{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA227973", "communityStandardTitle": [ "NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=105745[alleleid]", "alleleId": 105745, "preferredName": "NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/99856", "RCV": [ "RCV000086293", "RCV001002936", "RCV001385691", "RCV003467013", "RCV004542803" ], "variationId": 99856 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88477665G>A?assembly=hg19", "id": "chr12:g.88477665G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88083888G>A?assembly=hg38", "id": "chr12:g.88083888G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/62640574", "rs": 62640574 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88083888-G-A?dataset=gnomad_r4", "id": "12-88083888-G-A", "variant": "12:88083888 G / A" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 88083888, "referenceAllele": "G", "start": 88083887 } ], "hgvs": [ "NC_000012.12:g.88083888G>A", "CM000674.2:g.88083888G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 88477665, "referenceAllele": "G", "start": 88477664 } ], "hgvs": [ "NC_000012.11:g.88477665G>A", "CM000674.1:g.88477665G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 87001796, "referenceAllele": "G", "start": 87001795 } ], "hgvs": [ "NC_000012.10:g.87001796G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 63329, "referenceAllele": "C", "start": 63328 } ], "hgvs": [ "NG_008417.1:g.63329C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001089" }, { "coordinates": [ { "allele": "T", "end": 63329, "referenceAllele": "C", "start": 63328 } ], "hgvs": [ "NG_008417.2:g.63329C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706085" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4998, "referenceAllele": "C", "start": 4997 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.12:c.4771C>T" ], "proteinEffect": { "hgvs": "ENSP00000308021.8:p.Gln1591Ter", "hgvsWellDefined": "ENSP00000308021.8:p.Gln1591_Tyr2482delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745510" }, { "coordinates": [ { "allele": "T", "end": 2055, "referenceAllele": "C", "start": 2054 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547691.8:c.2055C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759881" }, { "coordinates": [ { "allele": "T", "end": 4987, "referenceAllele": "C", "start": 4986 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.6:c.4771C>T" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Gln1591Ter", "hgvsWellDefined": "ENSP00000448012.1:p.Gln1591_Tyr2479delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.4771C>T" }, "RefSeq": { "hgvs": "NM_025114.4:c.4771C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Gln1591Ter" }, "RefSeq": { "hgvs": "NP_079390.3:p.Gln1591Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4885, "referenceAllele": "C", "start": 4884 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000672414.2:c.*2942C>T" ], "proteinEffect": { "hgvs": "ENSP00000500729.1:n.*2942C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773378" }, { "coordinates": [ { "allele": "T", "end": 3131, "referenceAllele": "C", "start": 3130 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000672647.1:n.3131C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773444" }, { "coordinates": [ { "allele": "T", "end": 4998, "referenceAllele": "C", "start": 4997 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000673058.2:c.4771C>T" ], "proteinEffect": { "hgvs": "ENSP00000500665.2:p.Gln1591Ter", "hgvsWellDefined": "ENSP00000500665.2:p.Gln1591_Tyr2438delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773585" }, { "coordinates": [ { "allele": "T", "end": 4998, "referenceAllele": "C", "start": 4997 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000674971.1:c.4771C>T" ], "proteinEffect": { "hgvs": "ENSP00000502194.1:p.Gln1591Ter", "hgvsWellDefined": "ENSP00000502194.1:p.Gln1591_Ser2322delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774853" }, { "coordinates": [ { "allele": "T", "end": 4977, "referenceAllele": "C", "start": 4976 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675230.1:c.4750C>T" ], "proteinEffect": { "hgvs": "ENSP00000502503.1:p.Gln1584Ter", "hgvsWellDefined": "ENSP00000502503.1:p.Gln1584_Tyr2472delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775078" }, { "coordinates": [ { "allele": "T", "end": 4998, "referenceAllele": "C", "start": 4997 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675408.1:c.4771C>T" ], "proteinEffect": { "hgvs": "ENSP00000502298.1:p.Gln1591Ter", "hgvsWellDefined": "ENSP00000502298.1:p.Gln1591_Tyr2424delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775233" }, { "coordinates": [ { "allele": "T", "end": 5859, "referenceAllele": "C", "start": 5858 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675476.1:c.5632C>T" ], "proteinEffect": { "hgvs": "ENSP00000502161.1:p.Gln1878Ter", "hgvsWellDefined": "ENSP00000502161.1:p.Gln1878_Tyr2766delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775293" }, { "coordinates": [ { "allele": "T", "end": 4998, "referenceAllele": "C", "start": 4997 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675628.1:n.4998C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775421" }, { "coordinates": [ { "allele": "T", "end": 4885, "referenceAllele": "C", "start": 4884 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675794.1:c.