{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412744540", "communityStandardTitle": [ "NM_001034853.2(RPGR):c.582G>A (p.Trp194Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.38176606C>T?assembly=hg19", "id": "chrX:g.38176606C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.38317353C>T?assembly=hg38", "id": "chrX:g.38317353C>T" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 38317353, "referenceAllele": "C", "start": 38317352 } ], "hgvs": [ "NC_000023.11:g.38317353C>T", "CM000685.2:g.38317353C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 38176606, "referenceAllele": "C", "start": 38176605 } ], "hgvs": [ "NC_000023.10:g.38176606C>T", "CM000685.1:g.38176606C>T" ], "referenceGenome": 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"ENSP00000493468.2:p.Trp194_Leu815delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766720" }, { "coordinates": [ { "allele": "A", "end": 637, "referenceAllele": "G", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000642558.1:c.489G>A" ], "proteinEffect": { "hgvs": "ENSP00000496427.1:p.Trp163Ter", "hgvsWellDefined": "ENSP00000496427.1:p.Trp163Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS766810" }, { "coordinates": [ { "allele": "A", "end": 742, "referenceAllele": "G", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000642739.1:c.582G>A" ], "proteinEffect": { "hgvs": "ENSP00000493596.1:p.Trp194Ter", "hgvsWellDefined": "ENSP00000493596.1:p.Trp194_Ser673delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysMetGluPheArgSerCysCysProGlyTrpSerAlaMetAlaArgSerTrpLeuThrThrIleLeuProProArgPheLysArgPheSerCysLeuSerLeuProSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766904" }, { "coordinates": [ { "allele": "A", "end": 730, "referenceAllele": "G", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000644238.1:c.582G>A" ], "proteinEffect": { "hgvs": "ENSP00000496728.1:p.Trp194Ter", "hgvsWellDefined": "ENSP00000496728.1:p.Trp194_Leu642delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767715" }, { "coordinates": [ { "allele": "A", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000644337.1:c.582G>A" ], "proteinEffect": { "hgvs": "ENSP00000494557.1:p.Trp194Ter", "hgvsWellDefined": "ENSP00000494557.1:p.Trp194_Leu753delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767768" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000645032.1:c.582G>A" ], "proteinEffect": { "hgvs": "ENSP00000495537.1:p.Trp194Ter", "hgvsWellDefined": "ENSP00000495537.1:p.Trp194_Lys1152delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768134", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645032.1:c.582G>A" }, "RefSeq": { "hgvs": "NM_001034853.2:c.582G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495537.1:p.Trp194Ter" }, "RefSeq": { "hgvs": "NP_001030025.1:p.Trp194Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 718, "referenceAllele": "G", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000645124.1:c.582G>A" ], "proteinEffect": { "hgvs": "ENSP00000496446.1:p.Trp194Ter", "hgvsWellDefined": "ENSP00000496446.1:p.Trp194_Glu540delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysArgSerGlnArgArgArgLysGluGlnArgIleGlnLysGluMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768185" }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "G", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000646020.1:c.582G>A" ], "proteinEffect": { "hgvs": "ENSP00000494745.1:p.Trp194Ter", "hgvsWellDefined": "ENSP00000494745.1:p.Trp194_Leu508delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrValLeuLeuAspLeuLeuSerMetGlnSerLeuCysArgLeuLysProGluValProLysAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspMetArgPheHisArgValSerGlnAspGlyLeuAspLeuLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768653" }, { "coordinates": [ { "allele": "A", "end": 759, "referenceAllele": "G", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000647261.1:c.582G>A" ], "proteinEffect": { "hgvs": "ENSP00000493681.1:p.Trp194Ter", "hgvsWellDefined": "ENSP00000493681.1:p.Trp194_Ile325delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAlaThrAlaMetLysLysLeuLeuLysLysLeuLeuLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769320" }, { "coordinates": [ { "allele": "A", "end": 779, "referenceAllele": "G", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000318842.11:c.582G>A" ], "proteinEffect": { "hgvs": "ENSP00000322219.6:p.Trp194Ter", "hgvsWellDefined": "ENSP00000322219.6:p.Trp194_Leu815delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257585" }, { "coordinates": [ { "allele": "A", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000339363.7:c.582G>A" ], "proteinEffect": { "hgvs": "ENSP00000343671.3:p.Trp194Ter", "hgvsWellDefined": "ENSP00000343671.3:p.Trp194_Leu1020delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGlyAsnAspThrGlyGlnValGlyProGlnAlaAspThrAspGlyGluGlyLeuGlnLysGluValTyrArgHisGluAsnAsnAsnGlyValAspGlnLeuAspAlaLysGluIleGluLysGluSerAspGlyGlyHisSerGlnLysGluSerGluAlaGluGluIleAspSerGluLysGluThrLysLeuAlaGluIleAlaGlyMetLysAspLeuArgGluArgGluLysSerThrLysLysMetSerProPhePheGlyAsnLeuProAspArgGlyMetAsnThrGluSerGluGluAsnLysAspPheValLysLysArgGluSerCysLysGlnAspValIlePheAspSerGluArgGluSerValGluLysProAspSerTyrMetGluGlyAlaSerGluSerGlnGlnGlyIleAlaAspGlyPheGlnGlnProGluAlaIleGluPheSerSerGlyGluLysGluAspAspGluValGluThrAspGlnAsnIleArgTyrGlyArgLysLeuIleGluGlnGlyAsnGluLysGluThrLysProIleIleSerLysSerMetAlaLysTyrAspPheLysCysAspArgLeuSerGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260845" }, { "coordinates": [ { "allele": "A", "end": 759, "referenceAllele": "G", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000378505.6:c.582G>A" ], "proteinEffect": { "hgvs": "ENSP00000367766.2:p.Trp194Ter", "hgvsWellDefined": "ENSP00000367766.2:p.Trp194_Lys1152delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272063" }, { "coordinates": [ { "allele": "T", "end": 278, "endIntronDirection": "-", "endIntronOffset": 348767, "referenceAllele": "C", "start": 278, "startIntronDirection": "-", "startIntronOffset": 348768 } ], "hgvs": [ "ENST00000465127.1:c.172-348768C>T" ], "proteinEffect": { "hgvs": "ENSP00000417050.1:n.172-348768C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS308795" }, { "coordinates": [ { "allele": "A", "end": 275, "referenceAllele": "G", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000470183.1:n.275G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS312685" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000474584.5:c.582G>A" ], "proteinEffect": { "hgvs": "ENSP00000418926.1:p.Trp194Ter", "hgvsWellDefined": "ENSP00000418926.1:p.Trp194_Gln480delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspThrHisHisGluProGluPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS316065" }, { "coordinates": [ { "allele": "A", "end": 637, "referenceAllele": "G", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000482855.5:c.582G>A" ], "proteinEffect": { "hgvs": "ENSP00000419276.1:p.Trp194Ter", "hgvsWellDefined": "ENSP00000419276.1:p.Trp194_Val646delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluTyrSerAlaSerHisSerGlnIleValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS322452" }, { "@id": "http://reg.genome.network/allele/PA226428", "coordinates": [ { "allele": "A", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_000328.2:c.582G>A" ], "proteinEffect": { "hgvs": "NP_000319.1:p.Trp194Ter", "hgvsWellDefined": "NP_000319.1:p.Trp194_Leu815delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006391" }, { "@id": "http://reg.genome.network/allele/PA2825376049", "coordinates": [ { "allele": "A", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001034853.1:c.582G>A" ], "proteinEffect": { "hgvs": "NP_001030025.1:p.Trp194Ter", "hgvsWellDefined": "NP_001030025.1:p.Trp194_Lys1152delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009197" }, { "coordinates": [ { "allele": "A", "end": 779, "referenceAllele": "G", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "XM_005272633.1:c.582G>A" ], "proteinEffect": { "hgvs": "XP_005272690.1:p.Trp194Ter", "hgvsWellDefined": "XP_005272690.1:p.Trp194_Leu704delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067316" }, { "coordinates": [ { "allele": "A", "end": 779, "referenceAllele": "G", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "XM_011543940.1:c.582G>A" ], "proteinEffect": { "hgvs": "XP_011542242.1:p.Trp194Ter", "hgvsWellDefined": "XP_011542242.1:p.Trp194_Leu814delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrAsnGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110853" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "G", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "XM_005272633.3:c.582G>A" ], "proteinEffect": { "hgvs": "XP_005272690.1:p.Trp194Ter", "hgvsWellDefined": "XP_005272690.1:p.Trp194_Leu704delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537335" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "G", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "XM_011543940.3:c.582G>A" ], "proteinEffect": { "hgvs": "XP_011542242.1:p.Trp194Ter", "hgvsWellDefined": "XP_011542242.1:p.Trp194_Leu814delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrAsnGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555436" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "G", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "XM_017029712.2:c.582G>A" ], "proteinEffect": { "hgvs": "XP_016885201.1:p.Trp194Ter", "hgvsWellDefined": "XP_016885201.1:p.Trp194_Leu703delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrAsnGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579210" }, { "@id": "http://reg.genome.network/allele/PA2828223757", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367245.1:c.582G>A" ], "proteinEffect": { "hgvs": "NP_001354174.1:p.Trp194Ter", "hgvsWellDefined": "NP_001354174.1:p.Trp194_Leu814delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrAsnGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664512" }, { "@id": "http://reg.genome.network/allele/PA2828224536", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367246.1:c.582G>A" ], "proteinEffect": { "hgvs": "NP_001354175.1:p.Trp194Ter", "hgvsWellDefined": "NP_001354175.1:p.Trp194_Leu753delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664513" }, { "@id": "http://reg.genome.network/allele/PA2828225208", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367247.1:c.582G>A" ], "proteinEffect": { "hgvs": "NP_001354176.1:p.Trp194Ter", "hgvsWellDefined": "NP_001354176.1:p.Trp194_Leu704delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664514" }, { "@id": "http://reg.genome.network/allele/PA916046271", "coordinates": [ { "allele": "A", "end": 650, "referenceAllele": "G", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367248.1:c.612G>A" ], "proteinEffect": { "hgvs": "NP_001354177.1:p.Trp204Ter", "hgvsWellDefined": "NP_001354177.1:p.Trp204_Leu714delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664515" }, { "@id": "http://reg.genome.network/allele/PA2828226220", "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367249.1:c.579G>A" ], "proteinEffect": { "hgvs": "NP_001354178.1:p.Trp193Ter", "hgvsWellDefined": "NP_001354178.1:p.Trp193_Leu703delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664516" }, { "@id": "http://reg.genome.network/allele/PA2828227068", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367250.1:c.582G>A" ], "proteinEffect": { "hgvs": "NP_001354179.1:p.Trp194Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS664517" }, { "@id": "http://reg.genome.network/allele/PA2828227681", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367251.1:c.582G>A" ], "proteinEffect": { "hgvs": "NP_001354180.1:p.Trp194Ter", "hgvsWellDefined": "NP_001354180.1:p.Trp194_Leu642delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664518" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NR_159803.1:n.724G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673376" }, { "coordinates": [ { "allele": "A", "end": 670, "endIntronDirection": "+", "endIntronOffset": 54, "referenceAllele": "G", "start": 670, "startIntronDirection": "+", "startIntronOffset": 53 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NR_159804.1:n.670+54G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673377" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NR_159805.1:n.724G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673378" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NR_159806.1:n.724G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673379" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NR_159807.1:n.724G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673380" }, { "coordinates": [ { "allele": "A", "end": 992, "referenceAllele": "G", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NR_159808.1:n.992G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673381" }, { "@id": "http://reg.genome.network/allele/PA226428", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_000328.3:c.582G>A" ], "proteinEffect": { "hgvs": "NP_000319.1:p.Trp194Ter", "hgvsWellDefined": "NP_000319.1:p.Trp194_Leu815delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674792" }, { "@id": "http://reg.genome.network/allele/PA2825376049", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001034853.2:c.582G>A" ], "proteinEffect": { "hgvs": "NP_001030025.1:p.Trp194Ter", "hgvsWellDefined": "NP_001030025.1:p.Trp194_Lys1152delinsIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675817", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645032.1:c.582G>A" }, "RefSeq": { "hgvs": "NM_001034853.2:c.582G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495537.1:p.Trp194Ter" }, "RefSeq": { "hgvs": "NP_001030025.1:p.Trp194Ter" } } } } ], "type": "nucleotide" }