{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA251751", "communityStandardTitle": [ "NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16378[alleleid]", "alleleId": 16378, "preferredName": "NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1339", "RCV": [ "RCV000001402", "RCV000001403", "RCV000415120", "RCV000415219", "RCV000484693", "RCV000508230", "RCV000763312", "RCV001046610", "RCV001002715", "RCV001075829", "RCV001831504", "RCV003466778", "RCV003155008", "RCV003492281" ], "variationId": 1339 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-88477713-T-A", "id": "12-88477713-T-A", "variant": "12:88477713 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88477713T>A?assembly=hg19", "id": "chr12:g.88477713T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88083936T>A?assembly=hg38", "id": "chr12:g.88083936T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137852834", "rs": 137852834 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88477713-T-A?dataset=gnomad_r2_1", "id": "12-88477713-T-A", "variant": "12:88477713 T / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88083936-T-A?dataset=gnomad_r3", "id": "12-88083936-T-A", "variant": "12:88083936 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88083936-T-A?dataset=gnomad_r4", "id": "12-88083936-T-A", "variant": "12:88083936 T / A" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 88083936, "referenceAllele": "T", "start": 88083935 } ], "hgvs": [ "NC_000012.12:g.88083936T>A", "CM000674.2:g.88083936T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 88477713, "referenceAllele": "T", "start": 88477712 } ], "hgvs": [ "NC_000012.11:g.88477713T>A", "CM000674.1:g.88477713T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 87001844, "referenceAllele": "T", "start": 87001843 } ], "hgvs": [ "NC_000012.10:g.87001844T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 63281, "referenceAllele": "A", "start": 63280 } ], "hgvs": [ "NG_008417.1:g.63281A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001089" }, { "coordinates": [ { "allele": "T", "end": 63281, "referenceAllele": "A", "start": 63280 } ], "hgvs": [ "NG_008417.2:g.63281A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706085" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4950, "referenceAllele": "A", "start": 4949 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.12:c.4723A>T" ], "proteinEffect": { "hgvs": "ENSP00000308021.8:p.Lys1575Ter", "hgvsWellDefined": "ENSP00000308021.8:p.Lys1576_Tyr2482delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745510" }, { "coordinates": [ { "allele": "T", "end": 2007, "referenceAllele": "A", "start": 2006 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547691.8:c.2007A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759881" }, { "coordinates": [ { "allele": "T", "end": 4939, "referenceAllele": "A", "start": 4938 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.6:c.4723A>T" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Lys1575Ter", "hgvsWellDefined": "ENSP00000448012.1:p.Lys1576_Tyr2479delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.4723A>T" }, "RefSeq": { "hgvs": "NM_025114.4:c.4723A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Lys1575Ter" }, "RefSeq": { "hgvs": "NP_079390.3:p.Lys1575Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4837, "referenceAllele": "A", "start": 4836 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000672414.2:c.*2894A>T" ], "proteinEffect": { "hgvs": "ENSP00000500729.1:n.*2894A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773378" }, { "coordinates": [ { "allele": "T", "end": 3083, "referenceAllele": "A", "start": 3082 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000672647.1:n.3083A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773444" }, { "coordinates": [ { "allele": "T", "end": 4950, "referenceAllele": "A", "start": 4949 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000673058.2:c.4723A>T" ], "proteinEffect": { "hgvs": "ENSP00000500665.2:p.Lys1575Ter", "hgvsWellDefined": "ENSP00000500665.2:p.Lys1576_Tyr2438delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773585" }, { "coordinates": [ { "allele": "T", "end": 4950, "referenceAllele": "A", "start": 4949 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000674971.1:c.4723A>T" ], "proteinEffect": { "hgvs": "ENSP00000502194.1:p.Lys1575Ter", "hgvsWellDefined": "ENSP00000502194.1:p.Lys1576_Ser2322delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774853" }, { "coordinates": [ { "allele": "T", "end": 4929, "referenceAllele": "A", "start": 4928 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675230.1:c.4702A>T" ], "proteinEffect": { "hgvs": "ENSP00000502503.1:p.Lys1568Ter", "hgvsWellDefined": "ENSP00000502503.1:p.Lys1569_Tyr2472delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775078" }, { "coordinates": [ { "allele": "T", "end": 4950, "referenceAllele": "A", "start": 4949 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675408.1:c.4723A>T" ], "proteinEffect": { "hgvs": "ENSP00000502298.1:p.Lys1575Ter", "hgvsWellDefined": "ENSP00000502298.1:p.Lys1576_Tyr2424delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775233" }, { "coordinates": [ { "allele": "T", "end": 5811, "referenceAllele": "A", "start": 5810 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675476.1:c.5584A>T" ], "proteinEffect": { "hgvs": "ENSP00000502161.1:p.Lys1862Ter", "hgvsWellDefined": "ENSP00000502161.1:p.Lys1863_Tyr2766delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775293" }, { "coordinates": [ { "allele": "T", "end": 4950, "referenceAllele": "A", "start": 4949 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675628.1:n.4950A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775421" }, { "coordinates": [ { "allele": "T", "end": 4837, "referenceAllele": "A", "start": 4836 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675794.1:c.