{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA211025", "communityStandardTitle": [ "NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3732876", "active": true, "id": "COSM3732876" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3732877", "active": true, "id": "COSM3732877" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169154[alleleid]", "alleleId": 169154, "preferredName": "NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158240", "RCV": [ "RCV000145609", "RCV000286958", "RCV000515277", "RCV000490391", "RCV004019767" ], "variationId": 158240 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-49059645-A-C", "id": "15-49059645-A-C", "variant": "15:49059645 A / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.49059645A>C?assembly=hg19", "id": "chr15:g.49059645A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.48767448A>C?assembly=hg38", "id": "chr15:g.48767448A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/182018947", "rs": 182018947 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-49059645-A-C?dataset=gnomad_r2_1", "id": "15-49059645-A-C", "variant": "15:49059645 A / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-48767448-A-C?dataset=gnomad_r3", "id": "15-48767448-A-C", "variant": "15:48767448 A / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-48767448-A-C?dataset=gnomad_r4", "id": "15-48767448-A-C", "variant": "15:48767448 A / C" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 48767448, "referenceAllele": "A", "start": 48767447 } ], "hgvs": [ "NC_000015.10:g.48767448A>C", "CM000677.2:g.48767448A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 49059645, "referenceAllele": "A", "start": 49059644 } ], "hgvs": [ "NC_000015.9:g.49059645A>C", "CM000677.1:g.49059645A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 46846937, "referenceAllele": "A", "start": 46846936 } ], "hgvs": [ "NC_000015.8:g.46846937A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "G", "end": 48699, "referenceAllele": "T", "start": 48698 } ], "hgvs": [ "NG_027518.1:g.48699T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003881" }, { "coordinates": [ { "allele": "G", "end": 48699, "referenceAllele": "T", "start": 48698 } ], "hgvs": [ "NG_027518.2:g.48699T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS673739" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2150, "referenceAllele": "T", "start": 2149 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "ENST00000380950.7:c.2034T>G" ], "proteinEffect": { "hgvs": "ENSP00000370337.2:p.Tyr678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS752464", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380950.7:c.2034T>G" }, "RefSeq": { "hgvs": "NM_001194998.2:c.2034T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370337.2:p.Tyr678Ter" }, "RefSeq": { "hgvs": "NP_001181927.1:p.Tyr678Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1832, "referenceAllele": "T", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "ENST00000325747.9:c.1755T>G" ], "proteinEffect": { "hgvs": "ENSP00000321000.5:p.Tyr585Ter", "hgvsWellDefined": "ENSP00000321000.5:p.Tyr585_Lys1275delinsGlnGlnHisHisGluAlaMetLysThrGlnIleArgGluSerLeuLeuAlaLysHisAlaLeuGluLysGlnGlnLeuPheGluAlaTyrGluArgThrHisLeuGlnLeuArgSerGluLeuAspLysLeuAsnLysGluValThrAlaValGlnGluCysTyrLeuGluValCysArgGluLysAspAsnLeuGluLeuThrLeuArgLysThrThrGluLysGluGlnGlnThrGlnGluLysIleLysGluLysLeuIleGlnGlnLeuGluLysGluTrpGlnSerLysLeuAspGlnThrIleLysAlaMetLysLysLysThrLeuAspCysGlySerGlnThrAspGlnValThrThrSerAspValIleSerLysLysGluMetAlaIleMetIleGluGluGlnLysCysThrIleGlnGlnAsnLeuGluGlnGluLysAspIleAlaIleLysGlyAlaMetLysLysLeuGluIleGluLeuGluLeuLysHisCysGluAsnIleThrLysGlnValGluIleAlaValGlnAsnAlaHisGlnArgTrpLeuGlyGluLeuProGluLeuAlaGluTyrGlnAlaLeuValLysAlaGluGlnLysLysTrpGluGluGlnHisGluValSerValAsnLysArgIleSerPheAlaValSerGluAlaLysGluLysTrpLysSerGluLeuGluAsnMetArgLysAsnIleLeuProGlyLysGluLeuGluGluLysIleHisSerLeuGlnLysGluLeuGluLeuLysAsnGluGluValProValValIleArgAlaGluLeuAlaLysAlaArgSerGluTrpAsnLysGluLysGlnGluGluIleHisArgIleGlnGluGlnAsnGluGlnAspTyrArgGlnPheLeuAspAspHisArgAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerGlyMetSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258523" }, { "coordinates": [ { "allele": "G", "end": 2222, "referenceAllele": "T", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "ENST00000380950.6:c.2034T>G" ], "proteinEffect": { "hgvs": "ENSP00000370337.2:p.Tyr678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS273157" }, { "coordinates": [ { "allele": "G", "end": 2068, "referenceAllele": "T", "start": 2067 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "ENST00000399334.7:c.2034T>G" ], "proteinEffect": { "hgvs": "ENSP00000382271.3:p.Tyr678Ter", "hgvsWellDefined": "ENSP00000382271.3:p.Tyr678_Asp1654delinsGlnGlnHisHisGluAlaMetLysThrGlnIleArgGluSerLeuLeuAlaLysHisAlaLeuGluLysGlnGlnLeuPheGluAlaTyrGluArgThrHisLeuGlnLeuArgSerGluLeuAspLysLeuAsnLysGluValThrAlaValGlnGluCysTyrLeuGluValCysArgGluLysAspAsnLeuGluLeuThrLeuArgLysThrThrGluLysGluGlnGlnThrGlnGluLysIleLysGluLysLeuIleGlnGlnLeuGluLysGluTrpGlnSerLysLeuAspGlnThrIleLysAlaMetLysLysLysThrLeuAspCysGlySerGlnThrAspGlnValThrThrSerAspValIleSerLysLysGluMetAlaIleMetIleGluGluGlnLysCysThrIleGlnGlnAsnLeuGluGlnGluLysAspIleAlaIleLysGlyAlaMetLysLysLeuGluIleGluLeuGluLeuLysHisCysGluAsnIleThrLysGlnValGluIleAlaValGlnAsnAlaHisGlnArgTrpLeuGlyGluLeuProGluLeuAlaGluTyrGlnAlaLeuValLysAlaGluGlnLysLysTrpGluGluGlnHisGluValSerValAsnLysArgIleSerPheAlaValSerGluAlaLysGluLysTrpLysSerGluLeuGluAsnMetArgLysAsnIleLeuProGlyLysGluLeuGluGluLysIleHisSerLeuGlnLysGluLeuGluLeuLysAsnGluGluValProValValIleArgAlaGluLeuAlaLysAlaArgSerGluTrpAsnLysGluLysGlnGluGluIleHisArgIleGlnGluGlnAsnGluGlnAspTyrArgGlnPheLeuAspAspHisArgAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278640" }, { "coordinates": [ { "allele": "G", "end": 2227, "referenceAllele": "T", "start": 2226 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "NM_001194998.1:c.2034T>G" ], "proteinEffect": { "hgvs": "NP_001181927.1:p.Tyr678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS016492" }, { "@id": "http://reg.genome.network/allele/PA211027", "coordinates": [ { "allele": "G", "end": 2227, "referenceAllele": "T", "start": 2226 