{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7089216", "communityStandardTitle": [ "NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=238066[alleleid]", "alleleId": 238066, "preferredName": "NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/236507", "RCV": [ "RCV000225680", "RCV002516255" ], "variationId": 236507 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-21793489-C-T", "id": "14-21793489-C-T", "variant": "14:21793489 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.21793489C>T?assembly=hg19", "id": "chr14:g.21793489C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.21325330C>T?assembly=hg38", "id": "chr14:g.21325330C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/577932201", "rs": 577932201 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-21793489-C-T?dataset=gnomad_r2_1", "id": "14-21793489-C-T", "variant": "14:21793489 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-21325330-C-T?dataset=gnomad_r3", "id": "14-21325330-C-T", "variant": "14:21325330 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-21325330-C-T?dataset=gnomad_r4", "id": "14-21325330-C-T", "variant": "14:21325330 C / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 21325330, "referenceAllele": "C", "start": 21325329 } ], "hgvs": [ "NC_000014.9:g.21325330C>T", "CM000676.2:g.21325330C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 21793489, "referenceAllele": "C", "start": 21793488 } ], "hgvs": [ "NC_000014.8:g.21793489C>T", "CM000676.1:g.21793489C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 20863329, "referenceAllele": "C", "start": 20863328 } ], "hgvs": [ "NC_000014.7:g.20863329C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 42354, "referenceAllele": "C", "start": 42353 } ], "hgvs": [ "NG_008933.1:g.42354C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001311" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2429, "referenceAllele": "C", "start": 2428 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000400017.7:c.2314C>T" ], "proteinEffect": { "hgvs": "ENSP00000382895.2:p.Gln772Ter", "hgvsWellDefined": "ENSP00000382895.2:p.Gln772_Ser1286delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753892", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000400017.7:c.2314C>T" }, "RefSeq": { "hgvs": "NM_020366.4:c.2314C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382895.2:p.Gln772Ter" }, "RefSeq": { "hgvs": "NP_065099.3:p.Gln772Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 768, "endIntronDirection": "-", "endIntronOffset": 2292, "referenceAllele": "C", "start": 768, "startIntronDirection": "-", "startIntronOffset": 2293 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000382933.8:c.689-2293C>T" ], "proteinEffect": { "hgvs": "ENSP00000372391.4:n.689-2293C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS273905" }, { "coordinates": [ { "allele": "T", "end": 2314, "referenceAllele": "C", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000400017.6:c.2314C>T" ], "proteinEffect": { "hgvs": "ENSP00000382895.2:p.Gln772Ter", "hgvsWellDefined": "ENSP00000382895.2:p.Gln772_Ser1286delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278879" }, { "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000553500.5:n.427C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS369903" }, { "coordinates": [ { "allele": "T", "end": 1246, "referenceAllele": "C", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000553927.1:n.1246C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS370243" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000555322.5:c.741C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS371344" }, { "coordinates": [ { "allele": "T", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000555489.5:c.507C>T" ], "proteinEffect": { "hgvs": "ENSP00000451044.1:n.507C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS371474" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000555587.5:c.739C>T" ], "proteinEffect": { "hgvs": "ENSP00000451262.1:p.Gln247Ter", "hgvsWellDefined": "ENSP00000451262.1:p.Gln247_Ser761delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS371552" }, { "coordinates": [ { "allele": "T", "end": 1719, "endIntronDirection": "-", "endIntronOffset": 2292, "referenceAllele": "C", "start": 1719, "startIntronDirection": "-", "startIntronOffset": 2293 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000556336.5:c.1682-2293C>T" ], "proteinEffect": { "hgvs": "ENSP00000450445.1:n.1682-2293C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS372145" }, { "coordinates": [ { "allele": "T", "end": 2238, "referenceAllele": "C", "start": 2237 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000557771.5:c.2200C>T" ], "proteinEffect": { "hgvs": "ENSP00000451219.1:p.Gln734Ter", "hgvsWellDefined": "ENSP00000451219.1:p.Gln734_Ser1248delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373296" }, { "@id": "http://reg.genome.network/allele/PA645418428", "coordinates": [ { "allele": "T", "end": 2314, "referenceAllele": "C", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_020366.3:c.2314C>T" ], "proteinEffect": { "hgvs": "NP_065099.3:p.Gln772Ter", "hgvsWellDefined": "NP_065099.3:p.Gln772_Ser1286delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036344" }, { "coordinates": [ { "allele": "T", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267879.2:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_005267936.1:p.Gln414Ter", "hgvsWellDefined": "XP_005267936.1:p.Gln414_Ser929delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065540" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267880.2:c.1207C>T" ], "proteinEffect": { "hgvs": "XP_005267937.1:p.Gln403Ter", "hgvsWellDefined": "XP_005267937.1:p.Gln403_Ser918delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065541" }, { "coordinates": [ { "allele": "T", "end": 799, "referenceAllele": "C", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267881.2:c.688C>T" ], "proteinEffect": { "hgvs": "XP_005267938.1:p.Gln230Ter", "hgvsWellDefined": "XP_005267938.1:p.Gln230_Ser745delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065542" }, { "coordinates": [ { "allele": "T", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536978.