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"ENSP00000496633.1:p.Gln119_Ser385delinsArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuArgValHisLeuProGlyArgLeuArgLeuLeuGlnProSerGlnTyrGlnAspGlnPheLeuLysGlnAspLeuProGlnIleArgArgLysAspLeuGluHisProLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767038" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000643784.1:c.355C>T" ], "proteinEffect": { "hgvs": "ENSP00000494944.1:p.Gln119Ter", "hgvsWellDefined": "ENSP00000494944.1:p.Gln119_Val197delinsArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgPheCysValAsnIlePheGlnAspPheHisLeuValThrLysValIlePheLeuSerThrValIleLysValPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767470" }, { "coordinates": [ { "allele": "T", "end": 256, "referenceAllele": "C", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000647662.1:n.256C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769542" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS770987" }, { "coordinates": [ { "allele": "T", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000367435.3:c.355C>T" ], "proteinEffect": { "hgvs": "ENSP00000356405.3:p.Gln119Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS266385" }, { "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "C", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000482484.1:n.607C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322165" }, { "@id": "http://reg.genome.network/allele/PA645392329", "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "NM_024529.4:c.355C>T", "LRG_507t1:c.355C>T" ], "proteinEffect": { "hgvs": "NP_078805.3:p.Gln119Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS037799" }, { "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "XM_006711537.2:c.355C>T" ], "proteinEffect": { "hgvs": "XP_006711600.1:p.Gln119Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS698706", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367435.5:c.355C>T" }, "RefSeq": { "hgvs": "NM_024529.5:c.355C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356405.4:p.Gln119Ter" }, "RefSeq": { "hgvs": "NP_078805.3:p.Gln119Ter" } } } } ], "type": "nucleotide" }