates": [ { "allele": "T", "end": 2655, "referenceAllele": "C", "start": 2654 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XR_001755389.1:n.2655C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601129" }, { "coordinates": [ { "allele": "T", "end": 2655, "referenceAllele": "C", "start": 2654 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XR_001755390.1:n.2655C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601130" }, { "coordinates": [ { "allele": "T", "end": 2421, "referenceAllele": "C", "start": 2420 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "XR_937973.2:n.2421C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611768" }, { "@id": "http://reg.genome.network/allele/PA2826310555", "coordinates": [ { "allele": "T", "end": 2652, "referenceAllele": "C", "start": 2651 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001242896.3:c.2446C>T" ], "proteinEffect": { "hgvs": "NP_001229825.1:p.Gln816Ter", "hgvsWellDefined": "NP_001229825.1:p.Gln816_Pro1603delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680152", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651528.2:c.2446C>T" }, "RefSeq": { "hgvs": "NM_001242896.3:c.2446C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498382.1:p.Gln816Ter" }, "RefSeq": { "hgvs": "NP_001229825.1:p.Gln816Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826311698", "coordinates": [ { "allele": "T", "end": 2301, "referenceAllele": "C", "start": 2300 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001242897.2:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001229826.1:p.Gln738Ter", "hgvsWellDefined": "NP_001229826.1:p.Gln738_Pro1503delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680153" }, { "@id": "http://reg.genome.network/allele/PA2828122054", "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "C", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001363852.2:c.2446C>T" ], "proteinEffect": { "hgvs": "NP_001350781.1:p.Gln816Ter", "hgvsWellDefined": "NP_001350781.1:p.Gln816_Pro1581delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690785" }, { "@id": "http://reg.genome.network/allele/PA2828123370", "coordinates": [ { "allele": "T", "end": 2301, "referenceAllele": "C", "start": 2300 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001363854.2:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001350783.1:p.Gln738Ter", "hgvsWellDefined": "NP_001350783.1:p.Gln738_Pro1525delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690786" }, { "@id": "http://reg.genome.network/allele/PA2828367928", "coordinates": [ { "allele": "T", "end": 2564, "referenceAllele": "C", "start": 2563 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001369901.1:c.2362C>T" ], "proteinEffect": { "hgvs": "NP_001356830.1:p.Gln788Ter", "hgvsWellDefined": "NP_001356830.1:p.Gln788_Pro1575delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692038" }, { "@id": "http://reg.genome.network/allele/PA2828369296", "coordinates": [ { "allele": "T", "end": 2451, "referenceAllele": "C", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001369902.1:c.2362C>T" ], "proteinEffect": { "hgvs": "NP_001356831.1:p.Gln788Ter", "hgvsWellDefined": "NP_001356831.1:p.Gln788_Pro1575delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692039" }, { "@id": "http://reg.genome.network/allele/PA2828370669", "coordinates": [ { "allele": "T", "end": 2621, "referenceAllele": "C", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001369903.1:c.2419C>T" ], "proteinEffect": { "hgvs": "NP_001356832.1:p.Gln807Ter", "hgvsWellDefined": "NP_001356832.1:p.Gln807_Pro1572delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692040" }, { "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "C", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NR_146296.2:n.2535C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704340" }, { "@id": "http://reg.genome.network/allele/PA2825811435", "coordinates": [ { "allele": "T", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001136029.4:c.2419C>T" ], "proteinEffect": { "hgvs": "NP_001129501.1:p.Gln807Ter", "hgvsWellDefined": "NP_001129501.1:p.Gln807_Pro1594delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712481" }, { "@id": "http://reg.genome.network/allele/PA2828136996", "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "C", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001364318.2:c.2446C>T" ], "proteinEffect": { "hgvs": "NP_001351247.1:p.Gln816Ter", "hgvsWellDefined": "NP_001351247.1:p.Gln816_Pro1603delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720844" }, { "@id": "http://reg.genome.network/allele/PA2828137978", "coordinates": [ { "allele": "T", "end": 2418, "referenceAllele": "C", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001364319.2:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001351248.1:p.Gln738Ter", "hgvsWellDefined": "NP_001351248.1:p.Gln738_Pro1525delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysAspGlyAlaPhePheMetGluPheValArgSerProArgThrAlaSerSerAlaPheTyrProGlnValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720845" }, { "@id": "http://reg.genome.network/allele/PA2573071743", "coordinates": [ { "allele": "T", "end": 2652, "referenceAllele": "C", "start": 2651 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_001364320.2:c.2446C>T" ], "proteinEffect": { "hgvs": "NP_001351249.1:p.Gln816Ter", "hgvsWellDefined": "NP_001351249.1:p.Gln816_Pro1581delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720846" }, { "@id": "http://reg.genome.network/allele/PA2829766015", "coordinates": [ { "allele": "T", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NM_014662.6:c.2419C>T" ], "proteinEffect": { "hgvs": "NP_055477.1:p.Gln807Ter", "hgvsWellDefined": "NP_055477.1:p.Gln807_Pro1572delinsProLysThrGlnLysProAsnProAlaValProProProLeuSerSerSerProLeuTyrSerArgGlyLeuValSerArgAsnArgProGluGluGluAspGlnTyrTrpLeuSerMetGlyArgThrPheHisLysValThrLeuLysAspLysMetIleThrValThrArgTyrLeuProLysTyrProTyrGluSerAlaGlnIleHisTyrThrTyrSerLeuCysProSerHisSerAspSerGluPheValSerCysTrpValGluPheSerHisGluArgLeuGluGluTyrLysTrpAsnTyrLeuAspGlnTyrIleCysSerAlaGlySerGluAspPheSerLeuIleGluSerLeuLysPheTrpArgThrArgPheLeuLeuLeuProAlaCysValThrAlaThrLysArgIleThrGluGlyGluAlaHisCysAspIleTyrGlyAspArgProArgAlaAspGluAspGluTrpGlnLeuLeuAspGlyPheValArgPheValGluGlyLeuAsnArgIleArgArgArgHisArgSerAspArgMetMetArgLysGlyThrAlaMetLysGlyLeuGlnMetThrGlyProIleSerThrHisSerLeuGluSerThrAlaProProValGlyLysLysGlyThrSerAlaLeuSerAlaLeuLeuGluMetGluAlaSerGlnLysCysLeuGlyGluGlnGlnAlaAlaValHisGlyGlyLysSerSerAlaGlnSerAlaGluSerSerSerValAlaMetThrProThrTyrMetAspSerProArgLysValSerValAspGlnThrAlaThrProMetLeuAspGlyThrSerLeuGlyIleCysThrGlyGlnSerMetAspArgGlyAsnSerGlnThrPheGlyAsnSerGlnAsnIleGlyGluGlnGlyTyrSerSerThrAsnSerSerAspSerSerSerGlnGlnLeuValAlaSerSerLeuThrSerSerSerThrLeuThrGluIleLeuGluAlaMetLysHisProSerThrGlyValGlnLeuLeuSerGluGlnLysGlyLeuSerProTyrCysPheIleSerAlaGluValValHisTrpLeuValAsnHisValGluGlyIleGlnThrGlnAlaMetAlaIleAspIleMetGlnLysMetLeuGluGluGlnLeuIleThrHisAlaSerGlyGluAlaTrpArgThrPheIleTyrGlyPheTyrPheTyrLysIleValThrAspLysGluProAspArgValAlaMetGlnGlnProAlaThrThrTrpHisThrAlaGlyValAspAspPheAlaSerPheGlnArgLysTrpPheGluValAlaPheValAlaGluGluLeuValHisSerGluIleProAlaPheLeuLeuProTrpLeuProSerArgProAlaSerTyrAlaSerArgHisSerSerPheSerArgSerPheGlyGlyArgSerGlnAlaAlaAlaLeuLeuAlaAlaThrValProGluGlnArgThrValThrLeuAspValAspValAsnAsnArgThrAspArgLeuGluTrpCysSerCysTyrTyrHisGlyAsnPheSerLeuAsnAlaAlaPheGluIleLysLeuHisTrpMetAlaValThrAlaAlaValLeuPheGluMetValGlnGlyTrpHisArgLysAlaThrSerCysGlyPheLeuLeuValProValLeuGluGlyProPheAlaLeuProSerTyrLeuTyrGlyAspProLeuArgAlaGlnLeuPheIleProLeuAsnIleSerCysLeuLeuLysGluGlySerGluHisLeuPheAspSerPheGluProGluThrTyrTrpAspArgMetHisLeuPheGlnGluAlaIleAlaHisArgPheGlyPheValGlnAspLysTyrSerAlaSerAlaPheAsnPheProAlaGluAsnLysProGlnTyrIleHisValThrGlyThrValPheLeuGlnLeuProTyrSerLysArgLysPheSerGlyGlnGlnArgArgArgArgAsnSerThrSerSerThrAsnGlnAsnMetPheCysGluGluArgValGlyTyrAsnTrpAlaTyrAsnThrMetLeuThrLysThrTrpArgSerSerAlaThrGlyAspGluLysPheAlaAspArgLeuLeuLysAspPheThrAspPheCysIleAsnArgAspAsnArgLeuValThrPheTrpThrSerCysLeuGluLysMetHisAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727987" }, { "coordinates": [ { "allele": "T", "end": 2409, "referenceAllele": "C", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NR_157125.2:n.2409C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731561" }, { "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "C", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN018423", "geneNCBI_id": 9681, "geneSymbol": "DEPDC5", "hgvs": [ "NR_157126.2:n.2535C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731562" } ], "type": "nucleotide" }