*2894A>T" ], "proteinEffect": { "hgvs": "ENSP00000502841.1:n.*2894A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775565" }, { "coordinates": [ { "allele": "T", "end": 5718, "referenceAllele": "A", "start": 5717 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675833.1:c.5491A>T" ], "proteinEffect": { "hgvs": "ENSP00000502559.1:p.Lys1831Ter", "hgvsWellDefined": "ENSP00000502559.1:p.Lys1832_Tyr2735delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775601" }, { "coordinates": [ { "allele": "T", "end": 1028, "referenceAllele": "A", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675894.1:n.1028A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775656" }, { "coordinates": [ { "allele": "T", "end": 4950, "referenceAllele": "A", "start": 4949 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676074.1:c.4723A>T" ], "proteinEffect": { "hgvs": "ENSP00000502079.1:p.Lys1575Ter", "hgvsWellDefined": "ENSP00000502079.1:p.Lys1576_Ser2267delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775809" }, { "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "A", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676181.1:n.3651A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775901" }, { "coordinates": [ { "allele": "T", "end": 10449, "referenceAllele": "A", "start": 10448 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676363.1:n.10449A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776054" }, { "coordinates": [ { "allele": "T", "end": 4807, "referenceAllele": "A", "start": 4806 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676448.1:c.*2636A>T" ], "proteinEffect": { "hgvs": "ENSP00000501987.1:n.*2636A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776129" }, { "coordinates": [ { "allele": "T", "end": 4729, "referenceAllele": "A", "start": 4728 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.11:c.4729A>T" ], "proteinEffect": { "hgvs": "ENSP00000308021.7:p.Lys1577Ter", "hgvsWellDefined": "ENSP00000308021.7:p.Lys1578_Tyr2481delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256142" }, { "coordinates": [ { "allele": "T", "end": 3083, "referenceAllele": "A", "start": 3082 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547691.6:c.1903A>T" ], "proteinEffect": { "hgvs": "ENSP00000446905.1:p.Lys635Ter", "hgvsWellDefined": "ENSP00000446905.1:p.Lys636_Tyr1539delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS366424" }, { "coordinates": [ { "allele": "T", "end": 5067, "referenceAllele": "A", "start": 5066 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.5:c.4723A>T" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Lys1575Ter", "hgvsWellDefined": "ENSP00000448012.1:p.Lys1576_Tyr2479delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS369457" }, { "@id": "http://reg.genome.network/allele/PA251752", "coordinates": [ { "allele": "T", "end": 5067, "referenceAllele": "A", "start": 5066 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.3:c.4723A>T" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Lys1575Ter", "hgvsWellDefined": "NP_079390.3:p.Lys1576_Tyr2479delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038208" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.1:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537058.1:p.Lys1863_Tyr2769delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105710" }, { "coordinates": [ { "allele": "T", "end": 5698, "referenceAllele": "A", "start": 5697 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.1:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537059.1:p.Lys1863_Tyr2769delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105711" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.1:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537060.1:p.Lys1863_Tyr2768delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105712" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.1:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537061.1:p.Lys1863_Tyr2766delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105713" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.1:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537062.1:p.Lys1863_Tyr2728delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105714" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.1:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537063.1:p.Lys1863_Tyr2714delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105715" }, { "coordinates": [ { "allele": "T", "end": 5160, "referenceAllele": "A", "start": 5159 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.1:c.4816A>T" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Lys1606Ter", "hgvsWellDefined": "XP_011537064.1:p.Lys1607_Tyr2513delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105716" }, { "coordinates": [ { "allele": "T", "end": 5067, "referenceAllele": "A", "start": 5066 