{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6295184", "communityStandardTitle": [ "NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=564431[alleleid]", "alleleId": 564431, "preferredName": "NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/571715", "RCV": [ "RCV000692933" ], "variationId": 571715 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-117265138-C-T", "id": "11-117265138-C-T", "variant": "11:117265138 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.117265138C>T?assembly=hg19", "id": "chr11:g.117265138C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.117394422C>T?assembly=hg38", "id": "chr11:g.117394422C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/764893412", "rs": 764893412 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-117265138-C-T?dataset=gnomad_r2_1", "id": "11-117265138-C-T", "variant": "11:117265138 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-117394422-C-T?dataset=gnomad_r3", "id": "11-117394422-C-T", "variant": "11:117394422 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-117394422-C-T?dataset=gnomad_r4", "id": "11-117394422-C-T", "variant": "11:117394422 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 117394422, "referenceAllele": "C", "start": 117394421 } ], "hgvs": [ "NC_000011.10:g.117394422C>T", "CM000673.2:g.117394422C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 117265138, "referenceAllele": "C", "start": 117265137 } ], "hgvs": [ "NC_000011.9:g.117265138C>T", "CM000673.1:g.117265138C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 116770348, "referenceAllele": "C", "start": 116770347 } ], "hgvs": [ "NC_000011.8:g.116770348C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 77645, "referenceAllele": "C", "start": 77644 } ], "hgvs": [ "NG_033032.1:g.77645C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005366" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2837, "referenceAllele": "C", "start": 2836 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000278935.8:c.2689C>T" ], "proteinEffect": { "hgvs": "ENSP00000278935.3:p.Arg897Ter", "hgvsWellDefined": "ENSP00000278935.3:p.Arg897_Phe1460delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743512", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000278935.8:c.2689C>T" }, "RefSeq": { "hgvs": "NM_014956.5:c.2689C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000278935.3:p.Arg897Ter" }, "RefSeq": { "hgvs": "NP_055771.4:p.Arg897Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2836, "referenceAllele": "C", "start": 2835 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000278935.7:c.2689C>T" ], "proteinEffect": { "hgvs": "ENSP00000278935.3:p.Arg897Ter", "hgvsWellDefined": "ENSP00000278935.3:p.Arg897_Phe1460delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252846" }, { "coordinates": [ { "allele": "T", "end": 3571, "referenceAllele": "C", "start": 3570 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000533223.1:n.3571C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358029" }, { "coordinates": [ { "allele": "T", "end": 2797, "referenceAllele": "C", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000533675.5:n.2797C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358408" }, { "coordinates": [ { "allele": "T", "end": 2013, "referenceAllele": "C", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000533706.5:n.2013C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358435" }, { "@id": "http://reg.genome.network/allele/PA916005183", "coordinates": [ { "allele": "T", "end": 2779, "referenceAllele": "C", "start": 2778 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_001271933.1:c.2698C>T" ], "proteinEffect": { "hgvs": "NP_001258862.1:p.Arg900Ter", "hgvsWellDefined": "NP_001258862.1:p.Arg900_Phe1455delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020729" }, { "@id": "http://reg.genome.network/allele/PA891847994", "coordinates": [ { "allele": "T", "end": 2836, "referenceAllele": "C", "start": 2835 