{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA170863", "communityStandardTitle": [ "NM_020366.4(RPGRIP1):c.2356C>T (p.Gln786Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166169[alleleid]", "alleleId": 166169, "preferredName": "NM_020366.4(RPGRIP1):c.2356C>T (p.Gln786Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156388", "RCV": [ "RCV000144470" ], "variationId": 156388 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.21793531C>T?assembly=hg19", "id": "chr14:g.21793531C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.21325372C>T?assembly=hg38", "id": "chr14:g.21325372C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587783019", "rs": 587783019 } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 21325372, "referenceAllele": "C", "start": 21325371 } ], "hgvs": [ "NC_000014.9:g.21325372C>T", "CM000676.2:g.21325372C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 21793531, "referenceAllele": "C", "start": 21793530 } ], "hgvs": [ "NC_000014.8:g.21793531C>T", "CM000676.1:g.21793531C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 20863371, "referenceAllele": "C", "start": 20863370 } ], "hgvs": [ "NC_000014.7:g.20863371C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 42396, "referenceAllele": "C", "start": 42395 } ], "hgvs": [ "NG_008933.1:g.42396C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001311" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2471, "referenceAllele": "C", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000400017.7:c.2356C>T" ], "proteinEffect": { "hgvs": "ENSP00000382895.2:p.Gln786Ter", "hgvsWellDefined": "ENSP00000382895.2:p.Gln786_Ser1286delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753892", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000400017.7:c.2356C>T" }, "RefSeq": { "hgvs": "NM_020366.4:c.2356C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382895.2:p.Gln786Ter" }, "RefSeq": { "hgvs": "NP_065099.3:p.Gln786Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 768, "endIntronDirection": "-", "endIntronOffset": 2250, "referenceAllele": "C", "start": 768, "startIntronDirection": "-", "startIntronOffset": 2251 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000382933.8:c.689-2251C>T" ], "proteinEffect": { "hgvs": "ENSP00000372391.4:n.689-2251C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS273905" }, { "coordinates": [ { "allele": "T", "end": 2356, "referenceAllele": "C", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000400017.6:c.2356C>T" ], "proteinEffect": { "hgvs": "ENSP00000382895.2:p.Gln786Ter", "hgvsWellDefined": "ENSP00000382895.2:p.Gln786_Ser1286delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278879" }, { "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000553500.5:n.469C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS369903" }, { "coordinates": [ { "allele": "T", "end": 1288, "referenceAllele": "C", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000553927.1:n.1288C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS370243" }, { "coordinates": [ { "allele": "T", "end": 783, "referenceAllele": "C", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000555322.5:c.783C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS371344" }, { "coordinates": [ { "allele": "T", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000555489.5:c.549C>T" ], "proteinEffect": { "hgvs": "ENSP00000451044.1:n.549C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS371474" }, { "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000555587.5:c.781C>T" ], "proteinEffect": { "hgvs": "ENSP00000451262.1:p.Gln261Ter", "hgvsWellDefined": "ENSP00000451262.1:p.Gln261_Ser761delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS371552" }, { "coordinates": [ { "allele": "T", "end": 1719, "endIntronDirection": "-", "endIntronOffset": 2250, "referenceAllele": "C", "start": 1719, "startIntronDirection": "-", "startIntronOffset": 2251 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000556336.5:c.1682-2251C>T" ], "proteinEffect": { "hgvs": "ENSP00000450445.1:n.1682-2251C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS372145" }, { "coordinates": [ { "allele": "T", "end": 2280, "referenceAllele": "C", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000557771.5:c.2242C>T" ], "proteinEffect": { "hgvs": "ENSP00000451219.1:p.Gln748Ter", "hgvsWellDefined": "ENSP00000451219.1:p.Gln748_Ser1248delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373296" }, { "@id": "http://reg.genome.network/allele/PA170864", "coordinates": [ { "allele": "T", "end": 2356, "referenceAllele": "C", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_020366.3:c.2356C>T" ], "proteinEffect": { "hgvs": "NP_065099.3:p.Gln786Ter", "hgvsWellDefined": "NP_065099.3:p.Gln786_Ser1286delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036344" }, { "coordinates": [ { "allele": "T", "end": 1348, "referenceAllele": "C", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267879.2:c.1282C>T" ], "proteinEffect": { "hgvs": "XP_005267936.1:p.Gln428Ter", "hgvsWellDefined": "XP_005267936.1:p.Gln428_Ser929delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065540" }, { "coordinates": [ { "allele": "T", "end": 1315, "referenceAllele": "C", "start": 1314 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267880.2:c.1249C>T" ], "proteinEffect": { "hgvs": "XP_005267937.1:p.Gln417Ter", "hgvsWellDefined": "XP_005267937.1:p.Gln417_Ser918delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065541" }, { "coordinates": [ { "allele": "T", "end": 841, "referenceAllele": "C", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267881.2:c.730C>T" ], "proteinEffect": { "hgvs": "XP_005267938.1:p.Gln244Ter", "hgvsWellDefined": "XP_005267938.1:p.Gln244_Ser745delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065542" }, { "coordinates": [ { "allele": "T", "end": 1348, "referenceAllele": "C", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536978.1:c.1282C>T" ], "proteinEffect": { "hgvs": "XP_011535280.1:p.Gln428Ter", "hgvsWellDefined": "XP_011535280.1:p.Gln428_Ser928delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103948" }, { "coordinates": [ { "allele": "T", "end": 1132, "referenceAllele": "C", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536979.1:c.1066C>T" ], "proteinEffect": { "hgvs": "XP_011535281.1:p.Gln356Ter", "hgvsWellDefined": "XP_011535281.1:p.Gln356_Ser857delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103949" }, { "coordinates": [ { "allele": "T", "end": 1003, "referenceAllele": "C", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536980.1:c.937C>T" ], "proteinEffect": { "hgvs": "XP_011535282.1:p.Gln313Ter", "hgvsWellDefined": "XP_011535282.1:p.Gln313_Ser814delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103950" }, { "coordinates": [ { "allele": "T", "end": 1207, "endIntronDirection": "+", "endIntronOffset": 302, "referenceAllele": "C", "start": 1207, "startIntronDirection": "+", "startIntronOffset": 301 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536981.1:c.1141+302C>T" ], "proteinEffect": { "hgvs": "XP_011535283.1:n.1141+302C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS103951" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 647, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 646 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536982.1:c.796+647C>T" ], "proteinEffect": { "hgvs": "XP_011535284.1:n.796+647C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS103952" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536983.1:c.2323C>T" ], "proteinEffect": { "hgvs": "XP_011535285.1:p.Gln775Ter", "hgvsWellDefined": "XP_011535285.1:p.Gln775_Ser1275delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103953" }, { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267881.3:c.730C>T" ], "proteinEffect": { "hgvs": "XP_005267938.1:p.Gln244Ter", "hgvsWellDefined": "XP_005267938.1:p.Gln244_Ser745delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536479" }, { "coordinates": [ { "allele": "T", "end": 1207, "endIntronDirection": "+", "endIntronOffset": 302, "referenceAllele": "C", "start": 1207, "startIntronDirection": "+", "startIntronOffset": 301 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_017021473.1:c.1141+302C>T" ], "proteinEffect": { "hgvs": "XP_016876962.1:n.1141+302C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS572674" }, { "coordinates": [ { "allele": "T", "end": 1348, "referenceAllele": "C", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449663.1:c.1282C>T" ], "proteinEffect": { "hgvs": "XP_024305431.1:p.Gln428Ter", "hgvsWellDefined": "XP_024305431.1:p.Gln428_Ser927delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583210" }, { "coordinates": [ { "allele": "T", "end": 1207, "endIntronDirection": "+", "endIntronOffset": 302, "referenceAllele": "C", "start": 1207, "startIntronDirection": "+", "startIntronOffset": 301 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449664.1:c.1141+302C>T" ], "proteinEffect": { "hgvs": "XP_024305432.1:n.1141+302C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS583211" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 647, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 646 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449665.1:c.796+647C>T" ], "proteinEffect": { "hgvs": "XP_024305433.1:n.796+647C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS583212" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 647, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 646 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449666.1:c.796+647C>T" ], "proteinEffect": { "hgvs": "XP_024305434.1:n.796+647C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS583213" }, { "coordinates": [ { "allele": "T", "end": 754, "endIntronDirection": "-", "endIntronOffset": 2250, "referenceAllele": "C", "start": 754, "startIntronDirection": "-", "startIntronOffset": 2251 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377523.1:c.689-2251C>T" ], "proteinEffect": { "hgvs": "NP_001364452.1:n.689-2251C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS695273" }, { "@id": "http://reg.genome.network/allele/PA2828731824", "coordinates": [ { "allele": "T", "end": 1348, "referenceAllele": "C", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377948.1:c.1282C>T" ], "proteinEffect": { "hgvs": "NP_001364877.1:p.Gln428Ter", "hgvsWellDefined": "NP_001364877.1:p.Gln428_Ser928delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721330" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 647, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 646 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377949.1:c.796+647C>T" ], "proteinEffect": { "hgvs": "NP_001364878.1:n.796+647C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721331" }, { "coordinates": [ { "allele": "T", "end": 754, "endIntronDirection": "-", "endIntronOffset": 2250, "referenceAllele": "C", "start": 754, "startIntronDirection": "-", "startIntronOffset": 2251 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377950.1:c.689-2251C>T" ], "proteinEffect": { "hgvs": "NP_001364879.1:n.689-2251C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721332" }, { "coordinates": [ { "allele": "T", "end": 348, "endIntronDirection": "-", "endIntronOffset": 2250, "referenceAllele": "C", "start": 348, "startIntronDirection": "-", "startIntronOffset": 2251 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377951.1:c.191-2251C>T" ], "proteinEffect": { "hgvs": "NP_001364880.1:n.191-2251C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721333" }, { "@id": "http://reg.genome.network/allele/PA170864", "coordinates": [ { "allele": "T", "end": 2471, "referenceAllele": "C", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_020366.4:c.2356C>T" ], "proteinEffect": { "hgvs": "NP_065099.3:p.Gln786Ter", "hgvsWellDefined": "NP_065099.3:p.Gln786_Ser1286delinsGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000400017.7:c.2356C>T" }, "RefSeq": { "hgvs": "NM_020366.4:c.2356C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382895.2:p.Gln786Ter" }, "RefSeq": { "hgvs": "NP_065099.3:p.Gln786Ter" } } } } ], "type": "nucleotide" }