{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10581688", "communityStandardTitle": [ "NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=238063[alleleid]", "alleleId": 238063, "preferredName": "NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/236506", "RCV": [ "RCV000225543", "RCV001198056" ], "variationId": 236506 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.21786006A>T?assembly=hg19", "id": "chr14:g.21786006A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.21317847A>T?assembly=hg38", "id": "chr14:g.21317847A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/878853392", "rs": 878853392 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-21317847-A-T?dataset=gnomad_r4", "id": "14-21317847-A-T", "variant": "14:21317847 A / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 21317847, "referenceAllele": "A", "start": 21317846 } ], "hgvs": [ "NC_000014.9:g.21317847A>T", "CM000676.2:g.21317847A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 21786006, "referenceAllele": "A", "start": 21786005 } ], "hgvs": [ "NC_000014.8:g.21786006A>T", "CM000676.1:g.21786006A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 20855846, "referenceAllele": "A", "start": 20855845 } ], "hgvs": [ "NC_000014.7:g.20855846A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 34871, "referenceAllele": "A", "start": 34870 } ], "hgvs": [ "NG_008933.1:g.34871A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001311" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "A", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000400017.7:c.1303A>T" ], "proteinEffect": { "hgvs": "ENSP00000382895.2:p.Lys435Ter", "hgvsWellDefined": "ENSP00000382895.2:p.Lys435_Ser1286delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753892", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000400017.7:c.1303A>T" }, "RefSeq": { "hgvs": "NM_020366.4:c.1303A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382895.2:p.Lys435Ter" }, "RefSeq": { "hgvs": "NP_065099.3:p.Lys435Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 309, "referenceAllele": "A", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000382933.8:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000372391.4:p.Lys77Ter", "hgvsWellDefined": "ENSP00000372391.4:p.Lys77_Ser612delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273905" }, { "coordinates": [ { "allele": "T", "end": 1303, "referenceAllele": "A", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000400017.6:c.1303A>T" ], "proteinEffect": { "hgvs": "ENSP00000382895.2:p.Lys435Ter", "hgvsWellDefined": "ENSP00000382895.2:p.Lys435_Ser1286delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278879" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "A", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000556336.5:c.1222A>T" ], "proteinEffect": { "hgvs": "ENSP00000450445.1:p.Lys408Ter", "hgvsWellDefined": "ENSP00000450445.1:p.Lys408_Ser943delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS372145" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000557351.1:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000452215.1:p.Lys77Ter", "hgvsWellDefined": "ENSP00000452215.1:p.Lys77Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS372953" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "A", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000557771.5:c.1222A>T" ], "proteinEffect": { "hgvs": "ENSP00000451219.1:p.Lys408Ter", "hgvsWellDefined": "ENSP00000451219.1:p.Lys408_Ser1248delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373296" }, { "@id": "http://reg.genome.network/allele/PA645418364", "coordinates": [ { "allele": "T", "end": 1303, "referenceAllele": "A", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_020366.3:c.1303A>T" ], "proteinEffect": { "hgvs": "NP_065099.3:p.Lys435Ter", "hgvsWellDefined": "NP_065099.3:p.Lys435_Ser1286delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036344" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267879.2:c.229A>T" ], "proteinEffect": { "hgvs": "XP_005267936.1:p.Lys77Ter", "hgvsWellDefined": "XP_005267936.1:p.Lys77_Ser929delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065540" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267880.2:c.229A>T" ], "proteinEffect": { "hgvs": "XP_005267937.1:p.Lys77Ter", "hgvsWellDefined": "XP_005267937.1:p.Lys77_Ser918delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065541" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536978.1:c.229A>T" ], "proteinEffect": { "hgvs": "XP_011535280.1:p.Lys77Ter", "hgvsWellDefined": "XP_011535280.1:p.Lys77_Ser928delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103948" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536979.1:c.229A>T" ], "proteinEffect": { "hgvs": "XP_011535281.1:p.Lys77Ter", "hgvsWellDefined": "XP_011535281.1:p.Lys77_Ser857delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103949" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536980.1:c.229A>T" ], "proteinEffect": { "hgvs": "XP_011535282.1:p.Lys77Ter", "hgvsWellDefined": "XP_011535282.1:p.Lys77_Ser814delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103950" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536981.1:c.229A>T" ], "proteinEffect": { "hgvs": "XP_011535283.1:p.Lys77Ter", "hgvsWellDefined": "XP_011535283.1:p.Lys77_Ser764delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103951" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536982.1:c.229A>T" ], "proteinEffect": { "hgvs": "XP_011535284.1:p.Lys77Ter", "hgvsWellDefined": "XP_011535284.1:p.Lys77_Ser649delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103952" }, { "coordinates": [ { "allele": "T", "end": 1285, "referenceAllele": "A", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536983.1:c.1270A>T" ], "proteinEffect": { "hgvs": "XP_011535285.1:p.Lys424Ter", "hgvsWellDefined": "XP_011535285.1:p.Lys424_Ser1275delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103953" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_017021473.1:c.229A>T" ], "proteinEffect": { "hgvs": "XP_016876962.1:p.Lys77Ter", "hgvsWellDefined": "XP_016876962.1:p.Lys77_Ser763delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572674" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449663.1:c.229A>T" ], "proteinEffect": { "hgvs": "XP_024305431.1:p.Lys77Ter", "hgvsWellDefined": "XP_024305431.1:p.Lys77_Ser927delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583210" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449664.1:c.229A>T" ], "proteinEffect": { "hgvs": "XP_024305432.1:p.Lys77Ter", "hgvsWellDefined": "XP_024305432.1:p.Lys77_Ser762delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583211" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449665.1:c.229A>T" ], "proteinEffect": { "hgvs": "XP_024305433.1:p.Lys77Ter", "hgvsWellDefined": "XP_024305433.1:p.Lys77_Ser648delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583212" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449666.1:c.229A>T" ], "proteinEffect": { "hgvs": "XP_024305434.1:p.Lys77Ter", "hgvsWellDefined": "XP_024305434.1:p.Lys77_Ser647delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583213" }, { "@id": "http://reg.genome.network/allele/PA2828722712", "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377523.1:c.229A>T" ], "proteinEffect": { "hgvs": "NP_001364452.1:p.Lys77Ter", "hgvsWellDefined": "NP_001364452.1:p.Lys77_Ser612delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695273" }, { "@id": "http://reg.genome.network/allele/PA2828731621", "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377948.1:c.229A>T" ], "proteinEffect": { "hgvs": "NP_001364877.1:p.Lys77Ter", "hgvsWellDefined": "NP_001364877.1:p.Lys77_Ser928delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721330" }, { "@id": "http://reg.genome.network/allele/PA2828732029", "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377949.1:c.229A>T" ], "proteinEffect": { "hgvs": "NP_001364878.1:p.Lys77Ter", "hgvsWellDefined": "NP_001364878.1:p.Lys77_Ser648delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721331" }, { "@id": "http://reg.genome.network/allele/PA2573074596", "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377950.1:c.229A>T" ], "proteinEffect": { "hgvs": "NP_001364879.1:p.Lys77Ter", "hgvsWellDefined": "NP_001364879.1:p.Lys77_Ser612delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721332" }, { "@id": "http://reg.genome.network/allele/PA645418364", "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "A", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_020366.4:c.1303A>T" ], "proteinEffect": { "hgvs": "NP_065099.3:p.Lys435Ter", "hgvsWellDefined": "NP_065099.3:p.Lys435_Ser1286delinsAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGluGlnLeuLysAspValAlaTyrGlyThrArgProLeuSerLeuCysLeuGluThrLeuProAlaHisGlyAspGluAspLysValAspIleSerLeuLeuHisGlnGlyGluAsnLeuPheGluLeuHisIleHisGlnAlaPheLeuThrSerAlaAlaLeuAlaGlnAlaGlyAspThrGlnProThrThrPheCysThrTyrSerPheTyrAspPheGluThrHisCysThrProLeuSerValGlyProGlnProLeuTyrAspPheThrSerGlnTyrValMetGluThrAspSerLeuPheLeuHisTyrLeuGlnGluAlaSerAlaArgLeuAspIleHisGlnAlaMetAlaSerGluHisSerThrLeuAlaAlaGlyTrpIleCysPheAspArgValLeuGluThrValGluLysValHisGlyLeuAlaThrLeuIleGlyAlaGlyGlyGluGluPheGlyValLeuGluTyrTrpMetArgLeuArgPheProIleLysProSerLeuGlnAlaCysAsnLysArgLysLysAlaGlnValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000400017.7:c.1303A>T" }, "RefSeq": { "hgvs": "NM_020366.4:c.1303A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382895.2:p.Lys435Ter" }, "RefSeq": { "hgvs": "NP_065099.3:p.Lys435Ter" } } } } ], "type": "nucleotide" }