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.1:c.4723A>T" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Lys1575Ter", "hgvsWellDefined": "XP_011537065.1:p.Lys1576_Tyr2482delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105717" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.1:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537066.1:p.Lys1863_Phe2366delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105718" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.1:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537067.1:p.Lys1863_Phe2365delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105719" }, { "coordinates": [ { "allele": "T", "end": 4155, "referenceAllele": "A", "start": 4154 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538766.1:c.4045A>T" ], "proteinEffect": { "hgvs": "XP_011537068.1:p.Lys1349Ter", "hgvsWellDefined": "XP_011537068.1:p.Lys1350_Tyr2256delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105720" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.3:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537058.1:p.Lys1863_Tyr2769delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553398" }, { "coordinates": [ { "allele": "T", "end": 5736, "referenceAllele": "A", "start": 5735 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.3:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537059.1:p.Lys1863_Tyr2769delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553399" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.3:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537060.1:p.Lys1863_Tyr2768delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553400" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.2:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537061.1:p.Lys1863_Tyr2766delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553401" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.2:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537062.1:p.Lys1863_Tyr2728delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553402" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.2:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537063.1:p.Lys1863_Tyr2714delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553403" }, { "coordinates": [ { "allele": "T", "end": 5160, "referenceAllele": "A", "start": 5159 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.3:c.4816A>T" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Lys1606Ter", "hgvsWellDefined": "XP_011537064.1:p.Lys1607_Tyr2513delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553404" }, { "coordinates": [ { "allele": "T", "end": 5067, "referenceAllele": "A", "start": 5066 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.3:c.4723A>T" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Lys1575Ter", "hgvsWellDefined": "XP_011537065.1:p.Lys1576_Tyr2482delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553405" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.3:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537066.1:p.Lys1863_Phe2366delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553406" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.3:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Lys1862Ter", "hgvsWellDefined": "XP_011537067.1:p.Lys1863_Phe2365delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553407" }, { "coordinates": [ { "allele": "T", "end": 4155, "referenceAllele": "A", "start": 4154 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538766.3:c.4045A>T" ], "proteinEffect": { "hgvs": "XP_011537068.1:p.Lys1349Ter", "hgvsWellDefined": "XP_011537068.1:p.Lys1350_Tyr2256delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553408" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019980.2:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_016875469.1:p.Lys1862Ter", "hgvsWellDefined": "XP_016875469.1:p.Lys1863_Tyr2725delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571554" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019981.2:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_016875470.1:p.Lys1862Ter", "hgvsWellDefined": "XP_016875470.1:p.Lys1863_Tyr2711delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571555" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019982.1:c.5584A>T" ], "proteinEffect": { "hgvs": "XP_016875471.1:p.Lys1862Ter", "hgvsWellDefined": "XP_016875471.1:p.Lys1863_Ser2612delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571556" }, { "coordinates": [ { "allele": "T", "end": 5046, "referenceAllele": "A", "start": 5045 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019983.2:c.4702A>T" ], "proteinEffect": { "hgvs": "XP_016875472.1:p.Lys1568Ter", "hgvsWellDefined": "XP_016875472.1:p.Lys1569_Tyr2475delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571557" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748869.1:n.5928A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596808" }, { "coordinates": [ { "allele": "T", "end": 5928, "referenceAllele": "A", "start": 5927 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748870.2:n.5928A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596809" }, { "@id": "http://reg.genome.network/allele/PA251752", "coordinates": [ { "allele": "T", "end": 4939, "referenceAllele": "A", "start": 4938 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.4:c.4723A>T" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Lys1575Ter", "hgvsWellDefined": "NP_079390.3:p.Lys1576_Tyr2479delinsHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.4723A>T" }, "RefSeq": { "hgvs": "NM_025114.4:c.4723A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Lys1575Ter" }, "RefSeq": { "hgvs": "NP_079390.3:p.Lys1575Ter" } } } } ], "type": "nucleotide" }