{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA163256", "communityStandardTitle": [ "NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=143189[alleleid]", "alleleId": 143189, "preferredName": "NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/139545", "RCV": [ "RCV000128444", "RCV001528375" ], "variationId": 139545 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-94772743-G-A", "id": "12-94772743-G-A", "variant": "12:94772743 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.94772743G>A?assembly=hg19", "id": "chr12:g.94772743G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.94378967G>A?assembly=hg38", "id": "chr12:g.94378967G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/369483167", "rs": 369483167 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-94772743-G-A?dataset=gnomad_r2_1", "id": "12-94772743-G-A", "variant": "12:94772743 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-94378967-G-A?dataset=gnomad_r3", "id": "12-94378967-G-A", "variant": "12:94378967 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-94378967-G-A?dataset=gnomad_r4", "id": "12-94378967-G-A", "variant": "12:94378967 G / A" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 94378967, "referenceAllele": "G", "start": 94378966 } ], "hgvs": [ "NC_000012.12:g.94378967G>A", "CM000674.2:g.94378967G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 94772743, "referenceAllele": "G", "start": 94772742 } ], "hgvs": [ "NC_000012.11:g.94772743G>A", "CM000674.1:g.94772743G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 93296874, "referenceAllele": "G", "start": 93296873 } ], "hgvs": [ "NC_000012.10:g.93296874G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 86022, "referenceAllele": "C", "start": 86021 } ], "hgvs": [ "NG_051825.1:g.86022C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617076" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1090, "referenceAllele": "C", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "ENST00000397809.10:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000380911.4:p.Arg209Ter", "hgvsWellDefined": "ENSP00000380911.4:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753689", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397809.10:c.625C>T" }, "RefSeq": { "hgvs": "NM_016122.3:c.625C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380911.4:p.Arg209Ter" }, "RefSeq": { "hgvs": "NP_057206.2:p.Arg209Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1116, "referenceAllele": "C", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "ENST00000339839.9:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000344655.5:p.Arg209Ter", "hgvsWellDefined": "ENSP00000344655.5:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260957" }, { "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "ENST00000397807.6:c.238C>T" ], "proteinEffect": { "hgvs": "ENSP00000380909.3:p.Arg80Ter", "hgvsWellDefined": "ENSP00000380909.3:p.Arg80_Ser472delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluIleArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277991" }, { "coordinates": [ { "allele": "T", "end": 1175, "referenceAllele": "C", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "ENST00000397809.9:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000380911.4:p.Arg209Ter", "hgvsWellDefined": "ENSP00000380911.4:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277992" }, { "coordinates": [ { "allele": "T", "end": 761, "referenceAllele": "C", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "ENST00000547232.5:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000447783.1:p.Arg176Ter", "hgvsWellDefined": "ENSP00000447783.1:p.Arg176_Lys568delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysLeuGluGlnAspLeuGluLeuGlyCysProSerValThrAspThrTyrArgGluSerValPheProProProProLeuLysArgAspLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS366154" }, { "coordinates": [ { "allele": "T", "end": 1175, "referenceAllele": "C", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "ENST00000547575.5:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000448913.1:p.Arg209Ter", "hgvsWellDefined": "ENSP00000448913.1:p.Arg209_Met352delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS366363" }, { "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "ENST00000549352.1:n.469C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS367411" }, { "coordinates": [ { "allele": "T", "end": 348, "referenceAllele": "C", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "ENST00000551250.1:n.348C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS368553" }, { "@id": "http://reg.genome.network/allele/PA163257", "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001042399.1:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001035858.1:p.Arg209Ter", "hgvsWellDefined": "NP_001035858.1:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009668" }, { "@id": "http://reg.genome.network/allele/PA163258", "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_016122.2:c.625C>T" ], "proteinEffect": { "hgvs": "NP_057206.2:p.Arg209Ter", "hgvsWellDefined": "NP_057206.2:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034457" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_005268942.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_005268999.1:p.Arg209Ter", "hgvsWellDefined": "XP_005268999.1:p.Arg209_Asp617delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgSerLeuSerHisThrArgCysLeuProTyrAspTrpAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065935" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_006719437.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_006719500.1:p.Arg209Ter", "hgvsWellDefined": "XP_006719500.1:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073125" }, { "coordinates": [ { "allele": "T", "end": 1257, "referenceAllele": "C", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_011538424.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011536726.1:p.Arg209Ter", "hgvsWellDefined": "XP_011536726.1:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105380" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_011538425.