{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA130151", "communityStandardTitle": [ "NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45870[alleleid]", "alleleId": 45870, "preferredName": "NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37297", "RCV": [ "RCV000030836" ], "variationId": 37297 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.117252580C>T?assembly=hg19", "id": "chr11:g.117252580C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.117381864C>T?assembly=hg38", "id": "chr11:g.117381864C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387907311", "rs": 387907311 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 117381864, "referenceAllele": "C", "start": 117381863 } ], "hgvs": [ "NC_000011.10:g.117381864C>T", "CM000673.2:g.117381864C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 117252580, "referenceAllele": "C", "start": 117252579 } ], "hgvs": [ "NC_000011.9:g.117252580C>T", "CM000673.1:g.117252580C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 116757790, "referenceAllele": "C", "start": 116757789 } ], "hgvs": [ "NC_000011.8:g.116757790C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 65087, "referenceAllele": "C", "start": 65086 } ], "hgvs": [ "NG_033032.1:g.65087C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005366" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1721, "referenceAllele": "C", "start": 1720 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000278935.8:c.1573C>T" ], "proteinEffect": { "hgvs": "ENSP00000278935.3:p.Gln525Ter", "hgvsWellDefined": "ENSP00000278935.3:p.Gln525_Phe1460delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743512", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000278935.8:c.1573C>T" }, "RefSeq": { "hgvs": "NM_014956.5:c.1573C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000278935.3:p.Gln525Ter" }, "RefSeq": { "hgvs": "NP_055771.4:p.Gln525Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1720, "referenceAllele": "C", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000278935.7:c.1573C>T" ], "proteinEffect": { "hgvs": "ENSP00000278935.3:p.Gln525Ter", "hgvsWellDefined": "ENSP00000278935.3:p.Gln525_Phe1460delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252846" }, { "coordinates": [ { "allele": "T", "end": 1828, "referenceAllele": "C", "start": 1827 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000533675.5:n.1828C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358408" }, { "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000533706.5:n.897C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358435" }, { "@id": "http://reg.genome.network/allele/PA916005175", "coordinates": [ { "allele": "T", "end": 1663, "referenceAllele": "C", "start": 1662 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_001271933.1:c.1582C>T" ], "proteinEffect": { "hgvs": "NP_001258862.1:p.Gln528Ter", "hgvsWellDefined": "NP_001258862.1:p.Gln528_Phe1455delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020729" }, { "@id": "http://reg.genome.network/allele/PA130152", "coordinates": [ { "allele": "T", "end": 1720, "referenceAllele": "C", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_014956.4:c.1573C>T" ], "proteinEffect": { "hgvs": "NP_055771.4:p.Gln525Ter", "hgvsWellDefined": "NP_055771.4:p.Gln525_Phe1460delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033623" }, { "coordinates": [ { "allele": "T", "end": 3677, "referenceAllele": "C", "start": 3676 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_005271453.1:c.3259C>T" ], "proteinEffect": { "hgvs": "XP_005271510.1:p.Gln1087Ter", "hgvsWellDefined": "XP_005271510.1:p.Gln1087_Phe2022delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066883" }, { "coordinates": [ { "allele": "T", "end": 1991, "referenceAllele": "C", "start": 1990 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_005271456.1:c.1573C>T" ], "proteinEffect": { "hgvs": "XP_005271513.1:p.Gln525Ter", "hgvsWellDefined": "XP_005271513.1:p.Gln525_Phe1460delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066884" }, { "coordinates": [ { "allele": "T", "end": 2000, "referenceAllele": "C", "start": 1999 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_005271457.1:c.1582C>T" ], "proteinEffect": { "hgvs": "XP_005271514.1:p.Gln528Ter", "hgvsWellDefined": "XP_005271514.1:p.Gln528_Phe1455delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066885" }, { "coordinates": [ { "allele": "T", "end": 3686, "referenceAllele": "C", "start": 3685 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_006718788.1:c.3268C>T" ], "proteinEffect": { "hgvs": "XP_006718851.1:p.Gln1090Ter", "hgvsWellDefined": "XP_006718851.1:p.Gln1090_Phe2025delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072791" }, { "coordinates": [ { "allele": "T", "end": 1913, "referenceAllele": "C", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_006718794.1:c.1495C>T" ], "proteinEffect": { "hgvs": "XP_006718857.1:p.Gln499Ter", "hgvsWellDefined": "XP_006718857.1:p.Gln499_Phe1434delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072792" }, { "coordinates": [ { "allele": "T", "end": 3746, "referenceAllele": "C", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542670.1:c.3328C>T" ], "proteinEffect": { "hgvs": "XP_011540972.1:p.Gln1110Ter", "hgvsWellDefined": "XP_011540972.1:p.Gln1110_Phe2045delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109601" }, { "coordinates": [ { "allele": "T", "end": 3497, "referenceAllele": "C", "start": 3496 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542671.1:c.3328C>T" ], "proteinEffect": { "hgvs": "XP_011540973.1:p.Gln1110Ter", "hgvsWellDefined": "XP_011540973.1:p.Gln1110_Phe2045delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109602" }, { "coordinates": [ { "allele": "T", "end": 3674, "referenceAllele": "C", "start": 3673 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542672.1:c.3328C>T" ], "proteinEffect": { "hgvs": "XP_011540974.1:p.Gln1110Ter", "hgvsWellDefined": "XP_011540974.1:p.Gln1110_Phe2045delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109603" }, { "coordinates": [ { "allele": "T", "end": 3746, "referenceAllele": "C", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542673.1:c.3328C>T" ], "proteinEffect": { "hgvs": "XP_011540975.1:p.Gln1110Ter", "hgvsWellDefined": "XP_011540975.1:p.Gln1110_Phe2044delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109604" }, { "coordinates": [ { "allele": "T", "end": 3737, "referenceAllele": "C", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542674.1:c.3319C>T" ], "proteinEffect": { "hgvs": "XP_011540976.1:p.Gln1107Ter", "hgvsWellDefined": "XP_011540976.1:p.Gln1107_Phe2042delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109605" }, { "coordinates": [ { "allele": "T", "end": 3746, "referenceAllele": "C", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542675.1:c.3328C>T" ], "proteinEffect": { "hgvs": "XP_011540977.1:p.Gln1110Ter", "hgvsWellDefined": "XP_011540977.1:p.Gln1110_Phe2037delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109606" }, { "coordinates": [ { "allele": "T", "end": 3668, "referenceAllele": "C", "start": 3667 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542676.1:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_011540978.1:p.Gln1084Ter", "hgvsWellDefined": "XP_011540978.1:p.Gln1084_Phe2019delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109607" }, { "coordinates": [ { "allele": "T", "end": 3530, "referenceAllele": "C", "start": 3529 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542677.1:c.3190C>T" ], "proteinEffect": { "hgvs": "XP_011540979.1:p.Gln1064Ter", "hgvsWellDefined": "XP_011540979.1:p.Gln1064_Phe1999delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109608" }, { "coordinates": [ { "allele": "T", "end": 3395, "referenceAllele": "C", "start": 3394 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542678.1:c.3190C>T" ], "proteinEffect": { "hgvs": "XP_011540980.1:p.Gln1064Ter", "hgvsWellDefined": "XP_011540980.1:p.Gln1064_Phe1999delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109609" }, { "coordinates": [ { "allele": "T", "end": 3746, "referenceAllele": "C", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542679.1:c.3328C>T" ], "proteinEffect": { "hgvs": "XP_011540981.1:p.Gln1110Ter", "hgvsWellDefined": "XP_011540981.1:p.Gln1110_Phe1996delinsArgArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109610" }, { "coordinates": [ { "allele": "T", "end": 3688, "referenceAllele": "C", "start": 3687 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542680.1:c.3082C>T" ], "proteinEffect": { "hgvs": "XP_011540982.1:p.Gln1028Ter", "hgvsWellDefined": "XP_011540982.1:p.Gln1028_Phe1963delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109611" }, { "coordinates": [ { "allele": "T", "end": 3746, "referenceAllele": "C", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542681.1:c.3328C>T" ], "proteinEffect": { "hgvs": "XP_011540983.1:p.Gln1110Ter", "hgvsWellDefined": "XP_011540983.1:p.Gln1110_Phe1926delinsSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109612" }, { "coordinates": [ { "allele": "T", "end": 2060, "referenceAllele": "C", "start": 2059 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542682.1:c.1642C>T" ], "proteinEffect": { "hgvs": "XP_011540984.1:p.Gln548Ter", "hgvsWellDefined": "XP_011540984.1:p.Gln548_Phe1483delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109613" }, { "coordinates": [ { "allele": "T", "end": 1722, "referenceAllele": "C", "start": 1721 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542683.1:c.1642C>T" ], "proteinEffect": { "hgvs": "XP_011540985.1:p.Gln548Ter", "hgvsWellDefined": "XP_011540985.1:p.Gln548_Phe1483delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109614" }, { "coordinates": [ { "allele": "T", "end": 1982, "referenceAllele": "C", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542685.1:c.1564C>T" ], "proteinEffect": { "hgvs": "XP_011540987.1:p.Gln522Ter", "hgvsWellDefined": "XP_011540987.1:p.Gln522_Phe1457delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109615" }, { "coordinates": [ { "allele": "T", "end": 1644, "referenceAllele": "C", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542686.1:c.1564C>T" ], "proteinEffect": { "hgvs": "XP_011540988.1:p.Gln522Ter", "hgvsWellDefined": "XP_011540988.1:p.Gln522_Phe1457delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109616" }, { "coordinates": [ { "allele": "T", "end": 1911, "referenceAllele": "C", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542687.1:c.1504C>T" ], "proteinEffect": { "hgvs": "XP_011540989.1:p.Gln502Ter", "hgvsWellDefined": "XP_011540989.1:p.Gln502_Phe1437delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109617" }, { "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "C", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542688.1:c.1303C>T" ], "proteinEffect": { "hgvs": "XP_011540990.1:p.Gln435Ter", "hgvsWellDefined": "XP_011540990.1:p.Gln435_Phe1370delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109618" }, { "coordinates": [ { "allele": "T", "end": 3686, "referenceAllele": "C", "start": 3685 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_428971.2:n.3686C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118219" }, { "coordinates": [ { "allele": "T", "end": 3746, "referenceAllele": "C", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947808.1:n.3746C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141388" }, { "coordinates": [ { "allele": "T", "end": 3746, "referenceAllele": "C", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947809.1:n.3746C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141389" }, { "coordinates": [ { "allele": "T", "end": 3677, "referenceAllele": "C", "start": 3676 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947810.1:n.3677C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141390" }, { "coordinates": [ { "allele": "T", "end": 3746, "referenceAllele": "C", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947811.1:n.3746C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141391" }, { "coordinates": [ { "allele": "T", "end": 3604, "referenceAllele": "C", "start": 3603 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017364.1:c.3319C>T" ], "proteinEffect": { "hgvs": "XP_016872853.1:p.Gln1107Ter", "hgvsWellDefined": "XP_016872853.1:p.Gln1107_Phe2042delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569583" }, { "coordinates": [ { "allele": "T", "end": 3756, "referenceAllele": "C", "start": 3755 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017365.1:c.3319C>T" ], "proteinEffect": { "hgvs": "XP_016872854.1:p.Gln1107Ter", "hgvsWellDefined": "XP_016872854.1:p.Gln1107_Phe2042delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569584" }, { "coordinates": [ { "allele": "T", "end": 3539, "referenceAllele": "C", "start": 3538 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017366.1:c.3319C>T" ], "proteinEffect": { "hgvs": "XP_016872855.1:p.Gln1107Ter", "hgvsWellDefined": "XP_016872855.1:p.Gln1107_Phe2042delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569585" }, { "coordinates": [ { "allele": "T", "end": 