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{ "allele": "T", "end": 442, "referenceAllele": "C", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000555587.5:c.442C>T" ], "proteinEffect": { "hgvs": "ENSP00000451262.1:p.Gln148Ter", "hgvsWellDefined": "ENSP00000451262.1:p.Gln148_Ser761delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS371552" }, { "coordinates": [ { "allele": "T", "end": 1719, "endIntronDirection": "-", "endIntronOffset": 2750, "referenceAllele": "C", "start": 1719, "startIntronDirection": "-", "startIntronOffset": 2751 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000556336.5:c.1682-2751C>T" ], "proteinEffect": { "hgvs": "ENSP00000450445.1:n.1682-2751C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS372145" }, { "coordinates": [ { "allele": "T", "end": 1941, "referenceAllele": "C", "start": 1940 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000557771.5:c.1903C>T" ], "proteinEffect": { "hgvs": "ENSP00000451219.1:p.Gln635Ter", "hgvsWellDefined": "ENSP00000451219.1:p.Gln635_Ser1248delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373296" }, { "@id": "http://reg.genome.network/allele/PA891857932", "coordinates": [ { "allele": "T", "end": 2017, "referenceAllele": "C", "start": 2016 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_020366.3:c.2017C>T" ], "proteinEffect": { "hgvs": "NP_065099.3:p.Gln673Ter", "hgvsWellDefined": "NP_065099.3:p.Gln673_Ser1286delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036344" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267879.2:c.943C>T" ], "proteinEffect": { "hgvs": "XP_005267936.1:p.Gln315Ter", "hgvsWellDefined": "XP_005267936.1:p.Gln315_Ser929delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065540" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "C", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267880.2:c.910C>T" ], "proteinEffect": { "hgvs": "XP_005267937.1:p.Gln304Ter", "hgvsWellDefined": "XP_005267937.1:p.Gln304_Ser918delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065541" }, { "coordinates": [ { "allele": "T", "end": 502, "referenceAllele": "C", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267881.2:c.391C>T" ], "proteinEffect": { "hgvs": "XP_005267938.1:p.Gln131Ter", "hgvsWellDefined": "XP_005267938.1:p.Gln131_Ser745delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065542" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536978.1:c.943C>T" ], "proteinEffect": { "hgvs": "XP_011535280.1:p.Gln315Ter", "hgvsWellDefined": "XP_011535280.1:p.Gln315_Ser928delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103948" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "-", "endIntronOffset": 69, "referenceAllele": "C", "start": 862, "startIntronDirection": "-", "startIntronOffset": 70 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536979.1:c.797-70C>T" ], "proteinEffect": { "hgvs": "XP_011535281.1:n.797-70C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS103949" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 147, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 146 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536980.1:c.796+147C>T" ], "proteinEffect": { "hgvs": "XP_011535282.1:n.796+147C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS103950" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536981.1:c.943C>T" ], "proteinEffect": { "hgvs": "XP_011535283.1:p.Gln315Ter", "hgvsWellDefined": "XP_011535283.1:p.Gln315_Ser764delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103951" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 147, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 146 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536982.1:c.796+147C>T" ], "proteinEffect": { "hgvs": "XP_011535284.1:n.796+147C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS103952" }, { "coordinates": [ { "allele": "T", "end": 1999, "referenceAllele": "C", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536983.1:c.1984C>T" ], "proteinEffect": { "hgvs": "XP_011535285.1:p.Gln662Ter", "hgvsWellDefined": "XP_011535285.1:p.Gln662_Ser1275delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103953" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267881.3:c.391C>T" ], "proteinEffect": { "hgvs": "XP_005267938.1:p.Gln131Ter", "hgvsWellDefined": "XP_005267938.1:p.Gln131_Ser745delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536479" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_017021473.1:c.943C>T" ], "proteinEffect": { "hgvs": "XP_016876962.1:p.Gln315Ter", "hgvsWellDefined": "XP_016876962.1:p.Gln315_Ser763delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572674" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449663.1:c.943C>T" ], "proteinEffect": { "hgvs": "XP_024305431.1:p.Gln315Ter", "hgvsWellDefined": "XP_024305431.1:p.Gln315_Ser927delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583210" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449664.1:c.943C>T" ], "proteinEffect": { "hgvs": "XP_024305432.1:p.Gln315Ter", "hgvsWellDefined": "XP_024305432.1:p.Gln315_Ser762delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583211" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 147, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 146 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449665.1:c.796+147C>T" ], "proteinEffect": { "hgvs": "XP_024305433.1:n.796+147C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS583212" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 147, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 146 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449666.1:c.796+147C>T" ], "proteinEffect": { "hgvs": "XP_024305434.1:n.796+147C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS583213" }, { "coordinates": [ { "allele": "T", "end": 754, "endIntronDirection": "-", "endIntronOffset": 2750, "referenceAllele": "C", "start": 754, "startIntronDirection": "-", "startIntronOffset": 2751 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377523.1:c.689-2751C>T" ], "proteinEffect": { "hgvs": "NP_001364452.1:n.689-2751C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS695273" }, { "@id": "http://reg.genome.network/allele/PA2828731757", "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377948.1:c.943C>T" ], "proteinEffect": { "hgvs": "NP_001364877.1:p.Gln315Ter", "hgvsWellDefined": "NP_001364877.1:p.Gln315_Ser928delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721330" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 147, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 146 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377949.1:c.796+147C>T" ], "proteinEffect": { "hgvs": "NP_001364878.1:n.796+147C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721331" }, { "coordinates": [ { "allele": "T", "end": 754, "endIntronDirection": "-", "endIntronOffset": 2750, "referenceAllele": "C", "start": 754, "startIntronDirection": "-", "startIntronOffset": 2751 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377950.1:c.689-2751C>T" ], "proteinEffect": { "hgvs": "NP_001364879.1:n.689-2751C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721332" }, { "coordinates": [ { "allele": "T", "end": 348, "endIntronDirection": "-", "endIntronOffset": 2750, "referenceAllele": "C", "start": 348, "startIntronDirection": "-", "startIntronOffset": 2751 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377951.1:c.191-2751C>T" ], "proteinEffect": { "hgvs": "NP_001364880.1:n.191-2751C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721333" }, { "@id": "http://reg.genome.network/allele/PA891857932", "coordinates": [ { "allele": "T", "end": 2132, "referenceAllele": "C", "start": 2131 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_020366.4:c.2017C>T" ], "proteinEffect": { "hgvs": "NP_065099.3:p.Gln673Ter", "hgvsWellDefined": "NP_065099.3:p.Gln673_Ser1286delinsProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000400017.7:c.2017C>T" }, "RefSeq": { "hgvs": "NM_020366.4:c.2017C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382895.2:p.Gln673Ter" }, "RefSeq": { "hgvs": "NP_065099.3:p.Gln673Ter" } } } } ], "type": "nucleotide" }