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}, "referenceSequence": "http://reg.genome.network/refseq/RS545240" }, { "coordinates": [ { "allele": "T", "end": 2597, "referenceAllele": "C", "start": 2596 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519143.2:c.2119C>T" ], "proteinEffect": { "hgvs": "XP_011517445.1:p.Arg707Ter", "hgvsWellDefined": "XP_011517445.1:p.Arg707_Met1353delinsLysGlyHisLysGlyTyrProGlyProAlaGlyHisProGlyGluGlnGlyGlnProGlyProGluGlySerProGlyAlaLysGlyTyrProGlyArgGlnGlyLeuProGlyProValGlyAspProGlyProLysGlySerArgGlyTyrIleGlyLeuProGlyLeuPheGlyLeuProGlySerAspGlyGluArgGlyLeuProGlyValProGlyLysArgGlyLysMetGlyMetProGlyPheProGlyValPheGlyGluArgGlyProProGlyLeuAspGlyAsnProGlyGluLeuGlyLeuProGlyProProGlyValProGlyLeuIleGlyAspLeuGlyValLeuGlyProIleGlyTyrProGlyProLysGlyMetLysGlyLeuMetGlySerValGlyGluProGlyLeuLysGlyAspLysGlyGluGlnGlyValProGlyValSerGlyAspProGlyPheGlnGlyAspLysGlySerGlnGlyLeuProGlyPheProGlyAlaArgGlyLysProGlyProLeuGlyLysValGlyAspLysGlySerIleGlyPheProGlyProProGlyProGluGlyPheProGlyAspIleGlyProProGlyAspAsnGlyProGluGlyMetLysGlyLysProGlyAlaArgGlyLeuProGlyProArgGlyGlnLeuGlyProGluGlyAspGluGlyProMetGlyProProGlyAlaProGlyLeuGluGlyGlnProGlyArgLysGlyPheProGlyArgProGlyLeuAspGlyValLysGlyGluProGlyAspProGlyArgProGlyProValGlyGluGlnGlyPheMetGlyPheIleGlyLeuValGlyGluProGlyIleValGlyGluLysGlyAspArgGlyMetMetGlyProProGlyValProGlyProLysGlySerMetGlyHisProGlyMetProGlyGlyMetGlyThrProGlyGluProGlyProGlnGlyProProGlySerArgGlyProProGlyMetArgGlyAlaLysGlyArgArgGlyProArgGlyProAspGlyProAlaGlyGluGlnGlySerArgGlyLeuLysGlyProProGlyProGlnGlyArgProGlyArgProGlyGlnGlnGlyValAlaGlyGluArgGlyHisLeuGlySerArgGlyPheProGlyIleProGlyProSerGlyProProGlyThrLysGlyLeuProGlyGluProGlyProGlnGlyProGlnGlyProIleGlyProProGlyGluMetGlyProLysGlyProProGlyAlaValGlyGluProGlyLeuProGlyGluAlaGlyMetLysGlyAspLeuGlyProLeuGlyThrProGlyGluGlnGlyLeuIleGlyGlnArgGlyGluProGlyLeuGluGlyAspSerGlyProMetGlyProAspGlyLeuLysGlyAspArgGlyAspProGlyProAspGlyGluHisGlyGluLysGlyGlnGluGlyLeuMetGlyGluAspGlyProProGlyProProGlyValThrGlyValArgGlyProGluGlyLysSerGlyLysGlnGlyGluLysGlyArgThrGlyAlaLysGlyAlaLysGlyTyrGlnGlyGlnLeuGlyGluMetGlyValProGlyAspProGlyProProGlyThrProGlyProLysGlySerArgGlySerLeuGlyProThrGlyAlaProGlyArgMetGlyAlaGlnGlyGluProGlyLeuAlaGlyTyrAspGlyHisLysGlyIleValGlyProLeuGlyProProGlyProLysGlyGluLysGlnArgArgGluLeuArgAspArgLysGlySerValAlaGlyHisThrAlaGlyProLeuGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545241" }, { "coordinates": [ { "allele": "T", "end": 2597, "referenceAllele": "C", "start": 2596 