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"http://reg.genome.network/refseq/RS387804" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "G", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000584617.5:c.90G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS388304" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "G", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NM_002876.3:c.109G>T" ], "proteinEffect": { "hgvs": "NP_002867.1:p.Glu37Ter", "hgvsWellDefined": "NP_002867.1:p.Glu37_Trp135delinsLeuLeuGluValLysProSerGluLeuSerLysGluValGlyIleSerLysAlaGluAlaLeuGluThrLeuGlnIleIleArgArgGluCysLeuThrAsnLysProArgTyrAlaGlyThrSerGluSerHisLysLysCysThrAlaLeuGluLeuLeuGluGlnGluHisThrGlnGlyPheIleIleThrPheCysSerAlaLeuAspAspIleLeuGlyGlyGlyValProLeuMetLysThrThrGluIleCysGlyAlaProGlyValGlyLysThrGlnLeuTrpTer" }, "referenceSequence": 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{ "hgvs": "XP_006722064.1:p.Glu37Ter", "hgvsWellDefined": "XP_006722064.1:p.Glu37_Leu377delinsLeuLeuGluValLysProSerGluLeuSerLysGluValGlyIleSerLysAlaGluAlaLeuGluThrLeuGlnIleIleArgArgGluCysLeuThrAsnLysProArgTyrAlaGlyThrSerGluSerHisLysLysCysThrAlaLeuGluLeuLeuGluGlnGluHisThrGlnGlyPheIleIleThrPheCysSerAlaLeuAspAspIleLeuGlyGlyGlyValProLeuMetLysThrThrGluIleCysGlyAlaProGlyValGlyLysThrGlnLeuCysMetGlnLeuAlaValAspValGlnIleProGluCysPheGlyGlyValAlaGlyGluAlaValPheIleAspThrGluGlySerPheMetValAspArgValValAspLeuAlaThrAlaCysIleGlnHisLeuGlnLeuIleAlaGluLysHisLysGlyGluGluHisArgLysAlaLeuGluAspPheThrLeuAspAsnIleLeuSerHisIleTyrTyrPheArgCysArgAspTyrThrGluLeuLeuAlaGlnValTyrLeuLeuProAspPheLeuSerGluHisSerLysValArgLeuValIleValAspGlyIleAlaPheProPheArgHisAspLeuAspAspLeuSerLeuArgThrArgLeuLeuAsnGlyLeuAlaGlnGlnMetIleSerLeuAlaAsnAsnHisArgLeuAlaValIleLeuThrAsnGlnMetThrThrLysIleAspArgAsnGlnAlaLeuLeuValProAlaLeuGlyGluSerTrpGlyHisAlaAlaThrIleArgLeuIlePheHisTrpAspArgLysGlnSerArgLeuAlaThrLeuTyrLysSerProSerGlnLysGluCysThrValLeuPheGlnIleLysProGlnGlyPheArgAspThrValValThrSerAlaCysSerLeuGlnThrGluGlySerLeuSerThrArgLysArgSerArgAspProGluGluGluLeuTer" 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"XP_006722065.1:p.Glu37_Pro342delinsLeuLeuGluValLysProSerGluLeuSerLysGluValGlyIleSerLysAlaGluAlaLeuGluThrLeuGlnIleIleArgArgGluCysLeuThrAsnLysProArgTyrAlaGlyThrSerGluSerHisLysLysCysThrAlaLeuGluLeuLeuGluGlnGluHisThrGlnGlyPheIleIleThrPheCysSerAlaLeuAspAspIleLeuGlyGlyGlyValProLeuMetLysThrThrGluIleCysGlyAlaProGlyValGlyLysThrGlnLeuCysMetGlnLeuAlaValAspValGlnIleProGluCysPheGlyGlyValAlaGlyGluAlaValPheIleAspThrGluGlySerPheMetValAspArgValValAspLeuAlaThrAlaCysIleGlnHisLeuGlnLeuIleAlaGluLysHisLysGlyGluGluHisArgLysAlaLeuGluAspPheThrLeuAspAsnIleLeuSerHisIleTyrTyrPheArgCysArgAspTyrThrGluLeuLeuAlaGlnValTyrLeuLeuProAspPheLeuSerGluHisSerLysValArgLeuValIleValAspGlyIleAlaPheProPheArgHisAspLeuAspAspLeuSerLeuArgThrArgLeuLeuAsnGlyLeuAlaGlnGlnMetIleSerLeuAlaAsnAsnHisArgLeuAlaValIleLeuThrAsnGlnMetThrThrLysIleAspArgAsnGlnAlaLeuLeuValProAlaLeuGlyTrpGlnHisCysThrSerHisProAlaArgArgAsnAlaGlnTyrCysPheLysSerAsnLeuArgAspLeuGluIleLeuLeuLeuLeuLeuHisValHisCysLysGlnLysValProTer" }, "referenceSequence": 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"XP_006722064.1:p.Glu37_Leu377delinsLeuLeuGluValLysProSerGluLeuSerLysGluValGlyIleSerLysAlaGluAlaLeuGluThrLeuGlnIleIleArgArgGluCysLeuThrAsnLysProArgTyrAlaGlyThrSerGluSerHisLysLysCysThrAlaLeuGluLeuLeuGluGlnGluHisThrGlnGlyPheIleIleThrPheCysSerAlaLeuAspAspIleLeuGlyGlyGlyValProLeuMetLysThrThrGluIleCysGlyAlaProGlyValGlyLysThrGlnLeuCysMetGlnLeuAlaValAspValGlnIleProGluCysPheGlyGlyValAlaGlyGluAlaValPheIleAspThrGluGlySerPheMetValAspArgValValAspLeuAlaThrAlaCysIleGlnHisLeuGlnLeuIleAlaGluLysHisLysGlyGluGluHisArgLysAlaLeuGluAspPheThrLeuAspAsnIleLeuSerHisIleTyrTyrPheArgCysArgAspTyrThrGluLeuLeuAlaGlnValTyrLeuLeuProAspPheLeuSerGluHisSerLysValArgLeuValIleValAspGlyIleAlaPheProPheArgHisAspLeuAspAspLeuSerLeuArgThrArgLeuLeuAsnGlyLeuAlaGlnGlnMetIleSerLeuAlaAsnAsnHisArgLeuAlaValIleLeuThrAsnGlnMetThrThrLysIleAspArgAsnGlnAlaLeuLeuValProAlaLeuGlyGluSerTrpGlyHisAlaAlaThrIleArgLeuIlePheHisTrpAspArgLysGlnSerArgLeuAlaThrLeuTyrLysSerProSerGlnLysGluCysThrValLeuPheGlnIleLysProGlnGlyPheArgAspThrValValThrSerAlaCysSerLeuGlnThrGluGlySerLeuSerThrArgLysArgSerArgAspProGluGluGluLeuTer" 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"http://reg.genome.network/refseq/RS540441" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "+", "endIntronOffset": 67, "referenceAllele": "G", "start": 109, "startIntronDirection": "+", "startIntronOffset": 66 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722004.3:c.