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"http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.1408C>T" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Gln470Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "T", "end": 1314, "referenceAllele": "C", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.1021C>T" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Gln341Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.1021C>T" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Gln341Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.1021C>T" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Gln341Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "T", "end": 999, "referenceAllele": "C", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.772C>T" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Gln258Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "T", "end": 2054, "referenceAllele": "C", "start": 2053 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446160.1:c.1828C>T" ], "proteinEffect": { "hgvs": "XP_024301928.1:p.Gln610Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579834" }, { "coordinates": [ { "allele": "T", "end": 2054, "referenceAllele": "C", "start": 2053 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446161.1:c.1828C>T" ], "proteinEffect": { "hgvs": "XP_024301929.1:p.Gln610Ter", "hgvsWellDefined": "XP_024301929.1:p.Gln610_Glu1499delinsArgSerLeuValCysGlySerLysValLysLeuCysTyrIleGlyAlaGlyAspGluGluLysArgSerAspSerIleSerIleCysThrThrSerAspAspGlySerSerAspLeuAspProIleGluHisSerSerGluSerAspAsnSerValLeuGluIleProAspAlaPheAspArgThrGluAsnMetLeuSerMetGlnLysAsnGluLysIleLysTyrSerArgPheAlaAlaThrAsnThrArgValLysAlaLysGlnLysProLeuIleSerAsnSerHisThrAspHisLeuMetGlyCysThrLysSerAlaGluProGlyThrGluThrSerGlnValAsnLeuSerAspLeuLysAlaSerThrLeuValHisLysProGlnSerAspPheThrAsnAspAlaLeuSerProLysPheAsnLeuSerSerSerIleSerSerGluAsnSerLeuIleLysGlyGlyAlaAlaAsnGlnAlaLeuLeuHisSerLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579835" }, { "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "C", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.-2168C>T" ], "proteinEffect": { "hgvs": "XP_024301930.1:n.-2168C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "T", "end": 2025, "referenceAllele": "C", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.1828C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Gln610Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.1828C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.1828C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Gln610Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Gln610Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "C", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.1021C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Gln341Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }