{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10581631", "communityStandardTitle": [ "NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237974[alleleid]", "alleleId": 237974, "preferredName": "NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/236479", "RCV": [ "RCV000225597", "RCV001854803" ], "variationId": 236479 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197403862C>T?assembly=hg19", "id": "chr1:g.197403862C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197434732C>T?assembly=hg38", "id": "chr1:g.197434732C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/878853371", "rs": 878853371 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197434732-C-T?dataset=gnomad_r4", "id": "1-197434732-C-T", "variant": "1:197434732 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 197434732, "referenceAllele": "C", "start": 197434731 } ], "hgvs": [ "NC_000001.11:g.197434732C>T", "CM000663.2:g.197434732C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 197403862, "referenceAllele": "C", "start": 197403861 } ], "hgvs": [ "NC_000001.10:g.197403862C>T", "CM000663.1:g.197403862C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 195670485, "referenceAllele": "C", "start": 195670484 } ], "hgvs": [ "NC_000001.9:g.195670485C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 171455, "referenceAllele": "C", "start": 171454 } ], "hgvs": [ "NG_008483.1:g.171455C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001118" }, { "coordinates": [ { "allele": "T", "end": 238271, "referenceAllele": "C", "start": 238270 } ], "hgvs": [ "NG_008483.2:g.238271C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3030, "referenceAllele": "C", "start": 3029 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.8:c.2869C>T" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Gln957Ter", "hgvsWellDefined": "ENSP00000356370.3:p.Gln957_Ile1406delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.2869C>T" }, "RefSeq": { "hgvs": "NM_201253.3:c.2869C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Gln957Ter" }, "RefSeq": { "hgvs": "NP_957705.1:p.Gln957Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3004, "referenceAllele": "C", "start": 3003 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000638467.1:c.2869C>T" ], "proteinEffect": { "hgvs": "ENSP00000491102.1:p.Gln957Ter", "hgvsWellDefined": "ENSP00000491102.1:p.Gln957_Tyr1376delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764542" }, { "coordinates": [ { "allele": "T", "end": 1850, "referenceAllele": "C", "start": 1849 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000681519.1:c.1750C>T" ], "proteinEffect": { "hgvs": "ENSP00000505267.1:p.Gln584Ter", "hgvsWellDefined": "ENSP00000505267.1:p.Gln584_Tyr1003delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781125" }, { "coordinates": [ { "allele": "T", "end": 1870, "referenceAllele": "C", "start": 1869 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367397.1:c.1012C>T" ], "proteinEffect": { "hgvs": "ENSP00000356367.1:p.Gln338Ter", "hgvsWellDefined": "ENSP00000356367.1:p.Gln338_Trp674delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266364" }, { "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367399.6:c.2533C>T" ], "proteinEffect": { "hgvs": "ENSP00000356369.2:p.Gln845Ter", "hgvsWellDefined": "ENSP00000356369.2:p.Gln845_Ile1294delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266365" }, { "coordinates": [ { "allele": "T", "end": 3004, "referenceAllele": "C", "start": 3003 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.7:c.2869C>T" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Gln957Ter", "hgvsWellDefined": "ENSP00000356370.3:p.Gln957_Ile1406delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266366" }, { "coordinates": [ { "allele": "T", "end": 3004, "referenceAllele": "C", "start": 3003 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000484075.5:c.2869C>T" ], "proteinEffect": { "hgvs": "ENSP00000433932.1:p.Gln957Ter", "hgvsWellDefined": "ENSP00000433932.1:p.Gln957_Tyr1376delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323413" }, { "coordinates": [ { "allele": "T", "end": 3213, "referenceAllele": "C", "start": 3212 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000535699.5:c.2797C>T" ], "proteinEffect": { "hgvs": "ENSP00000438786.1:p.Gln933Ter", "hgvsWellDefined": "ENSP00000438786.1:p.Gln933_Ile1382delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359878" }, { "coordinates": [ { "allele": "T", "end": 2337, "endIntronDirection": "-", "endIntronOffset": 867, "referenceAllele": "C", "start": 2337, "startIntronDirection": "-", "startIntronOffset": 868 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000538660.5:c.2129-868C>T" ], "proteinEffect": { "hgvs": "ENSP00000438091.1:n.2129-868C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS361440" }, { "@id": "http://reg.genome.network/allele/PA2826192445", "coordinates": [ { "allele": "T", "end": 2742, "referenceAllele": "C", "start": 2741 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.1:c.2533C>T" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Gln845Ter", "hgvsWellDefined": "NP_001180569.1:p.Gln845_Ile1294delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016470" }, { "@id": "http://reg.genome.network/allele/PA2826446982", "coordinates": [ { "allele": "T", "end": 3136, "referenceAllele": "C", "start": 3135 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.1:c.2797C>T" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Gln933Ter", "hgvsWellDefined": "NP_001244894.1:p.Gln933_Ile1382delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019649" }, { "coordinates": [ { "allele": "T", "end": 2337, "endIntronDirection": "-", "endIntronOffset": 867, "referenceAllele": "C", "start": 2337, "startIntronDirection": "-", "startIntronOffset": 868 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.1:c.2129-868C>T" ], "proteinEffect": { "hgvs": "NP_001244895.1:n.2129-868C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS019650" }, { "@id": "http://reg.genome.network/allele/PA645486169", "coordinates": [ { "allele": "T", "end": 