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "NM_014985.3:c.2034T>G" ], "proteinEffect": { "hgvs": "NP_055800.2:p.Tyr678Ter", "hgvsWellDefined": "NP_055800.2:p.Tyr678_Asp1654delinsGlnGlnHisHisGluAlaMetLysThrGlnIleArgGluSerLeuLeuAlaLysHisAlaLeuGluLysGlnGlnLeuPheGluAlaTyrGluArgThrHisLeuGlnLeuArgSerGluLeuAspLysLeuAsnLysGluValThrAlaValGlnGluCysTyrLeuGluValCysArgGluLysAspAsnLeuGluLeuThrLeuArgLysThrThrGluLysGluGlnGlnThrGlnGluLysIleLysGluLysLeuIleGlnGlnLeuGluLysGluTrpGlnSerLysLeuAspGlnThrIleLysAlaMetLysLysLysThrLeuAspCysGlySerGlnThrAspGlnValThrThrSerAspValIleSerLysLysGluMetAlaIleMetIleGluGluGlnLysCysThrIleGlnGlnAsnLeuGluGlnGluLysAspIleAlaIleLysGlyAlaMetLysLysLeuGluIleGluLeuGluLeuLysHisCysGluAsnIleThrLysGlnValGluIleAlaValGlnAsnAlaHisGlnArgTrpLeuGlyGluLeuProGluLeuAlaGluTyrGlnAlaLeuValLysAlaGluGlnLysLysTrpGluGluGlnHisGluValSerValAsnLysArgIleSerPheAlaValSerGluAlaLysGluLysTrpLysSerGluLeuGluAsnMetArgLysAsnIleLeuProGlyLysGluLeuGluGluLysIleHisSerLeuGlnLysGluLeuGluLeuLysAsnGluGluValProValValIleArgAlaGluLeuAlaLysAlaArgSerGluTrpAsnLysGluLysGlnGluGluIleHisArgIleGlnGluGlnAsnGluGlnAspTyrArgGlnPheLeuAspAspHisArgAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033649" }, { "coordinates": [ { "allele": "G", "end": 2412, "referenceAllele": "T", "start": 2411 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_006720437.2:c.2034T>G" ], "proteinEffect": { "hgvs": "XP_006720500.1:p.Tyr678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS073659" }, { "coordinates": [ { "allele": "G", "end": 2999, "referenceAllele": "T", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521373.1:c.2034T>G" ], "proteinEffect": { "hgvs": "XP_011519675.1:p.Tyr678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS088534" }, { "coordinates": [ { "allele": "G", "end": 2999, "referenceAllele": "T", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521374.1:c.2034T>G" ], "proteinEffect": { "hgvs": "XP_011519676.1:p.Tyr678Ter", "hgvsWellDefined": "XP_011519676.1:p.Tyr678_Ser1401delinsGlnGlnHisHisGluAlaMetLysThrGlnIleArgGluSerLeuLeuAlaLysHisAlaLeuGluLysGlnGlnLeuPheGluAlaTyrGluArgThrHisLeuGlnLeuArgSerGluLeuAspLysLeuAsnLysGluValThrAlaValGlnGluCysTyrLeuGluValCysArgGluLysAspAsnLeuGluLeuThrLeuArgLysThrThrGluLysGluGlnGlnThrGlnGluLysIleLysGluLysLeuIleGlnGlnLeuGluLysGluTrpGlnSerLysLeuAspGlnThrIleLysAlaMetLysLysLysThrLeuAspCysGlySerGlnThrAspGlnValThrThrSerAspValIleSerLysLysGluMetAlaIleMetIleGluGluGlnLysCysThrIleGlnGlnAsnLeuGluGlnGluLysAspIleAlaIleLysGlyAlaMetLysLysLeuGluIleGluLeuGluLeuLysHisCysGluAsnIleThrLysGlnValGluIleAlaValGlnAsnAlaHisGlnArgTrpLeuGlyGluLeuProGluLeuAlaGluTyrGlnAlaLeuValLysAlaGluGlnLysLysTrpGluGluGlnHisGluValSerValAsnLysArgIleSerPheAlaValSerGluAlaLysGluLysTrpLysSerGluLeuGluAsnMetArgLysAsnIleLeuProGlyLysGluLeuGluGluLysIleHisSerLeuGlnLysGluLeuGluLeuLysAsnGluGluValProValValIleArgAlaGluLeuAlaLysAlaArgSerGluTrpAsnLysGluLysGlnGluGluIleHisArgIleGlnGluGlnAsnGluGlnAspTyrArgGlnPheLeuAspAspHisArgAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerGlyAspGlyIleLeuLeuCysHisProGlyTrpArgAlaValAlaGlnIleThrAlaThrGluProArgLeuGlnLeuLeuGlySerAsnAspProProArgSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088535" }, { "coordinates": [ { "allele": "G", "end": 