{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA236040", "communityStandardTitle": [ "NM_133259.4(LRPPRC):c.1792C>T (p.Gln598Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188913[alleleid]", "alleleId": 188913, "preferredName": "NM_133259.4(LRPPRC):c.1792C>T (p.Gln598Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191109", "RCV": [ "RCV000171290" ], "variationId": 191109 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.44175601G>A?assembly=hg19", "id": "chr2:g.44175601G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.43948462G>A?assembly=hg38", "id": "chr2:g.43948462G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786205523", "rs": 786205523 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 43948462, 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"ENSP00000386562.2:p.Gln598_Ser841delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluAsnSerIleAsnArgGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824613" }, { "coordinates": [ { "allele": "T", "end": 1839, "referenceAllele": "C", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN015714", 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{ "coordinates": [ { "allele": "T", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000467058.2:n.521C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825174" }, { "coordinates": [ { "allele": "T", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000681959.1:n.1406C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826959" }, { "coordinates": [ { "allele": "T", "end": 1812, "referenceAllele": "C", "start": 1811 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000681961.1:n.1812C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826961" }, { "coordinates": [ { "allele": "T", "end": 1730, "referenceAllele": "C", "start": 1729 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000682104.1:c.1666C>T" ], "proteinEffect": { "hgvs": "ENSP00000507716.1:p.Gln556Ter", "hgvsWellDefined": "ENSP00000507716.1:p.Gln556_Ser795delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827101" }, { "coordinates": [ { "allele": "T", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000682303.1:c.*1664C>T" ], "proteinEffect": { "hgvs": "ENSP00000508325.1:n.*1664C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827297" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000682308.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000507056.1:p.Gln598Ter", "hgvsWellDefined": "ENSP00000507056.1:p.Gln598_Ser1369delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827302" }, { "coordinates": [ { "allele": "T", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000682480.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000508344.1:p.Gln598Ter", "hgvsWellDefined": "ENSP00000508344.1:p.Gln598_Ser1400delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluAsnAsnPheValLeuLysLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827470" }, { "coordinates": [ { "allele": "T", "end": 1816, "referenceAllele": "C", "start": 1815 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000682546.1:c.1789C>T" ], "proteinEffect": { "hgvs": "ENSP00000508188.1:p.Gln597Ter", "hgvsWellDefined": "ENSP00000508188.1:p.Gln597_Ser1393delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827536" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000682585.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000506885.1:p.Gln598Ter", "hgvsWellDefined": "ENSP00000506885.1:p.Gln598_Lys1356delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysArgGlyCysValPheIleArgValIleLysLysTyrLysGluSerGluLysHisLeuSerValHisLeuTrpAspCysAlaLysSerLeuLeuProCysProGlyAspGlyThrGlyAsnAlaArgGlnTyrValCysLeuGluHisProThrGlnAspSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827575" }, { "coordinates": [ { "allele": "T", "end": 2374, "referenceAllele": "C", "start": 2373 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000682595.1:n.2374C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827585" }, { "coordinates": [ { "allele": "T", "end": 210, "referenceAllele": "C", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000682607.1:c.210C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827597" }, { "coordinates": [ { "allele": "T", "end": 1798, "referenceAllele": "C", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000682779.1:c.1783C>T" ], "proteinEffect": { "hgvs": "ENSP00000507947.1:p.Gln595Ter", "hgvsWellDefined": "ENSP00000507947.1:p.Gln595_Ser1391delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827768" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000682885.