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"XP_011532918.1:p.Arg611_Ile1327delinsSerLeuValCysGlySerLysValLysLeuCysTyrIleGlyAlaGlyAspGluGluLysArgSerAspSerIleSerIleCysThrThrSerAspAspGlySerSerAspLeuAspProIleGluHisSerSerGluSerAspAsnSerValLeuGluIleProAspAlaPheAspArgThrGluAsnMetLeuSerMetGlnLysAsnGluLysIleLysTyrSerArgPheAlaAlaThrAsnThrArgValLysAlaLysGlnLysProLeuIleSerAsnSerHisThrAspHisLeuMetGlyCysThrLysSerAlaGluProGlyThrGluThrSerGlnValAsnLeuSerAspLeuLysAlaSerThrLeuValHisLysProGlnSerAspPheThrAsnAspAlaLeuSerProLysPheAsnLeuSerSerSerIleSerSerGluAsnSerLeuIleLysGlyGlyAlaAlaAsnGlnAlaLeuLeuHisSerLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysGluIleMetLysValAsnValLysGluAsnGlnLeuArgAsnPheLeuAsnProMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101628" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_001365684.1:c.1024C>T" ], "proteinEffect": { "hgvs": "NP_001352613.1:p.Arg342Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS524206" }, { "coordinates": [ { "allele": "T", "end": 1978, "referenceAllele": "C", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446150.1:c.1831C>T" ], "proteinEffect": { "hgvs": "XP_024301918.1:p.Arg611Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579825" }, { "coordinates": [ { "allele": "T", "end": 1953, "referenceAllele": "C", "start": 1952 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446151.1:c.1831C>T" ], "proteinEffect": { "hgvs": "XP_024301919.1:p.Arg611Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579826" }, { "coordinates": [ { "allele": "T", "end": 1907, "referenceAllele": "C", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446152.1:c.1831C>T" ], "proteinEffect": { "hgvs": "XP_024301920.1:p.Arg611Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579827" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446153.1:c.1831C>T" ], "proteinEffect": { "hgvs": "XP_024301921.1:p.Arg611Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579828" }, { "coordinates": [ { "allele": "T", "end": 1619, "referenceAllele": "C", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Arg471Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "T", "end": 1317, "referenceAllele": "C", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.1024C>T" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Arg342Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "T", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.1024C>T" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Arg342Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.1024C>T" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Arg342Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "T", "end": 1002, "referenceAllele": "C", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.775C>T" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Arg259Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "T", "end": 2057, "referenceAllele": "C", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446160.1:c.1831C>T" ], "proteinEffect": { "hgvs": "XP_024301928.1:p.Arg611Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579834" }, { "coordinates": [ { "allele": "T", "end": 2057, "referenceAllele": "C", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446161.1:c.1831C>T" ], "proteinEffect": { "hgvs": "XP_024301929.1:p.Arg611Ter", "hgvsWellDefined": "XP_024301929.1:p.Arg611_Glu1499delinsSerLeuValCysGlySerLysValLysLeuCysTyrIleGlyAlaGlyAspGluGluLysArgSerAspSerIleSerIleCysThrThrSerAspAspGlySerSerAspLeuAspProIleGluHisSerSerGluSerAspAsnSerValLeuGluIleProAspAlaPheAspArgThrGluAsnMetLeuSerMetGlnLysAsnGluLysIleLysTyrSerArgPheAlaAlaThrAsnThrArgValLysAlaLysGlnLysProLeuIleSerAsnSerHisThrAspHisLeuMetGlyCysThrLysSerAlaGluProGlyThrGluThrSerGlnValAsnLeuSerAspLeuLysAlaSerThrLeuValHisLysProGlnSerAspPheThrAsnAspAlaLeuSerProLysPheAsnLeuSerSerSerIleSerSerGluAsnSerLeuIleLysGlyGlyAlaAlaAsnGlnAlaLeuLeuHisSerLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579835" }, { "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.-2165C>T" ], "proteinEffect": { "hgvs": "XP_024301930.1:n.-2165C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "T", "end": 2028, "referenceAllele": "C", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.1831C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Arg611Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.1831C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.1831C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Arg611Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Arg611Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1248, "referenceAllele": "C", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.1024C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Arg342Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }