{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA170083", "communityStandardTitle": [ "NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=414721", "active": true, "id": "COSM414721" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152885[alleleid]", "alleleId": 152885, "preferredName": "NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143167", "RCV": [ "RCV000132698", "RCV000179572", "RCV000792250", "RCV001002990", "RCV001073589", "RCV003453098", "RCV003453099" ], "variationId": 143167 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-197390534-C-T", "id": "1-197390534-C-T", "variant": "1:197390534 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197390534C>T?assembly=hg19", "id": "chr1:g.197390534C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197421404C>T?assembly=hg38", "id": "chr1:g.197421404C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/114342808", "rs": 114342808 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197390534-C-T?dataset=gnomad_r2_1", "id": "1-197390534-C-T", "variant": "1:197390534 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197421404-C-T?dataset=gnomad_r3", "id": "1-197421404-C-T", "variant": "1:197421404 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197421404-C-T?dataset=gnomad_r4", "id": "1-197421404-C-T", "variant": "1:197421404 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 197421404, "referenceAllele": "C", "start": 197421403 } ], "hgvs": [ "NC_000001.11:g.197421404C>T", "CM000663.2:g.197421404C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 197390534, "referenceAllele": "C", "start": 197390533 } ], "hgvs": [ "NC_000001.10:g.197390534C>T", "CM000663.1:g.197390534C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 195657157, "referenceAllele": "C", "start": 195657156 } ], "hgvs": [ "NC_000001.9:g.195657157C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 158127, "referenceAllele": "C", "start": 158126 } ], "hgvs": [ "NG_008483.1:g.158127C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001118" }, { "coordinates": [ { "allele": "T", "end": 224943, "referenceAllele": "C", "start": 224942 } ], "hgvs": [ "NG_008483.2:g.224943C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1737, "referenceAllele": "C", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.8:c.1576C>T" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Arg526Ter", "hgvsWellDefined": "ENSP00000356370.3:p.Arg526_Ile1406delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.1576C>T" }, "RefSeq": { "hgvs": "NM_201253.3:c.1576C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Arg526Ter" }, "RefSeq": { "hgvs": "NP_957705.1:p.Arg526Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1711, "referenceAllele": "C", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000638467.1:c.1576C>T" ], "proteinEffect": { "hgvs": "ENSP00000491102.1:p.Arg526Ter", "hgvsWellDefined": "ENSP00000491102.1:p.Arg526_Tyr1376delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764542" }, { "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000681519.1:c.457C>T" ], "proteinEffect": { "hgvs": "ENSP00000505267.1:p.Arg153Ter", "hgvsWellDefined": "ENSP00000505267.1:p.Arg153_Tyr1003delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781125" }, { "coordinates": [ { "allele": "T", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367397.1:c.-282C>T" ], "proteinEffect": { "hgvs": "ENSP00000356367.1:n.-282C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS266364" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367399.6:c.1240C>T" ], "proteinEffect": { "hgvs": "ENSP00000356369.2:p.Arg414Ter", "hgvsWellDefined": "ENSP00000356369.2:p.Arg414_Ile1294delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266365" }, { "coordinates": [ { "allele": "T", "end": 1711, "referenceAllele": "C", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.7:c.1576C>T" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Arg526Ter", "hgvsWellDefined": "ENSP00000356370.3:p.Arg526_Ile1406delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266366" }, { "coordinates": [ { "allele": "T", "end": 536, "referenceAllele": "C", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000476483.1:n.536C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317517" }, { "coordinates": [ { "allele": "T", "end": 1711, "referenceAllele": "C", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000484075.5:c.1576C>T" ], "proteinEffect": { "hgvs": "ENSP00000433932.1:p.Arg526Ter", "hgvsWellDefined": "ENSP00000433932.1:p.Arg526_Tyr1376delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323413" }, { "coordinates": [ { "allele": "T", "end": 1785, "referenceAllele": "C", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000535699.5:c.1369C>T" ], "proteinEffect": { "hgvs": "ENSP00000438786.1:p.Arg457Ter", "hgvsWellDefined": "ENSP00000438786.1:p.Arg457_Ile1382delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysArgGlnThrAsnValGlyArgAlaLeuThrGluLeuGlySerArgGlyProLysTyrGlnValSerLeuPheArgPheCysValGlySerTrpAlaThrGlyAsnThrPhePheLeuSerSerIleLysProGlySerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359878" }, { "coordinates": [ { "allele": "T", "end": 1785, "referenceAllele": "C", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000538660.5:c.1576C>T" ], "proteinEffect": { "hgvs": "ENSP00000438091.1:p.Arg526Ter", "hgvsWellDefined": "ENSP00000438091.1:p.Arg526_Ile870delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361440" }, { "@id": "http://reg.genome.network/allele/PA2826191958", "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "C", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.1:c.1240C>T" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Arg414Ter", "hgvsWellDefined": "NP_001180569.1:p.Arg414_Ile1294delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016470" }, { "@id": "http://reg.genome.network/allele/PA2826446496", "coordinates": [ { "allele": "T", "end": 1708, "referenceAllele": "C", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.1:c.1369C>T" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Arg457Ter", "hgvsWellDefined": "NP_001244894.1:p.Arg457_Ile1382delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysArgGlnThrAsnValGlyArgAlaLeuThrGluLeuGlySerArgGlyProLysTyrGlnValSerLeuPheArgPheCysValGlySerTrpAlaThrGlyAsnThrPhePheLeuSerSerIleLysProGlySerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019649" }, { "@id": "http://reg.genome.network/allele/PA2826447897", "coordinates": [ { "allele": "T", "end": 