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_014956.4:c.2689C>T" ], "proteinEffect": { "hgvs": "NP_055771.4:p.Arg897Ter", "hgvsWellDefined": "NP_055771.4:p.Arg897_Phe1460delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033623" }, { "coordinates": [ { "allele": "T", "end": 4793, "referenceAllele": "C", "start": 4792 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_005271453.1:c.4375C>T" ], "proteinEffect": { "hgvs": "XP_005271510.1:p.Arg1459Ter", "hgvsWellDefined": "XP_005271510.1:p.Arg1459_Phe2022delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066883" }, { "coordinates": [ { "allele": "T", "end": 3107, "referenceAllele": "C", "start": 3106 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_005271456.1:c.2689C>T" ], "proteinEffect": { "hgvs": "XP_005271513.1:p.Arg897Ter", "hgvsWellDefined": "XP_005271513.1:p.Arg897_Phe1460delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066884" }, { "coordinates": [ { "allele": "T", "end": 3116, "referenceAllele": "C", "start": 3115 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_005271457.1:c.2698C>T" ], "proteinEffect": { "hgvs": "XP_005271514.1:p.Arg900Ter", "hgvsWellDefined": "XP_005271514.1:p.Arg900_Phe1455delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066885" }, { "coordinates": [ { "allele": "T", "end": 4802, "referenceAllele": "C", "start": 4801 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_006718788.1:c.4384C>T" ], "proteinEffect": { "hgvs": "XP_006718851.1:p.Arg1462Ter", "hgvsWellDefined": "XP_006718851.1:p.Arg1462_Phe2025delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072791" }, { "coordinates": [ { "allele": "T", "end": 3029, "referenceAllele": "C", "start": 3028 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_006718794.1:c.2611C>T" ], "proteinEffect": { "hgvs": "XP_006718857.1:p.Arg871Ter", "hgvsWellDefined": "XP_006718857.1:p.Arg871_Phe1434delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072792" }, { "coordinates": [ { "allele": "T", "end": 4862, "referenceAllele": "C", "start": 4861 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542670.1:c.4444C>T" ], "proteinEffect": { "hgvs": "XP_011540972.1:p.Arg1482Ter", "hgvsWellDefined": "XP_011540972.1:p.Arg1482_Phe2045delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109601" }, { "coordinates": [ { "allele": "T", "end": 4613, "referenceAllele": "C", "start": 4612 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542671.1:c.4444C>T" ], "proteinEffect": { "hgvs": "XP_011540973.1:p.Arg1482Ter", "hgvsWellDefined": "XP_011540973.1:p.Arg1482_Phe2045delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109602" }, { "coordinates": [ { "allele": "T", "end": 4790, "referenceAllele": "C", "start": 4789 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542672.1:c.4444C>T" ], "proteinEffect": { "hgvs": "XP_011540974.1:p.Arg1482Ter", "hgvsWellDefined": "XP_011540974.1:p.Arg1482_Phe2045delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109603" }, { "coordinates": [ { "allele": "T", "end": 4862, "referenceAllele": "C", "start": 4861 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542673.1:c.4444C>T" ], "proteinEffect": { "hgvs": "XP_011540975.1:p.Arg1482Ter", "hgvsWellDefined": "XP_011540975.1:p.Arg1482_Phe2044delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109604" }, { "coordinates": [ { "allele": "T", "end": 4853, "referenceAllele": "C", "start": 4852 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542674.1:c.4435C>T" ], "proteinEffect": { "hgvs": "XP_011540976.1:p.Arg1479Ter", "hgvsWellDefined": "XP_011540976.1:p.Arg1479_Phe2042delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109605" }, { "coordinates": [ { "allele": "T", "end": 4862, "referenceAllele": "C", "start": 4861 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542675.1:c.4444C>T" ], "proteinEffect": { "hgvs": "XP_011540977.1:p.Arg1482Ter", "hgvsWellDefined": "XP_011540977.1:p.Arg1482_Phe2037delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109606" }, { "coordinates": [ { "allele": "T", "end": 4784, "referenceAllele": "C", "start": 4783 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542676.1:c.4366C>T" ], "proteinEffect": { "hgvs": "XP_011540978.1:p.Arg1456Ter", "hgvsWellDefined": "XP_011540978.1:p.Arg1456_Phe2019delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109607" }, { "coordinates": [ { "allele": "T", "end": 4646, "referenceAllele": "C", "start": 4645 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542677.1:c.4306C>T" ], "proteinEffect": { "hgvs": "XP_011540979.1:p.Arg1436Ter", "hgvsWellDefined": "XP_011540979.1:p.Arg1436_Phe1999delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109608" }, { "coordinates": [ { "allele": "T", "end": 4511, "referenceAllele": "C", "start": 4510 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542678.1:c.4306C>T" ], "proteinEffect": { "hgvs": "XP_011540980.1:p.Arg1436Ter", "hgvsWellDefined": "XP_011540980.1:p.Arg1436_Phe1999delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109609" }, { "coordinates": [ { "allele": "T", "end": 4715, "referenceAllele": "C", "start": 4714 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542679.1:c.4297C>T" ], "proteinEffect": { "hgvs": "XP_011540981.1:p.Arg1433Ter", "hgvsWellDefined": "XP_011540981.1:p.Arg1433_Phe1996delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109610" }, { "coordinates": [ { "allele": "T", "end": 4804, "referenceAllele": "C", "start": 4803 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542680.1:c.4198C>T" ], "proteinEffect": { "hgvs": "XP_011540982.1:p.Arg1400Ter", "hgvsWellDefined": "XP_011540982.1:p.Arg1400_Phe1963delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109611" }, { "coordinates": [ { "allele": "T", "end": 4505, "referenceAllele": "C", "start": 4504 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542681.1:c.4087C>T" ], "proteinEffect": { "hgvs": "XP_011540983.1:p.Arg1363Ter", "hgvsWellDefined": "XP_011540983.1:p.Arg1363_Phe1926delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109612" }, { "coordinates": [ { "allele": "T", "end": 3176, "referenceAllele": "C", "start": 3175 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542682.1:c.2758C>T" ], "proteinEffect": { "hgvs": "XP_011540984.1:p.Arg920Ter", "hgvsWellDefined": "XP_011540984.1:p.Arg920_Phe1483delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109613" }, { "coordinates": [ { "allele": "T", "end": 2838, "referenceAllele": "C", "start": 2837 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542683.1:c.2758C>T" ], "proteinEffect": { "hgvs": "XP_011540985.1:p.Arg920Ter", "hgvsWellDefined": "XP_011540985.1:p.Arg920_Phe1483delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109614" }, { "coordinates": [ { "allele": "T", "end": 3098, "referenceAllele": "C", "start": 3097 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542685.1:c.2680C>T" ], "proteinEffect": { "hgvs": "XP_011540987.1:p.Arg894Ter", "hgvsWellDefined": "XP_011540987.1:p.Arg894_Phe1457delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109615" }, { "coordinates": [ { "allele": "T", "end": 2760, "referenceAllele": "C", "start": 2759 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542686.1:c.2680C>T" ], "proteinEffect": { "hgvs": "XP_011540988.1:p.Arg894Ter", "hgvsWellDefined": "XP_011540988.1:p.Arg894_Phe1457delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109616" }, { "coordinates": [ { "allele": "T", "end": 3027, "referenceAllele": "C", "start": 3026 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542687.1:c.2620C>T" ], "proteinEffect": { "hgvs": "XP_011540989.1:p.Arg874Ter", "hgvsWellDefined": "XP_011540989.1:p.Arg874_Phe1437delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109617" }, { "coordinates": [ { "allele": "T", "end": 2581, "referenceAllele": "C", "start": 2580 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542688.1:c.2419C>T" ], "proteinEffect": { "hgvs": "XP_011540990.1:p.Arg807Ter", "hgvsWellDefined": "XP_011540990.1:p.Arg807_Phe1370delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109618" }, { "coordinates": [ { "allele": "T", "end": 4655, "referenceAllele": "C", "start": 4654 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_428971.2:n.4655C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118219" }, { "coordinates": [ { "allele": "T", "end": 