*2942C>T" ], "proteinEffect": { "hgvs": "ENSP00000502841.1:n.*2942C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775565" }, { "coordinates": [ { "allele": "T", "end": 5766, "referenceAllele": "C", "start": 5765 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675833.1:c.5539C>T" ], "proteinEffect": { "hgvs": "ENSP00000502559.1:p.Gln1847Ter", "hgvsWellDefined": "ENSP00000502559.1:p.Gln1847_Tyr2735delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775601" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675894.1:n.1076C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775656" }, { "coordinates": [ { "allele": "T", "end": 4998, "referenceAllele": "C", "start": 4997 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676074.1:c.4771C>T" ], "proteinEffect": { "hgvs": "ENSP00000502079.1:p.Gln1591Ter", "hgvsWellDefined": "ENSP00000502079.1:p.Gln1591_Ser2267delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775809" }, { "coordinates": [ { "allele": "T", "end": 3699, "referenceAllele": "C", "start": 3698 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676181.1:n.3699C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775901" }, { "coordinates": [ { "allele": "T", "end": 10497, "referenceAllele": "C", "start": 10496 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676363.1:n.10497C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776054" }, { "coordinates": [ { "allele": "T", "end": 4855, "referenceAllele": "C", "start": 4854 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676448.1:c.*2684C>T" ], "proteinEffect": { "hgvs": "ENSP00000501987.1:n.*2684C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776129" }, { "coordinates": [ { "allele": "T", "end": 4777, "referenceAllele": "C", "start": 4776 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.11:c.4777C>T" ], "proteinEffect": { "hgvs": "ENSP00000308021.7:p.Gln1593Ter", "hgvsWellDefined": "ENSP00000308021.7:p.Gln1593_Tyr2481delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256142" }, { "coordinates": [ { "allele": "T", "end": 3131, "referenceAllele": "C", "start": 3130 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547691.6:c.1951C>T" ], "proteinEffect": { "hgvs": "ENSP00000446905.1:p.Gln651Ter", "hgvsWellDefined": "ENSP00000446905.1:p.Gln651_Tyr1539delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS366424" }, { "coordinates": [ { "allele": "T", "end": 5115, "referenceAllele": "C", "start": 5114 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.5:c.4771C>T" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Gln1591Ter", "hgvsWellDefined": "ENSP00000448012.1:p.Gln1591_Tyr2479delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS369457" }, { "@id": "http://reg.genome.network/allele/PA227974", "coordinates": [ { "allele": "T", "end": 5115, "referenceAllele": "C", "start": 5114 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.3:c.4771C>T" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Gln1591Ter", "hgvsWellDefined": "NP_079390.3:p.Gln1591_Tyr2479delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038208" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.1:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537058.1:p.Gln1878_Tyr2769delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105710" }, { "coordinates": [ { "allele": "T", "end": 5746, "referenceAllele": "C", "start": 5745 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.1:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537059.1:p.Gln1878_Tyr2769delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105711" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.1:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537060.1:p.Gln1878_Tyr2768delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105712" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.1:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537061.1:p.Gln1878_Tyr2766delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105713" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.1:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537062.1:p.Gln1878_Tyr2728delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105714" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.1:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537063.1:p.Gln1878_Tyr2714delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105715" }, { "coordinates": [ { "allele": "T", "end": 5208, "referenceAllele": "C", "start": 5207 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.1:c.4864C>T" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Gln1622Ter", "hgvsWellDefined": "XP_011537064.1:p.Gln1622_Tyr2513delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105716" }, { "coordinates": [ { "allele": "T", "end": 5115, "referenceAllele": "C", "start": 5114 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.1:c.4771C>T" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Gln1591Ter", "hgvsWellDefined": "XP_011537065.1:p.Gln1591_Tyr2482delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105717" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.1:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537066.1:p.Gln1878_Phe2366delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105718" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.1:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537067.1:p.Gln1878_Phe2365delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105719" }, { "coordinates": [ { "allele": "T", "end": 4203, "referenceAllele": "C", "start": 4202 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538766.1:c.4093C>T" ], "proteinEffect": { "hgvs": "XP_011537068.1:p.Gln1365Ter", "hgvsWellDefined": "XP_011537068.1:p.Gln1365_Tyr2256delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105720" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.3:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537058.1:p.Gln1878_Tyr2769delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553398" }, { "coordinates": [ { "allele": "T", "end": 5784, "referenceAllele": "C", "start": 5783 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.3:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537059.1:p.Gln1878_Tyr2769delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553399" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.3:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537060.1:p.Gln1878_Tyr2768delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553400" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.2:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537061.1:p.Gln1878_Tyr2766delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553401" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.2:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537062.1:p.Gln1878_Tyr2728delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553402" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.2:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537063.1:p.Gln1878_Tyr2714delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553403" }, { "coordinates": [ { "allele": "T", "end": 5208, "referenceAllele": "C", "start": 5207 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.3:c.4864C>T" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Gln1622Ter", "hgvsWellDefined": "XP_011537064.1:p.Gln1622_Tyr2513delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553404" }, { "coordinates": [ { "allele": "T", "end": 5115, "referenceAllele": "C", "start": 5114 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.3:c.4771C>T" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Gln1591Ter", "hgvsWellDefined": "XP_011537065.1:p.Gln1591_Tyr2482delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553405" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.3:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537066.1:p.Gln1878_Phe2366delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553406" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.3:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Gln1878Ter", "hgvsWellDefined": "XP_011537067.1:p.Gln1878_Phe2365delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553407" }, { "coordinates": [ { "allele": "T", "end": 4203, "referenceAllele": "C", "start": 4202 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538766.3:c.4093C>T" ], "proteinEffect": { "hgvs": "XP_011537068.1:p.Gln1365Ter", "hgvsWellDefined": "XP_011537068.1:p.Gln1365_Tyr2256delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553408" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019980.2:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_016875469.1:p.Gln1878Ter", "hgvsWellDefined": "XP_016875469.1:p.Gln1878_Tyr2725delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571554" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019981.2:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_016875470.1:p.Gln1878Ter", "hgvsWellDefined": "XP_016875470.1:p.Gln1878_Tyr2711delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571555" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019982.1:c.5632C>T" ], "proteinEffect": { "hgvs": "XP_016875471.1:p.Gln1878Ter", "hgvsWellDefined": "XP_016875471.1:p.Gln1878_Ser2612delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571556" }, { "coordinates": [ { "allele": "T", "end": 5094, "referenceAllele": "C", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019983.2:c.4750C>T" ], "proteinEffect": { "hgvs": "XP_016875472.1:p.Gln1584Ter", "hgvsWellDefined": "XP_016875472.1:p.Gln1584_Tyr2475delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571557" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748869.1:n.5976C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596808" }, { "coordinates": [ { "allele": "T", "end": 5976, "referenceAllele": "C", "start": 5975 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748870.2:n.5976C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596809" }, { "@id": "http://reg.genome.network/allele/PA227974", "coordinates": [ { "allele": "T", "end": 4987, "referenceAllele": "C", "start": 4986 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.4:c.4771C>T" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Gln1591Ter", "hgvsWellDefined": "NP_079390.3:p.Gln1591_Tyr2479delinsAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.4771C>T" }, "RefSeq": { "hgvs": "NM_025114.4:c.4771C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Gln1591Ter" }, "RefSeq": { "hgvs": "NP_079390.3:p.Gln1591Ter" } } } } ], "type": "nucleotide" }