{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA277735", "communityStandardTitle": [ "NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM6045804" }, { "active": false, "id": "COSM6045805" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214324[alleleid]", "alleleId": 214324, "preferredName": "NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217637", "RCV": [ "RCV000201627", "RCV000598256", "RCV001382359", "RCV003468924" ], "variationId": 217637 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-88465150-G-A", "id": "12-88465150-G-A", "variant": "12:88465150 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88465150G>A?assembly=hg19", "id": "chr12:g.88465150G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88071373G>A?assembly=hg38", "id": "chr12:g.88071373G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/371525247", "rs": 371525247 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88465150-G-A?dataset=gnomad_r2_1", "id": "12-88465150-G-A", "variant": "12:88465150 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88071373-G-A?dataset=gnomad_r4", "id": "12-88071373-G-A", "variant": "12:88071373 G / A" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 88071373, "referenceAllele": "G", "start": 88071372 } ], "hgvs": [ "NC_000012.12:g.88071373G>A", "CM000674.2:g.88071373G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 88465150, "referenceAllele": "G", "start": 88465149 } ], "hgvs": [ "NC_000012.11:g.88465150G>A", "CM000674.1:g.88465150G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 86989281, "referenceAllele": "G", "start": 86989280 } ], "hgvs": [ "NC_000012.10:g.86989281G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 75844, "referenceAllele": "C", "start": 75843 } ], "hgvs": [ "NG_008417.1:g.75844C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001089" }, { "coordinates": [ { "allele": "T", "end": 75844, "referenceAllele": "C", "start": 75843 } ], "hgvs": [ "NG_008417.2:g.75844C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706085" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 6159, "referenceAllele": "C", "start": 6158 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.12:c.5932C>T" ], "proteinEffect": { "hgvs": "ENSP00000308021.8:p.Arg1978Ter", "hgvsWellDefined": "ENSP00000308021.8:p.Arg1978_Tyr2482delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745510" }, { "coordinates": [ { "allele": "T", "end": 3216, "referenceAllele": "C", "start": 3215 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547691.8:c.3216C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759881" }, { "coordinates": [ { "allele": "T", "end": 6148, "referenceAllele": "C", "start": 6147 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.6:c.5932C>T" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Arg1978Ter", "hgvsWellDefined": "ENSP00000448012.1:p.Arg1978_Tyr2479delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.5932C>T" }, "RefSeq": { "hgvs": "NM_025114.4:c.5932C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Arg1978Ter" }, "RefSeq": { "hgvs": "NP_079390.3:p.Arg1978Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 6046, "referenceAllele": "C", "start": 6045 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000672414.2:c.*4103C>T" ], "proteinEffect": { "hgvs": "ENSP00000500729.1:n.*4103C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773378" }, { "coordinates": [ { "allele": "T", "end": 4292, "referenceAllele": "C", "start": 4291 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000672647.1:n.4292C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773444" }, { "coordinates": [ { "allele": "T", "end": 6159, "referenceAllele": "C", "start": 6158 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000673058.2:c.5932C>T" ], "proteinEffect": { "hgvs": "ENSP00000500665.2:p.Arg1978Ter", "hgvsWellDefined": "ENSP00000500665.2:p.Arg1978_Tyr2438delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773585" }, { "coordinates": [ { "allele": "T", "end": 6159, "referenceAllele": "C", "start": 6158 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000674971.1:c.5932C>T" ], "proteinEffect": { "hgvs": "ENSP00000502194.1:p.Arg1978Ter", "hgvsWellDefined": "ENSP00000502194.1:p.Arg1978_Ser2322delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774853" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675230.1:c.5911C>T" ], "proteinEffect": { "hgvs": "ENSP00000502503.1:p.Arg1971Ter", "hgvsWellDefined": "ENSP00000502503.1:p.Arg1971_Tyr2472delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775078" }, { "coordinates": [ { "allele": "T", "end": 6159, "referenceAllele": "C", "start": 6158 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675408.1:c.5932C>T" ], "proteinEffect": { "hgvs": "ENSP00000502298.1:p.Arg1978Ter", "hgvsWellDefined": "ENSP00000502298.1:p.Arg1978_Tyr2424delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775233" }, { "coordinates": [ { "allele": "T", "end": 7020, "referenceAllele": "C", "start": 7019 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675476.1:c.6793C>T" ], "proteinEffect": { "hgvs": "ENSP00000502161.1:p.Arg2265Ter", "hgvsWellDefined": "ENSP00000502161.1:p.Arg2265_Tyr2766delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775293" }, { "coordinates": [ { "allele": "T", "end": 6159, "referenceAllele": "C", "start": 6158 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675628.1:n.6159C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775421" }, { "coordinates": [ { "allele": "T", "end": 6046, "referenceAllele": "C", "start": 6045 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675794.1:c.