{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA114732", "communityStandardTitle": [ "NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16112[alleleid]", "alleleId": 16112, "preferredName": "NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1073", "RCV": [ "RCV000001128", "RCV003764506" ], "variationId": 1073 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.53705492G>A?assembly=hg19", "id": "chr16:g.53705492G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.53671580G>A?assembly=hg38", "id": "chr16:g.53671580G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918202", "rs": 121918202 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53671580-G-A?dataset=gnomad_r4", "id": "16-53671580-G-A", "variant": "16:53671580 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 53671580, "referenceAllele": "G", "start": 53671579 } ], "hgvs": [ "NC_000016.10:g.53671580G>A", "CM000678.2:g.53671580G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 53705492, "referenceAllele": "G", "start": 53705491 } ], "hgvs": [ "NC_000016.9:g.53705492G>A", "CM000678.1:g.53705492G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 52262993, "referenceAllele": "G", "start": 52262992 } ], "hgvs": [ "NC_000016.8:g.52262993G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 37280, "referenceAllele": "C", "start": 37279 } ], "hgvs": [ "NG_008991.2:g.37280C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001362" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000262135.9:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000262135.4:p.Gln345Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS742281" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000621565.5:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000480698.1:p.Gln345Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS762332" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000647211.2:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000493946.1:p.Gln345Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS769289", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647211.2:c.1033C>T" }, "RefSeq": { "hgvs": "NM_015272.5:c.1033C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493946.1:p.Gln345Ter" }, "RefSeq": { "hgvs": "NP_056087.2:p.Gln345Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000680193.1:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000506379.1:p.Gln345Ter", "hgvsWellDefined": "ENSP00000506379.1:p.Gln345_Asp1108delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779813" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000680907.1:n.1076C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780521" }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000262135.8:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000262135.4:p.Gln345Ter", "hgvsWellDefined": "ENSP00000262135.4:p.Gln345_Ala1235delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250939" }, { "coordinates": [ { "allele": "T", "end": 1084, "referenceAllele": "C", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000379925.7:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000369257.3:p.Gln345Ter", "hgvsWellDefined": "ENSP00000369257.3:p.Gln345_Ala1315delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272700" }, { "coordinates": [ { "allele": "T", "end": 1078, "referenceAllele": "C", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000562230.5:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000455295.1:p.Gln345Ter", "hgvsWellDefined": "ENSP00000455295.1:p.Gln345_Glu354del" }, "referenceSequence": "http://reg.genome.network/refseq/RS376654" }, { "coordinates": [ { "allele": "T", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000563746.5:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000457889.1:p.Gln345Ter", "hgvsWellDefined": "ENSP00000457889.1:p.Gln345_Ala1281delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS377628" }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000564374.5:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000456534.1:p.Gln345Ter", "hgvsWellDefined": "ENSP00000456534.1:p.Gln345_Tyr1253delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspGlyMetGlyGluSerValAlaGlnPheValGlnProThrIleAlaGluLeuGlnThrLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS378050" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000621565.4:c.1033C>T" ], "proteinEffect": { "hgvs": "ENSP00000480698.1:p.Gln345Ter", "hgvsWellDefined": "ENSP00000480698.1:p.Gln345_Ala1269delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405328" }, { "@id": "http://reg.genome.network/allele/PA114733", "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.1:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Gln345Ter", "hgvsWellDefined": "NP_001121369.1:p.Gln345_Ala1235delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011707" }, { "@id": "http://reg.genome.network/allele/PA114733", "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.2:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Gln345Ter", "hgvsWellDefined": "NP_001121369.1:p.Gln345_Ala1235delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011708" }, { "@id": "http://reg.genome.network/allele/PA2826934060", "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.1:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Gln345Ter", "hgvsWellDefined": "NP_001295263.1:p.Gln345_Ala1269delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026290" }, { "@id": "http://reg.genome.network/allele/PA114734", "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.2:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Gln345Ter", "hgvsWellDefined": "NP_056087.2:p.Gln345_Ala1315delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033885" }, { "@id": "http://reg.genome.network/allele/PA114734", "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.3:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Gln345Ter", "hgvsWellDefined": "NP_056087.2:p.Gln345_Ala1315delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033886" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255867.1:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_005255924.1:p.Gln345Ter", "hgvsWellDefined": "XP_005255924.1:p.Gln345_Ala1281delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061084" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.1:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Gln345Ter", "hgvsWellDefined": "XP_005255925.1:p.Gln345_Ala1273delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061085" }, { "coordinates": [ { "allele": "T", "end": 1311, "referenceAllele": "C", "start": 1310 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522968.1:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_011521270.1:p.Gln345Ter", "hgvsWellDefined": "XP_011521270.1:p.Gln345_Ala1315delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090109" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522969.1:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_011521271.1:p.Gln345Ter", "hgvsWellDefined": "XP_011521271.1:p.Gln345_Arg1209delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgArgGlnLeuPheThrCysIleIleSerPheAspLeuHisLysSerProValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090110" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.1:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Gln345Ter", "hgvsWellDefined": "XP_011521272.1:p.Gln345_Trp1128delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnAlaIleTyrIleValThrTyrSerSerLeuAspLeuSerGlyValSerSerArgSerAspSerSerTyrAlaPheTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090111" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.1:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Gln345Ter", "hgvsWellDefined": "XP_011521273.1:p.Gln345_Asp1113delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090112" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522972.1:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_011521274.1:p.Gln345Ter", "hgvsWellDefined": "XP_011521274.1:p.Gln345_Asp1112delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090113" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.1:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Gln345Ter", "hgvsWellDefined": "XP_011521275.1:p.Gln345_Ser1108delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuLeuAlaGluThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090114" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.1:n.1065C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128947" }, { "@id": "http://reg.genome.network/allele/PA114733", "coordinates": [ { "allele": "T", "end": 1176, "referenceAllele": "C", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.3:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Gln345Ter", "hgvsWellDefined": "NP_001121369.1:p.Gln345_Ala1235delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511415" }, { "@id": "http://reg.genome.network/allele/PA2826934060", "coordinates": [ { "allele": "T", "end": 1176, "referenceAllele": "C", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.2:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Gln345Ter", "hgvsWellDefined": "NP_001295263.1:p.Gln345_Ala1269delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512380" }, { "@id": "http://reg.genome.network/allele/PA2827321136", "coordinates": [ { "allele": "T", "end": 1176, "referenceAllele": "C", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.1:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Gln345Ter", "hgvsWellDefined": "NP_001317467.1:p.Gln345_Ala1281delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516906" }, { "@id": "http://reg.genome.network/allele/PA114734", "coordinates": [ { "allele": "T", "end": 1176, "referenceAllele": "C", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.4:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Gln345Ter", "hgvsWellDefined": "NP_056087.2:p.Gln345_Ala1315delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525674" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.2:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Gln345Ter", "hgvsWellDefined": "XP_005255925.1:p.Gln345_Ala1273delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534352" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.2:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Gln345Ter", "hgvsWellDefined": "XP_011521272.1:p.Gln345_Trp1128delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnAlaIleTyrIleValThrTyrSerSerLeuAspLeuSerGlyValSerSerArgSerAspSerSerTyrAlaPheTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546829" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.3:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Gln345Ter", "hgvsWellDefined": "XP_011521273.1:p.Gln345_Asp1113delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546830" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.3:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Gln345Ter", "hgvsWellDefined": "XP_011521275.1:p.Gln345_Ser1108delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuLeuAlaGluThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546831" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023094.2:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_016878583.1:p.Gln345Ter", "hgvsWellDefined": "XP_016878583.1:p.Gln345_Ala1319delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573910" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023095.2:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_016878584.1:p.Gln345Ter", "hgvsWellDefined": "XP_016878584.1:p.Gln345_Ala1239delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573911" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023096.2:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_016878585.1:p.Gln345Ter", "hgvsWellDefined": "XP_016878585.1:p.Gln345_Asp1195delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgArgSerSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573912" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023097.2:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_016878586.1:p.Gln345Ter", "hgvsWellDefined": "XP_016878586.1:p.Gln345_Phe787delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerIleThrSerAlaMetGluAspLeuThrValSerThrIleLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573913" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023100.2:c.1033C>T" ], "proteinEffect": { "hgvs": "XP_016878589.1:p.Gln345Ter", "hgvsWellDefined": "XP_016878589.1:p.Gln345_Ile578delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgGlyAlaLeuIleAsnGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluGluAlaValSerLeuGlySerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573916" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.3:n.1076C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610401" }, { "@id": "http://reg.genome.network/allele/PA114734", "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.5:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Gln345Ter", "hgvsWellDefined": "NP_056087.2:p.Gln345_Ala1315delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647211.2:c.1033C>T" }, "RefSeq": { "hgvs": "NM_015272.5:c.1033C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493946.1:p.Gln345Ter" }, "RefSeq": { "hgvs": "NP_056087.2:p.Gln345Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA114733", "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.4:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Gln345Ter", "hgvsWellDefined": "NP_001121369.1:p.Gln345_Ala1235delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676952" }, { "@id": "http://reg.genome.network/allele/PA2827321136", "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.2:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Gln345Ter", "hgvsWellDefined": "NP_001317467.1:p.Gln345_Ala1281delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686996" }, { "@id": "http://reg.genome.network/allele/PA2826934060", "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.3:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Gln345Ter", "hgvsWellDefined": "NP_001295263.1:p.Gln345_Ala1269delinsAspArgIleAsnAspLeuGluLysGluArgGluLeuLeuLysGluAsnTyrAspLysLeuTyrAspSerAlaPheSerAlaAlaHisGluGluGlnTrpLysLeuLysGluGlnGlnLeuLysValGlnIleAlaGlnLeuGluThrAlaLeuLysSerAspLeuThrAspLysThrGluIleLeuAspArgLeuLysThrGluArgAspGlnAsnGluLysLeuValGlnGluAsnArgGluLeuGlnLeuGlnTyrLeuGluGlnLysGlnGlnLeuAspGluLeuLysLysArgIleLysLeuTyrAsnGlnGluAsnAspIleAsnAlaAspGluLeuSerGluAlaLeuLeuLeuIleLysAlaGlnLysGluGlnLysAsnGlyAspLeuSerPheLeuValLysValAspSerGluIleAsnLysAspLeuGluArgSerMetArgGluLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717273" } ], "type": "nucleotide" }