{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351420", "communityStandardTitle": [ "NM_014704.4(CEP104):c.496C>T (p.Arg166Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=222987[alleleid]", "alleleId": 222987, "preferredName": "NM_014704.4(CEP104):c.496C>T (p.Arg166Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/221276", "RCV": [ "RCV000207197" ], "variationId": 221276 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-3761541-G-A", "id": "1-3761541-G-A", "variant": "1:3761541 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.3761541G>A?assembly=hg19", "id": "chr1:g.3761541G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.3844977G>A?assembly=hg38", "id": "chr1:g.3844977G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/374574638", "rs": 374574638 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-3761541-G-A?dataset=gnomad_r2_1", "id": "1-3761541-G-A", "variant": "1:3761541 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-3844977-G-A?dataset=gnomad_r3", "id": "1-3844977-G-A", "variant": "1:3844977 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-3844977-G-A?dataset=gnomad_r4", "id": "1-3844977-G-A", "variant": "1:3844977 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 3844977, "referenceAllele": "G", "start": 3844976 } ], "hgvs": [ "NC_000001.11:g.3844977G>A", "CM000663.2:g.3844977G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 3761541, "referenceAllele": "G", "start": 3761540 } ], "hgvs": [ "NC_000001.10:g.3761541G>A", "CM000663.1:g.3761541G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 3751401, "referenceAllele": "G", "start": 3751400 } ], "hgvs": [ "NC_000001.9:g.3751401G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 17257, "referenceAllele": "C", "start": 17256 } ], "hgvs": [ "NG_046726.1:g.17257C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616393" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000378230.8:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000367476.3:p.Arg166Ter", "hgvsWellDefined": "ENSP00000367476.3:p.Arg166_Arg925delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752056", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378230.8:c.496C>T" }, "RefSeq": { "hgvs": "NM_014704.4:c.496C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367476.3:p.Arg166Ter" }, "RefSeq": { "hgvs": "NP_055519.1:p.Arg166Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000428079.6:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000394989.2:p.Arg166Ter", "hgvsWellDefined": "ENSP00000394989.2:p.Arg166_Arg893delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyGluGlyGlnArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755206" }, { "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000461667.2:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000463605.2:p.Arg166Ter", "hgvsWellDefined": "ENSP00000463605.2:p.Arg166_Gln866delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluValArgGlyLeuGlyArgArgAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756718" }, { "coordinates": [ { "allele": "T", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000674544.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000502641.1:p.Arg108Ter", "hgvsWellDefined": "ENSP00000502641.1:p.Arg108_Arg867delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774496" }, { "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000674558.1:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000501829.1:p.Arg166Ter", "hgvsWellDefined": "ENSP00000501829.1:p.Arg166_Arg925delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774508" }, { "coordinates": [ { "allele": "T", "end": 961, "referenceAllele": "C", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000674623.1:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000501733.1:p.Arg166Ter", "hgvsWellDefined": "ENSP00000501733.1:p.Arg166_Arg925delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774563" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000674879.1:n.833C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774775" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000674985.1:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000502482.1:p.Arg166Ter", "hgvsWellDefined": "ENSP00000502482.1:p.Arg166_Arg381delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnValGlyArgValProAlaLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774867" }, { "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000675108.1:c.