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"XP_011521271.1:p.Lys233_Arg1209delinsThrGlnLeuArgArgLysGluAsnGluIleGluLeuSerLeuLeuGlnLeuArgGluGlnGlnAlaThrAspGlnArgSerAsnIleArgAspAsnValGluMetIleLysLeuHisLysGlnLeuValGluLysSerAsnAlaLeuSerAlaMetGluGlyLysPheIleGlnLeuGlnGluLysGlnArgThrLeuArgIleSerHisAspAlaLeuMetAlaAsnGlyAspGluLeuAsnMetGlnLeuLysGluGlnArgLeuLysCysCysSerLeuGluLysGlnLeuHisSerMetLysPheSerGluArgArgIleGluGluLeuGlnAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgArgGlnLeuPheThrCysIleIleSerPheAspLeuHisLysSerProValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090110" }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "A", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.1:c.697A>T" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Lys233Ter", "hgvsWellDefined": "XP_011521272.1:p.Lys233_Trp1128delinsThrGlnLeuArgArgLysGluAsnGluIleGluLeuSerLeuLeuGlnLeuArgGluGlnGlnAlaThrAspGlnArgSerAsnIleArgAspAsnValGluMetIleLysLeuHisLysGlnLeuValGluLysSerAsnAlaLeuSerAlaMetGluGlyLysPheIleGlnLeuGlnGluLysGlnArgThrLeuArgIleSerHisAspAlaLeuMetAlaAsnGlyAspGluLeuAsnMetGlnLeuLysGluGlnArgLeuLysCysCysSerLeuGluLysGlnLeuHisSerMetLysPheSerGluArgArgIleGluGluLeuGlnAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnAlaIleTyrIleValThrTyrSerSerLeuAspLeuSerGlyValSerSerArgSerAspSerSerTyrAlaPheTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090111" }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "A", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.1:c.697A>T" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Lys233Ter", "hgvsWellDefined": "XP_011521273.1:p.Lys233_Asp1113delinsThrGlnLeuArgArgLysGluAsnGluIleGluLeuSerLeuLeuGlnLeuArgGluGlnGlnAlaThrAspGlnArgSerAsnIleArgAspAsnValGluMetIleLysLeuHisLysGlnLeuValGluLysSerAsnAlaLeuSerAlaMetGluGlyLysPheIleGlnLeuGlnGluLysGlnArgThrLeuArgIleSerHisAspAlaLeuMetAlaAsnGlyAspGluLeuAsnMetGlnLeuLysGluGlnArgLeuLysCysCysSerLeuGluLysGlnLeuHisSerMetLysPheSerGluArgArgIleGluGluLeuGlnAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090112" }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "A", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522972.1:c.697A>T" ], "proteinEffect": { "hgvs": "XP_011521274.1:p.Lys233Ter", "hgvsWellDefined": "XP_011521274.1:p.Lys233_Asp1112delinsThrGlnLeuArgArgLysGluAsnGluIleGluLeuSerLeuLeuGlnLeuArgGluGlnGlnAlaThrAspGlnArgSerAsnIleArgAspAsnValGluMetIleLysLeuHisLysGlnLeuValGluLysSerAsnAlaLeuSerAlaMetGluGlyLysPheIleGlnLeuGlnGluLysGlnArgThrLeuArgIleSerHisAspAlaLeuMetAlaAsnGlyAspGluLeuAsnMetGlnLeuLysGluGlnArgLeuLysCysCysSerLeuGluLysGlnLeuHisSerMetLysPheSerGluArgArgIleGluGluLeuGlnAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090113" }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "A", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.1:c.697A>T" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Lys233Ter", "hgvsWellDefined": "XP_011521275.1:p.Lys233_Ser1108delinsThrGlnLeuArgArgLysGluAsnGluIleGluLeuSerLeuLeuGlnLeuArgGluGlnGlnAlaThrAspGlnArgSerAsnIleArgAspAsnValGluMetIleLysLeuHisLysGlnLeuValGluLysSerAsnAlaLeuSerAlaMetGluGlyLysPheIleGlnLeuGlnGluLysGlnArgThrLeuArgIleSerHisAspAlaLeuMetAlaAsnGlyAspGluLeuAsnMetGlnLeuLysGluGlnArgLeuLysCysCysSerLeuGluLysGlnLeuHisSerMetLysPheSerGluArgArgIleGluGluLeuGlnAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuLeuAlaGluThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090114" }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "A", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.1:n.729A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128947" }, { "coordinates": [ { "allele": "T", "end": 840, "referenceAllele": "A", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.3:c.697A>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Lys233Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511415" }, { "coordinates": [ { "allele": "T", "end": 840, "referenceAllele": "A", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.2:c.697A>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Lys233Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS512380" }, { "coordinates": [ { "allele": "T", "end": 840, "referenceAllele": "A", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.1:c.697A>T" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Lys233Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS516906" }, { "coordinates": [ { "allele": "T", "end": 840, "referenceAllele": "A", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.4:c.697A>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Lys233Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS525674" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.2:c.697A>T" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Lys233Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS534352" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.2:c.697A>T" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Lys233Ter", "hgvsWellDefined": "XP_011521272.1:p.Lys233_Trp1128delinsThrGlnLeuArgArgLysGluAsnGluIleGluLeuSerLeuLeuGlnLeuArgGluGlnGlnAlaThrAspGlnArgSerAsnIleArgAspAsnValGluMetIleLysLeuHisLysGlnLeuValGluLysSerAsnAlaLeuSerAlaMetGluGlyLysPheIleGlnLeuGlnGluLysGlnArgThrLeuArgIleSerHisAspAlaLeuMetAlaAsnGlyAspGluLeuAsnMetGlnLeuLysGluGlnArgLeuLysCysCysSerLeuGluLysGlnLeuHisSerMetLysPheSerGluArgArgIleGluGluLeuGlnAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnAlaIleTyrIleValThrTyrSerSerLeuAspLeuSerGlyValSerSerArgSerAspSerSerTyrAlaPheTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546829" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.3:c.697A>T" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Lys233Ter", "hgvsWellDefined": "XP_011521273.1:p.Lys233_Asp1113delinsThrGlnLeuArgArgLysGluAsnGluIleGluLeuSerLeuLeuGlnLeuArgGluGlnGlnAlaThrAspGlnArgSerAsnIleArgAspAsnValGluMetIleLysLeuHisLysGlnLeuValGluLysSerAsnAlaLeuSerAlaMetGluGlyLysPheIleGlnLeuGlnGluLysGlnArgThrLeuArgIleSerHisAspAlaLeuMetAlaAsnGlyAspGluLeuAsnMetGlnLeuLysGluGlnArgLeuLysCysCysSerLeuGluLysGlnLeuHisSerMetLysPheSerGluArgArgIleGluGluLeuGlnAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546830" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.3:c.697A>T" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Lys233Ter", "hgvsWellDefined": "XP_011521275.1:p.Lys233_Ser1108delinsThrGlnLeuArgArgLysGluAsnGluIleGluLeuSerLeuLeuGlnLeuArgGluGlnGlnAlaThrAspGlnArgSerAsnIleArgAspAsnValGluMetIleLysLeuHisLysGlnLeuValGluLysSerAsnAlaLeuSerAlaMetGluGlyLysPheIleGlnLeuGlnGluLysGlnArgThrLeuArgIleSerHisAspAlaLeuMetAlaAsnGlyAspGluLeuAsnMetGlnLeuLysGluGlnArgLeuLysCysCysSerLeuGluLysGlnLeuHisSerMetLysPheSerGluArgArgIleGluGluLeuGlnAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuLeuAlaGluThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546831" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023094.2:c.697A>T" ], "proteinEffect": { "hgvs": "XP_016878583.1:p.Lys233Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS573910" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023095.2:c.697A>T" ], "proteinEffect": { "hgvs": "XP_016878584.1:p.Lys233Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS573911" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023096.2:c.697A>T" ], "proteinEffect": { "hgvs": "XP_016878585.1:p.Lys233Ter", "hgvsWellDefined": "XP_016878585.1:p.Lys233_Asp1195delinsThrGlnLeuArgArgLysGluAsnGluIleGluLeuSerLeuLeuGlnLeuArgGluGlnGlnAlaThrAspGlnArgSerAsnIleArgAspAsnValGluMetIleLysLeuHisLysGlnLeuValGluLysSerAsnAlaLeuSerAlaMetGluGlyLysPheIleGlnLeuGlnGluLysGlnArgThrLeuArgIleSerHisAspAlaLeuMetAlaAsnGlyAspGluLeuAsnMetGlnLeuLysGluGlnArgLeuLysCysCysSerLeuGluLysGlnLeuHisSerMetLysPheSerGluArgArgIleGluGluLeuGlnAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgArgSerSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573912" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023097.2:c.697A>T" ], "proteinEffect": { "hgvs": "XP_016878586.1:p.Lys233Ter", "hgvsWellDefined": "XP_016878586.1:p.Lys233_Phe787delinsThrGlnLeuArgArgLysGluAsnGluIleGluLeuSerLeuLeuGlnLeuArgGluGlnGlnAlaThrAspGlnArgSerAsnIleArgAspAsnValGluMetIleLysLeuHisLysGlnLeuValGluLysSerAsnAlaLeuSerAlaMetGluGlyLysPheIleGlnLeuGlnGluLysGlnArgThrLeuArgIleSerHisAspAlaLeuMetAlaAsnGlyAspGluLeuAsnMetGlnLeuLysGluGlnArgLeuLysCysCysSerLeuGluLysGlnLeuHisSerMetLysPheSerGluArgArgIleGluGluLeuGlnAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerIleThrSerAlaMetGluAspLeuThrValSerThrIleLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573913" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023100.2:c.697A>T" ], "proteinEffect": { "hgvs": "XP_016878589.1:p.Lys233Ter", "hgvsWellDefined": "XP_016878589.1:p.Lys233_Ile578delinsThrGlnLeuArgArgLysGluAsnGluIleGluLeuSerLeuLeuGlnLeuArgGluGlnGlnAlaThrAspGlnArgSerAsnIleArgAspAsnValGluMetIleLysLeuHisLysGlnLeuValGluLysSerAsnAlaLeuSerAlaMetGluGlyLysPheIleGlnLeuGlnGluLysGlnArgThrLeuArgIleSerHisAspAlaLeuMetAlaAsnGlyAspGluLeuAsnMetGlnLeuLysGluGlnArgLeuLysCysCysSerLeuGluLysGlnLeuHisSerMetLysPheSerGluArgArgIleGluGluLeuGlnAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluGluAlaValSerLeuGlySerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573916" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.3:n.740A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610401" }, { "coordinates": [ { "allele": "T", "end": 761, "referenceAllele": "A", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.5:c.697A>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Lys233Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS668699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647211.2:c.697A>T" }, "RefSeq": { "hgvs": "NM_015272.5:c.697A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493946.1:p.Lys233Ter" }, "RefSeq": { "hgvs": "NP_056087.2:p.Lys233Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 761, "referenceAllele": "A", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.4:c.697A>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Lys233Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676952" }, { "coordinates": [ { "allele": "T", "end": 761, "referenceAllele": "A", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.2:c.697A>T" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Lys233Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS686996" }, { "coordinates": [ { "allele": "T", "end": 761, "referenceAllele": "A", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.3:c.697A>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Lys233Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS717273" } ], "type": "nucleotide" }