2999, "referenceAllele": "T", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521375.1:c.2034T>G" ], "proteinEffect": { "hgvs": "XP_011519677.1:p.Tyr678Ter", "hgvsWellDefined": "XP_011519677.1:p.Tyr678_Ser1397delinsGlnGlnHisHisGluAlaMetLysThrGlnIleArgGluSerLeuLeuAlaLysHisAlaLeuGluLysGlnGlnLeuPheGluAlaTyrGluArgThrHisLeuGlnLeuArgSerGluLeuAspLysLeuAsnLysGluValThrAlaValGlnGluCysTyrLeuGluValCysArgGluLysAspAsnLeuGluLeuThrLeuArgLysThrThrGluLysGluGlnGlnThrGlnGluLysIleLysGluLysLeuIleGlnGlnLeuGluLysGluTrpGlnSerLysLeuAspGlnThrIleLysAlaMetLysLysLysThrLeuAspCysGlySerGlnThrAspGlnValThrThrSerAspValIleSerLysLysGluMetAlaIleMetIleGluGluGlnLysCysThrIleGlnGlnAsnLeuGluGlnGluLysAspIleAlaIleLysGlyAlaMetLysLysLeuGluIleGluLeuGluLeuLysHisCysGluAsnIleThrLysGlnValGluIleAlaValGlnAsnAlaHisGlnArgTrpLeuGlyGluLeuProGluLeuAlaGluTyrGlnAlaLeuValLysAlaGluGlnLysLysTrpGluGluGlnHisGluValSerValAsnLysArgIleSerPheAlaValSerGluAlaLysGluLysTrpLysSerGluLeuGluAsnMetArgLysAsnIleLeuProGlyLysGluLeuGluGluLysIleHisSerLeuGlnLysGluLeuGluLeuLysAsnGluGluValProValValIleArgAlaGluLeuAlaLysAlaArgSerGluTrpAsnLysGluLysGlnGluGluIleHisArgIleGlnGluGlnAsnGluGlnAspTyrArgGlnPheLeuAspAspHisArgAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerLysProAspAsnLeuGlyGlyAspGlyGluThrAlaArgCysIleLeuLeuLeuLeuIleThrIleSerLysSerLysAsnArgGluGlyLysLeuPheGlyLeuGlyLysLeuCysHisLeuAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088536" }, { "coordinates": [ { "allele": "G", "end": 2999, "referenceAllele": "T", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521376.1:c.2034T>G" ], "proteinEffect": { "hgvs": "XP_011519678.1:p.Tyr678Ter", "hgvsWellDefined": "XP_011519678.1:p.Tyr678_Ser1391delinsGlnGlnHisHisGluAlaMetLysThrGlnIleArgGluSerLeuLeuAlaLysHisAlaLeuGluLysGlnGlnLeuPheGluAlaTyrGluArgThrHisLeuGlnLeuArgSerGluLeuAspLysLeuAsnLysGluValThrAlaValGlnGluCysTyrLeuGluValCysArgGluLysAspAsnLeuGluLeuThrLeuArgLysThrThrGluLysGluGlnGlnThrGlnGluLysIleLysGluLysLeuIleGlnGlnLeuGluLysGluTrpGlnSerLysLeuAspGlnThrIleLysAlaMetLysLysLysThrLeuAspCysGlySerGlnThrAspGlnValThrThrSerAspValIleSerLysLysGluMetAlaIleMetIleGluGluGlnLysCysThrIleGlnGlnAsnLeuGluGlnGluLysAspIleAlaIleLysGlyAlaMetLysLysLeuGluIleGluLeuGluLeuLysHisCysGluAsnIleThrLysGlnValGluIleAlaValGlnAsnAlaHisGlnArgTrpLeuGlyGluLeuProGluLeuAlaGluTyrGlnAlaLeuValLysAlaGluGlnLysLysTrpGluGluGlnHisGluValSerValAsnLysArgIleSerPheAlaValSerGluAlaLysGluLysTrpLysSerGluLeuGluAsnMetArgLysAsnIleLeuProGlyLysGluLeuGluGluLysIleHisSerLeuGlnLysGluLeuGluLeuLysAsnGluGluValProValValIleArgAlaGluLeuAlaLysAlaArgSerGluTrpAsnLysGluLysGlnGluGluIleHisArgIleGlnGluGlnAsnGluGlnAspTyrArgGlnPheLeuAspAspHisArgAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerArgAspGlyIleLeuLeuCysHisProGlyTrpArgAlaValAlaGlnIleThrAlaThrGluProArgLeuGlnLeuLeuGlySerAsnAspProProArgSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088537" }, { "coordinates": [ { "allele": "G", "end": 2999, "referenceAllele": "T", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521377.1:c.2034T>G" ], "proteinEffect": { "hgvs": "XP_011519679.1:p.Tyr678Ter", "hgvsWellDefined": "XP_011519679.1:p.Tyr678_Gly1373delinsGlnGlnHisHisGluAlaMetLysThrGlnIleArgGluSerLeuLeuAlaLysHisAlaLeuGluLysGlnGlnLeuPheGluAlaTyrGluArgThrHisLeuGlnLeuArgSerGluLeuAspLysLeuAsnLysGluValThrAlaValGlnGluCysTyrLeuGluValCysArgGluLysAspAsnLeuGluLeuThrLeuArgLysThrThrGluLysGluGlnGlnThrGlnGluLysIleLysGluLysLeuIleGlnGlnLeuGluLysGluTrpGlnSerLysLeuAspGlnThrIleLysAlaMetLysLysLysThrLeuAspCysGlySerGlnThrAspGlnValThrThrSerAspValIleSerLysLysGluMetAlaIleMetIleGluGluGlnLysCysThrIleGlnGlnAsnLeuGluGlnGluLysAspIleAlaIleLysGlyAlaMetLysLysLeuGluIleGluLeuGluLeuLysHisCysGluAsnIleThrLysGlnValGluIleAlaValGlnAsnAlaHisGlnArgTrpLeuGlyGluLeuProGluLeuAlaGluTyrGlnAlaLeuValLysAlaGluGlnLysLysTrpGluGluGlnHisGluValSerValAsnLysArgIleSerPheAlaValSerGluAlaLysGluLysTrpLysSerGluLeuGluAsnMetArgLysAsnIleLeuProGlyLysGluLeuGluGluLysIleHisSerLeuGlnLysGluLeuGluLeuLysAsnGluGluValProValValIleArgAlaGluLeuAlaLysAlaArgSerGluTrpAsnLysGluLysGlnGluGluIleHisArgIleGlnGluGlnAsnGluGlnAspTyrArgGlnPheLeuAspAspHisArgAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerThrGlyGlnGlnGlnGlnGluGlnArgIleTrpGluGlnGlySerAlaProGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088538" }, { "coordinates": [ { "allele": "G", "end": 2999, "referenceAllele": "T", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521378.1:c.2034T>G" ], "proteinEffect": { "hgvs": "XP_011519680.1:p.Tyr678Ter", "hgvsWellDefined": "XP_011519680.1:p.Tyr678_Ser1362delinsGlnGlnHisHisGluAlaMetLysThrGlnIleArgGluSerLeuLeuAlaLysHisAlaLeuGluLysGlnGlnLeuPheGluAlaTyrGluArgThrHisLeuGlnLeuArgSerGluLeuAspLysLeuAsnLysGluValThrAlaValGlnGluCysTyrLeuGluValCysArgGluLysAspAsnLeuGluLeuThrLeuArgLysThrThrGluLysGluGlnGlnThrGlnGluLysIleLysGluLysLeuIleGlnGlnLeuGluLysGluTrpGlnSerLysLeuAspGlnThrIleLysAlaMetLysLysLysThrLeuAspCysGlySerGlnThrAspGlnValThrThrSerAspValIleSerLysLysGluMetAlaIleMetIleGluGluGlnLysCysThrIleGlnGlnAsnLeuGluGlnGluLysAspIleAlaIleLysGlyAlaMetLysLysLeuGluIleGluLeuGluLeuLysHisCysGluAsnIleThrLysGlnValGluIleAlaValGlnAsnAlaHisGlnArgTrpLeuGlyGluLeuProGluLeuAlaGluTyrGlnAlaLeuValLysAlaGluGlnLysLysTrpGluGluGlnHisGluValSerValAsnLysArgIleSerPheAlaValSerGluAlaLysGluLysTrpLysSerGluLeuGluAsnMetArgLysAsnIleLeuProGlyLysGluLeuGluGluLysIleHisSerLeuGlnLysGluLeuGluLeuLysAsnGluGluValProValValIleArgAlaGluLeuAlaLysAlaArgSerGluTrpAsnLysGluLysGlnGluGluIleHisArgIleGlnGluGlnAsnGluGlnAspTyrArgGlnPheLeuAspAspHisArgAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerAsnLeuCysCysSerProSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088539" }, { "coordinates": [ { "allele": "G", "end": 2999, "referenceAllele": "T", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521379.1:c.2034T>G" ], "proteinEffect": { "hgvs": "XP_011519681.1:p.Tyr678Ter", "hgvsWellDefined": "XP_011519681.1:p.Tyr678_Ser1341delinsGlnGlnHisHisGluAlaMetLysThrGlnIleArgGluSerLeuLeuAlaLysHisAlaLeuGluLysGlnGlnLeuPheGluAlaTyrGluArgThrHisLeuGlnLeuArgSerGluLeuAspLysLeuAsnLysGluValThrAlaValGlnGluCysTyrLeuGluValCysArgGluLysAspAsnLeuGluLeuThrLeuArgLysThrThrGluLysGluGlnGlnThrGlnGluLysIleLysGluLysLeuIleGlnGlnLeuGluLysGluTrpGlnSerLysLeuAspGlnThrIleLysAlaMetLysLysLysThrLeuAspCysGlySerGlnThrAspGlnValThrThrSerAspValIleSerLysLysGluMetAlaIleMetIleGluGluGlnLysCysThrIleGlnGlnAsnLeuGluGlnGluLysAspIleAlaIleLysGlyAlaMetLysLysLeuGluIleGluLeuGluLeuLysHisCysGluAsnIleThrLysGlnValGluIleAlaValGlnAsnAlaHisGlnArgTrpLeuGlyGluLeuProGluLeuAlaGluTyrGlnAlaLeuValLysAlaGluGlnLysLysTrpGluGluGlnHisGluValSerValAsnLysArgIleSerPheAlaValSerGluAlaLysGluLysTrpLysSerGluLeuGluAsnMetArgLysAsnIleLeuProGlyLysGluLeuGluGluLysIleHisSerLeuGlnLysGluLeuGluLeuLysAsnGluGluValProValValIleArgAlaGluLeuAlaLysAlaArgSerGluTrpAsnLysGluLysGlnGluGluIleHisArgIleGlnGluGlnAsnGluGlnAspTyrArgGlnPheLeuAspAspHisArgAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyThrAlaProAsnPheArgAspAlaAspCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088540" }, { "coordinates": [ { "allele": "G", "end": 124, "referenceAllele": "T", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521380.1:c.75T>G" ], "proteinEffect": { "hgvs": "XP_011519682.1:p.Tyr25Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS088541" }, { "coordinates": [ { "allele": "G", "end": 1125, "referenceAllele": "T", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521381.1:c.69T>G" ], "proteinEffect": { "hgvs": "XP_011519683.1:p.Tyr23Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS088542" }, { "coordinates": [ { "allele": "G", "end": 2999, "referenceAllele": "T", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931769.1:n.2999T>G" ], 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], "proteinEffect": { "hgvs": "XP_016877505.1:p.Tyr678Ter", "hgvsWellDefined": "XP_016877505.1:p.Tyr678_Phe834delinsGlnGlnHisHisGluAlaMetLysThrGlnIleArgGluSerLeuLeuAlaLysHisAlaLeuGluLysGlnGlnLeuPheGluAlaTyrGluArgThrHisLeuGlnLeuArgSerGluLeuAspLysLeuAsnLysGluValThrAlaValGlnGluCysTyrLeuGluValCysArgGluLysAspAsnLeuGluLeuThrLeuArgLysThrThrGluLysGluGlnGlnThrGlnGluLysArgGlnLeuLeuGluGluArgGluGluTyrValSerLysLeuGlnValGluLeuGluLysLysTyrGlnAspThrLeuMetMetGluLysSerLysTrpLeuLysAspGlnGluThrAspIleLysGlnGlnValGluSerGluValIleLeuAlaLysAlaHisTrpAspLysGluGluGlnGluValTrpIleLysIleSerPheTrpSerProHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573073" }, { "coordinates": [ { "allele": "G", "end": 2985, "referenceAllele": "T", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_024449875.1:c.2034T>G" ], "proteinEffect": { "hgvs": "XP_024305643.1:p.Tyr678Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS583417" }, { "coordinates": [ { "allele": "G", "end": 2985, "referenceAllele": "T", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_001751153.2:n.2985T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS598153" }, { "coordinates": [ { "allele": "G", "end": 2985, "referenceAllele": "T", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931769.3:n.2985T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS610012" }, { "coordinates": [ { "allele": "G", "end": 2985, "referenceAllele": "T", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931770.3:n.2985T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS610013" }, { "coordinates": [ { "allele": "G", "end": 2985, "referenceAllele": "T", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931775.3:n.2985T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS610014" }, { "coordinates": [ { "allele": "G", "end": 2150, "referenceAllele": "T", "start": 2149 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "NM_001194998.2:c.2034T>G" ], "proteinEffect": { "hgvs": "NP_001181927.1:p.Tyr678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS663960", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380950.7:c.2034T>G" }, "RefSeq": { "hgvs": "NM_001194998.2:c.2034T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370337.2:p.Tyr678Ter" }, "RefSeq": { "hgvs": "NP_001181927.1:p.Tyr678Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA211027", "coordinates": [ { "allele": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS697410" } ], "type": "nucleotide" }