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011536727.1:p.Arg209Ter", "hgvsWellDefined": "XP_011536727.1:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105381" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_011538426.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011536728.1:p.Arg209Ter", "hgvsWellDefined": "XP_011536728.1:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105382" }, { "coordinates": [ { "allele": "T", "end": 977, "referenceAllele": "C", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_011538427.1:c.313C>T" ], "proteinEffect": { "hgvs": "XP_011536729.1:p.Arg105Ter", "hgvsWellDefined": "XP_011536729.1:p.Arg105_Glu597delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105383" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_011538428.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536730.1:p.Arg80Ter", "hgvsWellDefined": "XP_011536730.1:p.Arg80_Glu572delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105384" }, { "coordinates": [ { "allele": "T", "end": 1226, "referenceAllele": "C", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_011538429.1:c.211C>T" ], "proteinEffect": { "hgvs": "XP_011536731.1:p.Arg71Ter", "hgvsWellDefined": "XP_011536731.1:p.Arg71_Glu563delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105385" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_011538430.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011536732.1:p.Arg209Ter", "hgvsWellDefined": "XP_011536732.1:p.Arg209_Lys526delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105386" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XR_944562.1:n.1152C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138496" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XR_944563.1:n.1152C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138497" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XR_944564.1:n.1152C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138498" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XR_944565.1:n.1152C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138499" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XR_944566.1:n.1152C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138500" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XR_944567.1:n.1152C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138501" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XR_944568.1:n.1152C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138502" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XR_944569.1:n.1152C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138503" }, { "@id": "http://reg.genome.network/allele/PA2827373322", "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001346457.1:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001333386.1:p.Arg209Ter", "hgvsWellDefined": "NP_001333386.1:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517551" }, { "@id": "http://reg.genome.network/allele/PA2827373616", "coordinates": [ { "allele": "T", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001346458.1:c.313C>T" ], "proteinEffect": { "hgvs": "NP_001333387.1:p.Arg105Ter", "hgvsWellDefined": "NP_001333387.1:p.Arg105_Glu597delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517552" }, { "@id": "http://reg.genome.network/allele/PA2827373911", "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001346459.1:c.313C>T" ], "proteinEffect": { "hgvs": "NP_001333388.1:p.Arg105Ter", "hgvsWellDefined": "NP_001333388.1:p.Arg105_Glu597delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517553" }, { "@id": "http://reg.genome.network/allele/PA2827374246", "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001346460.1:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001333389.1:p.Arg209Ter", "hgvsWellDefined": "NP_001333389.1:p.Arg209_Met352delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517554" }, { "@id": "http://reg.genome.network/allele/PA2827374423", "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001346461.1:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001333390.1:p.Arg209Ter", "hgvsWellDefined": "NP_001333390.1:p.Arg209_Met352delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517555" }, { "@id": "http://reg.genome.network/allele/PA2827374557", "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001346462.1:c.313C>T" ], "proteinEffect": { "hgvs": "NP_001333391.1:p.Arg105Ter", "hgvsWellDefined": "NP_001333391.1:p.Arg105_Met248delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517556" }, { "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NR_144441.1:n.1096C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS529409" }, { "coordinates": [ { "allele": "T", "end": 1890, "referenceAllele": "C", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_011538424.2:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011536726.1:p.Arg209Ter", "hgvsWellDefined": "XP_011536726.1:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553285" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_017019385.2:c.625C>T" ], "proteinEffect": { "hgvs": "XP_016874874.1:p.Arg209Ter", "hgvsWellDefined": "XP_016874874.1:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571108" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_017019386.2:c.625C>T" ], "proteinEffect": { "hgvs": "XP_016874875.1:p.Arg209Ter", "hgvsWellDefined": "XP_016874875.1:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571109" }, { "coordinates": [ { "allele": "T", "end": 2827, "referenceAllele": "C", "start": 2826 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_017019388.1:c.256C>T" ], "proteinEffect": { "hgvs": "XP_016874877.1:p.Arg86Ter", "hgvsWellDefined": "XP_016874877.1:p.Arg86_Glu578delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571110" }, { "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "C", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_017019389.2:c.238C>T" ], "proteinEffect": { "hgvs": "XP_016874878.1:p.Arg80Ter", "hgvsWellDefined": "XP_016874878.1:p.Arg80_Glu572delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571111" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_024449002.