{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA277705", "communityStandardTitle": [ "NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214330[alleleid]", "alleleId": 214330, "preferredName": "NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217626", "RCV": [ "RCV000201563", "RCV000502726", "RCV000763314", "RCV000816913", "RCV001002937", "RCV001030764", "RCV001529566", "RCV001589085", "RCV003468919" ], "variationId": 217626 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-88479860-G-A", "id": "12-88479860-G-A", "variant": "12:88479860 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88479860G>A?assembly=hg19", "id": "chr12:g.88479860G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88086083G>A?assembly=hg38", "id": "chr12:g.88086083G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/539400286", "rs": 539400286 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88479860-G-A?dataset=gnomad_r2_1", "id": "12-88479860-G-A", "variant": "12:88479860 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88086083-G-A?dataset=gnomad_r3", "id": "12-88086083-G-A", "variant": "12:88086083 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88086083-G-A?dataset=gnomad_r4", "id": "12-88086083-G-A", "variant": "12:88086083 G / A" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 88086083, "referenceAllele": "G", "start": 88086082 } ], "hgvs": [ "NC_000012.12:g.88086083G>A", "CM000674.2:g.88086083G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { 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"T", "end": 4620, "referenceAllele": "C", "start": 4619 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.12:c.4393C>T" ], "proteinEffect": { "hgvs": "ENSP00000308021.8:p.Arg1465Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS745510" }, { "coordinates": [ { "allele": "T", "end": 1677, "referenceAllele": "C", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547691.8:c.1677C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759881" }, { "coordinates": [ { "allele": "T", "end": 4609, "referenceAllele": "C", "start": 4608 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.6:c.4393C>T" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Arg1465Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS760039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.4393C>T" }, "RefSeq": { "hgvs": "NM_025114.4:c.4393C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Arg1465Ter" }, "RefSeq": { "hgvs": "NP_079390.3:p.Arg1465Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4507, "referenceAllele": "C", "start": 4506 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000672414.2:c.*2564C>T" ], "proteinEffect": { "hgvs": "ENSP00000500729.1:n.*2564C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773378" }, { "coordinates": [ { "allele": "T", "end": 2753, "referenceAllele": "C", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000672647.1:n.2753C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773444" }, { "coordinates": [ { "allele": 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"ENSP00000500665.2:p.Arg1465_Tyr2438delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773585" }, { "coordinates": [ { "allele": "T", "end": 4620, "referenceAllele": "C", "start": 4619 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000674971.1:c.4393C>T" ], "proteinEffect": { "hgvs": "ENSP00000502194.1:p.Arg1465Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774853" }, { "coordinates": [ { "allele": "T", "end": 4599, "referenceAllele": "C", "start": 4598 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675230.1:c.4372C>T" ], "proteinEffect": { "hgvs": "ENSP00000502503.1:p.Arg1458Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775078" }, { "coordinates": [ { "allele": "T", "end": 4620, "referenceAllele": "C", "start": 4619 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675408.1:c.4393C>T" ], "proteinEffect": { "hgvs": "ENSP00000502298.1:p.Arg1465Ter", "hgvsWellDefined": "ENSP00000502298.1:p.Arg1465_Tyr2424delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" 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"ENSP00000502079.1:p.Arg1465_Ser2267delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer" 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"http://reg.genome.network/refseq/RS776129" }, { "coordinates": [ { "allele": "T", "end": 4399, "referenceAllele": "C", "start": 4398 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.11:c.4399C>T" ], "proteinEffect": { "hgvs": "ENSP00000308021.7:p.Arg1467Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS256142" }, { "coordinates": [ { "allele": "T", "end": 2753, "referenceAllele": "C", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547691.6:c.1573C>T" ], "proteinEffect": { "hgvs": "ENSP00000446905.1:p.Arg525Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS366424" }, { "coordinates": [ { "allele": "T", "end": 4737, "referenceAllele": "C", "start": 4736 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ 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"http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.1:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Arg1752Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS105711" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.1:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Arg1752Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS105712" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.1:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Arg1752Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS105713" }, { "coordinates": [ { 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"XP_011537062.1:p.Arg1752_Tyr2728delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105714" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.1:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Arg1752Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105715" }, { "coordinates": [ { "allele": "T", "end": 4830, "referenceAllele": "C", "start": 4829 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.1:c.4486C>T" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Arg1496Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS105716" }, { "coordinates": [ { "allele": "T", "end": 4737, "referenceAllele": "C", "start": 4736 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.1:c.4393C>T" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Arg1465Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS105717" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.1:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Arg1752Ter", "hgvsWellDefined": "XP_011537066.1:p.Arg1752_Phe2366delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105718" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.1:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Arg1752Ter", "hgvsWellDefined": "XP_011537067.1:p.Arg1752_Phe2365delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105719" }, { "coordinates": [ { "allele": "T", "end": 3825, "referenceAllele": "C", "start": 3824 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538766.1:c.3715C>T" ], "proteinEffect": { "hgvs": "XP_011537068.1:p.Arg1239Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS105720" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.3:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Arg1752Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS553398" }, { "coordinates": [ { "allele": "T", "end": 5406, "referenceAllele": "C", "start": 5405 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.3:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Arg1752Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS553399" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.3:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Arg1752Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS553400" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.2:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Arg1752Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS553401" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.2:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Arg1752Ter", "hgvsWellDefined": "XP_011537062.1:p.Arg1752_Tyr2728delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553402" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.2:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Arg1752Ter", "hgvsWellDefined": "XP_011537063.1:p.Arg1752_Tyr2714delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553403" }, { "coordinates": [ { "allele": "T", "end": 4830, "referenceAllele": "C", "start": 4829 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.3:c.4486C>T" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Arg1496Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS553404" }, { "coordinates": [ { "allele": "T", "end": 4737, "referenceAllele": "C", "start": 4736 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.3:c.4393C>T" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Arg1465Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS553405" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.3:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Arg1752Ter", "hgvsWellDefined": "XP_011537066.1:p.Arg1752_Phe2366delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553406" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.3:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Arg1752Ter", "hgvsWellDefined": "XP_011537067.1:p.Arg1752_Phe2365delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553407" }, { "coordinates": [ { "allele": "T", "end": 3825, "referenceAllele": "C", "start": 3824 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538766.3:c.3715C>T" ], "proteinEffect": { "hgvs": "XP_011537068.1:p.Arg1239Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS553408" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019980.2:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_016875469.1:p.Arg1752Ter", "hgvsWellDefined": "XP_016875469.1:p.Arg1752_Tyr2725delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571554" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019981.2:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_016875470.1:p.Arg1752Ter", "hgvsWellDefined": "XP_016875470.1:p.Arg1752_Tyr2711delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571555" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019982.1:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_016875471.1:p.Arg1752Ter", "hgvsWellDefined": "XP_016875471.1:p.Arg1752_Ser2612delinsIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571556" }, { "coordinates": [ { "allele": "T", "end": 4716, "referenceAllele": "C", "start": 4715 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019983.2:c.4372C>T" ], "proteinEffect": { "hgvs": "XP_016875472.1:p.Arg1458Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS571557" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748869.1:n.5598C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596808" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748870.2:n.5598C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596809" }, { "coordinates": [ { "allele": "T", "end": 4609, "referenceAllele": "C", "start": 4608 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.4:c.4393C>T" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Arg1465Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS698816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.4393C>T" }, "RefSeq": { "hgvs": "NM_025114.4:c.4393C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Arg1465Ter" }, "RefSeq": { "hgvs": "NP_079390.3:p.Arg1465Ter" } } } } ], "type": "nucleotide" }