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011535280.1:p.Gln414Ter", "hgvsWellDefined": "XP_011535280.1:p.Gln414_Ser928delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103948" }, { "coordinates": [ { "allele": "T", "end": 1090, "referenceAllele": "C", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536979.1:c.1024C>T" ], "proteinEffect": { "hgvs": "XP_011535281.1:p.Gln342Ter", "hgvsWellDefined": "XP_011535281.1:p.Gln342_Ser857delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103949" }, { "coordinates": [ { "allele": "T", "end": 961, "referenceAllele": "C", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536980.1:c.895C>T" ], "proteinEffect": { "hgvs": "XP_011535282.1:p.Gln299Ter", "hgvsWellDefined": "XP_011535282.1:p.Gln299_Ser814delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103950" }, { "coordinates": [ { "allele": "T", "end": 1207, "endIntronDirection": "+", "endIntronOffset": 260, "referenceAllele": "C", "start": 1207, "startIntronDirection": "+", "startIntronOffset": 259 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536981.1:c.1141+260C>T" ], "proteinEffect": { "hgvs": "XP_011535283.1:n.1141+260C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS103951" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 605, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 604 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536982.1:c.796+605C>T" ], "proteinEffect": { "hgvs": "XP_011535284.1:n.796+605C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS103952" }, { "coordinates": [ { "allele": "T", "end": 2296, "referenceAllele": "C", "start": 2295 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536983.1:c.2281C>T" ], "proteinEffect": { "hgvs": "XP_011535285.1:p.Gln761Ter", "hgvsWellDefined": "XP_011535285.1:p.Gln761_Ser1275delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103953" }, { "coordinates": [ { "allele": "T", "end": 801, "referenceAllele": "C", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267881.3:c.688C>T" ], "proteinEffect": { "hgvs": "XP_005267938.1:p.Gln230Ter", "hgvsWellDefined": "XP_005267938.1:p.Gln230_Ser745delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536479" }, { "coordinates": [ { "allele": "T", "end": 1207, "endIntronDirection": "+", "endIntronOffset": 260, "referenceAllele": "C", "start": 1207, "startIntronDirection": "+", "startIntronOffset": 259 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_017021473.1:c.1141+260C>T" ], "proteinEffect": { "hgvs": "XP_016876962.1:n.1141+260C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS572674" }, { "coordinates": [ { "allele": "T", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449663.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_024305431.1:p.Gln414Ter", "hgvsWellDefined": "XP_024305431.1:p.Gln414_Ser927delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583210" }, { "coordinates": [ { "allele": "T", "end": 1207, "endIntronDirection": "+", "endIntronOffset": 260, "referenceAllele": "C", "start": 1207, "startIntronDirection": "+", "startIntronOffset": 259 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449664.1:c.1141+260C>T" ], "proteinEffect": { "hgvs": "XP_024305432.1:n.1141+260C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS583211" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 605, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 604 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449665.1:c.796+605C>T" ], "proteinEffect": { "hgvs": "XP_024305433.1:n.796+605C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS583212" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 605, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 604 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449666.1:c.796+605C>T" ], "proteinEffect": { "hgvs": "XP_024305434.1:n.796+605C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS583213" }, { "coordinates": [ { "allele": "T", "end": 754, "endIntronDirection": "-", "endIntronOffset": 2292, "referenceAllele": "C", "start": 754, "startIntronDirection": "-", "startIntronOffset": 2293 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377523.1:c.689-2293C>T" ], "proteinEffect": { "hgvs": "NP_001364452.1:n.689-2293C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS695273" }, { "@id": "http://reg.genome.network/allele/PA2828731814", "coordinates": [ { "allele": "T", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377948.1:c.1240C>T" ], "proteinEffect": { "hgvs": "NP_001364877.1:p.Gln414Ter", "hgvsWellDefined": "NP_001364877.1:p.Gln414_Ser928delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721330" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 605, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 604 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377949.1:c.796+605C>T" ], "proteinEffect": { "hgvs": "NP_001364878.1:n.796+605C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721331" }, { "coordinates": [ { "allele": "T", "end": 754, "endIntronDirection": "-", "endIntronOffset": 2292, "referenceAllele": "C", "start": 754, "startIntronDirection": "-", "startIntronOffset": 2293 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377950.1:c.689-2293C>T" ], "proteinEffect": { "hgvs": "NP_001364879.1:n.689-2293C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721332" }, { "coordinates": [ { "allele": "T", "end": 348, "endIntronDirection": "-", "endIntronOffset": 2292, "referenceAllele": "C", "start": 348, "startIntronDirection": "-", "startIntronOffset": 2293 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377951.1:c.191-2293C>T" ], "proteinEffect": { "hgvs": "NP_001364880.1:n.191-2293C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721333" }, { "@id": "http://reg.genome.network/allele/PA645418428", "coordinates": [ { "allele": "T", "end": 2429, "referenceAllele": "C", "start": 2428 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_020366.4:c.2314C>T" ], "proteinEffect": { "hgvs": "NP_065099.3:p.Gln772Ter", "hgvsWellDefined": "NP_065099.3:p.Gln772_Ser1286delinsValTyrLeuSerThrAspValLeuGlyGlyArgLysAlaGlnGluGluGluPheArgSerGluSerTrpGluProGlnAsnGluLeuTrpIleGluIleThrLysCysCysGlyLeuArgSerArgTrpLeuGlyThrGlnProSerProTyrAlaValTyrArgPhePheThrPheSerAspHisAspThrAlaIleIleProAlaSerAsnAsnProTyrPheArgAspGlnAlaArgPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000400017.7:c.2314C>T" }, "RefSeq": { "hgvs": "NM_020366.4:c.2314C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382895.2:p.Gln772Ter" }, "RefSeq": { "hgvs": "NP_065099.3:p.Gln772Ter" } } } } ], "type": "nucleotide" }