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}, "referenceSequence": "http://reg.genome.network/refseq/RS039706" }, { "coordinates": [ { "allele": "T", "end": 3105, "referenceAllele": "C", "start": 3104 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262070.2:c.2788C>T" ], "proteinEffect": { "hgvs": "XP_005262127.1:p.Gln930Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS063311" }, { "coordinates": [ { "allele": "T", "end": 3105, "referenceAllele": "C", "start": 3104 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262072.3:c.2788C>T" ], "proteinEffect": { "hgvs": "XP_005262129.1:p.Gln930Ter", "hgvsWellDefined": "XP_005262129.1:p.Gln930_Lys1096delinsProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysMetIleArgArgTyrValLeuGlyPheValAlaSerProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063312" }, { "coordinates": [ { "allele": "T", "end": 2968, "referenceAllele": "C", "start": 2967 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_006724616.2:c.2788C>T" ], "proteinEffect": { "hgvs": "XP_006724679.1:p.Gln930Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS075622" }, { "coordinates": [ { "allele": "T", "end": 2726, "referenceAllele": "C", "start": 2725 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.1:c.2464C>T" ], "proteinEffect": { "hgvs": "XP_011529151.1:p.Gln822Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS097892" }, { "coordinates": [ { "allele": "T", "end": 3105, "referenceAllele": "C", "start": 3104 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530850.1:c.2788C>T" ], "proteinEffect": { "hgvs": "XP_011529152.1:p.Gln930Ter", "hgvsWellDefined": "XP_011529152.1:p.Gln930_Cys1284delinsProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnThrIleProProSerHisPheGlyLeuSerGlnSerSerGlnPheTyrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097893" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530851.1:c.361C>T" ], "proteinEffect": { "hgvs": "XP_011529153.1:p.Gln121Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS097894" }, { "coordinates": [ { "allele": "T", "end": 2818, "referenceAllele": "C", "start": 2817 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.2:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_011529151.2:p.Gln935Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS550135" }, { "coordinates": [ { "allele": "T", "end": 2818, "referenceAllele": "C", "start": 2817 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029259.2:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_016884748.1:p.Gln935Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578835" }, { "coordinates": [ { "allele": "T", "end": 2818, "referenceAllele": "C", "start": 2817 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029260.1:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_016884749.1:p.Gln935Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578836" }, { "coordinates": [ { "allele": "T", "end": 2818, "referenceAllele": "C", "start": 2817 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029261.1:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_016884750.1:p.Gln935Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578837" }, { "coordinates": [ { "allele": "T", "end": 2818, "referenceAllele": "C", "start": 2817 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029262.2:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_016884751.1:p.Gln935Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578838" }, { "coordinates": [ { "allele": "T", "end": 1902, "referenceAllele": "C", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029263.2:c.1123C>T" ], "proteinEffect": { "hgvs": "XP_016884752.1:p.Gln375Ter", "hgvsWellDefined": "XP_016884752.1:p.Gln375_Thr1136delinsProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578839" }, { "@id": "http://reg.genome.network/allele/PA258763", "coordinates": [ { "allele": "T", "end": 3076, "referenceAllele": "C", "start": 3075 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.5:c.2788C>T" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gln930Ter", "hgvsWellDefined": "NP_000486.1:p.Gln930_Thr1685delinsProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674868" }, { "@id": "http://reg.genome.network/allele/PA258764", "coordinates": [ { "allele": "T", "end": 3076, "referenceAllele": "C", "start": 3075 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.3:c.2788C>T" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gln930Ter", "hgvsWellDefined": "NP_203699.1:p.Gln930_Thr1691delinsProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.2788C>T" }, "RefSeq": { "hgvs": "NM_033380.3:c.2788C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gln930Ter" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gln930Ter" } } } } ], "type": "nucleotide" }