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_024304770.1:p.Arg209Ter", "hgvsWellDefined": "XP_024304770.1:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582564" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_024449003.1:c.256C>T" ], "proteinEffect": { "hgvs": "XP_024304771.1:p.Arg86Ter", "hgvsWellDefined": "XP_024304771.1:p.Arg86_Glu578delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582565" }, { "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_024449004.1:c.256C>T" ], "proteinEffect": { "hgvs": "XP_024304772.1:p.Arg86Ter", "hgvsWellDefined": "XP_024304772.1:p.Arg86_Glu578delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582566" }, { "coordinates": [ { "allele": "T", "end": 1860, "referenceAllele": "C", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "XM_024449005.1:c.211C>T" ], "proteinEffect": { "hgvs": "XP_024304773.1:p.Arg71Ter", "hgvsWellDefined": "XP_024304773.1:p.Arg71_Glu563delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS691312" }, { "@id": "http://reg.genome.network/allele/PA2828278284", "coordinates": [ { "allele": "T", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001368038.1:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001354967.1:p.Arg209Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS691313" }, { "@id": "http://reg.genome.network/allele/PA2828278579", "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001368039.1:c.313C>T" ], "proteinEffect": { "hgvs": "NP_001354968.1:p.Arg105Ter", "hgvsWellDefined": "NP_001354968.1:p.Arg105_Glu597delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691314" }, { "@id": "http://reg.genome.network/allele/PA2828278832", "coordinates": [ { "allele": "T", "end": 782, "referenceAllele": "C", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001368040.1:c.313C>T" ], "proteinEffect": { "hgvs": "NP_001354969.1:p.Arg105Ter", "hgvsWellDefined": "NP_001354969.1:p.Arg105_Glu597delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691315" }, { "@id": "http://reg.genome.network/allele/PA2828279123", "coordinates": [ { "allele": "T", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001368041.1:c.400C>T" ], "proteinEffect": { "hgvs": "NP_001354970.1:p.Arg134Ter", "hgvsWellDefined": "NP_001354970.1:p.Arg134_Glu626delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691316" }, { "@id": "http://reg.genome.network/allele/PA916047092", "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001368042.1:c.88C>T" ], "proteinEffect": { "hgvs": "NP_001354971.1:p.Arg30Ter", "hgvsWellDefined": "NP_001354971.1:p.Arg30_Met173delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691317" }, { "@id": "http://reg.genome.network/allele/PA163258", "coordinates": [ { "allele": "T", "end": 1090, "referenceAllele": "C", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_016122.3:c.625C>T" ], "proteinEffect": { "hgvs": "NP_057206.2:p.Arg209Ter", "hgvsWellDefined": "NP_057206.2:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697666", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397809.10:c.625C>T" }, "RefSeq": { "hgvs": "NM_016122.3:c.625C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380911.4:p.Arg209Ter" }, "RefSeq": { "hgvs": "NP_057206.2:p.Arg209Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "C", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NR_144441.2:n.975C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704139" }, { "coordinates": [ { "allele": "T", "end": 891, "referenceAllele": "C", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NR_160431.1:n.891C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705072" }, { "coordinates": [ { "allele": "T", "end": 1378, "referenceAllele": "C", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NR_160432.1:n.1378C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705073" }, { "@id": "http://reg.genome.network/allele/PA163257", "coordinates": [ { "allele": "T", "end": 1037, "referenceAllele": "C", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001042399.2:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001035858.1:p.Arg209Ter", "hgvsWellDefined": "NP_001035858.1:p.Arg209_Glu701delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711680" }, { "@id": "http://reg.genome.network/allele/PA2827373616", "coordinates": [ { "allele": "T", "end": 891, "referenceAllele": "C", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001346458.2:c.313C>T" ], "proteinEffect": { "hgvs": "NP_001333387.1:p.Arg105Ter", "hgvsWellDefined": "NP_001333387.1:p.Arg105_Glu597delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718942" }, { "@id": "http://reg.genome.network/allele/PA2827373911", "coordinates": [ { "allele": "T", "end": 838, "referenceAllele": "C", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN017966", "geneNCBI_id": 51134, "geneSymbol": "CEP83", "hgvs": [ "NM_001346459.2:c.313C>T" ], "proteinEffect": { "hgvs": "NP_001333388.1:p.Arg105Ter", "hgvsWellDefined": "NP_001333388.1:p.Arg105_Glu597delinsValGluGlnLeuAlaArgGluLysValTyrLeuCysGlnLysLeuLysGlyLeuGluAlaGluValAlaGluLeuLysAlaGluLysGluAsnSerGluAlaGlnValGluAsnAlaGlnArgIleGlnValArgGlnLeuAlaGluMetGlnAlaThrValArgSerLeuGluAlaGluLysGlnSerAlaAsnLeuArgAlaGluArgLeuGluLysGluLeuGlnSerSerSerGluGlnAsnThrPheLeuIleAsnLysLeuHisLysAlaGluArgGluIleAsnThrLeuSerSerLysValLysGluLeuLysHisSerAsnLysLeuGluIleThrAspIleLysLeuGluThrAlaArgAlaLysSerGluLeuGluArgGluArgAsnLysIleGlnSerGluLeuAspGlyLeuGlnSerAspAsnGluIleLeuLysAlaAlaValGluHisHisLysValLeuLeuValGluLysAspArgGluLeuIleArgLysValGlnAlaAlaLysGluGluGlyTyrGlnLysLeuValValLeuGlnAspGluLysLeuGluLeuGluAsnArgLeuAlaAspLeuGluLysMetLysValGluHisAspValTrpArgGlnSerGluLysAspGlnTyrGluGluLysLeuArgAlaSerGlnMetAlaGluGluIleThrArgLysGluLeuGlnSerValArgLeuLysLeuGlnGlnGlnIleValThrIleGluAsnAlaGluLysGluLysAsnGluAsnSerAspLeuLysGlnGlnIleSerSerLeuGlnIleGlnValThrSerLeuAlaGlnSerGluAsnAspLeuLeuAsnSerAsnGlnMetLeuLysGluMetValGluArgLeuLysGlnGluCysArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718943" } ], "type": "nucleotide" }