{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA130153", "communityStandardTitle": [ "NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45871[alleleid]", "alleleId": 45871, "preferredName": "NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37298", "RCV": [ "RCV000030837" ], "variationId": 37298 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-117257920-C-T", "id": "11-117257920-C-T", "variant": "11:117257920 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.117257920C>T?assembly=hg19", "id": "chr11:g.117257920C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.117387204C>T?assembly=hg38", "id": "chr11:g.117387204C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/145646425", "rs": 145646425 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-117257920-C-T?dataset=gnomad_r2_1", "id": "11-117257920-C-T", "variant": "11:117257920 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-117387204-C-T?dataset=gnomad_r3", "id": "11-117387204-C-T", "variant": "11:117387204 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-117387204-C-T?dataset=gnomad_r4", "id": "11-117387204-C-T", "variant": "11:117387204 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 117387204, "referenceAllele": "C", "start": 117387203 } ], "hgvs": [ "NC_000011.10:g.117387204C>T", "CM000673.2:g.117387204C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 117257920, "referenceAllele": "C", "start": 117257919 } ], "hgvs": [ "NC_000011.9:g.117257920C>T", "CM000673.1:g.117257920C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 116763130, "referenceAllele": "C", "start": 116763129 } ], "hgvs": [ "NC_000011.8:g.116763130C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 70427, "referenceAllele": "C", "start": 70426 } ], "hgvs": [ "NG_033032.1:g.70427C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005366" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1874, "referenceAllele": "C", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000278935.8:c.1726C>T" ], "proteinEffect": { "hgvs": "ENSP00000278935.3:p.Arg576Ter", "hgvsWellDefined": "ENSP00000278935.3:p.Arg576_Phe1460delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743512", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000278935.8:c.1726C>T" }, "RefSeq": { "hgvs": "NM_014956.5:c.1726C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000278935.3:p.Arg576Ter" }, "RefSeq": { "hgvs": "NP_055771.4:p.Arg576Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1873, "referenceAllele": "C", "start": 1872 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000278935.7:c.1726C>T" ], "proteinEffect": { "hgvs": "ENSP00000278935.3:p.Arg576Ter", "hgvsWellDefined": "ENSP00000278935.3:p.Arg576_Phe1460delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252846" }, { "coordinates": [ { "allele": "T", "end": 175, "referenceAllele": "C", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000529153.5:n.175C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS354581" }, { "coordinates": [ { "allele": "T", "end": 2608, "referenceAllele": "C", "start": 2607 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000533223.1:n.2608C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358029" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000533675.5:n.1834C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358408" }, { "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "C", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000533706.5:n.1050C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358435" }, { "@id": "http://reg.genome.network/allele/PA916005179", "coordinates": [ { "allele": "T", "end": 1816, "referenceAllele": "C", "start": 1815 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_001271933.1:c.1735C>T" ], "proteinEffect": { "hgvs": "NP_001258862.1:p.Arg579Ter", "hgvsWellDefined": "NP_001258862.1:p.Arg579_Phe1455delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020729" }, { "@id": "http://reg.genome.network/allele/PA130154", "coordinates": [ { "allele": "T", "end": 1873, "referenceAllele": "C", "start": 1872 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_014956.4:c.1726C>T" ], "proteinEffect": { "hgvs": "NP_055771.4:p.Arg576Ter", "hgvsWellDefined": "NP_055771.4:p.Arg576_Phe1460delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033623" }, { "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_005271453.1:c.3412C>T" ], "proteinEffect": { "hgvs": "XP_005271510.1:p.Arg1138Ter", "hgvsWellDefined": "XP_005271510.1:p.Arg1138_Phe2022delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066883" }, { "coordinates": [ { "allele": "T", "end": 