3078, "referenceAllele": "C", "start": 3077 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.2:c.2869C>T" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Gln957Ter", "hgvsWellDefined": "NP_957705.1:p.Gln957_Ile1406delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044977" }, { "coordinates": [ { "allele": "T", "end": 2870, "referenceAllele": "C", "start": 2869 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.1:n.2870C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052002" }, { "coordinates": [ { "allele": "T", "end": 3078, "referenceAllele": "C", "start": 3077 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.1:n.3078C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052003" }, { "coordinates": [ { "allele": "T", "end": 3003, "referenceAllele": "C", "start": 3002 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.1:c.2869C>T" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Gln957Ter", "hgvsWellDefined": "XP_011507667.1:p.Gln957_Asn1349delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspIleSerGlyGluGluLysGlyAsnLysAsnHisLeuAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076633" }, { "coordinates": [ { "allele": "T", "end": 3003, "referenceAllele": "C", "start": 3002 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509366.1:c.2869C>T" ], "proteinEffect": { "hgvs": "XP_011507668.1:p.Gln957Ter", "hgvsWellDefined": "XP_011507668.1:p.Gln957_Tyr1336delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076634" }, { "coordinates": [ { "allele": "T", "end": 3003, "referenceAllele": "C", "start": 3002 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509367.1:c.2869C>T" ], "proteinEffect": { "hgvs": "XP_011507669.1:p.Gln957Ter", "hgvsWellDefined": "XP_011507669.1:p.Gln957_Thr1297delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluCysTrpGlnMetThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076635" }, { "coordinates": [ { "allele": "T", "end": 2452, "referenceAllele": "C", "start": 2451 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509368.1:c.2287C>T" ], "proteinEffect": { "hgvs": "XP_011507670.1:p.Gln763Ter", "hgvsWellDefined": "XP_011507670.1:p.Gln763_Ile1212delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076636" }, { "coordinates": [ { "allele": "T", "end": 1985, "referenceAllele": "C", "start": 1984 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.1:c.1312C>T" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Gln438Ter", "hgvsWellDefined": "XP_011507671.1:p.Gln438_Ile887delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076637" }, { "coordinates": [ { "allele": "T", "end": 3003, "referenceAllele": "C", "start": 3002 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.2:c.2869C>T" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Gln957Ter", "hgvsWellDefined": "XP_011507667.1:p.Gln957_Asn1349delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspIleSerGlyGluGluLysGlyAsnLysAsnHisLeuAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541251" }, { "coordinates": [ { "allele": "T", "end": 1791, "referenceAllele": "C", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.2:c.1312C>T" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Gln438Ter", "hgvsWellDefined": "XP_011507671.1:p.Gln438_Ile887delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541252" }, { "coordinates": [ { "allele": "T", "end": 2770, "referenceAllele": "C", "start": 2769 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000851.1:c.2026C>T" ], "proteinEffect": { "hgvs": "XP_016856340.1:p.Gln676Ter", "hgvsWellDefined": "XP_016856340.1:p.Gln676_Ile1125delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557131" }, { "coordinates": [ { "allele": "T", "end": 3138, "referenceAllele": "C", "start": 3137 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000852.1:c.3004C>T" ], "proteinEffect": { "hgvs": "XP_016856341.1:p.Gln1002Ter", "hgvsWellDefined": "XP_016856341.1:p.Gln1002_Ile1451delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557132" }, { "@id": "http://reg.genome.network/allele/PA645486169", "coordinates": [ { "allele": "T", "end": 3030, "referenceAllele": "C", "start": 3029 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.3:c.2869C>T" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Gln957Ter", "hgvsWellDefined": "NP_957705.1:p.Gln957_Ile1406delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS673211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.2869C>T" }, "RefSeq": { "hgvs": "NM_201253.3:c.2869C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Gln957Ter" }, "RefSeq": { "hgvs": "NP_957705.1:p.Gln957Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826192445", "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.2:c.2533C>T" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Gln845Ter", "hgvsWellDefined": "NP_001180569.1:p.Gln845_Ile1294delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679252" }, { "@id": "http://reg.genome.network/allele/PA2826446982", "coordinates": [ { "allele": "T", "end": 3094, "referenceAllele": "C", "start": 3093 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.2:c.2797C>T" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Gln933Ter", "hgvsWellDefined": "NP_001244894.1:p.Gln933_Ile1382delinsSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680747" }, { "coordinates": [ { "allele": "T", "end": 2822, "referenceAllele": "C", "start": 2821 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.2:n.2822C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702513" }, { "coordinates": [ { "allele": "T", "end": 3030, "referenceAllele": "C", "start": 3029 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.2:n.3030C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702514" }, { "coordinates": [ { "allele": "T", "end": 2289, "endIntronDirection": "-", "endIntronOffset": 867, "referenceAllele": "C", "start": 2289, "startIntronDirection": "-", "startIntronOffset": 868 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.2:c.2129-868C>T" ], "proteinEffect": { "hgvs": "NP_001244895.1:n.2129-868C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS714892" } ], "type": "nucleotide" }