*412C>T" ], "proteinEffect": { "hgvs": "ENSP00000502131.1:n.*412C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774975" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000675200.1:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000502512.1:p.Arg166Ter", "hgvsWellDefined": "ENSP00000502512.1:p.Arg166_Val677delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnLeuSerSerHisLeuGlnArgGlnArgArgLysIleSerLeuThrIleLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775054" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000675334.1:n.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775166" }, { "coordinates": [ { "allele": "T", "end": 847, "referenceAllele": "C", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000675375.1:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000502180.1:p.Arg166Ter", "hgvsWellDefined": "ENSP00000502180.1:p.Arg166_Arg867delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775205" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000675520.1:n.833C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775329" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000675666.1:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000502548.1:p.Arg166Ter", "hgvsWellDefined": "ENSP00000502548.1:p.Arg166_Ser964delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnArgMetGluSerSerProAspGlyProSerArgLeuHisAspGluProAlaGlnAspThrHisSerAlaGluGlyProGlyThrAlaAlaArgGluLysLeuSerCysGlyArgIleArgProLeuGlyValLysGlyArgLysGlnAspProHisProGluGlyArgThrGluGlnGluLeuGlnGlnAspValArgGlnAlaLeuThrArgArgSerGlySerLeuValSerValArgAspGlyAlaGlyLeuLeuIleLeuHisHisLeuSerArgThrLeuTrpProTrpTrpProHisAlaLeuAlaAlaValProSerSerProProCysThrProLeuThrArgLeuCysArgGlnLeuSerCysLysArgTyrGlyCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775455" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000675677.1:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000501944.1:p.Arg166Ter", "hgvsWellDefined": "ENSP00000501944.1:p.Arg166_Arg859delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775463" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000675750.1:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000502342.1:p.Arg166Ter", "hgvsWellDefined": "ENSP00000502342.1:p.Arg166_Pro194delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgValPheLysSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775528" }, { "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000675966.1:n.724C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775714" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000676009.1:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000502246.1:p.Arg166Ter", "hgvsWellDefined": "ENSP00000502246.1:p.Arg166_Ile737delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnThrPheLysGluGlyLysGlnProLeuLeuLysLeuTrpGluSerArgMetSerThrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775751" }, { "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000676052.1:c.514C>T" ], "proteinEffect": { "hgvs": "ENSP00000502793.1:p.Arg172Ter", "hgvsWellDefined": "ENSP00000502793.1:p.Arg172_Arg931delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775790" }, { "coordinates": [ { "allele": "T", "end": 836, "referenceAllele": "C", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000378223.3:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000367468.3:p.Arg166Ter", "hgvsWellDefined": "ENSP00000367468.3:p.Arg166_Val244delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaSerSerValArgThrGlyGlyGluSerThrPheGlyGluLeuLysGlyProAlaValProSerSerValThrLeuSerValLeuGlyThrSerLeuGlyGlnTrpPheProCysHisLeuProAlaValAspAspAsnGluGlyThrProPheGlnArgCysLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271942" }, { "coordinates": [ { "allele": "T", "end": 821, "referenceAllele": "C", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000378230.7:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000367476.3:p.Arg166Ter", "hgvsWellDefined": "ENSP00000367476.3:p.Arg166_Arg925delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271946" }, { "coordinates": [ { "allele": "T", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000428079.5:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000394989.1:p.Arg108Ter", "hgvsWellDefined": "ENSP00000394989.1:p.Arg108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS290024" }, { "coordinates": [ { "allele": "T", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000494653.5:n.820C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331529" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "ENST00000494951.1:n.