3665, "referenceAllele": "C", "start": 3664 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017367.1:c.3319C>T" ], "proteinEffect": { "hgvs": "XP_016872856.1:p.Gln1107Ter", "hgvsWellDefined": "XP_016872856.1:p.Gln1107_Phe2042delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569586" }, { "coordinates": [ { "allele": "T", "end": 3737, "referenceAllele": "C", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017368.1:c.3319C>T" ], "proteinEffect": { "hgvs": "XP_016872857.1:p.Gln1107Ter", "hgvsWellDefined": "XP_016872857.1:p.Gln1107_Phe2041delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569587" }, { "coordinates": [ { "allele": "T", "end": 3737, "referenceAllele": "C", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017369.1:c.3319C>T" ], "proteinEffect": { "hgvs": "XP_016872858.1:p.Gln1107Ter", "hgvsWellDefined": "XP_016872858.1:p.Gln1107_Phe2034delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569588" }, { "coordinates": [ { "allele": "T", "end": 3737, "referenceAllele": "C", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017370.1:c.3319C>T" ], "proteinEffect": { "hgvs": "XP_016872859.1:p.Gln1107Ter", "hgvsWellDefined": "XP_016872859.1:p.Gln1107_Phe2033delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569589" }, { "coordinates": [ { "allele": "T", "end": 3659, "referenceAllele": "C", "start": 3658 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017371.1:c.3241C>T" ], "proteinEffect": { "hgvs": "XP_016872860.1:p.Gln1081Ter", "hgvsWellDefined": "XP_016872860.1:p.Gln1081_Phe2016delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569590" }, { "coordinates": [ { "allele": "T", "end": 3599, "referenceAllele": "C", "start": 3598 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017372.1:c.3181C>T" ], "proteinEffect": { "hgvs": "XP_016872861.1:p.Gln1061Ter", "hgvsWellDefined": "XP_016872861.1:p.Gln1061_Phe1996delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569591" }, { "coordinates": [ { "allele": "T", "end": 3535, "referenceAllele": "C", "start": 3534 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017373.2:c.3181C>T" ], "proteinEffect": { "hgvs": "XP_016872862.1:p.Gln1061Ter", "hgvsWellDefined": "XP_016872862.1:p.Gln1061_Phe1996delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569592" }, { "coordinates": [ { "allele": "T", "end": 3332, "referenceAllele": "C", "start": 3331 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017374.1:c.3181C>T" ], "proteinEffect": { "hgvs": "XP_016872863.1:p.Gln1061Ter", "hgvsWellDefined": "XP_016872863.1:p.Gln1061_Phe1996delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569593" }, { "coordinates": [ { "allele": "T", "end": 3459, "referenceAllele": "C", "start": 3458 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017375.2:c.3181C>T" ], "proteinEffect": { "hgvs": "XP_016872864.1:p.Gln1061Ter", "hgvsWellDefined": "XP_016872864.1:p.Gln1061_Phe1996delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569594" }, { "coordinates": [ { "allele": "T", "end": 3737, "referenceAllele": "C", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017376.1:c.3319C>T" ], "proteinEffect": { "hgvs": "XP_016872865.1:p.Gln1107Ter", "hgvsWellDefined": "XP_016872865.1:p.Gln1107_Phe1993delinsArgArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569595" }, { "coordinates": [ { "allele": "T", "end": 3694, "referenceAllele": "C", "start": 3693 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017377.2:c.3073C>T" ], "proteinEffect": { "hgvs": "XP_016872866.1:p.Gln1025Ter", "hgvsWellDefined": "XP_016872866.1:p.Gln1025_Phe1960delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569596" }, { "coordinates": [ { "allele": "T", "end": 3737, "referenceAllele": "C", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017378.1:c.3319C>T" ], "proteinEffect": { "hgvs": "XP_016872867.1:p.Gln1107Ter", "hgvsWellDefined": "XP_016872867.1:p.Gln1107_Phe1923delinsSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569597" }, { "coordinates": [ { "allele": "T", "end": 2051, "referenceAllele": "C", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017379.1:c.1633C>T" ], "proteinEffect": { "hgvs": "XP_016872868.1:p.Gln545Ter", "hgvsWellDefined": "XP_016872868.1:p.Gln545_Phe1480delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569598" }, { "coordinates": [ { "allele": "T", "end": 