{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA251696", "communityStandardTitle": [ "NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16115[alleleid]", "alleleId": 16115, "preferredName": "NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1076", "RCV": [ "RCV000001131", "RCV000762962", "RCV000824619", "RCV001271277", "RCV001813927", "RCV001781157" ], "variationId": 1076 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-53686549-G-A", "id": "16-53686549-G-A", "variant": "16:53686549 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.53686549G>A?assembly=hg19", "id": "chr16:g.53686549G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.53652637G>A?assembly=hg38", "id": "chr16:g.53652637G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918204", "rs": 121918204 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53686549-G-A?dataset=gnomad_r2_1", "id": "16-53686549-G-A", "variant": "16:53686549 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53652637-G-A?dataset=gnomad_r3", "id": "16-53652637-G-A", "variant": "16:53652637 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53652637-G-A?dataset=gnomad_r4", "id": "16-53652637-G-A", "variant": "16:53652637 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 53652637, "referenceAllele": "G", "start": 53652636 } ], "hgvs": [ "NC_000016.10:g.53652637G>A", "CM000678.2:g.53652637G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 53686549, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS742281" }, { "coordinates": [ { "allele": "T", "end": 2474, "referenceAllele": "C", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000565343.2:n.2474C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS760464" }, { "coordinates": [ { "allele": "T", "end": 2096, "referenceAllele": "C", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000621565.5:c.2050C>T" ], "proteinEffect": { "hgvs": "ENSP00000480698.1:p.Gln684Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS762332" }, { "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000647211.2:c.2050C>T" ], "proteinEffect": { "hgvs": "ENSP00000493946.1:p.Gln684Ter", "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.2050C>T" }, "RefSeq": { "hgvs": "NM_015272.5:c.2050C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493946.1:p.Gln684Ter" }, "RefSeq": { "hgvs": "NP_056087.2:p.Gln684Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2096, "referenceAllele": "C", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000680193.1:c.2050C>T" ], "proteinEffect": { "hgvs": "ENSP00000506379.1:p.Gln684Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS779813" }, { "coordinates": [ { "allele": "T", "end": 2144, "referenceAllele": "C", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000262135.8:c.2050C>T" ], "proteinEffect": { "hgvs": "ENSP00000262135.4:p.Gln684Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS250939" }, { "coordinates": [ { "allele": "T", "end": 2101, "referenceAllele": "C", "start": 2100 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000379925.7:c.2050C>T" ], "proteinEffect": { "hgvs": "ENSP00000369257.3:p.Gln684Ter", "hgvsWellDefined": "ENSP00000369257.3:p.Gln684_Ala1315delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272700" }, { "coordinates": [ { "allele": "T", "end": 2102, "referenceAllele": "C", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000563746.5:c.2050C>T" ], "proteinEffect": { "hgvs": "ENSP00000457889.1:p.Gln684Ter", "hgvsWellDefined": "ENSP00000457889.1:p.Gln684_Ala1281delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS377628" }, { "coordinates": [ { "allele": "T", "end": 2144, "referenceAllele": "C", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000564374.5:c.2050C>T" ], "proteinEffect": { "hgvs": "ENSP00000456534.1:p.Gln684Ter", "hgvsWellDefined": "ENSP00000456534.1:p.Gln684_Tyr1253delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspGlyMetGlyGluSerValAlaGlnPheValGlnProThrIleAlaGluLeuGlnThrLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS378050" }, { "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000621565.4:c.2050C>T" ], "proteinEffect": { "hgvs": "ENSP00000480698.1:p.Gln684Ter", "hgvsWellDefined": "ENSP00000480698.1:p.Gln684_Ala1269delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405328" }, { "@id": "http://reg.genome.network/allele/PA251697", "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.1:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Gln684Ter", "hgvsWellDefined": "NP_001121369.1:p.Gln684_Ala1235delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011707" }, { "@id": "http://reg.genome.network/allele/PA251697", "coordinates": [ { "allele": "T", "end": 2189, "referenceAllele": "C", "start": 2188 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.2:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Gln684Ter", "hgvsWellDefined": "NP_001121369.1:p.Gln684_Ala1235delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011708" }, { "@id": "http://reg.genome.network/allele/PA2826934335", "coordinates": [ { "allele": "T", "end": 2189, "referenceAllele": "C", "start": 2188 