2144, "referenceAllele": "C", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_005271456.1:c.1726C>T" ], "proteinEffect": { "hgvs": "XP_005271513.1:p.Arg576Ter", "hgvsWellDefined": "XP_005271513.1:p.Arg576_Phe1460delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066884" }, { "coordinates": [ { "allele": "T", "end": 2153, "referenceAllele": "C", "start": 2152 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_005271457.1:c.1735C>T" ], "proteinEffect": { "hgvs": "XP_005271514.1:p.Arg579Ter", "hgvsWellDefined": "XP_005271514.1:p.Arg579_Phe1455delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066885" }, { "coordinates": [ { "allele": "T", "end": 3839, "referenceAllele": "C", "start": 3838 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_006718788.1:c.3421C>T" ], "proteinEffect": { "hgvs": "XP_006718851.1:p.Arg1141Ter", "hgvsWellDefined": "XP_006718851.1:p.Arg1141_Phe2025delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072791" }, { "coordinates": [ { "allele": "T", "end": 2066, "referenceAllele": "C", "start": 2065 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_006718794.1:c.1648C>T" ], "proteinEffect": { "hgvs": "XP_006718857.1:p.Arg550Ter", "hgvsWellDefined": "XP_006718857.1:p.Arg550_Phe1434delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072792" }, { "coordinates": [ { "allele": "T", "end": 3899, "referenceAllele": "C", "start": 3898 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542670.1:c.3481C>T" ], "proteinEffect": { "hgvs": "XP_011540972.1:p.Arg1161Ter", "hgvsWellDefined": "XP_011540972.1:p.Arg1161_Phe2045delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109601" }, { "coordinates": [ { "allele": "T", "end": 3650, "referenceAllele": "C", "start": 3649 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542671.1:c.3481C>T" ], "proteinEffect": { "hgvs": "XP_011540973.1:p.Arg1161Ter", "hgvsWellDefined": "XP_011540973.1:p.Arg1161_Phe2045delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109602" }, { "coordinates": [ { "allele": "T", "end": 3827, "referenceAllele": "C", "start": 3826 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542672.1:c.3481C>T" ], "proteinEffect": { "hgvs": "XP_011540974.1:p.Arg1161Ter", "hgvsWellDefined": "XP_011540974.1:p.Arg1161_Phe2045delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109603" }, { "coordinates": [ { "allele": "T", "end": 3899, "referenceAllele": "C", "start": 3898 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542673.1:c.3481C>T" ], "proteinEffect": { "hgvs": "XP_011540975.1:p.Arg1161Ter", "hgvsWellDefined": "XP_011540975.1:p.Arg1161_Phe2044delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109604" }, { "coordinates": [ { "allele": "T", "end": 3890, "referenceAllele": "C", "start": 3889 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542674.1:c.3472C>T" ], "proteinEffect": { "hgvs": "XP_011540976.1:p.Arg1158Ter", "hgvsWellDefined": "XP_011540976.1:p.Arg1158_Phe2042delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109605" }, { "coordinates": [ { "allele": "T", "end": 3899, "referenceAllele": "C", "start": 3898 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542675.1:c.3481C>T" ], "proteinEffect": { "hgvs": "XP_011540977.1:p.Arg1161Ter", "hgvsWellDefined": "XP_011540977.1:p.Arg1161_Phe2037delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109606" }, { "coordinates": [ { "allele": "T", "end": 3821, "referenceAllele": "C", "start": 3820 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542676.1:c.3403C>T" ], "proteinEffect": { "hgvs": "XP_011540978.1:p.Arg1135Ter", "hgvsWellDefined": "XP_011540978.1:p.Arg1135_Phe2019delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109607" }, { "coordinates": [ { "allele": "T", "end": 3683, "referenceAllele": "C", "start": 3682 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542677.1:c.3343C>T" ], "proteinEffect": { "hgvs": "XP_011540979.1:p.Arg1115Ter", "hgvsWellDefined": "XP_011540979.1:p.Arg1115_Phe1999delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109608" }, { "coordinates": [ { "allele": "T", "end": 3548, "referenceAllele": "C", "start": 3547 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542678.1:c.3343C>T" ], "proteinEffect": { "hgvs": "XP_011540980.1:p.Arg1115Ter", "hgvsWellDefined": "XP_011540980.1:p.Arg1115_Phe1999delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109609" }, { "coordinates": [ { "allele": "T", "end": 3752, "referenceAllele": "C", "start": 3751 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542679.1:c.3334C>T" ], "proteinEffect": { "hgvs": "XP_011540981.1:p.Arg1112Ter", "hgvsWellDefined": "XP_011540981.1:p.Arg1112_Phe1996delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109610" }, { "coordinates": [ { "allele": "T", "end": 3841, "referenceAllele": "C", "start": 3840 