{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA409676119", "communityStandardTitle": [ "NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3097295[alleleid]", "alleleId": 3097295, "preferredName": "NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2942709", "RCV": [ "RCV003807875" ], "variationId": 2942709 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62317222C>T?assembly=hg19", "id": "chr20:g.62317222C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63685869C>T?assembly=hg38", "id": "chr20:g.63685869C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2090581105", "rs": 2090581105 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 63685869, "referenceAllele": "C", "start": 63685868 } ], "hgvs": [ "NC_000020.11:g.63685869C>T", "CM000682.2:g.63685869C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 62317222, "referenceAllele": "C", "start": 62317221 } ], "hgvs": [ "NC_000020.10:g.62317222C>T", "CM000682.1:g.62317222C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 61787666, "referenceAllele": "C", "start": 61787665 } ], "hgvs": [ "NC_000020.9:g.61787666C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 33060, "referenceAllele": "C", "start": 33059 } ], "hgvs": [ "NG_033901.1:g.33060C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005587" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1019, "referenceAllele": "C", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000425905.7:n.1019C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS914046" }, { "coordinates": [ { "allele": "T", "end": 1019, "referenceAllele": "C", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000425905.6:c.1019C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS904801" }, { "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.7:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Arg473Ter", "hgvsWellDefined": "ENSP00000424307.2:p.Arg473_Leu1243delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825539" }, { "coordinates": [ { "allele": "T", "end": 1175, "referenceAllele": "C", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000687123.1:n.1175C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830920" }, { "coordinates": [ { "allele": "T", "end": 1389, "referenceAllele": "C", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.9:c.676C>T" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:p.Arg226Ter", "hgvsWellDefined": "ENSP00000322287.5:p.Arg226_Leu996delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746191" }, { "coordinates": [ { "allele": "T", "end": 1670, "referenceAllele": "C", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.11:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Arg449Ter", "hgvsWellDefined": "ENSP00000353332.5:p.Arg449_Gln1300delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749287", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.1345C>T" }, "RefSeq": { "hgvs": "NM_001283009.2:c.1345C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Arg449Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Arg449Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1667, "referenceAllele": "C", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000482936.6:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000457868.2:p.Arg449Ter", "hgvsWellDefined": "ENSP00000457868.2:p.Arg449_Ser1004delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGluArgArgArgIleProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757425" }, { "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "C", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000647249.1:n.276C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769313" }, { "coordinates": [ { "allele": "T", "end": 1893, "referenceAllele": "C", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.8:c.676C>T" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:p.Arg226Ter", "hgvsWellDefined": "ENSP00000322287.5:p.Arg226_Leu996delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257483" }, { "coordinates": [ { "allele": "T", "end": 1670, "referenceAllele": "C", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.9:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Arg449Ter", "hgvsWellDefined": "ENSP00000353332.5:p.Arg449_Gln1300delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265046" }, { "coordinates": [ { "allele": "T", "end": 2172, "referenceAllele": "C", "start": 2171 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000370018.7:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000359035.3:p.Arg449Ter", "hgvsWellDefined": "ENSP00000359035.3:p.Arg449_Leu1219delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267828" }, { "coordinates": [ { "allele": "T", "end": 1345, "referenceAllele": "C", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000482936.5:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000457868.1:p.Arg449Ter", "hgvsWellDefined": "ENSP00000457868.1:p.Arg449_Ala1400delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProHisLysAspHisGluGlyAlaGlyGlyAlaArgProValAlaAlaValProGlyValGlyAlaAlaCysProAlaAlaGlyAlaGlyCysThrArgSerGlyArgAsnThrHisLeuProLeuAlaGlyArgArgAspArgGlyAlaAlaGlyValArgProValProProArgHisLeuCysAlaAlaAlaValProProArgGlnProHisAspValTrpProValSerThrAlaProLeuHisAlaValLeuGluLeuProArgAlaLeuProLeuLeuGlnArgProLeuArgGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS322518" }, { "coordinates": [ { "allele": "T", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000492259.6:c.1429C>T" ], "proteinEffect": { "hgvs": "ENSP00000457428.1:p.Arg477Ter", "hgvsWellDefined": "ENSP00000457428.1:p.Arg477_Ala785delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgCysGlnArgArgProProGlyLeuGlnHisProValCysValGluLysMetLeuSerAlaArgProSerArgLeuAlaProSerSerProProGlyLysLeuArgValTrpThrCysMetSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329678" }, { "coordinates": [ { "allele": "T", "end": 1763, "referenceAllele": "C", "start": 1762 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.6:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Arg473Ter", "hgvsWellDefined": "ENSP00000424307.2:p.Arg473_Leu1243delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339569" }, { "@id": "http://reg.genome.network/allele/PA2826679327", "coordinates": [ { "allele": "T", "end": 2172, "referenceAllele": "C", "start": 2171 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.1:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Arg449Ter", "hgvsWellDefined": "NP_001269938.1:p.Arg449_Gln1300delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022415" }, { "@id": "http://reg.genome.network/allele/PA2826680864", "coordinates": [ { "allele": "T", "end": 1893, "referenceAllele": "C", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283010.1:c.676C>T" ], "proteinEffect": { "hgvs": "NP_001269939.1:p.Arg226Ter", "hgvsWellDefined": "NP_001269939.1:p.Arg226_Leu996delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022416" }, { "@id": "http://reg.genome.network/allele/PA2829835117", "coordinates": [ { "allele": "T", "end": 2172, "referenceAllele": "C", "start": 2171 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.3:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Arg449Ter", "hgvsWellDefined": "NP_057518.1:p.Arg449_Leu1219delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034688" }, { "@id": "http://reg.genome.network/allele/PA2741998293", "coordinates": [ { "allele": "T", "end": 2244, "referenceAllele": "C", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.4:c.1417C>T" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Arg473Ter", "hgvsWellDefined": "NP_116575.3:p.Arg473_Leu1243delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039421" }, { "coordinates": [ { "allele": "T", "end": 2172, "referenceAllele": "C", "start": 2171 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "NR_037882.1:n.2172C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050171" }, { "@id": "http://reg.genome.network/allele/PA2826679327", "coordinates": [ { "allele": "T", "end": 1670, "referenceAllele": "C", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.2:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Arg449Ter", "hgvsWellDefined": "NP_001269938.1:p.Arg449_Gln1300delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.1345C>T" }, "RefSeq": { "hgvs": "NM_001283009.2:c.1345C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Arg449Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Arg449Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829835117", "coordinates": [ { "allele": "T", "end": 1670, "referenceAllele": "C", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.4:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Arg449Ter", "hgvsWellDefined": "NP_057518.1:p.Arg449_Leu1219delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697724" }, { "@id": "http://reg.genome.network/allele/PA2741998293", "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.5:c.1417C>T" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Arg473Ter", "hgvsWellDefined": "NP_116575.3:p.Arg473_Leu1243delinsGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699223" } ], "type": "nucleotide" }