{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA210938", "communityStandardTitle": [ "NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15095[alleleid]", "alleleId": 15095, "preferredName": "NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56", "RCV": [ "RCV000000073", "RCV003390627" ], "variationId": 56 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-49048486-G-A", "id": "15-49048486-G-A", "variant": "15:49048486 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.49048486G>A?assembly=hg19", "id": "chr15:g.49048486G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.48756289G>A?assembly=hg38", "id": "chr15:g.48756289G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267606718", "rs": 267606718 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-49048486-G-A?dataset=gnomad_r2_1", "id": "15-49048486-G-A", "variant": "15:49048486 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-48756289-G-A?dataset=gnomad_r3", "id": "15-48756289-G-A", "variant": "15:48756289 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-48756289-G-A?dataset=gnomad_r4", "id": "15-48756289-G-A", "variant": "15:48756289 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 48756289, "referenceAllele": "G", "start": 48756288 } ], "hgvs": [ "NC_000015.10:g.48756289G>A", "CM000677.2:g.48756289G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 49048486, "referenceAllele": "G", "start": 49048485 } ], "hgvs": [ "NC_000015.9:g.49048486G>A", "CM000677.1:g.49048486G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 46835778, "referenceAllele": "G", "start": 46835777 } ], "hgvs": [ "NC_000015.8:g.46835778G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 59858, "referenceAllele": "C", "start": 59857 } ], "hgvs": [ "NG_027518.1:g.59858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003881" }, { "coordinates": [ { "allele": "T", "end": 59858, "referenceAllele": "C", "start": 59857 } ], "hgvs": [ "NG_027518.2:g.59858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673739" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3075, "referenceAllele": "C", "start": 3074 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "ENST00000380950.7:c.2959C>T" ], "proteinEffect": { "hgvs": "ENSP00000370337.2:p.Arg987Ter", "hgvsWellDefined": "ENSP00000370337.2:p.Arg987_Asp1710delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752464", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380950.7:c.2959C>T" }, "RefSeq": { "hgvs": "NM_001194998.2:c.2959C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370337.2:p.Arg987Ter" }, "RefSeq": { "hgvs": "NP_001181927.1:p.Arg987Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2757, "referenceAllele": "C", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "ENST00000325747.9:c.2680C>T" ], "proteinEffect": { "hgvs": "ENSP00000321000.5:p.Arg894Ter", "hgvsWellDefined": "ENSP00000321000.5:p.Arg894_Lys1275delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerGlyMetSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258523" }, { "coordinates": [ { "allele": "T", "end": 3147, "referenceAllele": "C", "start": 3146 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "ENST00000380950.6:c.2959C>T" ], "proteinEffect": { "hgvs": "ENSP00000370337.2:p.Arg987Ter", "hgvsWellDefined": "ENSP00000370337.2:p.Arg987_Asp1710delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273157" }, { "coordinates": [ { "allele": "T", "end": 2993, "referenceAllele": "C", "start": 2992 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "ENST00000399334.7:c.2959C>T" ], "proteinEffect": { "hgvs": "ENSP00000382271.3:p.Arg987Ter", "hgvsWellDefined": "ENSP00000382271.3:p.Arg987_Asp1654delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278640" }, { "@id": "http://reg.genome.network/allele/PA210939", "coordinates": [ { "allele": "T", "end": 3152, "referenceAllele": "C", "start": 3151 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "NM_001194998.1:c.2959C>T" ], "proteinEffect": { "hgvs": "NP_001181927.1:p.Arg987Ter", "hgvsWellDefined": "NP_001181927.1:p.Arg987_Asp1710delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016492" }, { "@id": "http://reg.genome.network/allele/PA915972000", "coordinates": [ { "allele": "T", "end": 3152, "referenceAllele": "C", "start": 3151 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "NM_014985.3:c.2959C>T" ], "proteinEffect": { "hgvs": "NP_055800.2:p.Arg987Ter", "hgvsWellDefined": "NP_055800.2:p.Arg987_Asp1654delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033649" }, { "coordinates": [ { "allele": "T", "end": 3337, "referenceAllele": "C", "start": 3336 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_006720437.2:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_006720500.1:p.Arg987Ter", "hgvsWellDefined": "XP_006720500.1:p.Arg987_Asp1710delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073659" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521373.1:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011519675.1:p.Arg987Ter", "hgvsWellDefined": "XP_011519675.1:p.Arg987_Asp1700delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerThrLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088534" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521374.1:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011519676.1:p.Arg987Ter", "hgvsWellDefined": "XP_011519676.1:p.Arg987_Ser1401delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerGlyAspGlyIleLeuLeuCysHisProGlyTrpArgAlaValAlaGlnIleThrAlaThrGluProArgLeuGlnLeuLeuGlySerAsnAspProProArgSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088535" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521375.1:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011519677.1:p.Arg987Ter", "hgvsWellDefined": "XP_011519677.1:p.Arg987_Ser1397delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerLysProAspAsnLeuGlyGlyAspGlyGluThrAlaArgCysIleLeuLeuLeuLeuIleThrIleSerLysSerLysAsnArgGluGlyLysLeuPheGlyLeuGlyLysLeuCysHisLeuAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088536" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521376.1:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011519678.1:p.Arg987Ter", "hgvsWellDefined": "XP_011519678.1:p.Arg987_Ser1391delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerArgAspGlyIleLeuLeuCysHisProGlyTrpArgAlaValAlaGlnIleThrAlaThrGluProArgLeuGlnLeuLeuGlySerAsnAspProProArgSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088537" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521377.1:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011519679.1:p.Arg987Ter", "hgvsWellDefined": "XP_011519679.1:p.Arg987_Gly1373delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerThrGlyGlnGlnGlnGlnGluGlnArgIleTrpGluGlnGlySerAlaProGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088538" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521378.1:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011519680.1:p.Arg987Ter", "hgvsWellDefined": "XP_011519680.1:p.Arg987_Ser1362delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerAsnLeuCysCysSerProSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088539" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521379.1:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011519681.1:p.Arg987Ter", "hgvsWellDefined": "XP_011519681.1:p.Arg987_Ser1341delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyThrAlaProAsnPheArgAspAlaAspCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088540" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521380.1:c.1000C>T" ], "proteinEffect": { "hgvs": "XP_011519682.1:p.Arg334Ter", "hgvsWellDefined": "XP_011519682.1:p.Arg334_Asp1057delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088541" }, { "coordinates": [ { "allele": "T", "end": 2050, "referenceAllele": "C", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521381.1:c.994C>T" ], "proteinEffect": { "hgvs": "XP_011519683.1:p.Arg332Ter", "hgvsWellDefined": "XP_011519683.1:p.Arg332_Asp1055delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088542" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931769.1:n.3924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127858" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931770.1:n.3924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127859" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931771.1:n.3924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127860" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931772.1:n.3924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127861" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931773.1:n.3924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127862" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931774.1:n.3924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127863" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "C", "start": 