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519144.2:c.2119C>T" ], "proteinEffect": { "hgvs": "XP_011517446.1:p.Arg707Ter", "hgvsWellDefined": "XP_011517446.1:p.Arg707_Met1352delinsLysGlyHisLysGlyTyrProGlyProAlaGlyHisProGlyGluGlnGlyGlnProGlyProGluGlySerProGlyAlaLysGlyTyrProGlyArgGlnGlyLeuProGlyProValGlyAspProGlyProLysGlySerArgGlyTyrIleGlyLeuProGlyLeuPheGlyLeuProGlySerAspGlyGluArgGlyLeuProGlyValProGlyLysArgGlyLysMetGlyMetProGlyPheProGlyValPheGlyGluArgGlyProProGlyLeuAspGlyAsnProGlyGluLeuGlyLeuProGlyProProGlyValProGlyLeuIleGlyAspLeuGlyValLeuGlyProIleGlyTyrProGlyProLysGlyMetLysGlyLeuMetGlySerValGlyGluProGlyLeuLysGlyAspLysGlyGluGlnGlyValProGlyValSerGlyAspProGlyPheGlnGlyAspLysGlySerGlnGlyLeuProGlyPheProGlyAlaArgGlyLysProGlyProLeuGlyLysValGlyAspLysGlySerIleGlyPheProGlyProProGlyProGluGlyPheProGlyAspIleGlyProProGlyAspAsnGlyProGluGlyMetLysGlyLysProGlyAlaArgGlyLeuProGlyProArgGlyGlnLeuGlyProGluGlyAspGluGlyProMetGlyProProGlyAlaProGlyLeuGluGlyGlnProGlyArgLysGlyPheProGlyArgProGlyLeuAspGlyValLysGlyGluProGlyAspProGlyArgProGlyProValGlyGluGlnGlyPheMetGlyPheIleGlyLeuValGlyGluProGlyIleValGlyGluLysGlyAspArgGlyMetMetGlyProProGlyValProGlyProLysGlySerMetGlyHisProGlyMetProGlyGlyMetGlyThrProGlyGluProGlyProGlnGlyProProGlySerArgGlyProProGlyMetArgGlyAlaLysGlyArgArgGlyProArgGlyProAspGlyProAlaGlyGluGlnGlySerArgGlyLeuLysGlyProProGlyProGlnGlyArgProGlyArgProGlyGlnGlnGlyValAlaGlyGluArgGlyHisLeuGlySerArgGlyPheProGlyIleProGlyProSerGlyProProGlyThrLysGlyLeuProGlyGluProGlyProGlnGlyProGlnGlyProIleGlyProProGlyGluMetGlyProLysGlyProProGlyAlaValGlyGluProGlyLeuProGlyGluAlaGlyMetLysGlyAspLeuGlyProLeuGlyThrProGlyGluGlnGlyLeuIleGlyGlnArgGlyGluProGlyLeuGluGlyAspSerGlyProMetGlyProAspGlyLeuLysGlyAspArgGlyAspProGlyProAspGlyGluHisGlyGluLysGlyGlnGluGlyLeuMetGlyGluAspGlyProProGlyProProGlyValThrGlyValArgGlyProGluGlyLysSerGlyLysGlnGlyGluLysGlyArgThrGlyAlaLysGlyAlaLysGlyTyrGlnGlyGlnLeuGlyGluMetGlyValProGlyAspProGlyProProGlyThrProGlyProLysGlySerArgGlySerLeuGlyProThrGlyAlaProGlyArgMetGlyAlaGlnGlyGluProGlyLeuAlaGlyTyrAspGlyHisLysGlyIleValGlyProLeuGlyProProGlyProLysGlyGluLysArgArgGluLeuArgAspArgLysGlySerValAlaGlyHisThrAlaGlyProLeuGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545242" }, { "coordinates": [ { "allele": "T", "end": 2598, "referenceAllele": "C", "start": 2597 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_017015239.1:c.2119C>T" ], "proteinEffect": { "hgvs": "XP_016870728.1:p.Arg707Ter", "hgvsWellDefined": "XP_016870728.1:p.Arg707_Gly1214delinsLysGlyHisLysGlyTyrProGlyProAlaGlyHisProGlyGluGlnGlyGlnProGlyProGluGlySerProGlyAlaLysGlyTyrProGlyArgGlnGlyLeuProGlyProValGlyAspProGlyProLysGlySerArgGlyTyrIleGlyLeuProGlyLeuPheGlyLeuProGlySerAspGlyGluArgGlyLeuProGlyValProGlyLysArgGlyLysMetGlyMetProGlyPheProGlyValPheGlyGluArgGlyProProGlyLeuAspGlyAsnProGlyGluLeuGlyLeuProGlyProProGlyValProGlyLeuIleGlyAspLeuGlyValLeuGlyProIleGlyTyrProGlyProLysGlyMetLysGlyLeuMetGlySerValGlyGluProGlyLeuLysGlyAspLysGlyGluGlnGlyValProGlyValSerGlyAspProGlyPheGlnGlyAspLysGlySerGlnGlyLeuProGlyPheProGlyAlaArgGlyLysProGlyProLeuGlyLysValGlyAspLysGlySerIleGlyPheProGlyProProGlyProGluGlyPheProGlyAspIleGlyProProGlyAspAsnGlyProGluGlyMetLysGlyLysProGlyAlaArgGlyLeuProGlyProArgGlyGlnLeuGlyProGluGlyAspGluGlyProMetGlyProProGlyAlaProGlyLeuGluGlyGlnProGlyArgLysGlyPheProGlyArgProGlyLeuAspGlyValLysGlyGluProGlyAspProGlyArgProGlyProValGlyGluGlnGlyPheMetGlyPheIleGlyLeuValGlyGluProGlyIleValGlyGluLysGlyAspArgGlyMetMetGlyProProGlyValProGlyProLysGlySerMetGlyHisProGlyMetProGlyGlyMetGlyThrProGlyGluProGlyProGlnGlyProProGlySerArgGlyProProGlyMetArgGlyAlaLysGlyArgArgGlyProArgGlyProAspGlyProAlaGlyGluGlnGlySerArgGlyLeuLysGlyProProGlyProGlnGlyArgProGlyArgProGlyGlnGlnGlyValAlaGlyGluArgGlyHisLeuGlySerArgGlyPheProGlyIleProGlyProSerGlyProProGlyThrLysGlyLeuProGlyGluProGlyProGlnGlyProGlnGlyProIleGlyProProGlyGluMetGlyProLysGlyProProGlyAlaValGlyGluProGlyLeuProGlyGluAlaGlyMetLysLysSerValAspLysAlaTyrLeuGluGlnGluLeuTrpValThrLeuAspProTrpAlaLeuLeuGlySerArgAlaSerLeuGlyAsnGlyGluSerGlnAlaLeuArgValThrValAlaProTrpAspLeuMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568013" }, { "coordinates": [ { "allele": "T", "end": 2597, "referenceAllele": "C", "start": 2596 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XR_001746405.1:n.2597C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594731" }, { "coordinates": [ { "allele": "T", "end": 2596, "referenceAllele": "C", "start": 2595 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XR_929860.3:n.2596C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609324" }, { "coordinates": [ { "allele": "T", "end": 2597, "referenceAllele": "C", "start": 2596 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XR_929861.2:n.2597C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609325" }, { "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "NM_032888.4:c.2119C>T" ], "proteinEffect": { "hgvs": "NP_116277.2:p.Arg707Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS671452", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356083.8:c.2119C>T" }, "RefSeq": { "hgvs": "NM_032888.4:c.2119C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348385.3:p.Arg707Ter" }, "RefSeq": { "hgvs": "NP_116277.2:p.Arg707Ter" } } } } ], "type": "nucleotide" }