-207+67G>T" ], "proteinEffect": { "hgvs": "XP_006722067.1:n.-207+67G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540442" }, { "coordinates": [ { "allele": "T", "end": 95, "endIntronDirection": "+", "endIntronOffset": 120, "referenceAllele": "G", "start": 95, "startIntronDirection": "+", "startIntronOffset": 119 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722005.3:c.-207+120G>T" ], "proteinEffect": { "hgvs": "XP_006722068.1:n.-207+120G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540443" }, { "coordinates": [ { 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"hgvs": "XP_016880408.1:n.-668+67G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS575360" }, { "coordinates": [ { "allele": "T", "end": 613, "referenceAllele": "G", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934513.3:n.613G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610716" }, { "coordinates": [ { "allele": "T", "end": 613, "referenceAllele": "G", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934514.3:n.613G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610717" }, { "coordinates": [ { "allele": "T", "end": 151, "referenceAllele": "G", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NM_058216.3:c.109G>T" ], "proteinEffect": { "hgvs": "NP_478123.1:p.Glu37Ter", "hgvsWellDefined": "NP_478123.1:p.Glu37_Leu376delinsLeuLeuGluValLysProSerGluLeuSerLysGluValGlyIleSerLysAlaGluAlaLeuGluThrLeuGlnIleIleArgArgGluCysLeuThrAsnLysProArgTyrAlaGlyThrSerGluSerHisLysLysCysThrAlaLeuGluLeuLeuGluGlnGluHisThrGlnGlyPheIleIleThrPheCysSerAlaLeuAspAspIleLeuGlyGlyGlyValProLeuMetLysThrThrGluIleCysGlyAlaProGlyValGlyLysThrGlnLeuCysMetGlnLeuAlaValAspValGlnIleProGluCysPheGlyGlyValAlaGlyGluAlaValPheIleAspThrGluGlySerPheMetValAspArgValValAspLeuAlaThrAlaCysIleGlnHisLeuGlnLeuIleAlaGluLysHisLysGlyGluGluHisArgLysAlaLeuGluAspPheThrLeuAspAsnIleLeuSerHisIleTyrTyrPheArgCysArgAspTyrThrGluLeuLeuAlaGlnValTyrLeuLeuProAspPheLeuSerGluHisSerLysValArgLeuValIleValAspGlyIleAlaPheProPheArgHisAspLeuAspAspLeuSerLeuArgThrArgLeuLeuAsnGlyLeuAlaGlnGlnMetIleSerLeuAlaAsnAsnHisArgLeuAlaValIleLeuThrAsnGlnMetThrThrLysIleAspArgAsnGlnAlaLeuLeuValProAlaLeuGlyGluSerTrpGlyHisAlaAlaThrIleArgLeuIlePheHisTrpAspArgLysGlnArgLeuAlaThrLeuTyrLysSerProSerGlnLysGluCysThrValLeuPheGlnIleLysProGlnGlyPheArgAspThrValValThrSerAlaCysSerLeuGlnThrGluGlySerLeuSerThrArgLysArgSerArgAspProGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671701", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000337432.9:c.109G>T" }, "RefSeq": { "hgvs": "NM_058216.3:c.109G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000336701.4:p.Glu37Ter" }, "RefSeq": { "hgvs": "NP_478123.1:p.Glu37Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 151, "referenceAllele": "G", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NR_103872.2:n.151G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702892" }, { "coordinates": [ { "allele": "T", "end": 151, "referenceAllele": "G", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NM_002876.4:c.109G>T" ], "proteinEffect": { "hgvs": "NP_002867.1:p.Glu37Ter", "hgvsWellDefined": "NP_002867.1:p.Glu37_Trp135delinsLeuLeuGluValLysProSerGluLeuSerLysGluValGlyIleSerLysAlaGluAlaLeuGluThrLeuGlnIleIleArgArgGluCysLeuThrAsnLysProArgTyrAlaGlyThrSerGluSerHisLysLysCysThrAlaLeuGluLeuLeuGluGlnGluHisThrGlnGlyPheIleIleThrPheCysSerAlaLeuAspAspIleLeuGlyGlyGlyValProLeuMetLysThrThrGluIleCysGlyAlaProGlyValGlyLysThrGlnLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727322" } ], "type": "nucleotide" }