1785, "referenceAllele": "C", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.1:c.1576C>T" ], "proteinEffect": { "hgvs": "NP_001244895.1:p.Arg526Ter", "hgvsWellDefined": "NP_001244895.1:p.Arg526_Ile870delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019650" }, { "@id": "http://reg.genome.network/allele/PA170084", "coordinates": [ { "allele": "T", "end": 1785, "referenceAllele": "C", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.2:c.1576C>T" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Arg526Ter", "hgvsWellDefined": "NP_957705.1:p.Arg526_Ile1406delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044977" }, { "coordinates": [ { "allele": "T", "end": 1785, "referenceAllele": "C", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.1:n.1785C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052002" }, { "coordinates": [ { "allele": "T", "end": 1785, "referenceAllele": "C", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.1:n.1785C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052003" }, { "coordinates": [ { "allele": "T", "end": 1710, "referenceAllele": "C", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.1:c.1576C>T" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Arg526Ter", "hgvsWellDefined": "XP_011507667.1:p.Arg526_Asn1349delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspIleSerGlyGluGluLysGlyAsnLysAsnHisLeuAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076633" }, { "coordinates": [ { "allele": "T", "end": 1710, "referenceAllele": "C", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509366.1:c.1576C>T" ], "proteinEffect": { "hgvs": "XP_011507668.1:p.Arg526Ter", "hgvsWellDefined": "XP_011507668.1:p.Arg526_Tyr1336delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076634" }, { "coordinates": [ { "allele": "T", "end": 1710, "referenceAllele": "C", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509367.1:c.1576C>T" ], "proteinEffect": { "hgvs": "XP_011507669.1:p.Arg526Ter", "hgvsWellDefined": "XP_011507669.1:p.Arg526_Thr1297delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluCysTrpGlnMetThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076635" }, { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509368.1:c.994C>T" ], "proteinEffect": { "hgvs": "XP_011507670.1:p.Arg332Ter", "hgvsWellDefined": "XP_011507670.1:p.Arg332_Ile1212delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076636" }, { "coordinates": [ { "allele": "T", "end": 692, "referenceAllele": "C", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.1:c.19C>T" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Arg7Ter", "hgvsWellDefined": "XP_011507671.1:p.Arg7_Ile887delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076637" }, { "coordinates": [ { "allele": "T", "end": 1710, "referenceAllele": "C", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.2:c.1576C>T" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Arg526Ter", "hgvsWellDefined": "XP_011507667.1:p.Arg526_Asn1349delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspIleSerGlyGluGluLysGlyAsnLysAsnHisLeuAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541251" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.2:c.19C>T" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Arg7Ter", "hgvsWellDefined": "XP_011507671.1:p.Arg7_Ile887delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541252" }, { "coordinates": [ { "allele": "T", "end": 1477, "referenceAllele": "C", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000851.1:c.733C>T" ], "proteinEffect": { "hgvs": "XP_016856340.1:p.Arg245Ter", "hgvsWellDefined": "XP_016856340.1:p.Arg245_Ile1125delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557131" }, { "coordinates": [ { "allele": "T", "end": 1710, "referenceAllele": "C", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000852.1:c.1576C>T" ], "proteinEffect": { "hgvs": "XP_016856341.1:p.Arg526Ter", "hgvsWellDefined": "XP_016856341.1:p.Arg526_Ile1451delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysArgGlnThrAsnValGlyArgAlaLeuThrGluLeuGlySerArgGlyProLysTyrGlnValSerLeuPheArgPheCysValGlySerTrpAlaThrGlyAsnThrPhePheLeuSerSerIleLysProGlySerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557132" }, { "@id": "http://reg.genome.network/allele/PA170084", "coordinates": [ { "allele": "T", "end": 1737, "referenceAllele": "C", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.3:c.1576C>T" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Arg526Ter", "hgvsWellDefined": "NP_957705.1:p.Arg526_Ile1406delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS673211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.1576C>T" }, "RefSeq": { "hgvs": "NM_201253.3:c.1576C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Arg526Ter" }, "RefSeq": { "hgvs": "NP_957705.1:p.Arg526Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826191958", "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "C", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.2:c.1240C>T" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Arg414Ter", "hgvsWellDefined": "NP_001180569.1:p.Arg414_Ile1294delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679252" }, { "@id": "http://reg.genome.network/allele/PA2826446496", "coordinates": [ { "allele": "T", "end": 1666, "referenceAllele": "C", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.2:c.1369C>T" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Arg457Ter", "hgvsWellDefined": "NP_001244894.1:p.Arg457_Ile1382delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysArgGlnThrAsnValGlyArgAlaLeuThrGluLeuGlySerArgGlyProLysTyrGlnValSerLeuPheArgPheCysValGlySerTrpAlaThrGlyAsnThrPhePheLeuSerSerIleLysProGlySerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680747" }, { "coordinates": [ { "allele": "T", "end": 1737, "referenceAllele": "C", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.2:n.1737C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702513" }, { "coordinates": [ { "allele": "T", "end": 1737, "referenceAllele": "C", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.2:n.1737C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702514" }, { "@id": "http://reg.genome.network/allele/PA2826447897", "coordinates": [ { "allele": "T", "end": 1737, "referenceAllele": "C", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.2:c.1576C>T" ], "proteinEffect": { "hgvs": "NP_001244895.1:p.Arg526Ter", "hgvsWellDefined": "NP_001244895.1:p.Arg526_Ile870delinsSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714892" } ], "type": "nucleotide" }