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331759" }, { "@id": "http://reg.genome.network/allele/PA351421", "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "NM_014704.3:c.496C>T" ], "proteinEffect": { "hgvs": "NP_055519.1:p.Arg166Ter", "hgvsWellDefined": "NP_055519.1:p.Arg166_Arg925delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033389" }, { "coordinates": [ { "allele": "T", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_005244815.3:c.604C>T" ], "proteinEffect": { "hgvs": "XP_005244872.1:p.Arg202Ter", "hgvsWellDefined": "XP_005244872.1:p.Arg202_Arg961delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057000" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_011542473.1:c.622C>T" ], "proteinEffect": { "hgvs": "XP_011540775.1:p.Arg208Ter", "hgvsWellDefined": "XP_011540775.1:p.Arg208_Arg967delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109404" }, { "coordinates": [ { "allele": "T", "end": 1021, "referenceAllele": "C", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_011542474.1:c.514C>T" ], "proteinEffect": { "hgvs": "XP_011540776.1:p.Arg172Ter", "hgvsWellDefined": "XP_011540776.1:p.Arg172_Arg931delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109405" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_011542475.1:c.622C>T" ], "proteinEffect": { "hgvs": "XP_011540777.1:p.Arg208Ter", "hgvsWellDefined": "XP_011540777.1:p.Arg208_Arg909delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109406" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_011542476.1:c.622C>T" ], "proteinEffect": { "hgvs": "XP_011540778.1:p.Arg208Ter", "hgvsWellDefined": "XP_011540778.1:p.Arg208_Arg901delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109407" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_011542477.1:c.622C>T" ], "proteinEffect": { "hgvs": "XP_011540779.1:p.Arg208Ter", "hgvsWellDefined": "XP_011540779.1:p.Arg208_Arg843delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109408" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_011542478.1:c.622C>T" ], "proteinEffect": { "hgvs": "XP_011540780.1:p.Arg208Ter", "hgvsWellDefined": "XP_011540780.1:p.Arg208_Val777delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnLeuSerSerHisLeuGlnArgGlnArgArgLysIleSerLeuThrIleLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109409" }, { "coordinates": [ { "allele": "T", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_005244815.4:c.604C>T" ], "proteinEffect": { "hgvs": "XP_005244872.1:p.Arg202Ter", "hgvsWellDefined": "XP_005244872.1:p.Arg202_Arg961delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532308" }, { "coordinates": [ { "allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_011542474.3:c.514C>T" ], "proteinEffect": { "hgvs": "XP_011540776.1:p.Arg172Ter", "hgvsWellDefined": "XP_011540776.1:p.Arg172_Arg931delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554806" }, { "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_017002918.2:c.496C>T" ], "proteinEffect": { "hgvs": "XP_016858407.1:p.Arg166Ter", "hgvsWellDefined": "XP_016858407.1:p.Arg166_Arg867delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558787" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_017002919.2:c.496C>T" ], "proteinEffect": { "hgvs": "XP_016858408.1:p.Arg166Ter", "hgvsWellDefined": "XP_016858408.1:p.Arg166_Arg859delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558788" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_024451101.1:c.622C>T" ], "proteinEffect": { "hgvs": "XP_024306869.1:p.Arg208Ter", "hgvsWellDefined": "XP_024306869.1:p.Arg208_Arg967delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584621" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_024451102.1:c.622C>T" ], "proteinEffect": { "hgvs": "XP_024306870.1:p.Arg208Ter", "hgvsWellDefined": "XP_024306870.1:p.Arg208_Arg909delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584622" }, { "coordinates": [ { "allele": "T", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_024451103.1:c.604C>T" ], "proteinEffect": { "hgvs": "XP_024306871.1:p.Arg202Ter", "hgvsWellDefined": "XP_024306871.1:p.Arg202_Arg903delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584623" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_024451104.1:c.622C>T" ], "proteinEffect": { "hgvs": "XP_024306872.1:p.Arg208Ter", "hgvsWellDefined": "XP_024306872.1:p.Arg208_Arg901delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584624" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_024451106.1:c.622C>T" ], "proteinEffect": { "hgvs": "XP_024306874.1:p.Arg208Ter", "hgvsWellDefined": "XP_024306874.1:p.Arg208_Arg843delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584626" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "XM_024451108.1:c.622C>T" ], "proteinEffect": { "hgvs": "XP_024306876.1:p.Arg208Ter", "hgvsWellDefined": "XP_024306876.1:p.Arg208_Val777delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnLeuSerSerHisLeuGlnArgGlnArgArgLysIleSerLeuThrIleLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584628" }, { "@id": "http://reg.genome.network/allele/PA351421", "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN024866", "geneNCBI_id": 9731, "geneSymbol": "CEP104", "hgvs": [ "NM_014704.4:c.496C>T" ], "proteinEffect": { "hgvs": "NP_055519.1:p.Arg166Ter", "hgvsWellDefined": "NP_055519.1:p.Arg166_Arg925delinsGluLysLeuIleAspHisTyrLeuGlyHisAsnSerGluAspProAlaLeuGluGlyThrTyrAlaArgLysSerAspTyrIleSerProLeuAspAspLeuAlaPheAspMetTyrGlnAspProGluValAlaGlnIleIleArgLysLeuAspGluArgLysArgGluAlaValGlnLysGluArgTyrAspTyrAlaLysLysLeuLysGlnAlaIleAlaAspLeuGlnLysValGlyGluArgLeuGlyArgTyrGluValGluLysArgCysAlaValGluLysGluAspTyrAspLeuAlaLysGluLysLysGlnGlnMetGluGlnTyrArgAlaGluValTyrGluGlnLeuGluLeuHisSerLeuLeuAspAlaGluLeuMetArgArgProPheAspLeuProLeuGlnProLeuAlaArgSerGlySerProCysHisGlnLysProMetProSerLeuProGlnLeuGluGluArgGlyThrGluAsnGlnPheAlaGluProPheLeuGlnGluLysProSerSerTyrSerLeuThrIleSerProGlnHisSerAlaValAspProLeuLeuProAlaThrAspProHisProLysIleAsnAlaGluSerLeuProTyrAspGluArgProLeuProAlaIleArgLysHisTyrGlyGluAlaValValGluProGluMetSerAsnAlaAspIleSerAspAlaArgArgGlyGlyMetLeuGlyGluProGluProLeuThrGluLysAlaLeuArgGluAlaSerSerAlaIleAspValLeuGlyGluThrLeuValAlaGluAlaTyrCysLysThrTrpSerTyrArgGluAspAlaLeuLeuAlaLeuSerLysLysLeuMetGluMetProValGlyThrProLysGluAspLeuLysAsnThrLeuArgAlaSerValPheLeuValArgArgAlaIleLysAspIleValThrSerValPheGlnAlaSerLeuLysLeuLeuLysMetIleIleThrGlnTyrIleProLysHisLysLeuSerLysLeuGluThrAlaHisCysValGluArgThrIleProValLeuLeuThrArgThrGlyAspSerSerAlaArgLeuArgValThrAlaAlaAsnPheIleGlnGluMetAlaLeuPheLysGluValLysSerLeuGlnIleIleProSerTyrLeuValGlnProLeuLysAlaAsnSerSerValHisLeuAlaMetSerGlnMetGlyLeuLeuAlaArgLeuLeuLysAspLeuGlyThrGlySerSerGlyPheThrIleAspAsnValMetLysPheSerValSerAlaLeuGluHisArgValTyrGluValArgGluThrAlaValArgIleIleLeuAspMetTyrArgGlnHisGlnAlaSerIleLeuGluTyrLeuProProAspAspSerAsnThrArgArgAsnIleLeuTyrLysThrIlePheGluGlyPheAlaLysIleAspGlyArgAlaThrAspAlaGluMetArgAlaArgArgLysAlaAlaThrGluGluAlaGluLysGlnLysLysGluGluIleLysAlaLeuGlnGlyGlnLeuAlaAlaLeuLysGluIleGlnAlaGluValGlnGluLysGluSerAspAlaValLysProLysAsnGlnAspIleGlnGlyGlyLysAlaAlaProAlaGluAlaLeuGlyIleProAspGluHisTyrLeuAspAsnLeuCysIlePheCysGlyGluArgSerGluSerPheThrGluGluGlyLeuAspLeuHisTyrTrpLysHisCysLeuMetLeuThrArgCysAspHisCysLysGlnValValGluIleSerSerLeuThrGluHisLeuLeuThrGluCysAspLysLysAspGlyPheGlyLysCysTyrArgCysSerGluAlaValPheLysGluGluLeuProArgHisIleLysHisLysAspCysAsnProAlaLysProGluLysLeuAlaAsnArgCysProLeuCysHisGluAsnPheSerProGlyGluGluAlaTrpLysAlaHisLeuMetGlyProAlaGlyCysThrMetAsnLeuArgLysThrHisIleLeuGlnLysAlaProAlaLeuGlnProGlyLysSerSerAlaValAlaAlaSerGlyProLeuGlySerLysAlaGlySerLysIleProThrProLysGlyGlyLeuSerLysSerSerSerArgThrTyrAlaLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378230.8:c.496C>T" }, "RefSeq": { "hgvs": "NM_014704.4:c.496C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367476.3:p.Arg166Ter" }, "RefSeq": { "hgvs": "NP_055519.1:p.Arg166Ter" } } } } ], "type": "nucleotide" }