{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA203531", "communityStandardTitle": [ "NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20775[alleleid]", "alleleId": 20775, "preferredName": "NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5736", "RCV": [ "RCV000006090", "RCV000578757", "RCV000691427", "RCV000787578", "RCV000787826", "RCV001275651", "RCV001250606", "RCV002504753", "RCV003450616" ], "variationId": 5736 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-197396856-A-T", "id": "1-197396856-A-T", "variant": "1:197396856 A / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197396856A>T?assembly=hg19", "id": "chr1:g.197396856A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197427726A>T?assembly=hg38", "id": "chr1:g.197427726A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137853137", "rs": 137853137 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197396856-A-T?dataset=gnomad_r2_1", "id": "1-197396856-A-T", "variant": "1:197396856 A / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197427726-A-T?dataset=gnomad_r3", "id": "1-197427726-A-T", "variant": "1:197427726 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197427726-A-T?dataset=gnomad_r4", "id": "1-197427726-A-T", "variant": "1:197427726 A / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 197427726, "referenceAllele": "A", "start": 197427725 } ], "hgvs": [ "NC_000001.11:g.197427726A>T", "CM000663.2:g.197427726A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 197396856, "referenceAllele": "A", "start": 197396855 } ], "hgvs": [ "NC_000001.10:g.197396856A>T", "CM000663.1:g.197396856A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 195663479, "referenceAllele": "A", "start": 195663478 } ], "hgvs": [ "NC_000001.9:g.195663479A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 164449, "referenceAllele": "A", "start": 164448 } ], "hgvs": [ "NG_008483.1:g.164449A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001118" }, { "coordinates": [ { "allele": "T", "end": 231265, "referenceAllele": "A", "start": 231264 } ], "hgvs": [ "NG_008483.2:g.231265A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2562, "referenceAllele": "A", "start": 2561 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.8:c.2401A>T" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Lys801Ter", "hgvsWellDefined": "ENSP00000356370.3:p.Lys801_Ile1406delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.2401A>T" }, "RefSeq": { "hgvs": "NM_201253.3:c.2401A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Lys801Ter" }, "RefSeq": { "hgvs": "NP_957705.1:p.Lys801Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2536, "referenceAllele": "A", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000638467.1:c.2401A>T" ], "proteinEffect": { "hgvs": "ENSP00000491102.1:p.Lys801Ter", "hgvsWellDefined": "ENSP00000491102.1:p.Lys801_Tyr1376delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764542" }, { "coordinates": [ { "allele": "T", "end": 1382, "referenceAllele": "A", "start": 1381 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000681519.1:c.1282A>T" ], "proteinEffect": { "hgvs": "ENSP00000505267.1:p.Lys428Ter", "hgvsWellDefined": "ENSP00000505267.1:p.Lys428_Tyr1003delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781125" }, { "coordinates": [ { "allele": "T", "end": 1402, "referenceAllele": "A", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367397.1:c.544A>T" ], "proteinEffect": { "hgvs": "ENSP00000356367.1:p.Lys182Ter", "hgvsWellDefined": "ENSP00000356367.1:p.Lys182_Trp674delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266364" }, { "coordinates": [ { "allele": "T", "end": 2065, "referenceAllele": "A", "start": 2064 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367399.6:c.2065A>T" ], "proteinEffect": { "hgvs": "ENSP00000356369.2:p.Lys689Ter", "hgvsWellDefined": "ENSP00000356369.2:p.Lys689_Ile1294delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266365" }, { "coordinates": [ { "allele": "T", "end": 2536, "referenceAllele": "A", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.7:c.2401A>T" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Lys801Ter", "hgvsWellDefined": "ENSP00000356370.3:p.Lys801_Ile1406delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266366" }, { "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "A", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000480086.2:n.302A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS320322" }, { "coordinates": [ { "allele": "T", "end": 2536, "referenceAllele": "A", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000484075.5:c.2401A>T" ], "proteinEffect": { "hgvs": "ENSP00000433932.1:p.Lys801Ter", "hgvsWellDefined": "ENSP00000433932.1:p.Lys801_Tyr1376delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323413" }, { "coordinates": [ { "allele": "T", "end": 2610, "referenceAllele": "A", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000535699.5:c.2194A>T" ], "proteinEffect": { "hgvs": "ENSP00000438786.1:p.Lys732Ter", "hgvsWellDefined": "ENSP00000438786.1:p.Lys732_Ile1382delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysArgGlnThrAsnValGlyArgAlaLeuThrGluLeuGlySerArgGlyProLysTyrGlnValSerLeuPheArgPheCysValGlySerTrpAlaThrGlyAsnThrPhePheLeuSerSerIleLysProGlySerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359878" }, { "coordinates": [ { "allele": "T", "end": 2337, "endIntronDirection": "+", "endIntronOffset": 5770, "referenceAllele": "A", "start": 2337, "startIntronDirection": "+", "startIntronOffset": 5769 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000538660.5:c.2128+5770A>T" ], "proteinEffect": { "hgvs": "ENSP00000438091.1:n.2128+5770A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS361440" }, { "@id": "http://reg.genome.network/allele/PA2826192267", "coordinates": [ { "allele": "T", "end": 2274, "referenceAllele": "A", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.1:c.2065A>T" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Lys689Ter", "hgvsWellDefined": "NP_001180569.1:p.Lys689_Ile1294delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016470" }, { "@id": "http://reg.genome.network/allele/PA2826446803", "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "A", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.1:c.2194A>T" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Lys732Ter", "hgvsWellDefined": "NP_001244894.1:p.Lys732_Ile1382delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysArgGlnThrAsnValGlyArgAlaLeuThrGluLeuGlySerArgGlyProLysTyrGlnValSerLeuPheArgPheCysValGlySerTrpAlaThrGlyAsnThrPhePheLeuSerSerIleLysProGlySerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019649" }, { "coordinates": [ { "allele": "T", "end": 2337, "endIntronDirection": "+", "endIntronOffset": 