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542680.1:c.3235C>T" ], "proteinEffect": { "hgvs": "XP_011540982.1:p.Arg1079Ter", "hgvsWellDefined": "XP_011540982.1:p.Arg1079_Phe1963delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109611" }, { "coordinates": [ { "allele": "T", "end": 3750, "endIntronDirection": "-", "endIntronOffset": 3572, "referenceAllele": "C", "start": 3750, "startIntronDirection": "-", "startIntronOffset": 3573 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542681.1:c.3333-3573C>T" ], "proteinEffect": { "hgvs": "XP_011540983.1:n.3333-3573C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS109612" }, { "coordinates": [ { "allele": "T", "end": 2213, "referenceAllele": "C", "start": 2212 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542682.1:c.1795C>T" ], "proteinEffect": { "hgvs": "XP_011540984.1:p.Arg599Ter", "hgvsWellDefined": "XP_011540984.1:p.Arg599_Phe1483delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109613" }, { "coordinates": [ { "allele": "T", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542683.1:c.1795C>T" ], "proteinEffect": { "hgvs": "XP_011540985.1:p.Arg599Ter", "hgvsWellDefined": "XP_011540985.1:p.Arg599_Phe1483delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109614" }, { "coordinates": [ { "allele": "T", "end": 2135, "referenceAllele": "C", "start": 2134 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542685.1:c.1717C>T" ], "proteinEffect": { "hgvs": "XP_011540987.1:p.Arg573Ter", "hgvsWellDefined": "XP_011540987.1:p.Arg573_Phe1457delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109615" }, { "coordinates": [ { "allele": "T", "end": 1797, "referenceAllele": "C", "start": 1796 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542686.1:c.1717C>T" ], "proteinEffect": { "hgvs": "XP_011540988.1:p.Arg573Ter", "hgvsWellDefined": "XP_011540988.1:p.Arg573_Phe1457delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109616" }, { "coordinates": [ { "allele": "T", "end": 2064, "referenceAllele": "C", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542687.1:c.1657C>T" ], "proteinEffect": { "hgvs": "XP_011540989.1:p.Arg553Ter", "hgvsWellDefined": "XP_011540989.1:p.Arg553_Phe1437delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109617" }, { "coordinates": [ { "allele": "T", "end": 1618, "referenceAllele": "C", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542688.1:c.1456C>T" ], "proteinEffect": { "hgvs": "XP_011540990.1:p.Arg486Ter", "hgvsWellDefined": "XP_011540990.1:p.Arg486_Phe1370delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109618" }, { "coordinates": [ { "allele": "T", "end": 3692, "referenceAllele": "C", "start": 3691 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_428971.2:n.3692C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118219" }, { "coordinates": [ { "allele": "T", "end": 3899, "referenceAllele": "C", "start": 3898 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947808.1:n.3899C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141388" }, { "coordinates": [ { "allele": "T", "end": 3899, "referenceAllele": "C", "start": 3898 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947809.1:n.3899C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141389" }, { "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947810.1:n.3830C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141390" }, { "coordinates": [ { "allele": "T", "end": 4035, "referenceAllele": "C", "start": 4034 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947811.1:n.4035C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141391" }, { "coordinates": [ { "allele": "T", "end": 3757, "referenceAllele": "C", "start": 3756 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017364.1:c.3472C>T" ], "proteinEffect": { "hgvs": "XP_016872853.1:p.Arg1158Ter", "hgvsWellDefined": "XP_016872853.1:p.Arg1158_Phe2042delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569583" }, { "coordinates": [ { "allele": "T", "end": 3909, "referenceAllele": "C", "start": 3908 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017365.1:c.3472C>T" ], "proteinEffect": { "hgvs": "XP_016872854.1:p.Arg1158Ter", "hgvsWellDefined": "XP_016872854.1:p.Arg1158_Phe2042delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569584" }, { "coordinates": [ { "allele": "T", "end": 3692, "referenceAllele": "C", "start": 3691 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017366.1:c.3472C>T" ], "proteinEffect": { "hgvs": "XP_016872855.1:p.Arg1158Ter", "hgvsWellDefined": "XP_016872855.1:p.Arg1158_Phe2042delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569585" }, { "coordinates": [ { "allele": "T", "end": 3818, "referenceAllele": "C", "start": 3817 