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.1:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Gln684Ter", "hgvsWellDefined": "NP_001295263.1:p.Gln684_Ala1269delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026290" }, { "@id": "http://reg.genome.network/allele/PA251698", "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.2:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Gln684Ter", "hgvsWellDefined": "NP_056087.2:p.Gln684_Ala1315delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033885" }, { "@id": "http://reg.genome.network/allele/PA251698", "coordinates": [ { "allele": "T", "end": 2189, "referenceAllele": "C", "start": 2188 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.3:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Gln684Ter", "hgvsWellDefined": "NP_056087.2:p.Gln684_Ala1315delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033886" }, { "coordinates": [ { "allele": "T", "end": 2082, "referenceAllele": "C", "start": 2081 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255867.1:c.2050C>T" ], "proteinEffect": { "hgvs": "XP_005255924.1:p.Gln684Ter", "hgvsWellDefined": "XP_005255924.1:p.Gln684_Ala1281delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061084" }, { "coordinates": [ { "allele": "T", "end": 2094, "referenceAllele": "C", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.1:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Gln688Ter", "hgvsWellDefined": "XP_005255925.1:p.Gln688_Ala1273delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061085" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255871.2:c.295C>T" ], "proteinEffect": { "hgvs": "XP_005255928.1:p.Gln99Ter", "hgvsWellDefined": "XP_005255928.1:p.Gln99_Ala684delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061086" }, { "coordinates": [ { "allele": "T", "end": 2328, "referenceAllele": "C", "start": 2327 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522968.1:c.2050C>T" ], "proteinEffect": { "hgvs": "XP_011521270.1:p.Gln684Ter", "hgvsWellDefined": "XP_011521270.1:p.Gln684_Ala1315delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090109" }, { "coordinates": [ { "allele": "T", "end": 2094, "referenceAllele": "C", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522969.1:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_011521271.1:p.Gln688Ter", "hgvsWellDefined": "XP_011521271.1:p.Gln688_Arg1209delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgArgGlnLeuPheThrCysIleIleSerPheAspLeuHisLysSerProValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090110" }, { "coordinates": [ { "allele": "T", "end": 2094, "referenceAllele": "C", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.1:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Gln688Ter", "hgvsWellDefined": "XP_011521272.1:p.Gln688_Trp1128delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnAlaIleTyrIleValThrTyrSerSerLeuAspLeuSerGlyValSerSerArgSerAspSerSerTyrAlaPheTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090111" }, { "coordinates": [ { "allele": "T", "end": 2094, "referenceAllele": "C", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.1:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Gln688Ter", "hgvsWellDefined": "XP_011521273.1:p.Gln688_Asp1113delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090112" }, { "coordinates": [ { "allele": "T", "end": 2094, "referenceAllele": "C", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522972.1:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_011521274.1:p.Gln688Ter", "hgvsWellDefined": "XP_011521274.1:p.Gln688_Asp1112delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090113" }, { "coordinates": [ { "allele": "T", "end": 2094, "referenceAllele": "C", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.1:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Gln688Ter", "hgvsWellDefined": "XP_011521275.1:p.Gln688_Ser1108delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuLeuAlaGluThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090114" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522974.1:c.295C>T" ], "proteinEffect": { "hgvs": "XP_011521276.1:p.Gln99Ter", "hgvsWellDefined": "XP_011521276.1:p.Gln99_Ala684delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090115" }, { "coordinates": [ { "allele": "T", "end": 2094, "referenceAllele": "C", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.1:n.2094C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128947" }, { "@id": "http://reg.genome.network/allele/PA251697", "coordinates": [ { "allele": "T", "end": 2193, "referenceAllele": "C", "start": 2192 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.3:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Gln684Ter", "hgvsWellDefined": "NP_001121369.1:p.Gln684_Ala1235delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511415" }, { "@id": "http://reg.genome.network/allele/PA2826934335", "coordinates": [ { "allele": "T", "end": 2193, "referenceAllele": "C", "start": 2192 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.2:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Gln684Ter", "hgvsWellDefined": "NP_001295263.1:p.Gln684_Ala1269delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512380" }, { "@id": "http://reg.genome.network/allele/PA2827321544", "coordinates": [ { "allele": "T", "end": 2193, "referenceAllele": "C", "start": 2192 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.1:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Gln684Ter", "hgvsWellDefined": "NP_001317467.1:p.Gln684_Ala1281delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516906" }, { "@id": "http://reg.genome.network/allele/PA251698", "coordinates": [ { "allele": "T", "end": 2193, "referenceAllele": "C", "start": 2192 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.4:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Gln684Ter", "hgvsWellDefined": "NP_056087.2:p.Gln684_Ala1315delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525674" }, { "coordinates": [ { "allele": "T", "end": 2105, "referenceAllele": "C", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.2:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Gln688Ter", "hgvsWellDefined": "XP_005255925.1:p.Gln688_Ala1273delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534352" }, { "coordinates": [ { "allele": "T", "end": 2105, "referenceAllele": "C", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.2:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Gln688Ter", "hgvsWellDefined": "XP_011521272.1:p.Gln688_Trp1128delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnAlaIleTyrIleValThrTyrSerSerLeuAspLeuSerGlyValSerSerArgSerAspSerSerTyrAlaPheTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546829" }, { "coordinates": [ { "allele": "T", "end": 2105, "referenceAllele": "C", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.3:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Gln688Ter", "hgvsWellDefined": "XP_011521273.1:p.Gln688_Asp1113delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546830" }, { "coordinates": [ { "allele": "T", "end": 2105, "referenceAllele": "C", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.3:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Gln688Ter", "hgvsWellDefined": "XP_011521275.1:p.Gln688_Ser1108delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuLeuAlaGluThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546831" }, { "coordinates": [ { "allele": "T", "end": 2105, "referenceAllele": "C", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023094.2:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_016878583.1:p.Gln688Ter", "hgvsWellDefined": "XP_016878583.1:p.Gln688_Ala1319delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573910" }, { "coordinates": [ { "allele": "T", "end": 2105, "referenceAllele": "C", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023095.2:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_016878584.1:p.Gln688Ter", "hgvsWellDefined": "XP_016878584.1:p.Gln688_Ala1239delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573911" }, { "coordinates": [ { "allele": "T", "end": 2105, "referenceAllele": "C", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023096.2:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_016878585.1:p.Gln688Ter", "hgvsWellDefined": "XP_016878585.1:p.Gln688_Asp1195delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgArgSerSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573912" }, { "coordinates": [ { "allele": "T", "end": 2105, "referenceAllele": "C", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023097.2:c.2062C>T" ], "proteinEffect": { "hgvs": "XP_016878586.1:p.Gln688Ter", "hgvsWellDefined": "XP_016878586.1:p.Gln688_Phe787delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerIleThrSerAlaMetGluAspLeuThrValSerThrIleLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573913" }, { "coordinates": [ { "allele": "T", "end": 1057, "referenceAllele": "C", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023098.1:c.295C>T" ], "proteinEffect": { "hgvs": "XP_016878587.1:p.Gln99Ter", "hgvsWellDefined": "XP_016878587.1:p.Gln99_Ala730delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573914" }, { "coordinates": [ { "allele": "T", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023099.1:c.295C>T" ], "proteinEffect": { "hgvs": "XP_016878588.1:p.Gln99Ter", "hgvsWellDefined": "XP_016878588.1:p.Gln99_Ala730delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573915" }, { "coordinates": [ { "allele": "T", "end": 2105, "referenceAllele": "C", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.3:n.2105C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610401" }, { "@id": "http://reg.genome.network/allele/PA251698", "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.5:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Gln684Ter", "hgvsWellDefined": "NP_056087.2:p.Gln684_Ala1315delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647211.2:c.2050C>T" }, "RefSeq": { "hgvs": "NM_015272.5:c.2050C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493946.1:p.Gln684Ter" }, "RefSeq": { "hgvs": "NP_056087.2:p.Gln684Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA251697", "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.4:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Gln684Ter", "hgvsWellDefined": "NP_001121369.1:p.Gln684_Ala1235delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676952" }, { "@id": "http://reg.genome.network/allele/PA2827321544", "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.2:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Gln684Ter", "hgvsWellDefined": "NP_001317467.1:p.Gln684_Ala1281delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686996" }, { "@id": "http://reg.genome.network/allele/PA2826934335", "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.3:c.2050C>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Gln684Ter", "hgvsWellDefined": "NP_001295263.1:p.Gln684_Ala1269delinsAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717273" } ], "type": "nucleotide" }