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000508036.1:p.Gln598Ter", "hgvsWellDefined": "ENSP00000508036.1:p.Gln598_Ser1379delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827873" }, { "coordinates": [ { "allele": "T", "end": 1866, "referenceAllele": "C", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000682933.1:n.1866C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827921" }, { "coordinates": [ { "allele": "T", "end": 2374, "referenceAllele": "C", "start": 2373 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683072.1:n.2374C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828057" }, { "coordinates": [ { "allele": "T", "end": 1810, "referenceAllele": "C", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683082.1:n.1810C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828067" }, { "coordinates": [ { "allele": "T", "end": 1821, "referenceAllele": "C", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683125.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000507939.1:p.Gln598Ter", "hgvsWellDefined": "ENSP00000507939.1:p.Gln598_Ser1430delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrArgSerProArgLeuGluTyrSerGlyAlaIleArgAlaHisCysSerLeuAsnLeuLeuGlySerArgAsnProProThrSerAlaSerGlnValValGlySerThrGluIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828110" }, { "coordinates": [ { "allele": "T", "end": 1847, "referenceAllele": "C", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683213.1:c.1795C>T" ], "proteinEffect": { "hgvs": "ENSP00000507751.1:p.Gln599Ter", "hgvsWellDefined": "ENSP00000507751.1:p.Gln599_Ser1395delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828195" }, { "coordinates": [ { "allele": "T", "end": 1849, "referenceAllele": "C", "start": 1848 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683220.1:c.1822C>T" ], "proteinEffect": { "hgvs": "ENSP00000507151.1:p.Gln608Ter", "hgvsWellDefined": "ENSP00000507151.1:p.Gln608_Ser1404delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828202" }, { "coordinates": [ { "allele": "T", "end": 2595, "referenceAllele": "C", "start": 2594 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683329.1:n.2595C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828310" }, { "coordinates": [ { "allele": "T", "end": 1835, "referenceAllele": "C", "start": 1834 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683346.1:c.*1667C>T" ], "proteinEffect": { "hgvs": "ENSP00000507458.1:n.*1667C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828326" }, { "coordinates": [ { "allele": "T", "end": 2379, "referenceAllele": "C", "start": 2378 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683459.1:n.2379C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828435" }, { "coordinates": [ { "allele": "T", "end": 1796, "referenceAllele": "C", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683590.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000506820.1:p.Gln598Ter", "hgvsWellDefined": "ENSP00000506820.1:p.Gln598_Ser1285delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrArgAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828562" }, { "coordinates": [ { "allele": "T", "end": 1799, "referenceAllele": "C", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683623.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000507702.1:p.Gln598Ter", "hgvsWellDefined": "ENSP00000507702.1:p.Gln598_Ser1363delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828595" }, { "coordinates": [ { "allele": "T", "end": 2312, "referenceAllele": "C", "start": 2311 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683645.1:n.2312C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828616" }, { "coordinates": [ { "allele": "T", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683694.1:n.543C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828665" }, { "coordinates": [ { "allele": "T", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683796.1:c.*1664C>T" ], "proteinEffect": { "hgvs": "ENSP00000508221.1:n.*1664C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828767" }, { "coordinates": [ { "allele": "T", "end": 4717, "referenceAllele": "C", "start": 4716 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683802.1:n.4717C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828772" }, { "coordinates": [ { "allele": "T", "end": 1812, "referenceAllele": "C", "start": 1811 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683833.1:c.1783C>T" ], "proteinEffect": { "hgvs": "ENSP00000506852.1:p.Gln595Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS828801" }, { "coordinates": [ { "allele": "T", "end": 1678, "referenceAllele": "C", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683934.1:c.1678C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828900" }, { "coordinates": [ { "allele": "T", "end": 1821, "referenceAllele": "C", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683989.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000507510.1:p.Gln598Ter", "hgvsWellDefined": "ENSP00000507510.1:p.Gln598_Val913delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828952" }, { "coordinates": [ { "allele": "T", "end": 1833, "referenceAllele": "C", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000683994.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000507181.1:p.Gln598Ter", "hgvsWellDefined": "ENSP00000507181.1:p.Gln598_Phe1277delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828957" }, { "coordinates": [ { "allele": "T", "end": 1807, "referenceAllele": "C", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000684290.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000507243.1:p.Gln598Ter", "hgvsWellDefined": "ENSP00000507243.1:p.Gln598_Tyr739delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluLeuCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829246" }, { "coordinates": [ { "allele": "T", "end": 1921, "referenceAllele": "C", "start": 1920 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000684306.1:c.*1705C>T" ], "proteinEffect": { "hgvs": "ENSP00000508384.1:n.*1705C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829262" }, { "coordinates": [ { "allele": "T", "end": 1812, "referenceAllele": "C", "start": 1811 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000684341.1:n.1812C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829296" }, { "coordinates": [ { "allele": "T", "end": 1635, "referenceAllele": "C", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000684383.1:c.*1430C>T" ], "proteinEffect": { "hgvs": "ENSP00000506863.1:n.*1430C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829338" }, { "coordinates": [ { "allele": "T", "end": 4261, "referenceAllele": "C", "start": 4260 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000684482.1:c.4261C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829436" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000684619.1:c.*1664C>T" ], "proteinEffect": { "hgvs": "ENSP00000508088.1:n.*1664C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829571" }, { "coordinates": [ { "allele": "T", "end": 2823, "referenceAllele": "C", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000684743.1:n.2823C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829694" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000260665.12:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000260665.7:p.Gln598Ter", "hgvsWellDefined": "ENSP00000260665.7:p.Gln598_Ser1394delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742058", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000260665.12:c.1792C>T" }, "RefSeq": { "hgvs": "NM_133259.4:c.1792C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000260665.7:p.Gln598Ter" }, "RefSeq": { "hgvs": "NP_573566.2:p.Gln598Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1850, "referenceAllele": "C", "start": 1849 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000260665.11:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000260665.7:p.Gln598Ter", "hgvsWellDefined": "ENSP00000260665.7:p.Gln598_Ser1394delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250623" }, { "coordinates": [ { "allele": "T", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "ENST00000467058.1:n.521C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310266" }, { "@id": "http://reg.genome.network/allele/PA236041", "coordinates": [ { "allele": "T", "end": 1850, "referenceAllele": "C", "start": 1849 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "NM_133259.3:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_573566.2:p.Gln598Ter", "hgvsWellDefined": "NP_573566.2:p.Gln598_Ser1394delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040466" }, { "coordinates": [ { "allele": "T", "end": 