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"http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.2573T>A" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Leu858Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "A", "end": 2479, "referenceAllele": "T", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.2186T>A" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Leu729Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "A", "end": 2326, "referenceAllele": "T", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.2186T>A" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Leu729Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "A", "end": 2370, "referenceAllele": "T", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.2186T>A" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Leu729Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "A", "end": 2164, "referenceAllele": "T", "start": 2163 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.1937T>A" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Leu646Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "A", "end": 3219, "referenceAllele": "T", "start": 3218 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446160.1:c.2993T>A" ], "proteinEffect": { "hgvs": "XP_024301928.1:p.Leu998Ter", "hgvsWellDefined": "XP_024301928.1:p.Leu999_Leu1728delinsSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluGlyGluLeuMetProHisArgThrAlaThrSerProLysGluThrValGluGluGlyValGluHisAspProGlyMetProAlaSerLysLysMetGlnGlyGluArgGlyGlyGlyAlaAlaLeuLysGluAsnValCysGlnAsnCysGluLysLeuGlyGluLeuLeuLeuCysGluAlaGlnCysCysGlyAlaPheHisLeuGluCysLeuGlyLeuThrGluMetProArgGlyLysPheIleCysAsnGluCysArgThrGlyIleHisThrCysPheValCysLysGlnSerGlyGluAspValLysArgCysLeuLeuProLeuCysGlyLysPheTyrHisGluGluCysValGlnLysTyrProProThrValMetGlnAsnLysGlyPheArgCysSerLeuHisIleCysIleThrCysHisAlaAlaAsnProAlaAsnValSerAlaSerLysGlyArgLeuMetArgCysValArgCysProValAlaTyrHisAlaAsnAspPheCysLeuAlaAlaGlySerLysIleLeuAlaSerAsnSerIleIleCysProAsnHisPheThrProArgArgGlyCysArgAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluAspIleThrLysGluAlaGluHisGlyGlyAlaCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579834" }, { "coordinates": [ { "allele": "A", "end": 3219, "referenceAllele": "T", "start": 3218 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446161.1:c.2993T>A" ], "proteinEffect": { "hgvs": "XP_024301929.1:p.Leu998Ter", "hgvsWellDefined": "XP_024301929.1:p.Leu999_Glu1499delinsSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579835" }, { "coordinates": [ { "allele": "A", "end": 2112, "referenceAllele": "T", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.-1003T>A" ], "proteinEffect": { "hgvs": "XP_024301930.1:n.-1003T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "A", "end": 3190, "referenceAllele": "T", "start": 3189 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.2993T>A" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Leu998Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.2993T>A" }, "RefSeq": { "hgvs": "NM_022455.5:c.2993T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Leu998Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Leu998Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2410, "referenceAllele": "T", "start": 2409 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.2186T>A" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Leu729Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }