{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8057784", "communityStandardTitle": [ "NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1679092", "active": true, "id": "COSM1679092" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264717[alleleid]", "alleleId": 264717, "preferredName": "NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/279885", "RCV": [ "RCV000365145", "RCV000797386", "RCV004535245" ], "variationId": 279885 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-53691457-C-A", "id": "16-53691457-C-A", "variant": "16:53691457 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.53691457C>A?assembly=hg19", "id": "chr16:g.53691457C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.53657545C>A?assembly=hg38", "id": "chr16:g.53657545C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/756821449", "rs": 756821449 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53691457-C-A?dataset=gnomad_r2_1", "id": "16-53691457-C-A", "variant": "16:53691457 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53657545-C-A?dataset=gnomad_r3", "id": "16-53657545-C-A", "variant": "16:53657545 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53657545-C-A?dataset=gnomad_r4", "id": "16-53657545-C-A", "variant": "16:53657545 C / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 53657545, "referenceAllele": "C", "start": 53657544 } ], "hgvs": [ "NC_000016.10:g.53657545C>A", "CM000678.2:g.53657545C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 53691457, "referenceAllele": "C", "start": 53691456 } ], "hgvs": [ "NC_000016.9:g.53691457C>A", "CM000678.1:g.53691457C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 52248958, "referenceAllele": "C", "start": 52248957 } ], "hgvs": [ "NC_000016.8:g.52248958C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 51315, "referenceAllele": "G", "start": 51314 } ], "hgvs": [ "NG_008991.2:g.51315G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001362" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1583, "referenceAllele": "G", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000262135.9:c.1489G>T" ], "proteinEffect": { "hgvs": "ENSP00000262135.4:p.Glu497Ter", "hgvsWellDefined": "ENSP00000262135.4:p.Glu497_Ala1235delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742281" }, { "coordinates": [ { "allele": "T", "end": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000565343.2:n.1913G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS760464" }, { "coordinates": [ { "allele": "T", "end": 1535, "referenceAllele": "G", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000621565.5:c.1489G>T" ], "proteinEffect": { "hgvs": "ENSP00000480698.1:p.Glu497Ter", "hgvsWellDefined": "ENSP00000480698.1:p.Glu497_Ala1269delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762332" }, { "coordinates": [ { "allele": "T", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000647211.2:c.1489G>T" ], "proteinEffect": { "hgvs": "ENSP00000493946.1:p.Glu497Ter", "hgvsWellDefined": "ENSP00000493946.1:p.Glu497_Ala1315delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769289", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647211.2:c.1489G>T" }, "RefSeq": { "hgvs": "NM_015272.5:c.1489G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493946.1:p.Glu497Ter" }, "RefSeq": { "hgvs": "NP_056087.2:p.Glu497Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1535, "referenceAllele": "G", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000680193.1:c.1489G>T" ], "proteinEffect": { "hgvs": "ENSP00000506379.1:p.Glu497Ter", "hgvsWellDefined": "ENSP00000506379.1:p.Glu497_Asp1108delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779813" }, { "coordinates": [ { "allele": "T", "end": 1583, "referenceAllele": "G", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000262135.8:c.1489G>T" ], "proteinEffect": { "hgvs": "ENSP00000262135.4:p.Glu497Ter", "hgvsWellDefined": "ENSP00000262135.4:p.Glu497_Ala1235delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250939" }, { "coordinates": [ { "allele": "T", "end": 1540, "referenceAllele": "G", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000379925.7:c.1489G>T" ], "proteinEffect": { "hgvs": "ENSP00000369257.3:p.Glu497Ter", "hgvsWellDefined": "ENSP00000369257.3:p.Glu497_Ala1315delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272700" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "G", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000563746.5:c.1489G>T" ], "proteinEffect": { "hgvs": "ENSP00000457889.1:p.Glu497Ter", "hgvsWellDefined": "ENSP00000457889.1:p.Glu497_Ala1281delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS377628" }, { "coordinates": [ { "allele": "T", "end": 1583, "referenceAllele": "G", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000564374.5:c.1489G>T" ], "proteinEffect": { "hgvs": "ENSP00000456534.1:p.Glu497Ter", "hgvsWellDefined": "ENSP00000456534.1:p.Glu497_Tyr1253delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspGlyMetGlyGluSerValAlaGlnPheValGlnProThrIleAlaGluLeuGlnThrLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS378050" }, { "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "G", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000565343.1:n.1261G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS378692" }, { "coordinates": [ { "allele": "T", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000621565.4:c.1489G>T" ], "proteinEffect": { "hgvs": "ENSP00000480698.1:p.Glu497Ter", "hgvsWellDefined": "ENSP00000480698.1:p.Glu497_Ala1269delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405328" }, { "@id": "http://reg.genome.network/allele/PA2825661773", "coordinates": [ { "allele": "T", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.1:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Glu497Ter", "hgvsWellDefined": "NP_001121369.1:p.Glu497_Ala1235delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011707" }, { "@id": "http://reg.genome.network/allele/PA2825661773", "coordinates": [ { "allele": "T", "end": 1628, "referenceAllele": "G", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.2:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Glu497Ter", "hgvsWellDefined": "NP_001121369.1:p.Glu497_Ala1235delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011708" }, { "@id": "http://reg.genome.network/allele/PA2826934174", "coordinates": [ { "allele": "T", "end": 1628, "referenceAllele": "G", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.1:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Glu497Ter", "hgvsWellDefined": "NP_001295263.1:p.Glu497_Ala1269delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026290" }, { "@id": "http://reg.genome.network/allele/PA645501519", "coordinates": [ { "allele": "T", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.2:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Glu497Ter", "hgvsWellDefined": "NP_056087.2:p.Glu497_Ala1315delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033885" }, { "@id": "http://reg.genome.network/allele/PA645501519", "coordinates": [ { "allele": "T", "end": 1628, "referenceAllele": "G", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.3:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Glu497Ter", "hgvsWellDefined": "NP_056087.2:p.Glu497_Ala1315delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033886" }, { "coordinates": [ { "allele": "T", "end": 1521, "referenceAllele": "G", "start": 1520 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255867.1:c.1489G>T" ], "proteinEffect": { "hgvs": "XP_005255924.1:p.Glu497Ter", "hgvsWellDefined": "XP_005255924.1:p.Glu497_Ala1281delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061084" }, { "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "G", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.1:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Glu501Ter", "hgvsWellDefined": "XP_005255925.1:p.Glu501_Ala1273delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061085" }, { "coordinates": [ { "allele": "T", "end": 1767, "referenceAllele": "G", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522968.1:c.1489G>T" ], "proteinEffect": { "hgvs": "XP_011521270.1:p.Glu497Ter", "hgvsWellDefined": "XP_011521270.1:p.Glu497_Ala1315delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090109" }, { "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "G", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522969.1:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_011521271.1:p.Glu501Ter", "hgvsWellDefined": "XP_011521271.1:p.Glu501_Arg1209delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgArgGlnLeuPheThrCysIleIleSerPheAspLeuHisLysSerProValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090110" }, { "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "G", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.1:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Glu501Ter", "hgvsWellDefined": "XP_011521272.1:p.Glu501_Trp1128delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnAlaIleTyrIleValThrTyrSerSerLeuAspLeuSerGlyValSerSerArgSerAspSerSerTyrAlaPheTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090111" }, { "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "G", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.1:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Glu501Ter", "hgvsWellDefined": "XP_011521273.1:p.Glu501_Asp1113delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090112" }, { "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "G", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522972.1:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_011521274.1:p.Glu501Ter", "hgvsWellDefined": "XP_011521274.1:p.Glu501_Asp1112delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090113" }, { "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "G", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.1:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Glu501Ter", "hgvsWellDefined": "XP_011521275.1:p.Glu501_Ser1108delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuLeuAlaGluThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090114" }, { "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "G", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.1:n.1533G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128947" }, { "@id": "http://reg.genome.network/allele/PA2825661773", "coordinates": [ { "allele": "T", "end": 1632, "referenceAllele": "G", "start": 1631 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.3:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Glu497Ter", "hgvsWellDefined": "NP_001121369.1:p.Glu497_Ala1235delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511415" }, { "@id": "http://reg.genome.network/allele/PA2826934174", "coordinates": [ { "allele": "T", "end": 1632, "referenceAllele": "G", "start": 1631 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.2:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Glu497Ter", "hgvsWellDefined": "NP_001295263.1:p.Glu497_Ala1269delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512380" }, { "@id": "http://reg.genome.network/allele/PA2827321306", "coordinates": [ { "allele": "T", "end": 1632, "referenceAllele": "G", "start": 1631 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.1:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Glu497Ter", "hgvsWellDefined": "NP_001317467.1:p.Glu497_Ala1281delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516906" }, { "@id": "http://reg.genome.network/allele/PA645501519", "coordinates": [ { "allele": "T", "end": 1632, "referenceAllele": "G", "start": 1631 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.4:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Glu497Ter", "hgvsWellDefined": "NP_056087.2:p.Glu497_Ala1315delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525674" }, { "coordinates": [ { "allele": "T", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.2:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Glu501Ter", "hgvsWellDefined": "XP_005255925.1:p.Glu501_Ala1273delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534352" }, { "coordinates": [ { "allele": "T", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.2:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Glu501Ter", "hgvsWellDefined": "XP_011521272.1:p.Glu501_Trp1128delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnAlaIleTyrIleValThrTyrSerSerLeuAspLeuSerGlyValSerSerArgSerAspSerSerTyrAlaPheTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546829" }, { "coordinates": [ { "allele": "T", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.3:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Glu501Ter", "hgvsWellDefined": "XP_011521273.1:p.Glu501_Asp1113delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnGlnLeuCysGluAsnCysHisIleGlnLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546830" }, { "coordinates": [ { "allele": "T", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.3:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Glu501Ter", "hgvsWellDefined": "XP_011521275.1:p.Glu501_Ser1108delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnLeuLeuAlaGluThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546831" }, { "coordinates": [ { "allele": "T", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023094.2:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_016878583.1:p.Glu501Ter", "hgvsWellDefined": "XP_016878583.1:p.Glu501_Ala1319delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573910" }, { "coordinates": [ { "allele": "T", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023095.2:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_016878584.1:p.Glu501Ter", "hgvsWellDefined": "XP_016878584.1:p.Glu501_Ala1239delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573911" }, { "coordinates": [ { "allele": "T", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023096.2:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_016878585.1:p.Glu501Ter", "hgvsWellDefined": "XP_016878585.1:p.Glu501_Asp1195delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgArgSerSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573912" }, { "coordinates": [ { "allele": "T", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023097.2:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_016878586.1:p.Glu501Ter", "hgvsWellDefined": "XP_016878586.1:p.Glu501_Phe787delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerIleThrSerAlaMetGluAspLeuThrValSerThrIleLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573913" }, { "coordinates": [ { "allele": "T", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023100.2:c.1501G>T" ], "proteinEffect": { "hgvs": "XP_016878589.1:p.Glu501Ter", "hgvsWellDefined": "XP_016878589.1:p.Glu501_Ile578delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluGluAlaValSerLeuGlySerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573916" }, { "coordinates": [ { "allele": "T", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.3:n.1544G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610401" }, { "@id": "http://reg.genome.network/allele/PA645501519", "coordinates": [ { "allele": "T", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.5:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Glu497Ter", "hgvsWellDefined": "NP_056087.2:p.Glu497_Ala1315delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647211.2:c.1489G>T" }, "RefSeq": { "hgvs": "NM_015272.5:c.1489G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493946.1:p.Glu497Ter" }, "RefSeq": { "hgvs": "NP_056087.2:p.Glu497Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825661773", "coordinates": [ { "allele": "T", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.4:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Glu497Ter", "hgvsWellDefined": "NP_001121369.1:p.Glu497_Ala1235delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676952" }, { "@id": "http://reg.genome.network/allele/PA2827321306", "coordinates": [ { "allele": "T", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.2:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Glu497Ter", "hgvsWellDefined": "NP_001317467.1:p.Glu497_Ala1281delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686996" }, { "@id": "http://reg.genome.network/allele/PA2826934174", "coordinates": [ { "allele": "T", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.3:c.1489G>T" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Glu497Ter", "hgvsWellDefined": "NP_001295263.1:p.Glu497_Ala1269delinsLeuGlnAlaThrHisAlaGluThrValGlnGluLeuGluLysThrArgAsnMetLeuIleMetGlnHisLysIleAsnLysAspTyrGlnMetGluValGluAlaValThrArgLysMetGluAsnLeuGlnGlnAspTyrGluLeuLysValGluGlnTyrValHisLeuLeuAspIleArgAlaAlaArgIleHisLysLeuGluAlaGlnLeuLysAspIleAlaTyrGlyThrLysGlnTyrLysPheLysProGluIleMetProAspAspSerValAspGluPheAspGluThrIleHisLeuGluArgGlyGluAsnLeuPheGluIleHisIleAsnLysValThrPheSerSerGluValLeuGlnAlaSerGlyAspLysGluProValThrPheCysThrTyrAlaPheTyrAspPheGluLeuGlnThrThrProValValArgGlyLeuHisProGluTyrAsnPheThrSerGlnTyrLeuValHisValAsnAspLeuPheLeuGlnTyrIleGlnLysAsnThrIleThrLeuGluValHisGlnAlaTyrSerThrGluTyrGluThrIleAlaAlaCysGlnLeuLysPheHisGluIleLeuGluLysSerGlyArgIlePheCysThrAlaSerLeuIleGlyThrLysGlyAspIleProAsnPheGlyThrValGluTyrTrpPheArgLeuArgValProMetAspGlnAlaIleArgLeuTyrArgGluArgAlaLysAlaLeuGlyTyrIleThrSerAsnPheLysGlyProGluHisMetGlnSerLeuSerGlnGlnAlaProLysThrAlaGlnLeuSerSerThrAspSerThrAspGlyAsnLeuAsnGluLeuHisIleThrIleArgCysCysAsnHisLeuGlnSerArgAlaSerHisLeuGlnProHisProTyrValValTyrLysPhePheAspPheAlaAspHisAspThrAlaIleIleProSerSerAsnAspProGlnPheAspAspHisMetTyrPheProValProMetAsnMetAspLeuAspArgTyrLeuLysSerGluSerLeuSerPheTyrValPheAspAspSerAspThrGlnGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717273" } ], "type": "nucleotide" }