5770, "referenceAllele": "A", "start": 2337, "startIntronDirection": "+", "startIntronOffset": 5769 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.1:c.2128+5770A>T" ], "proteinEffect": { "hgvs": "NP_001244895.1:n.2128+5770A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS019650" }, { "@id": "http://reg.genome.network/allele/PA203532", "coordinates": [ { "allele": "T", "end": 2610, "referenceAllele": "A", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.2:c.2401A>T" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Lys801Ter", "hgvsWellDefined": "NP_957705.1:p.Lys801_Ile1406delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044977" }, { "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "A", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.1:n.2402A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052002" }, { "coordinates": [ { "allele": "T", "end": 2610, "referenceAllele": "A", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.1:n.2610A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052003" }, { "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "A", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.1:c.2401A>T" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Lys801Ter", "hgvsWellDefined": "XP_011507667.1:p.Lys801_Asn1349delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspIleSerGlyGluGluLysGlyAsnLysAsnHisLeuAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076633" }, { "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "A", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509366.1:c.2401A>T" ], "proteinEffect": { "hgvs": "XP_011507668.1:p.Lys801Ter", "hgvsWellDefined": "XP_011507668.1:p.Lys801_Tyr1336delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076634" }, { "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "A", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509367.1:c.2401A>T" ], "proteinEffect": { "hgvs": "XP_011507669.1:p.Lys801Ter", "hgvsWellDefined": "XP_011507669.1:p.Lys801_Thr1297delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluCysTrpGlnMetThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076635" }, { "coordinates": [ { "allele": "T", "end": 1984, "referenceAllele": "A", "start": 1983 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509368.1:c.1819A>T" ], "proteinEffect": { "hgvs": "XP_011507670.1:p.Lys607Ter", "hgvsWellDefined": "XP_011507670.1:p.Lys607_Ile1212delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076636" }, { "coordinates": [ { "allele": "T", "end": 1517, "referenceAllele": "A", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.1:c.844A>T" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Lys282Ter", "hgvsWellDefined": "XP_011507671.1:p.Lys282_Ile887delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076637" }, { "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "A", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.2:c.2401A>T" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Lys801Ter", "hgvsWellDefined": "XP_011507667.1:p.Lys801_Asn1349delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspIleSerGlyGluGluLysGlyAsnLysAsnHisLeuAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541251" }, { "coordinates": [ { "allele": "T", "end": 1323, "referenceAllele": "A", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.2:c.844A>T" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Lys282Ter", "hgvsWellDefined": "XP_011507671.1:p.Lys282_Ile887delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541252" }, { "coordinates": [ { "allele": "T", "end": 2302, "referenceAllele": "A", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000851.1:c.1558A>T" ], "proteinEffect": { "hgvs": "XP_016856340.1:p.Lys520Ter", "hgvsWellDefined": "XP_016856340.1:p.Lys520_Ile1125delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557131" }, { "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "A", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000852.1:c.2401A>T" ], "proteinEffect": { "hgvs": "XP_016856341.1:p.Lys801Ter", "hgvsWellDefined": "XP_016856341.1:p.Lys801_Ile1451delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysArgGlnThrAsnValGlyArgAlaLeuThrGluLeuGlySerArgGlyProLysTyrGlnValSerLeuPheArgPheCysValGlySerTrpAlaThrGlyAsnThrPhePheLeuSerSerIleLysProGlySerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557132" }, { "@id": "http://reg.genome.network/allele/PA203532", "coordinates": [ { "allele": "T", "end": 2562, "referenceAllele": "A", "start": 2561 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.3:c.2401A>T" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Lys801Ter", "hgvsWellDefined": "NP_957705.1:p.Lys801_Ile1406delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS673211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.2401A>T" }, "RefSeq": { "hgvs": "NM_201253.3:c.2401A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Lys801Ter" }, "RefSeq": { "hgvs": "NP_957705.1:p.Lys801Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826192267", "coordinates": [ { "allele": "T", "end": 2226, "referenceAllele": "A", "start": 2225 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.2:c.2065A>T" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Lys689Ter", "hgvsWellDefined": "NP_001180569.1:p.Lys689_Ile1294delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679252" }, { "@id": "http://reg.genome.network/allele/PA2826446803", "coordinates": [ { "allele": "T", "end": 2491, "referenceAllele": "A", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.2:c.2194A>T" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Lys732Ter", "hgvsWellDefined": "NP_001244894.1:p.Lys732_Ile1382delinsProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysArgGlnThrAsnValGlyArgAlaLeuThrGluLeuGlySerArgGlyProLysTyrGlnValSerLeuPheArgPheCysValGlySerTrpAlaThrGlyAsnThrPhePheLeuSerSerIleLysProGlySerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680747" }, { "coordinates": [ { "allele": "T", "end": 2354, "referenceAllele": "A", "start": 2353 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.2:n.2354A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702513" }, { "coordinates": [ { "allele": "T", "end": 2562, "referenceAllele": "A", "start": 2561 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.2:n.2562A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702514" }, { "coordinates": [ { "allele": "T", "end": 2289, "endIntronDirection": "+", "endIntronOffset": 5770, "referenceAllele": "A", "start": 2289, "startIntronDirection": "+", "startIntronOffset": 5769 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.2:c.2128+5770A>T" ], "proteinEffect": { "hgvs": "NP_001244895.1:n.2128+5770A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS714892" } ], "type": "nucleotide" }