1713, "referenceAllele": "C", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017380.1:c.1633C>T" ], "proteinEffect": { "hgvs": "XP_016872869.1:p.Gln545Ter", "hgvsWellDefined": "XP_016872869.1:p.Gln545_Phe1480delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569599" }, { "coordinates": [ { "allele": "T", "end": 1973, "referenceAllele": "C", "start": 1972 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017381.1:c.1555C>T" ], "proteinEffect": { "hgvs": "XP_016872870.1:p.Gln519Ter", "hgvsWellDefined": "XP_016872870.1:p.Gln519_Phe1454delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569600" }, { "coordinates": [ { "allele": "T", "end": 1635, "referenceAllele": "C", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017382.1:c.1555C>T" ], "proteinEffect": { "hgvs": "XP_016872871.1:p.Gln519Ter", "hgvsWellDefined": "XP_016872871.1:p.Gln519_Phe1454delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569601" }, { "coordinates": [ { "allele": "T", "end": 1902, "referenceAllele": "C", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017383.1:c.1495C>T" ], "proteinEffect": { "hgvs": "XP_016872872.1:p.Gln499Ter", "hgvsWellDefined": "XP_016872872.1:p.Gln499_Phe1434delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569602" }, { "coordinates": [ { "allele": "T", "end": 1701, "referenceAllele": "C", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017384.1:c.1495C>T" ], "proteinEffect": { "hgvs": "XP_016872873.1:p.Gln499Ter", "hgvsWellDefined": "XP_016872873.1:p.Gln499_Phe1434delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569603" }, { "coordinates": [ { "allele": "T", "end": 1457, "referenceAllele": "C", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017385.1:c.1294C>T" ], "proteinEffect": { "hgvs": "XP_016872874.1:p.Gln432Ter", "hgvsWellDefined": "XP_016872874.1:p.Gln432_Phe1367delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569604" }, { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017386.1:c.1357C>T" ], "proteinEffect": { "hgvs": "XP_016872875.1:p.Gln453Ter", "hgvsWellDefined": "XP_016872875.1:p.Gln453_Phe1339delinsArgArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569605" }, { "coordinates": [ { "allele": "T", "end": 3737, "referenceAllele": "C", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_001747793.1:n.3737C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595910" }, { "coordinates": [ { "allele": "T", "end": 3737, "referenceAllele": "C", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_001747794.1:n.3737C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595911" }, { "coordinates": [ { "allele": "T", "end": 3737, "referenceAllele": "C", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_002957132.1:n.3737C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603268" }, { "coordinates": [ { "allele": "T", "end": 3677, "referenceAllele": "C", "start": 3676 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_002957133.1:n.3677C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603269" }, { "coordinates": [ { "allele": "T", "end": 3686, "referenceAllele": "C", "start": 3685 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_428971.3:n.3686C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606619" }, { "@id": "http://reg.genome.network/allele/PA130152", "coordinates": [ { "allele": "T", "end": 1721, "referenceAllele": "C", "start": 1720 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_014956.5:c.1573C>T" ], "proteinEffect": { "hgvs": "NP_055771.4:p.Gln525Ter", "hgvsWellDefined": "NP_055771.4:p.Gln525_Phe1460delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668576", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000278935.8:c.1573C>T" }, "RefSeq": { "hgvs": "NM_014956.5:c.1573C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000278935.3:p.Gln525Ter" }, "RefSeq": { "hgvs": "NP_055771.4:p.Gln525Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916005175", "coordinates": [ { "allele": "T", "end": 1663, "referenceAllele": "C", "start": 1662 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_001271933.2:c.1582C>T" ], "proteinEffect": { "hgvs": "NP_001258862.1:p.Gln528Ter", "hgvsWellDefined": "NP_001258862.1:p.Gln528_Phe1455delinsArgGluGlnAlaProSerProProAlaAlaCysGluLysGlyLysGluGlnHisSerGlnAlaGluGluLeuGlyProGlyGlnGluGluAlaGluAspProGluGluLysValAlaValSerProThrProProValSerProGluValArgSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715320" } ], "type": "nucleotide" }