4862, "referenceAllele": "C", "start": 4861 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947808.1:n.4862C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141388" }, { "coordinates": [ { "allele": "T", "end": 4862, "referenceAllele": "C", "start": 4861 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947809.1:n.4862C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141389" }, { "coordinates": [ { "allele": "T", "end": 4793, "referenceAllele": "C", "start": 4792 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947810.1:n.4793C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141390" }, { "coordinates": [ { "allele": "T", "end": 4720, "referenceAllele": "C", "start": 4719 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017364.1:c.4435C>T" ], "proteinEffect": { "hgvs": "XP_016872853.1:p.Arg1479Ter", "hgvsWellDefined": "XP_016872853.1:p.Arg1479_Phe2042delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569583" }, { "coordinates": [ { "allele": "T", "end": 4872, "referenceAllele": "C", "start": 4871 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017365.1:c.4435C>T" ], "proteinEffect": { "hgvs": "XP_016872854.1:p.Arg1479Ter", "hgvsWellDefined": "XP_016872854.1:p.Arg1479_Phe2042delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569584" }, { "coordinates": [ { "allele": "T", "end": 4655, "referenceAllele": "C", "start": 4654 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017366.1:c.4435C>T" ], "proteinEffect": { "hgvs": "XP_016872855.1:p.Arg1479Ter", "hgvsWellDefined": "XP_016872855.1:p.Arg1479_Phe2042delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569585" }, { "coordinates": [ { "allele": "T", "end": 4781, "referenceAllele": "C", "start": 4780 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017367.1:c.4435C>T" ], "proteinEffect": { "hgvs": "XP_016872856.1:p.Arg1479Ter", "hgvsWellDefined": "XP_016872856.1:p.Arg1479_Phe2042delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569586" }, { "coordinates": [ { "allele": "T", "end": 4853, "referenceAllele": "C", "start": 4852 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017368.1:c.4435C>T" ], "proteinEffect": { "hgvs": "XP_016872857.1:p.Arg1479Ter", "hgvsWellDefined": "XP_016872857.1:p.Arg1479_Phe2041delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569587" }, { "coordinates": [ { "allele": "T", "end": 4853, "referenceAllele": "C", "start": 4852 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017369.1:c.4435C>T" ], "proteinEffect": { "hgvs": "XP_016872858.1:p.Arg1479Ter", "hgvsWellDefined": "XP_016872858.1:p.Arg1479_Phe2034delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569588" }, { "coordinates": [ { "allele": "T", "end": 4853, "referenceAllele": "C", "start": 4852 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017370.1:c.4435C>T" ], "proteinEffect": { "hgvs": "XP_016872859.1:p.Arg1479Ter", "hgvsWellDefined": "XP_016872859.1:p.Arg1479_Phe2033delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569589" }, { "coordinates": [ { "allele": "T", "end": 4775, "referenceAllele": "C", "start": 4774 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017371.1:c.4357C>T" ], "proteinEffect": { "hgvs": "XP_016872860.1:p.Arg1453Ter", "hgvsWellDefined": "XP_016872860.1:p.Arg1453_Phe2016delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569590" }, { "coordinates": [ { "allele": "T", "end": 4715, "referenceAllele": "C", "start": 4714 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017372.1:c.4297C>T" ], "proteinEffect": { "hgvs": "XP_016872861.1:p.Arg1433Ter", "hgvsWellDefined": "XP_016872861.1:p.Arg1433_Phe1996delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569591" }, { "coordinates": [ { "allele": "T", "end": 4651, "referenceAllele": "C", "start": 4650 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017373.2:c.4297C>T" ], "proteinEffect": { "hgvs": "XP_016872862.1:p.Arg1433Ter", "hgvsWellDefined": "XP_016872862.1:p.Arg1433_Phe1996delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569592" }, { "coordinates": [ { "allele": "T", "end": 4448, "referenceAllele": "C", "start": 4447 