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"NP_001278340.2:p.Arg1112_Phe2108delinsSerMetMetSerSerTyrThrAlaAspArgSerMetMetSerMetAlaAlaAspSerTyrThrAspSerTyrThrAspThrTyrThrGluAlaTyrMetValProProLeuProProGluGluProProThrMetProProLeuProProGluGluProProMetThrProProLeuProProGluGluProProGluGlyProAlaLeuProThrGluGlnSerAlaLeuThrAlaGluAsnThrTrpProThrGluValProSerSerProSerGluGluSerValSerGlnProGluProProValSerGlnSerGluIleSerGluProSerAlaValProThrAspTyrSerValSerAlaSerAspProSerValLeuValSerGluAlaAlaValThrValProGluProProProGluProGluSerSerIleThrLeuThrProValGluSerAlaValValAlaGluGluHisGluValValProGluArgProValThrCysMetValSerGluThrProAlaMetSerAlaGluProThrValLeuAlaSerGluProProValMetSerGluThrAlaGluThrPheAspSerMetArgAlaSerGlyHisValAlaSerGluValSerThrSerLeuLeuValProAlaValThrThrProValLeuAlaGluSerIleLeuGluProProAlaMetAlaAlaProGluSerSerAlaMetAlaValLeuGluSerSerAlaValThrValLeuGluSerSerThrValThrValLeuGluSerSerThrValThrValLeuGluProSerValValThrValProGluProProValValAlaGluProAspTyrValThrIleProValProValValSerAlaLeuGluProSerValProValLeuGluProAlaValSerValLeuGlnProSerMetIleValSerGluProSerValSerValGlnGluSerThrValThrValSerGluProAlaValThrValSerGluGlnThrGlnValIleProThrGluValAlaIleGluSerThrProMetIleLeuGluSerSerIleMetSerSerHisValMetLysGlyIleAsnLeuSerSerGlyAspGlnAsnLeuAlaProGluIleGlyMetGlnGluIleAlaLeuHisSerGlyGluGluProHisAlaGluGluHisLeuLysGlyAspPheTyrGluSerGluHisGlyIleAsnIleAspLeuAsnIleAsnAsnHisLeuIleAlaLysGluMetGluHisAsnThrValCysAlaAlaGlyThrSerProValGlyGluIleGlyGluGluLysIleLeuProThrSerGluThrLysGlnArgThrValLeuAspThrTyrProGlyValSerGluAlaAspAlaGlyGluThrLeuSerSerThrGlyProPheAlaLeuGluProAspAlaThrGlyThrSerLysGlyIleGluPheThrThrAlaSerThrLeuSerLeuValAsnLysTyrAspValAspLeuSerLeuThrThrGlnAspThrGluHisAspMetValIleSerThrSerProSerGlyGlySerGluAlaAspIleGluGlyProLeuProAlaLysAspIleHisLeuAspLeuProSerAsnAsnAsnLeuValSerLysAspThrGluGluProLeuProValLysGluSerAspGlnThrLeuAlaAlaLeuLeuSerProLysGluSerSerGlyGlyGluLysGluValProProProProLysGluThrLeuProAspSerGlyPheSerAlaAsnIleGluAspIleAsnGluAlaAspLeuValArgProLeuLeuProLysAspMetGluArgLeuThrSerLeuArgAlaGlyIleGluGlyProLeuLeuAlaSerAspValGlyArgAspArgSerAlaAlaSerProValValSerSerMetProGluArgAlaSerGluSerSerSerGluGluLysAspAspTyrGluIlePheValLysValLysAspThrHisGluLysSerLysLysAsnLysAsnArgAspLysGlyGluLysGluLysLysArgAspSerSerLeuArgSerArgSerLysArgSerLysSerSerGluHisLysSerArgLysArgThrSerGluSerArgSerArgAlaArgLysArgSerSerLysSerLysSerHisArgSerGlnThrArgSerArgSerArgSerArgArgArgArgArgSerSerArgSerArgSerLysSerArgGlyArgArgSerValSerLysGluLysArgLysArgSerProLysHisArgSerLysSerArgGluArgLysArgLysArgSerSerSerArgAspAsnArgLysThrValArgAlaArgSerArgThrProSerArgArgSerArgSerHisThrProSerArgArgArgArgSerArgSerValGlyArgArgArgSerPheSerIleSerProSerArgArgSerArgThrProSerArgArgSerArgThrProSerArgArgSerArgThrProSerArgArgSerArgThrProSerArgArgSerArgThrProSerArgArgSerArgThrProSerArgArgArgArgSerArgSerValValArgArgArgSerPheSerIleSerProValArgLeuArgArgSerArgThrProLeuArgArgArgPheSerArgSerProIleArgArgLysArgSerArgSerSerGluArgGlyArgSerProLysArgLeuThrAspLeuAspLysAlaGlnLeuLeuGluIleAlaLysAlaAsnAlaAlaAlaMetCysAlaLysAlaGlyValProLeuProProAsnLeuLysProAlaProProProThrIleGluGluLysValAlaLysLysSerGlyGlyAlaThrIleGluGluLeuThrGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716689" }, { "coordinates": [ { "allele": "T", "end": 299, "endIntronDirection": "-", "endIntronOffset": 4590, "referenceAllele": "C", "start": 299, "startIntronDirection": "-", "startIntronOffset": 4591 } ], "gene": "http://reg.genome.network/gene/GN011183", "geneNCBI_id": 6651, "geneSymbol": "SON", "hgvs": [ "NM_001291412.3:c.245-4591C>T" ], "proteinEffect": { "hgvs": "NP_001278341.1:n.245-4591C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS716690" }, { "coordinates": [ { "allele": "T", "end": 3389, "referenceAllele": "C", "start": 3388 } ], "gene": "http://reg.genome.network/gene/GN011183", "geneNCBI_id": 6651, "geneSymbol": "SON", "hgvs": [ "NM_032195.3:c.3334C>T" ], "proteinEffect": { "hgvs": "NP_115571.3:p.Arg1112Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728809" }, { "coordinates": [ { "allele": "T", "end": 3389, "referenceAllele": "C", "start": 3388 } ], "gene": "http://reg.genome.network/gene/GN011183", "geneNCBI_id": 6651, "geneSymbol": "SON", "hgvs": [ "NM_138927.4:c.3334C>T" ], "proteinEffect": { "hgvs": "NP_620305.3:p.Arg1112Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356577.10:c.3334C>T" }, "RefSeq": { "hgvs": "NM_138927.4:c.3334C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348984.4:p.Arg1112Ter" }, "RefSeq": { "hgvs": "NP_620305.3:p.Arg1112Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3389, "referenceAllele": "C", "start": 3388 } ], "gene": "http://reg.genome.network/gene/GN011183", "geneNCBI_id": 6651, "geneSymbol": "SON", "hgvs": [ "NR_103797.2:n.3389C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730593" } ], "type": "nucleotide" }