{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA220674", "communityStandardTitle": [ "NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98764[alleleid]", "alleleId": 98764, "preferredName": "NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92857", "RCV": [ "RCV000179289", "RCV001074291", "RCV002514384" ], "variationId": 92857 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.38176683C>A?assembly=hg19", "id": "chrX:g.38176683C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.38317430C>A?assembly=hg38", "id": "chrX:g.38317430C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/369037463", "rs": 369037463 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 38317430, "referenceAllele": "C", "start": 38317429 } ], "hgvs": [ "NC_000023.11:g.38317430C>A", "CM000685.2:g.38317430C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 38176683, "referenceAllele": "C", "start": 38176682 } ], "hgvs": [ "NC_000023.10:g.38176683C>A", "CM000685.1:g.38176683C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 38061627, "referenceAllele": "C", "start": 38061626 } ], "hgvs": [ "NC_000023.9:g.38061627C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 15106, "referenceAllele": "G", "start": 15105 } ], "hgvs": [ "NG_009553.1:g.15106G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001607" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000642170.1:n.915G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766595" }, { "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000642373.1:c.*84G>T" ], "proteinEffect": { "hgvs": "ENSP00000496030.1:n.*84G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766705" }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000642395.2:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000493468.2:p.Glu169Ter", "hgvsWellDefined": "ENSP00000493468.2:p.Glu169_Leu815delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766720" }, { "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "G", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000642558.1:c.412G>T" ], "proteinEffect": { "hgvs": "ENSP00000496427.1:p.Glu138Ter", "hgvsWellDefined": "ENSP00000496427.1:p.Glu138Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS766810" }, { "coordinates": [ { "allele": "T", "end": 665, "referenceAllele": "G", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000642739.1:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000493596.1:p.Glu169Ter", "hgvsWellDefined": "ENSP00000493596.1:p.Glu169_Ser673delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysMetGluPheArgSerCysCysProGlyTrpSerAlaMetAlaArgSerTrpLeuThrThrIleLeuProProArgPheLysArgPheSerCysLeuSerLeuProSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766904" }, { "coordinates": [ { "allele": "T", "end": 653, "referenceAllele": "G", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000644238.1:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000496728.1:p.Glu169Ter", "hgvsWellDefined": "ENSP00000496728.1:p.Glu169_Leu642delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767715" }, { "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000644337.1:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000494557.1:p.Glu169Ter", "hgvsWellDefined": "ENSP00000494557.1:p.Glu169_Leu753delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767768" }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000645032.1:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000495537.1:p.Glu169Ter", "hgvsWellDefined": "ENSP00000495537.1:p.Glu169_Lys1152delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768134", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645032.1:c.505G>T" }, "RefSeq": { "hgvs": "NM_001034853.2:c.505G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495537.1:p.Glu169Ter" }, "RefSeq": { "hgvs": "NP_001030025.1:p.Glu169Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000645124.1:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000496446.1:p.Glu169Ter", "hgvsWellDefined": "ENSP00000496446.1:p.Glu169_Glu540delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysArgSerGlnArgArgArgLysGluGlnArgIleGlnLysGluMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768185" }, { "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000646020.1:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000494745.1:p.Glu169Ter", "hgvsWellDefined": "ENSP00000494745.1:p.Glu169_Leu508delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrValLeuLeuAspLeuLeuSerMetGlnSerLeuCysArgLeuLysProGluValProLysAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspMetArgPheHisArgValSerGlnAspGlyLeuAspLeuLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768653" }, { "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000647261.1:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000493681.1:p.Glu169Ter", "hgvsWellDefined": "ENSP00000493681.1:p.Glu169_Ile325delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAlaThrAlaMetLysLysLeuLeuLysLysLeuLeuLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769320" }, { "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "G", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000318842.11:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000322219.6:p.Glu169Ter", "hgvsWellDefined": "ENSP00000322219.6:p.Glu169_Leu815delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257585" }, { "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000339363.7:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000343671.3:p.Glu169Ter", "hgvsWellDefined": "ENSP00000343671.3:p.Glu169_Leu1020delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGlyAsnAspThrGlyGlnValGlyProGlnAlaAspThrAspGlyGluGlyLeuGlnLysGluValTyrArgHisGluAsnAsnAsnGlyValAspGlnLeuAspAlaLysGluIleGluLysGluSerAspGlyGlyHisSerGlnLysGluSerGluAlaGluGluIleAspSerGluLysGluThrLysLeuAlaGluIleAlaGlyMetLysAspLeuArgGluArgGluLysSerThrLysLysMetSerProPhePheGlyAsnLeuProAspArgGlyMetAsnThrGluSerGluGluAsnLysAspPheValLysLysArgGluSerCysLysGlnAspValIlePheAspSerGluArgGluSerValGluLysProAspSerTyrMetGluGlyAlaSerGluSerGlnGlnGlyIleAlaAspGlyPheGlnGlnProGluAlaIleGluPheSerSerGlyGluLysGluAspAspGluValGluThrAspGlnAsnIleArgTyrGlyArgLysLeuIleGluGlnGlyAsnGluLysGluThrLysProIleIleSerLysSerMetAlaLysTyrAspPheLysCysAspArgLeuSerGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260845" }, { "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000378505.6:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000367766.2:p.Glu169Ter", "hgvsWellDefined": "ENSP00000367766.2:p.Glu169_Lys1152delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272063" }, { "coordinates": [ { "allele": "A", "end": 278, "endIntronDirection": "-", "endIntronOffset": 348690, "referenceAllele": "C", "start": 278, "startIntronDirection": "-", "startIntronOffset": 348691 } ], "hgvs": [ "ENST00000465127.1:c.172-348691C>A" ], "proteinEffect": { "hgvs": "ENSP00000417050.1:n.172-348691C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS308795" }, { "coordinates": [ { "allele": "T", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000470183.1:n.198G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS312685" }, { "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000474584.5:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000418926.1:p.Glu169Ter", "hgvsWellDefined": "ENSP00000418926.1:p.Glu169_Gln480delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspThrHisHisGluProGluPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS316065" }, { "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "G", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "ENST00000482855.5:c.505G>T" ], "proteinEffect": { "hgvs": "ENSP00000419276.1:p.Glu169Ter", "hgvsWellDefined": "ENSP00000419276.1:p.Glu169_Val646delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluTyrSerAlaSerHisSerGlnIleValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS322452" }, { "@id": "http://reg.genome.network/allele/PA220675", "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_000328.2:c.505G>T" ], "proteinEffect": { "hgvs": "NP_000319.1:p.Glu169Ter", "hgvsWellDefined": "NP_000319.1:p.Glu169_Leu815delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006391" }, { "@id": "http://reg.genome.network/allele/PA2825376041", "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001034853.1:c.505G>T" ], "proteinEffect": { "hgvs": "NP_001030025.1:p.Glu169Ter", "hgvsWellDefined": "NP_001030025.1:p.Glu169_Lys1152delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009197" }, { "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "G", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "XM_005272633.1:c.505G>T" ], "proteinEffect": { "hgvs": "XP_005272690.1:p.Glu169Ter", "hgvsWellDefined": "XP_005272690.1:p.Glu169_Leu704delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067316" }, { "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "G", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "XM_011543940.1:c.505G>T" ], "proteinEffect": { "hgvs": "XP_011542242.1:p.Glu169Ter", "hgvsWellDefined": "XP_011542242.1:p.Glu169_Leu814delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrAsnGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110853" }, { "coordinates": [ { "allele": "T", "end": 680, "referenceAllele": "G", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "XM_005272633.3:c.505G>T" ], "proteinEffect": { "hgvs": "XP_005272690.1:p.Glu169Ter", "hgvsWellDefined": "XP_005272690.1:p.Glu169_Leu704delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537335" }, { "coordinates": [ { "allele": "T", "end": 680, "referenceAllele": "G", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "XM_011543940.3:c.505G>T" ], "proteinEffect": { "hgvs": "XP_011542242.1:p.Glu169Ter", "hgvsWellDefined": "XP_011542242.1:p.Glu169_Leu814delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrAsnGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555436" }, { "coordinates": [ { "allele": "T", "end": 680, "referenceAllele": "G", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "XM_017029712.2:c.505G>T" ], "proteinEffect": { "hgvs": "XP_016885201.1:p.Glu169Ter", "hgvsWellDefined": "XP_016885201.1:p.Glu169_Leu703delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrAsnGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579210" }, { "@id": "http://reg.genome.network/allele/PA2828223743", "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367245.1:c.505G>T" ], "proteinEffect": { "hgvs": "NP_001354174.1:p.Glu169Ter", "hgvsWellDefined": "NP_001354174.1:p.Glu169_Leu814delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrAsnGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664512" }, { "@id": "http://reg.genome.network/allele/PA2828224525", "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367246.1:c.505G>T" ], "proteinEffect": { "hgvs": "NP_001354175.1:p.Glu169Ter", "hgvsWellDefined": "NP_001354175.1:p.Glu169_Leu753delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664513" }, { "@id": "http://reg.genome.network/allele/PA2828225188", "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367247.1:c.505G>T" ], "proteinEffect": { "hgvs": "NP_001354176.1:p.Glu169Ter", "hgvsWellDefined": "NP_001354176.1:p.Glu169_Leu704delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664514" }, { "@id": "http://reg.genome.network/allele/PA916046267", "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "G", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367248.1:c.535G>T" ], "proteinEffect": { "hgvs": "NP_001354177.1:p.Glu179Ter", "hgvsWellDefined": "NP_001354177.1:p.Glu179_Leu714delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664515" }, { "@id": "http://reg.genome.network/allele/PA2828226201", "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367249.1:c.502G>T" ], "proteinEffect": { "hgvs": "NP_001354178.1:p.Glu168Ter", "hgvsWellDefined": "NP_001354178.1:p.Glu168_Leu703delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664516" }, { "@id": "http://reg.genome.network/allele/PA2828227048", "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367250.1:c.505G>T" ], "proteinEffect": { "hgvs": "NP_001354179.1:p.Glu169Ter", "hgvsWellDefined": "NP_001354179.1:p.Glu169_Leu703delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrAsnGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664517" }, { "@id": "http://reg.genome.network/allele/PA2828227672", "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001367251.1:c.505G>T" ], "proteinEffect": { "hgvs": "NP_001354180.1:p.Glu169Ter", "hgvsWellDefined": "NP_001354180.1:p.Glu169_Leu642delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664518" }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NR_159803.1:n.647G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673376" }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NR_159804.1:n.647G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673377" }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NR_159805.1:n.647G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673378" }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NR_159806.1:n.647G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673379" }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NR_159807.1:n.647G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673380" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NR_159808.1:n.915G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673381" }, { "@id": "http://reg.genome.network/allele/PA220675", "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_000328.3:c.505G>T" ], "proteinEffect": { "hgvs": "NP_000319.1:p.Glu169Ter", "hgvsWellDefined": "NP_000319.1:p.Glu169_Leu815delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674792" }, { "@id": "http://reg.genome.network/allele/PA2825376041", "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN010295", "geneNCBI_id": 6103, "geneSymbol": "RPGR", "hgvs": [ "NM_001034853.2:c.505G>T" ], "proteinEffect": { "hgvs": "NP_001030025.1:p.Glu169Ter", "hgvsWellDefined": "NP_001030025.1:p.Glu169_Lys1152delinsGlyGlnIleGlyLeuLysAsnValSerAsnValCysValProGlnGlnValThrIleGlyLysProValSerTrpIleSerCysGlyTyrTyrHisSerAlaPheValThrThrAspGlyGluLeuTyrValPheGlyGluProGluAsnGlyLysLeuGlyLeuProAsnGlnLeuLeuGlyAsnHisArgThrProGlnLeuValSerGluIleProGluLysValIleGlnValAlaCysGlyGlyGluHisThrValValLeuThrGluAsnAlaValTyrThrPheGlyLeuGlyGlnPheGlyGlnLeuGlyLeuGlyThrPheLeuPheGluThrSerGluProLysValIleGluAsnIleArgAspGlnThrIleSerTyrIleSerCysGlyGluAsnHisThrAlaLeuIleThrAspIleGlyLeuMetTyrThrPheGlyAspGlyArgHisGlyLysLeuGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675817", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645032.1:c.505G>T" }, "RefSeq": { "hgvs": "NM_001034853.2:c.505G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495537.1:p.Glu169Ter" }, "RefSeq": { "hgvs": "NP_001030025.1:p.Glu169Ter" } } } } ], "type": "nucleotide" }