*4103C>T" ], "proteinEffect": { "hgvs": "ENSP00000502841.1:n.*4103C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775565" }, { "coordinates": [ { "allele": "T", "end": 6927, "referenceAllele": "C", "start": 6926 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675833.1:c.6700C>T" ], "proteinEffect": { "hgvs": "ENSP00000502559.1:p.Arg2234Ter", "hgvsWellDefined": "ENSP00000502559.1:p.Arg2234_Tyr2735delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775601" }, { "coordinates": [ { "allele": "T", "end": 2237, "referenceAllele": "C", "start": 2236 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675894.1:n.2237C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775656" }, { "coordinates": [ { "allele": "T", "end": 6159, "referenceAllele": "C", "start": 6158 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676074.1:c.5932C>T" ], "proteinEffect": { "hgvs": "ENSP00000502079.1:p.Arg1978Ter", "hgvsWellDefined": "ENSP00000502079.1:p.Arg1978_Ser2267delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775809" }, { "coordinates": [ { "allele": "T", "end": 4860, "referenceAllele": "C", "start": 4859 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676181.1:n.4860C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775901" }, { "coordinates": [ { "allele": "T", "end": 11658, "referenceAllele": "C", "start": 11657 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676363.1:n.11658C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776054" }, { "coordinates": [ { "allele": "T", "end": 6016, "referenceAllele": "C", "start": 6015 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676448.1:c.*3845C>T" ], "proteinEffect": { "hgvs": "ENSP00000501987.1:n.*3845C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776129" }, { "coordinates": [ { "allele": "T", "end": 5938, "referenceAllele": "C", "start": 5937 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.11:c.5938C>T" ], "proteinEffect": { "hgvs": "ENSP00000308021.7:p.Arg1980Ter", "hgvsWellDefined": "ENSP00000308021.7:p.Arg1980_Tyr2481delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256142" }, { "coordinates": [ { "allele": "T", "end": 4292, "referenceAllele": "C", "start": 4291 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547691.6:c.3112C>T" ], "proteinEffect": { "hgvs": "ENSP00000446905.1:p.Arg1038Ter", "hgvsWellDefined": "ENSP00000446905.1:p.Arg1038_Tyr1539delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS366424" }, { "coordinates": [ { "allele": "T", "end": 6276, "referenceAllele": "C", "start": 6275 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.5:c.5932C>T" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Arg1978Ter", "hgvsWellDefined": "ENSP00000448012.1:p.Arg1978_Tyr2479delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS369457" }, { "@id": "http://reg.genome.network/allele/PA277736", "coordinates": [ { "allele": "T", "end": 6276, "referenceAllele": "C", "start": 6275 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.3:c.5932C>T" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Arg1978Ter", "hgvsWellDefined": "NP_079390.3:p.Arg1978_Tyr2479delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038208" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.1:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537058.1:p.Arg2265_Tyr2769delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105710" }, { "coordinates": [ { "allele": "T", "end": 6907, "referenceAllele": "C", "start": 6906 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.1:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537059.1:p.Arg2265_Tyr2769delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105711" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.1:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537060.1:p.Arg2265_Tyr2768delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105712" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.1:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537061.1:p.Arg2265_Tyr2766delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105713" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.1:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537062.1:p.Arg2265_Tyr2728delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105714" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.1:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537063.1:p.Arg2265_Tyr2714delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105715" }, { "coordinates": [ { "allele": "T", "end": 6369, "referenceAllele": "C", "start": 6368 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.1:c.6025C>T" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Arg2009Ter", "hgvsWellDefined": "XP_011537064.1:p.Arg2009_Tyr2513delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105716" }, { "coordinates": [ { "allele": "T", "end": 6276, "referenceAllele": "C", "start": 6275 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.1:c.5932C>T" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Arg1978Ter", "hgvsWellDefined": "XP_011537065.1:p.Arg1978_Tyr2482delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105717" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.1:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537066.1:p.Arg2265_Phe2366delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105718" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.1:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537067.1:p.Arg2265_Phe2365delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105719" }, { "coordinates": [ { "allele": "T", "end": 5364, "referenceAllele": "C", "start": 5363 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538766.1:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537068.1:p.Arg1752Ter", "hgvsWellDefined": "XP_011537068.1:p.Arg1752_Tyr2256delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105720" }, { "coordinates": [ { "allele": "A", "end": 967, "endIntronDirection": "-", "endIntronOffset": 10939, "referenceAllele": "G", "start": 967, "startIntronDirection": "-", "startIntronOffset": 10940 } ], "hgvs": [ "XR_945163.1:n.968-10940G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS138912" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.3:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537058.1:p.Arg2265_Tyr2769delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553398" }, { "coordinates": [ { "allele": "T", "end": 6945, "referenceAllele": "C", "start": 6944 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.3:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537059.1:p.Arg2265_Tyr2769delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553399" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.3:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537060.1:p.Arg2265_Tyr2768delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553400" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.2:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537061.1:p.Arg2265_Tyr2766delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553401" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.2:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537062.1:p.Arg2265_Tyr2728delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553402" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.2:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537063.1:p.Arg2265_Tyr2714delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553403" }, { "coordinates": [ { "allele": "T", "end": 6369, "referenceAllele": "C", "start": 6368 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.3:c.6025C>T" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Arg2009Ter", "hgvsWellDefined": "XP_011537064.1:p.Arg2009_Tyr2513delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553404" }, { "coordinates": [ { "allele": "T", "end": 6276, "referenceAllele": "C", "start": 6275 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.3:c.5932C>T" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Arg1978Ter", "hgvsWellDefined": "XP_011537065.1:p.Arg1978_Tyr2482delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553405" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.3:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537066.1:p.Arg2265_Phe2366delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553406" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.3:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Arg2265Ter", "hgvsWellDefined": "XP_011537067.1:p.Arg2265_Phe2365delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553407" }, { "coordinates": [ { "allele": "T", "end": 5364, "referenceAllele": "C", "start": 5363 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538766.3:c.5254C>T" ], "proteinEffect": { "hgvs": "XP_011537068.1:p.Arg1752Ter", "hgvsWellDefined": "XP_011537068.1:p.Arg1752_Tyr2256delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553408" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019980.2:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_016875469.1:p.Arg2265Ter", "hgvsWellDefined": "XP_016875469.1:p.Arg2265_Tyr2725delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571554" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019981.2:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_016875470.1:p.Arg2265Ter", "hgvsWellDefined": "XP_016875470.1:p.Arg2265_Tyr2711delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571555" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019982.1:c.6793C>T" ], "proteinEffect": { "hgvs": "XP_016875471.1:p.Arg2265Ter", "hgvsWellDefined": "XP_016875471.1:p.Arg2265_Ser2612delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571556" }, { "coordinates": [ { "allele": "T", "end": 6255, "referenceAllele": "C", "start": 6254 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019983.2:c.5911C>T" ], "proteinEffect": { "hgvs": "XP_016875472.1:p.Arg1971Ter", "hgvsWellDefined": "XP_016875472.1:p.Arg1971_Tyr2475delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571557" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748869.1:n.7137C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596808" }, { "coordinates": [ { "allele": "T", "end": 7137, "referenceAllele": "C", "start": 7136 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748870.2:n.7137C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596809" }, { "@id": "http://reg.genome.network/allele/PA277736", "coordinates": [ { "allele": "T", "end": 6148, "referenceAllele": "C", "start": 6147 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.4:c.5932C>T" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Arg1978Ter", "hgvsWellDefined": "NP_079390.3:p.Arg1978_Tyr2479delinsAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.5932C>T" }, "RefSeq": { "hgvs": "NM_025114.4:c.5932C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Arg1978Ter" }, "RefSeq": { "hgvs": "NP_079390.3:p.Arg1978Ter" } } } } ], "type": "nucleotide" }