3923 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931775.1:n.3924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127864" }, { "coordinates": [ { "allele": "T", "end": 3337, "referenceAllele": "C", "start": 3336 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_006720437.3:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_006720500.1:p.Arg987Ter", "hgvsWellDefined": "XP_006720500.1:p.Arg987_Asp1710delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540092" }, { "coordinates": [ { "allele": "T", "end": 3910, "referenceAllele": "C", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521373.3:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011519675.1:p.Arg987Ter", "hgvsWellDefined": "XP_011519675.1:p.Arg987_Asp1700delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerThrLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546117" }, { "coordinates": [ { "allele": "T", "end": 3910, "referenceAllele": "C", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521374.3:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011519676.1:p.Arg987Ter", "hgvsWellDefined": "XP_011519676.1:p.Arg987_Ser1401delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerGlyAspGlyIleLeuLeuCysHisProGlyTrpArgAlaValAlaGlnIleThrAlaThrGluProArgLeuGlnLeuLeuGlySerAsnAspProProArgSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546118" }, { "coordinates": [ { "allele": "T", "end": 3910, "referenceAllele": "C", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521375.3:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011519677.1:p.Arg987Ter", "hgvsWellDefined": "XP_011519677.1:p.Arg987_Ser1397delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerLysProAspAsnLeuGlyGlyAspGlyGluThrAlaArgCysIleLeuLeuLeuLeuIleThrIleSerLysSerLysAsnArgGluGlyLysLeuPheGlyLeuGlyLysLeuCysHisLeuAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546119" }, { "coordinates": [ { "allele": "T", "end": 3910, "referenceAllele": "C", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521378.3:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011519680.1:p.Arg987Ter", "hgvsWellDefined": "XP_011519680.1:p.Arg987_Ser1362delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerAsnLeuCysCysSerProSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546120" }, { "coordinates": [ { "allele": "T", "end": 3910, "referenceAllele": "C", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521379.3:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011519681.1:p.Arg987Ter", "hgvsWellDefined": "XP_011519681.1:p.Arg987_Ser1341delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyThrAlaProAsnPheArgAspAlaAspCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546121" }, { "coordinates": [ { "allele": "T", "end": 2065, "referenceAllele": "C", "start": 2064 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_011521381.2:c.994C>T" ], "proteinEffect": { "hgvs": "XP_011519683.1:p.Arg332Ter", "hgvsWellDefined": "XP_011519683.1:p.Arg332_Asp1055delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546122" }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_017022015.1:c.994C>T" ], "proteinEffect": { "hgvs": "XP_016877504.1:p.Arg332Ter", "hgvsWellDefined": "XP_016877504.1:p.Arg332_Asp1055delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573072" }, { "coordinates": [ { "allele": "T", "end": 3910, "referenceAllele": "C", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XM_024449875.1:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_024305643.1:p.Arg987Ter", "hgvsWellDefined": "XP_024305643.1:p.Arg987_Asp1644delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerThrLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583417" }, { "coordinates": [ { "allele": "T", "end": 3910, "referenceAllele": "C", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_001751153.2:n.3910C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598153" }, { "coordinates": [ { "allele": "T", "end": 3910, "referenceAllele": "C", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931769.3:n.3910C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610012" }, { "coordinates": [ { "allele": "T", "end": 3910, "referenceAllele": "C", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931770.3:n.3910C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610013" }, { "coordinates": [ { "allele": "T", "end": 3910, "referenceAllele": "C", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "XR_931775.3:n.3910C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610014" }, { "@id": "http://reg.genome.network/allele/PA210939", "coordinates": [ { "allele": "T", "end": 3075, "referenceAllele": "C", "start": 3074 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "NM_001194998.2:c.2959C>T" ], "proteinEffect": { "hgvs": "NP_001181927.1:p.Arg987Ter", "hgvsWellDefined": "NP_001181927.1:p.Arg987_Asp1710delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaAspLysLysLysValLeuGluIleLysAspLeuCysCysGlyHisCysPheGlnGluLeuGluLysAlaLysGlnGluCysGlnAspLeuLysGlyLysLeuGluLysCysCysArgHisLeuGlnHisLeuGluArgLysHisLysAlaValValGluLysIleGlyGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663960", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380950.7:c.2959C>T" }, "RefSeq": { "hgvs": "NM_001194998.2:c.2959C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370337.2:p.Arg987Ter" }, "RefSeq": { "hgvs": "NP_001181927.1:p.Arg987Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915972000", "coordinates": [ { "allele": "T", "end": 3075, "referenceAllele": "C", "start": 3074 } ], "gene": "http://reg.genome.network/gene/GN029298", "geneNCBI_id": 22995, "geneSymbol": "CEP152", "hgvs": [ "NM_014985.4:c.2959C>T" ], "proteinEffect": { "hgvs": "NP_055800.2:p.Arg987Ter", "hgvsWellDefined": "NP_055800.2:p.Arg987_Asp1654delinsAsnLysIleAsnGluValLeuAlaAlaAlaLysGluAspPheMetLysGlnLysThrGluLeuLeuLeuGlnLysGluThrGluLeuGlnThrCysLeuAspGlnSerArgArgGluTrpThrMetGlnGluAlaLysArgIleGlnLeuGluIleTyrGlnTyrGluGluAspIleLeuThrValLeuGlyValLeuLeuSerAspThrGlnLysGluHisIleSerAspSerGluAspLysGlnLeuLeuGluIleMetSerThrCysSerSerLysTrpMetSerValGlnTyrPheGluLysLeuLysGlyCysIleGlnLysAlaPheGlnAspThrLeuProLeuLeuValGluAsnAlaAspProGluTrpLysLysArgAsnMetAlaGluLeuSerLysAspSerAlaSerGlnGlyThrGlyGlnGlyAspProGlyProAlaAlaGlyHisHisAlaGlnProLeuAlaLeuGlnAlaThrGluAlaGluAlaGluGluAsnAsnLysValValGluGluLeuIleGluGluAsnAsnAspMetLysAsnLysLeuGluGluLeuGlnThrLeuCysLysThrProProArgSerLeuSerAlaGlyAlaIleGluAsnAlaCysLeuProCysSerGlyGlyAlaLeuGluGluLeuArgGlyGlnTyrIleLysAlaValLysLysIleLysCysAspMetLeuArgTyrIleGlnGluSerLysGluArgAlaAlaGluMetValLysAlaGluValLeuArgGluArgGlnGluThrAlaArgLysMetArgLysTyrTyrLeuIleCysLeuGlnGlnIleLeuGlnAspAspGlyLysGluGlyAlaGluLysLysIleMetAsnAlaAlaSerLysLeuAlaThrMetAlaLysLeuLeuGluThrProIleSerSerLysSerGlnSerLysThrThrGlnSerAlaLeuProLeuThrSerGluMetLeuIleAlaValLysLysSerLysArgAsnAspValAsnGlnLysIleProCysCysIleGluSerLysSerAsnSerValAsnThrIleThrArgThrLeuCysGluGlnAlaProLysArgArgAlaAlaCysAsnLeuGlnArgLeuLeuGluAsnSerGluHisGlnSerIleLysHisValGlySerLysGluThrHisLeuGluPheGlnPheGlyAspGlySerCysLysHisLeuAsnSerLeuProArgAsnValSerProGluPheValProCysGluGlyGluGlyGlyPheGlyLeuHisLysLysLysAspLeuLeuSerAspAsnGlySerGluSerLeuProHisSerAlaAlaTyrProPheLeuGlyThrLeuGlyAsnLysProSerProArgCysThrProGlyProSerGluSerGlyCysMetHisIleThrPheArgAspSerAsnGluArgLeuGlyLeuLysValTyrLysCysAsnProLeuMetGluSerGluAsnAlaAlaSerGluLysSerGlnGlyLeuAspValGlnGluProProValLysAspGlyGlyAspLeuSerAspCysLeuGlyTrpProSerSerSerAlaThrLeuSerPheAspSerArgGluAlaSerPheValHisGlyArgProGlnGlyThrLeuGluIleProSerGluSerValLysSerLysGlnPheSerProSerGlyTyrLeuSerAspThrGluGluSerAsnMetIleCysGlnThrMetLysCysGlnArgTyrGlnThrProTyrLeuSerGluGluThrThrTyrLeuGluProGlyLysIleSerValAsnCysGlyHisProSerArgHisLysAlaAspArgLeuLysSerAspPheLysLysLeuSerSerThrLeuProSerSerValCysGlnGlnProSerArgLysLeuIleValProLeuSerSerGlnGlnAspSerGlyPheAspSerProPheValAsnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697410" } ], "type": "nucleotide" }