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017374.1:c.4297C>T" ], "proteinEffect": { "hgvs": "XP_016872863.1:p.Arg1433Ter", "hgvsWellDefined": "XP_016872863.1:p.Arg1433_Phe1996delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569593" }, { "coordinates": [ { "allele": "T", "end": 4575, "referenceAllele": "C", "start": 4574 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017375.2:c.4297C>T" ], "proteinEffect": { "hgvs": "XP_016872864.1:p.Arg1433Ter", "hgvsWellDefined": "XP_016872864.1:p.Arg1433_Phe1996delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569594" }, { "coordinates": [ { "allele": "T", "end": 4706, "referenceAllele": "C", "start": 4705 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017376.1:c.4288C>T" ], "proteinEffect": { "hgvs": "XP_016872865.1:p.Arg1430Ter", "hgvsWellDefined": "XP_016872865.1:p.Arg1430_Phe1993delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569595" }, { "coordinates": [ { "allele": "T", "end": 4810, "referenceAllele": "C", "start": 4809 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017377.2:c.4189C>T" ], "proteinEffect": { "hgvs": "XP_016872866.1:p.Arg1397Ter", "hgvsWellDefined": "XP_016872866.1:p.Arg1397_Phe1960delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569596" }, { "coordinates": [ { "allele": "T", "end": 4496, "referenceAllele": "C", "start": 4495 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017378.1:c.4078C>T" ], "proteinEffect": { "hgvs": "XP_016872867.1:p.Arg1360Ter", "hgvsWellDefined": "XP_016872867.1:p.Arg1360_Phe1923delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569597" }, { "coordinates": [ { "allele": "T", "end": 3167, "referenceAllele": "C", "start": 3166 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017379.1:c.2749C>T" ], "proteinEffect": { "hgvs": "XP_016872868.1:p.Arg917Ter", "hgvsWellDefined": "XP_016872868.1:p.Arg917_Phe1480delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569598" }, { "coordinates": [ { "allele": "T", "end": 2829, "referenceAllele": "C", "start": 2828 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017380.1:c.2749C>T" ], "proteinEffect": { "hgvs": "XP_016872869.1:p.Arg917Ter", "hgvsWellDefined": "XP_016872869.1:p.Arg917_Phe1480delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569599" }, { "coordinates": [ { "allele": "T", "end": 3089, "referenceAllele": "C", "start": 3088 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017381.1:c.2671C>T" ], "proteinEffect": { "hgvs": "XP_016872870.1:p.Arg891Ter", "hgvsWellDefined": "XP_016872870.1:p.Arg891_Phe1454delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569600" }, { "coordinates": [ { "allele": "T", "end": 2751, "referenceAllele": "C", "start": 2750 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017382.1:c.2671C>T" ], "proteinEffect": { "hgvs": "XP_016872871.1:p.Arg891Ter", "hgvsWellDefined": "XP_016872871.1:p.Arg891_Phe1454delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569601" }, { "coordinates": [ { "allele": "T", "end": 3018, "referenceAllele": "C", "start": 3017 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017383.1:c.2611C>T" ], "proteinEffect": { "hgvs": "XP_016872872.1:p.Arg871Ter", "hgvsWellDefined": "XP_016872872.1:p.Arg871_Phe1434delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569602" }, { "coordinates": [ { "allele": "T", "end": 2817, "referenceAllele": "C", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017384.1:c.2611C>T" ], "proteinEffect": { "hgvs": "XP_016872873.1:p.Arg871Ter", "hgvsWellDefined": "XP_016872873.1:p.Arg871_Phe1434delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569603" }, { "coordinates": [ { "allele": "T", "end": 2573, "referenceAllele": "C", "start": 2572 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017385.1:c.2410C>T" ], "proteinEffect": { "hgvs": "XP_016872874.1:p.Arg804Ter", "hgvsWellDefined": "XP_016872874.1:p.Arg804_Phe1367delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569604" }, { "coordinates": [ { "allele": "T", "end": 2733, "referenceAllele": "C", "start": 2732 