1859, "referenceAllele": "C", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "XM_006711915.2:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_006711978.1:p.Gln572Ter", "hgvsWellDefined": "XP_006711978.1:p.Gln572_Ser1368delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069358" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "XM_006711916.2:c.1792C>T" ], "proteinEffect": { "hgvs": "XP_006711979.1:p.Gln598Ter", "hgvsWellDefined": "XP_006711979.1:p.Gln598_Ile1052delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysArgGlyIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069359" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "XM_011532473.1:c.1792C>T" ], "proteinEffect": { "hgvs": "XP_011530775.1:p.Gln598Ter", "hgvsWellDefined": "XP_011530775.1:p.Gln598_Ser1369delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099499" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "XM_011532474.1:c.1792C>T" ], "proteinEffect": { "hgvs": "XP_011530776.1:p.Gln598Ter", "hgvsWellDefined": "XP_011530776.1:p.Gln598_Lys1330delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099500" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "XM_006711916.3:c.1792C>T" ], "proteinEffect": { "hgvs": "XP_006711979.1:p.Gln598Ter", "hgvsWellDefined": "XP_006711979.1:p.Gln598_Ile1052delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysArgGlyIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538116" }, { "coordinates": [ { "allele": "T", "end": 1832, "referenceAllele": "C", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "XM_017003117.1:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_016858606.1:p.Gln572Ter", "hgvsWellDefined": "XP_016858606.1:p.Gln572_Ser1343delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558914" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "XR_002958896.1:n.1834C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605020" }, { "@id": "http://reg.genome.network/allele/PA236041", "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN015714", "geneNCBI_id": 10128, "geneSymbol": "LRPPRC", "hgvs": [ "NM_133259.4:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_573566.2:p.Gln598Ter", "hgvsWellDefined": "NP_573566.2:p.Gln598_Ser1394delinsAlaLysGluGluHisLeuArgGlnTyrPheHisGlnLeuGluLysMetAsnValLysIleProGluAsnIleTyrArgGlyIleArgAsnLeuLeuGluSerTyrHisValProGluLeuIleLysAspAlaHisLeuLeuValGluSerLysAsnLeuAspPheGlnLysThrValGlnLeuThrSerSerGluLeuGluSerThrLeuGluThrLeuLysAlaGluAsnGlnProIleArgAspValLeuLysGlnLeuIleLeuValLeuCysSerGluGluAsnMetGlnLysAlaLeuGluLeuLysAlaLysTyrGluSerAspMetValThrGlyGlyTyrAlaAlaLeuIleAsnLeuCysCysArgHisAspLysValGluAspAlaLeuAsnLeuLysGluGluPheAspArgLeuAspSerSerAlaValLeuAspThrGlyLysTyrValGlyLeuValArgValLeuAlaLysHisGlyLysLeuGlnAspAlaIleAsnIleLeuLysGluMetLysGluLysAspValLeuIleLysAspThrThrAlaLeuSerPhePheHisMetLeuAsnGlyAlaAlaLeuArgGlyGluIleGluThrValLysGlnLeuHisGluAlaIleValThrLeuGlyLeuAlaGluProSerThrAsnIleSerPheProLeuValThrValHisLeuGluLysGlyAspLeuSerThrAlaLeuGluValAlaIleAspCysTyrGluLysTyrLysValLeuProArgIleHisAspValLeuCysLysLeuValGluLysGlyGluThrAspLeuIleGlnLysAlaMetAspPheValSerGlnGluGlnGlyGluMetValMetLeuTyrAspLeuPhePheAlaPheLeuGlnThrGlyAsnTyrLysGluAlaLysLysIleIleGluThrProGlyIleArgAlaArgSerAlaArgLeuGlnTrpPheCysAspArgCysValAlaAsnAsnGlnValGluThrLeuGluLysLeuValGluLeuThrGlnLysLeuPheGluCysAspArgAspGlnMetTyrTyrAsnLeuLeuLysLeuTyrLysIleAsnGlyAspTrpGlnArgAlaAspAlaValTrpAsnLysIleGlnGluGluAsnValIleProArgGluLysThrLeuArgLeuLeuAlaGluIleLeuArgGluGlyAsnGlnGluValProPheAspValProGluLeuTrpTyrGluAspGluLysHisSerLeuAsnSerSerSerAlaSerThrThrGluProAspPheGlnLysAspIleLeuIleAlaCysArgLeuAsnGlnLysLysGlyAlaTyrAspIlePheLeuAsnAlaLysGluGlnAsnIleValPheAsnAlaGluThrTyrSerAsnLeuIleLysLeuLeuMetSerGluAspTyrPheThrGlnAlaMetGluValLysAlaPheAlaGluThrHisIleLysGlyPheThrLeuAsnAspAlaAlaAsnSerArgLeuIleIleThrGlnValArgArgAspTyrLeuLysGluAlaValThrThrLeuLysThrValLeuAspGlnGlnGlnThrProSerArgLeuAlaValThrArgValIleGlnAlaLeuAlaMetLysGlyAspValGluAsnIleGluValValGlnLysMetLeuAsnGlyLeuGluAspSerIleGlyLeuSerLysMetValPheIleAsnAsnIleAlaLeuAlaGlnIleLysAsnAsnAsnIleAspAlaAlaIleGluAsnIleGluAsnMetLeuThrSerGluAsnLysValIleGluProGlnTyrPheGlyLeuAlaTyrLeuPheArgLysValIleGluGluGlnLeuGluProAlaValGluLysIleSerIleMetAlaGluArgLeuAlaAsnGlnPheAlaIleTyrLysProValThrAspPhePheLeuGlnLeuValAspAlaGlyLysValAspAspAlaArgAlaLeuLeuGlnArgCysGlyAlaIleAlaGluGlnThrProIleLeuLeuLeuPheLeuLeuArgAsnSerArgLysGlnGlyLysAlaSerThrValLysSerValLeuGluLeuIleProGluLeuAsnGluLysGluGluAlaTyrAsnSerLeuMetLysSerTyrValSerGluLysAspValThrSerAlaLysAlaLeuTyrGluHisLeuThrAlaLysAsnThrLysLeuAspAspLeuPheLeuLysArgTyrAlaSerLeuLeuLysTyrAlaGlyGluProValProPheIleGluProProGluSerPheGluPheTyrAlaGlnGlnLeuArgLysLeuArgGluAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671820", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000260665.12:c.1792C>T" }, "RefSeq": { "hgvs": "NM_133259.4:c.1792C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000260665.7:p.Gln598Ter" }, "RefSeq": { "hgvs": "NP_573566.2:p.Gln598Ter" } } } } ], "type": "nucleotide" }