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017367.1:c.3472C>T" ], "proteinEffect": { "hgvs": "XP_016872856.1:p.Arg1158Ter", "hgvsWellDefined": "XP_016872856.1:p.Arg1158_Phe2042delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569586" }, { "coordinates": [ { "allele": "T", "end": 3890, "referenceAllele": "C", "start": 3889 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017368.1:c.3472C>T" ], "proteinEffect": { "hgvs": "XP_016872857.1:p.Arg1158Ter", "hgvsWellDefined": "XP_016872857.1:p.Arg1158_Phe2041delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569587" }, { "coordinates": [ { "allele": "T", "end": 3890, "referenceAllele": "C", "start": 3889 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017369.1:c.3472C>T" ], "proteinEffect": { "hgvs": "XP_016872858.1:p.Arg1158Ter", "hgvsWellDefined": "XP_016872858.1:p.Arg1158_Phe2034delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569588" }, { "coordinates": [ { "allele": "T", "end": 3890, "referenceAllele": "C", "start": 3889 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017370.1:c.3472C>T" ], "proteinEffect": { "hgvs": "XP_016872859.1:p.Arg1158Ter", "hgvsWellDefined": "XP_016872859.1:p.Arg1158_Phe2033delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569589" }, { "coordinates": [ { "allele": "T", "end": 3812, "referenceAllele": "C", "start": 3811 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017371.1:c.3394C>T" ], "proteinEffect": { "hgvs": "XP_016872860.1:p.Arg1132Ter", "hgvsWellDefined": "XP_016872860.1:p.Arg1132_Phe2016delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569590" }, { "coordinates": [ { "allele": "T", "end": 3752, "referenceAllele": "C", "start": 3751 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017372.1:c.3334C>T" ], "proteinEffect": { "hgvs": "XP_016872861.1:p.Arg1112Ter", "hgvsWellDefined": "XP_016872861.1:p.Arg1112_Phe1996delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569591" }, { "coordinates": [ { "allele": "T", "end": 3688, "referenceAllele": "C", "start": 3687 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017373.2:c.3334C>T" ], "proteinEffect": { "hgvs": "XP_016872862.1:p.Arg1112Ter", "hgvsWellDefined": "XP_016872862.1:p.Arg1112_Phe1996delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569592" }, { "coordinates": [ { "allele": "T", "end": 3485, "referenceAllele": "C", "start": 3484 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017374.1:c.3334C>T" ], "proteinEffect": { "hgvs": "XP_016872863.1:p.Arg1112Ter", "hgvsWellDefined": "XP_016872863.1:p.Arg1112_Phe1996delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569593" }, { "coordinates": [ { "allele": "T", "end": 3612, "referenceAllele": "C", "start": 3611 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017375.2:c.3334C>T" ], "proteinEffect": { "hgvs": "XP_016872864.1:p.Arg1112Ter", "hgvsWellDefined": "XP_016872864.1:p.Arg1112_Phe1996delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569594" }, { "coordinates": [ { "allele": "T", "end": 3743, "referenceAllele": "C", "start": 3742 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017376.1:c.3325C>T" ], "proteinEffect": { "hgvs": "XP_016872865.1:p.Arg1109Ter", "hgvsWellDefined": "XP_016872865.1:p.Arg1109_Phe1993delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569595" }, { "coordinates": [ { "allele": "T", "end": 3847, "referenceAllele": "C", "start": 3846 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017377.2:c.3226C>T" ], "proteinEffect": { "hgvs": "XP_016872866.1:p.Arg1076Ter", "hgvsWellDefined": "XP_016872866.1:p.Arg1076_Phe1960delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569596" }, { "coordinates": [ { "allele": "T", "end": 3741, "endIntronDirection": "-", "endIntronOffset": 3572, "referenceAllele": "C", "start": 3741, "startIntronDirection": "-", "startIntronOffset": 3573 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017378.1:c.3324-3573C>T" ], "proteinEffect": { "hgvs": "XP_016872867.1:n.3324-3573C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS569597" }, { "coordinates": [ { "allele": "T", "end": 2204, "referenceAllele": "C", "start": 2203 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017379.1:c.1786C>T" ], "proteinEffect": { "hgvs": "XP_016872868.1:p.Arg596Ter", "hgvsWellDefined": "XP_016872868.1:p.Arg596_Phe1480delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569598" }, { "coordinates": [ { "allele": "T", "end": 1866, "referenceAllele": "C", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017380.1:c.1786C>T" ], "proteinEffect": { "hgvs": "XP_016872869.1:p.Arg596Ter", "hgvsWellDefined": "XP_016872869.1:p.Arg596_Phe1480delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569599" }, { "coordinates": [ { "allele": "T", "end": 