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017386.1:c.2326C>T" ], "proteinEffect": { "hgvs": "XP_016872875.1:p.Arg776Ter", "hgvsWellDefined": "XP_016872875.1:p.Arg776_Phe1339delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569605" }, { "coordinates": [ { "allele": "T", "end": 4853, "referenceAllele": "C", "start": 4852 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_001747793.1:n.4853C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595910" }, { "coordinates": [ { "allele": "T", "end": 4853, "referenceAllele": "C", "start": 4852 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_001747794.1:n.4853C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595911" }, { "coordinates": [ { "allele": "T", "end": 4853, "referenceAllele": "C", "start": 4852 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_002957132.1:n.4853C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603268" }, { "coordinates": [ { "allele": "T", "end": 4793, "referenceAllele": "C", "start": 4792 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_002957133.1:n.4793C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603269" }, { "coordinates": [ { "allele": "T", "end": 4655, "referenceAllele": "C", "start": 4654 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_428971.3:n.4655C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606619" }, { "@id": "http://reg.genome.network/allele/PA891847994", "coordinates": [ { "allele": "T", "end": 2837, "referenceAllele": "C", "start": 2836 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_014956.5:c.2689C>T" ], "proteinEffect": { "hgvs": "NP_055771.4:p.Arg897Ter", "hgvsWellDefined": "NP_055771.4:p.Arg897_Phe1460delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisArgGluTrpTrpArgGlnGlnArgIleAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668576", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000278935.8:c.2689C>T" }, "RefSeq": { "hgvs": "NM_014956.5:c.2689C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000278935.3:p.Arg897Ter" }, "RefSeq": { "hgvs": "NP_055771.4:p.Arg897Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916005183", "coordinates": [ { "allele": "T", "end": 2779, "referenceAllele": "C", "start": 2778 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_001271933.2:c.2698C>T" ], "proteinEffect": { "hgvs": "NP_001258862.1:p.Arg900Ter", "hgvsWellDefined": "NP_001258862.1:p.Arg900_Phe1455delinsGluLeuGluThrValArgGlnGluGlnHisLysArgLeuGluAspLeuArgArgArgHisArgGluGlnGluArgLysLeuGlnAspLeuGluLeuAspLeuGluThrArgAlaLysAspValLysAlaArgLeuAlaLeuLeuGluValGlnGluGluThrAlaArgArgGluLysGlnGlnLeuLeuAspValGlnArgGlnValAlaLeuLysSerGluGluAlaThrAlaThrHisGlnGlnLeuGluGluAlaGlnLysGluHisThrHisLeuLeuGlnSerAsnGlnGlnLeuArgGluIleLeuAspGluLeuGlnAlaArgLysLeuLysLeuGluSerGlnValAspLeuLeuGlnAlaGlnSerGlnGlnLeuGlnLysHisPheSerSerLeuGluAlaGluAlaGlnLysLysGlnHisLeuLeuArgGluValThrValGluGluAsnAsnAlaSerProHisPheGluProAspLeuHisIleGluAspLeuArgLysSerLeuGlyThrAsnGlnThrLysGluValSerSerSerLeuSerGlnSerLysGluAspLeuTyrLeuAspSerLeuSerSerHisAsnValTrpHisLeuLeuSerAlaGluGlyValAlaLeuArgSerAlaLysGluPheLeuValGlnGlnThrArgSerMetArgArgArgGlnThrAlaLeuLysAlaAlaGlnGlnHisTrpArgHisGluLeuAlaSerAlaGlnGluValAlaLysAspProProGlyIleLysAlaLeuGluAspMetArgLysAsnLeuGluLysGluThrArgHisLeuAspGluMetLysSerAlaMetArgLysGlyHisAsnLeuLeuLysLysLysGluGluLysLeuAsnGlnLeuGluSerSerLeuTrpGluGluAlaSerAspGluGlyThrLeuGlyGlySerProThrLysLysAlaValThrPheAspLeuSerAspMetAspSerLeuSerSerGluSerSerGluSerPheSerProProHisLeuAspSerThrProSerLeuThrSerArgLysIleHisGlyLeuSerHisSerLeuArgGlnIleSerSerGlnLeuSerSerValLeuSerIleLeuAspSerLeuAsnProGlnSerProProProLeuLeuAlaSerMetProAlaGlnLeuProProArgAspProLysSerThrProThrProThrTyrTyrGlySerLeuAlaArgPheSerAlaLeuSerSerAlaThrProThrSerThrGlnTrpAlaTrpAspSerGlyGlnGlyProArgLeuProSerSerValAlaGlnThrValAspAspPheLeuLeuGluLysTrpArgLysTyrPheProSerGlyIleProLeuLeuSerAsnSerProThrProLeuGluSerArgLeuGlyTyrMetSerAlaSerGluGlnLeuArgLeuLeuGlnHisSerHisSerGlnValProGluAlaGlySerThrThrPheGlnGlyIleIleGluAlaAsnArgArgTrpLeuGluArgValLysAsnAspProArgLeuProLeuPheSerSerThrProLysProLysAlaThrLeuSerLeuLeuGlnLeuGlyLeuAspGluHisAsnArgValLysValTyrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715320" } ], "type": "nucleotide" }