{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA281341870", "communityStandardTitle": [ "NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=170123", "active": true, "id": "COSM170123" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=91061[alleleid]", "alleleId": 91061, "preferredName": "NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/80170", "RCV": [ "RCV001220267", "RCV004017384" ], "variationId": 80170 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.53682950G>A?assembly=hg19", "id": "chr16:g.53682950G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.53649038G>A?assembly=hg38", "id": "chr16:g.53649038G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267604575", "rs": 267604575 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53682950-G-A?dataset=gnomad_r2_1", "id": "16-53682950-G-A", "variant": "16:53682950 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53649038-G-A?dataset=gnomad_r3", "id": "16-53649038-G-A", "variant": "16:53649038 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53649038-G-A?dataset=gnomad_r4", "id": "16-53649038-G-A", "variant": "16:53649038 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 53649038, "referenceAllele": "G", "start": 53649037 } ], "hgvs": [ "NC_000016.10:g.53649038G>A", "CM000678.2:g.53649038G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 53682950, "referenceAllele": "G", "start": 53682949 } ], "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS779813" }, { "coordinates": [ { "allele": "T", "end": 2324, "referenceAllele": "C", "start": 2323 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000262135.8:c.2230C>T" ], "proteinEffect": { "hgvs": "ENSP00000262135.4:p.Arg744Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS250939" }, { "coordinates": [ { "allele": "T", "end": 2281, "referenceAllele": "C", "start": 2280 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000379925.7:c.2230C>T" ], "proteinEffect": { "hgvs": "ENSP00000369257.3:p.Arg744Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS272700" }, { "coordinates": [ { "allele": "T", "end": 2282, "referenceAllele": "C", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000563746.5:c.2230C>T" ], "proteinEffect": { "hgvs": "ENSP00000457889.1:p.Arg744Ter", "hgvsWellDefined": "ENSP00000457889.1:p.Arg744_Ala1281delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS377628" }, { "coordinates": [ { "allele": "T", "end": 2324, "referenceAllele": "C", "start": 2323 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000564374.5:c.2230C>T" ], "proteinEffect": { "hgvs": "ENSP00000456534.1:p.Arg744Ter", "hgvsWellDefined": "ENSP00000456534.1:p.Arg744_Tyr1253delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspGlyMetGlyGluSerValAlaGlnPheValGlnProThrIleAlaGluLeuGlnThrLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS378050" }, { "coordinates": [ { "allele": "T", "end": 2294, "referenceAllele": "C", "start": 2293 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000621565.4:c.2230C>T" ], "proteinEffect": { "hgvs": "ENSP00000480698.1:p.Arg744Ter", "hgvsWellDefined": "ENSP00000480698.1:p.Arg744_Ala1269delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405328" }, { "@id": "http://reg.genome.network/allele/PA2825661973", "coordinates": [ { "allele": "T", "end": 2294, "referenceAllele": "C", "start": 2293 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.1:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Arg744Ter", "hgvsWellDefined": "NP_001121369.1:p.Arg744_Ala1235delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011707" }, { "@id": "http://reg.genome.network/allele/PA2825661973", "coordinates": [ { "allele": "T", "end": 2369, "referenceAllele": "C", "start": 2368 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.2:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Arg744Ter", "hgvsWellDefined": "NP_001121369.1:p.Arg744_Ala1235delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011708" }, { "@id": "http://reg.genome.network/allele/PA2826934381", "coordinates": [ { "allele": "T", "end": 2369, "referenceAllele": "C", "start": 2368 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.1:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Arg744Ter", "hgvsWellDefined": "NP_001295263.1:p.Arg744_Ala1269delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026290" }, { "@id": "http://reg.genome.network/allele/PA1139740122", "coordinates": [ { "allele": "T", "end": 2294, "referenceAllele": "C", "start": 2293 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.2:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Arg744Ter", "hgvsWellDefined": "NP_056087.2:p.Arg744_Ala1315delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033885" }, { "@id": "http://reg.genome.network/allele/PA1139740122", "coordinates": [ { "allele": "T", "end": 2369, "referenceAllele": "C", "start": 2368 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.3:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Arg744Ter", "hgvsWellDefined": "NP_056087.2:p.Arg744_Ala1315delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033886" }, { "coordinates": [ { "allele": "T", "end": 2262, "referenceAllele": "C", "start": 2261 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255867.1:c.2230C>T" ], "proteinEffect": { "hgvs": "XP_005255924.1:p.Arg744Ter", "hgvsWellDefined": "XP_005255924.1:p.Arg744_Ala1281delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061084" }, { "coordinates": [ { "allele": "T", "end": 2274, "referenceAllele": "C", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.1:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Arg748Ter", "hgvsWellDefined": "XP_005255925.1:p.Arg748_Ala1273delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061085" }, { "coordinates": [ { "allele": "T", "end": 628, "referenceAllele": "C", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255871.2:c.475C>T" ], "proteinEffect": { "hgvs": "XP_005255928.1:p.Arg159Ter", "hgvsWellDefined": "XP_005255928.1:p.Arg159_Ala684delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061086" }, { "coordinates": [ { "allele": "T", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522968.1:c.2230C>T" ], "proteinEffect": { "hgvs": "XP_011521270.1:p.Arg744Ter", "hgvsWellDefined": "XP_011521270.1:p.Arg744_Ala1315delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090109" }, { "coordinates": [ { "allele": "T", "end": 2274, "referenceAllele": "C", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522969.1:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_011521271.1:p.Arg748Ter", "hgvsWellDefined": "XP_011521271.1:p.Arg748_Arg1209delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgArgGlnLeuPheThrCysIleIleSerPheAspLeuHisLysSerProValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090110" }, { "coordinates": [ { "allele": "T", "end": 2274, "referenceAllele": "C", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.1:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Arg748Ter", "hgvsWellDefined": "XP_011521272.1:p.Arg748_Trp1128delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnAlaIleTyrIleValThrTyrSerSerLeuAspLeuSerGlyValSerSerArgSerAspSerSerTyrAlaPheTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090111" }, { "coordinates": [ { "allele": "T", "end": 2274, "referenceAllele": "C", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.1:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Arg748Ter", "hgvsWellDefined": "XP_011521273.1:p.Arg748_Asp1113delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090112" }, { "coordinates": [ { "allele": "T", "end": 2274, "referenceAllele": "C", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522972.1:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_011521274.1:p.Arg748Ter", "hgvsWellDefined": "XP_011521274.1:p.Arg748_Asp1112delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090113" }, { "coordinates": [ { "allele": "T", "end": 2274, "referenceAllele": "C", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.1:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Arg748Ter", "hgvsWellDefined": "XP_011521275.1:p.Arg748_Ser1108delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuLeuAlaGluThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090114" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522974.1:c.475C>T" ], "proteinEffect": { "hgvs": "XP_011521276.1:p.Arg159Ter", "hgvsWellDefined": "XP_011521276.1:p.Arg159_Ala684delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090115" }, { "coordinates": [ { "allele": "T", "end": 2274, "referenceAllele": "C", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.1:n.2274C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128947" }, { "@id": "http://reg.genome.network/allele/PA2825661973", "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.3:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Arg744Ter", "hgvsWellDefined": "NP_001121369.1:p.Arg744_Ala1235delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511415" }, { "@id": "http://reg.genome.network/allele/PA2826934381", "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.2:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Arg744Ter", "hgvsWellDefined": "NP_001295263.1:p.Arg744_Ala1269delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512380" }, { "@id": "http://reg.genome.network/allele/PA2827321599", "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.1:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Arg744Ter", "hgvsWellDefined": "NP_001317467.1:p.Arg744_Ala1281delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516906" }, { "@id": "http://reg.genome.network/allele/PA1139740122", "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.4:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Arg744Ter", "hgvsWellDefined": "NP_056087.2:p.Arg744_Ala1315delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525674" }, { "coordinates": [ { "allele": "T", "end": 2285, "referenceAllele": "C", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.2:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Arg748Ter", "hgvsWellDefined": "XP_005255925.1:p.Arg748_Ala1273delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534352" }, { "coordinates": [ { "allele": "T", "end": 2285, "referenceAllele": "C", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.2:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Arg748Ter", "hgvsWellDefined": "XP_011521272.1:p.Arg748_Trp1128delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnAlaIleTyrIleValThrTyrSerSerLeuAspLeuSerGlyValSerSerArgSerAspSerSerTyrAlaPheTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546829" }, { "coordinates": [ { "allele": "T", "end": 2285, "referenceAllele": "C", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.3:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Arg748Ter", "hgvsWellDefined": "XP_011521273.1:p.Arg748_Asp1113delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546830" }, { "coordinates": [ { "allele": "T", "end": 2285, "referenceAllele": "C", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.3:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Arg748Ter", "hgvsWellDefined": "XP_011521275.1:p.Arg748_Ser1108delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuLeuAlaGluThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546831" }, { "coordinates": [ { "allele": "T", "end": 2285, "referenceAllele": "C", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023094.2:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_016878583.1:p.Arg748Ter", "hgvsWellDefined": "XP_016878583.1:p.Arg748_Ala1319delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573910" }, { "coordinates": [ { "allele": "T", "end": 2285, "referenceAllele": "C", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023095.2:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_016878584.1:p.Arg748Ter", "hgvsWellDefined": "XP_016878584.1:p.Arg748_Ala1239delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573911" }, { "coordinates": [ { "allele": "T", "end": 2285, "referenceAllele": "C", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023096.2:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_016878585.1:p.Arg748Ter", "hgvsWellDefined": "XP_016878585.1:p.Arg748_Asp1195delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgArgSerSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573912" }, { "coordinates": [ { "allele": "T", "end": 2285, "referenceAllele": "C", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023097.2:c.2242C>T" ], "proteinEffect": { "hgvs": "XP_016878586.1:p.Arg748Ter", "hgvsWellDefined": "XP_016878586.1:p.Arg748_Phe787delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerIleThrSerAlaMetGluAspLeuThrValSerThrIleLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573913" }, { "coordinates": [ { "allele": "T", "end": 1237, "referenceAllele": "C", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023098.1:c.475C>T" ], "proteinEffect": { "hgvs": "XP_016878587.1:p.Arg159Ter", "hgvsWellDefined": "XP_016878587.1:p.Arg159_Ala730delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573914" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023099.1:c.475C>T" ], "proteinEffect": { "hgvs": "XP_016878588.1:p.Arg159Ter", "hgvsWellDefined": "XP_016878588.1:p.Arg159_Ala730delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573915" }, { "coordinates": [ { "allele": "T", "end": 2285, "referenceAllele": "C", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.3:n.2285C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610401" }, { "@id": "http://reg.genome.network/allele/PA1139740122", "coordinates": [ { "allele": "T", "end": 2294, "referenceAllele": "C", "start": 2293 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.5:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Arg744Ter", "hgvsWellDefined": "NP_056087.2:p.Arg744_Ala1315delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647211.2:c.2230C>T" }, "RefSeq": { "hgvs": "NM_015272.5:c.2230C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493946.1:p.Arg744Ter" }, "RefSeq": { "hgvs": "NP_056087.2:p.Arg744Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825661973", "coordinates": [ { "allele": "T", "end": 2294, "referenceAllele": "C", "start": 2293 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.4:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Arg744Ter", "hgvsWellDefined": "NP_001121369.1:p.Arg744_Ala1235delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676952" }, { "@id": "http://reg.genome.network/allele/PA2827321599", "coordinates": [ { "allele": "T", "end": 2294, "referenceAllele": "C", "start": 2293 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.2:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Arg744Ter", "hgvsWellDefined": "NP_001317467.1:p.Arg744_Ala1281delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686996" }, { "@id": "http://reg.genome.network/allele/PA2826934381", "coordinates": [ { "allele": "T", "end": 2294, "referenceAllele": "C", "start": 2293 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.3:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Arg744Ter", "hgvsWellDefined": "NP_001295263.1:p.Arg744_Ala1269delinsLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717273" } ], "type": "nucleotide" }