2126, "referenceAllele": "C", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017381.1:c.1708C>T" ], "proteinEffect": { "hgvs": "XP_016872870.1:p.Arg570Ter", "hgvsWellDefined": "XP_016872870.1:p.Arg570_Phe1454delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569600" }, { "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017382.1:c.1708C>T" ], "proteinEffect": { "hgvs": "XP_016872871.1:p.Arg570Ter", "hgvsWellDefined": "XP_016872871.1:p.Arg570_Phe1454delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569601" }, { "coordinates": [ { "allele": "T", "end": 2055, "referenceAllele": "C", "start": 2054 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017383.1:c.1648C>T" ], "proteinEffect": { "hgvs": "XP_016872872.1:p.Arg550Ter", "hgvsWellDefined": "XP_016872872.1:p.Arg550_Phe1434delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569602" }, { "coordinates": [ { "allele": "T", "end": 1854, "referenceAllele": "C", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017384.1:c.1648C>T" ], "proteinEffect": { "hgvs": "XP_016872873.1:p.Arg550Ter", "hgvsWellDefined": "XP_016872873.1:p.Arg550_Phe1434delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569603" }, { "coordinates": [ { "allele": "T", "end": 1610, "referenceAllele": "C", "start": 1609 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017385.1:c.1447C>T" ], "proteinEffect": { "hgvs": "XP_016872874.1:p.Arg483Ter", "hgvsWellDefined": "XP_016872874.1:p.Arg483_Phe1367delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569604" }, { "coordinates": [ { "allele": "T", "end": 1770, "referenceAllele": "C", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017386.1:c.1363C>T" ], "proteinEffect": { "hgvs": "XP_016872875.1:p.Arg455Ter", "hgvsWellDefined": "XP_016872875.1:p.Arg455_Phe1339delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569605" }, { "coordinates": [ { "allele": "T", "end": 3890, "referenceAllele": "C", "start": 3889 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_001747793.1:n.3890C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595910" }, { "coordinates": [ { "allele": "T", "end": 3890, "referenceAllele": "C", "start": 3889 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_001747794.1:n.3890C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595911" }, { "coordinates": [ { "allele": "T", "end": 3890, "referenceAllele": "C", "start": 3889 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_002957132.1:n.3890C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603268" }, { "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_002957133.1:n.3830C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603269" }, { "coordinates": [ { "allele": "T", "end": 3692, "referenceAllele": "C", "start": 3691 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_428971.3:n.3692C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606619" }, { "@id": "http://reg.genome.network/allele/PA130154", "coordinates": [ { "allele": "T", "end": 1874, "referenceAllele": "C", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_014956.5:c.1726C>T" ], "proteinEffect": { "hgvs": "NP_055771.4:p.Arg576Ter", "hgvsWellDefined": "NP_055771.4:p.Arg576_Phe1460delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668576", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000278935.8:c.1726C>T" }, "RefSeq": { "hgvs": "NM_014956.5:c.1726C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000278935.3:p.Arg576Ter" }, "RefSeq": { "hgvs": "NP_055771.4:p.Arg576Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916005179", "coordinates": [ { "allele": "T", "end": 1816, "referenceAllele": "C", "start": 1815 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_001271933.2:c.1735C>T" ], "proteinEffect": { "hgvs": "NP_001258862.1:p.Arg579Ter", "hgvsWellDefined": "NP_001258862.1:p.Arg579_Phe1455delinsSerThrGluProValAlaProProGluGlnLeuSerGluAlaAlaLeuLysAlaMetGluGluAlaValAlaGlnValLeuGluGlnAspGlnArgHisLeuLeuGluSerLysGlnGluLysMetGlnGlnLeuArgGluLysLeuCysGlnGluGluGluGluGluIleLeuArgLeuHisGlnGlnLysGluGlnSerLeuSerSerLeuArgGluArgLeuGlnLysAlaIleGluGluGluGluAlaArgMetArgGluGluGluSerGlnArgLeuSerTrpLeuArgAlaGlnValGlnSerSerThrGlnAlaAspGluAspGlnIleArgAlaGluGlnGluAlaSerLeuGlnLysLeuArgGluGluLeuGluSerGlnGlnLysAlaGluArgAlaSerLeuGluGlnLysAsnArgGlnMetLeuGluGlnLeuLysGluGluIleGluAlaSerGluLysSerGluGlnAlaAlaLeuAsnAlaAlaLysGluLysAlaLeuGlnGlnLeuArgGluGlnLeuGluGlyGluArgLysGluAlaValAlaThrLeuGluLysGluHisSerAlaGluLeuGluArgLeuCysSerSerLeuGluAlaLysHisArgGluValValSerSerLeuGlnLysLysIleGlnGluAlaGlnGlnLysGluGluAlaGlnLeuGlnLysCysLeuGlyGlnValGluHisArgValHisGlnLysSerTyrHisValAlaGlyTyrGluHisGluLeuSerSerLeuLeuArgGluLysArgGlnGluValGluGlyGluHisGluArgArgLeuAspLysMetLysGluGluHisGlnGlnValMetAlaLysAlaArgGluGlnTyrGluAlaGluGluArgLysGlnArgAlaGluLeuLeuGlyHisLeuThrGlyGluLeuGluArgLeuGlnArgAlaHisGluArgGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715320" } ], "type": "nucleotide" }