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}, "referenceSequence": "http://reg.genome.network/refseq/RS258897" }, { "coordinates": [ { "allele": "A", "end": 3201, "referenceAllele": "T", "start": 3200 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.6:c.2957T>A" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Leu986Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS039706" }, { "coordinates": [ { "allele": "A", "end": 3274, "referenceAllele": "T", "start": 3273 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262070.2:c.2957T>A" ], "proteinEffect": { "hgvs": "XP_005262127.1:p.Leu986Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS063311" }, { "coordinates": [ { "allele": "A", "end": 3274, "referenceAllele": "T", "start": 3273 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262072.3:c.2957T>A" ], "proteinEffect": { "hgvs": "XP_005262129.1:p.Leu986Ter", "hgvsWellDefined": "XP_005262129.1:p.Leu986_Lys1096delinsProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysMetIleArgArgTyrValLeuGlyPheValAlaSerProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063312" }, { "coordinates": [ { "allele": "A", "end": 3137, "referenceAllele": "T", "start": 3136 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_006724616.2:c.2957T>A" ], "proteinEffect": { "hgvs": "XP_006724679.1:p.Leu986Ter", "hgvsWellDefined": "XP_006724679.1:p.Leu986_Thr1691delinsProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075622" }, { "coordinates": [ { "allele": "A", "end": 2895, "referenceAllele": "T", "start": 2894 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.1:c.2633T>A" ], "proteinEffect": { "hgvs": "XP_011529151.1:p.Leu878Ter", "hgvsWellDefined": "XP_011529151.1:p.Leu878_Thr1583delinsProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097892" }, { "coordinates": [ { "allele": "A", "end": 3274, "referenceAllele": "T", "start": 3273 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530850.1:c.2957T>A" ], "proteinEffect": { "hgvs": "XP_011529152.1:p.Leu986Ter", "hgvsWellDefined": "XP_011529152.1:p.Leu986_Cys1284delinsProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnThrIleProProSerHisPheGlyLeuSerGlnSerSerGlnPheTyrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097893" }, { "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "T", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530851.1:c.530T>A" ], "proteinEffect": { "hgvs": "XP_011529153.1:p.Leu177Ter", "hgvsWellDefined": "XP_011529153.1:p.Leu177_Thr882delinsProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097894" }, { "coordinates": [ { "allele": "A", "end": 2987, "referenceAllele": "T", "start": 2986 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.2:c.2972T>A" ], "proteinEffect": { "hgvs": "XP_011529151.2:p.Leu991Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS550135" }, { "coordinates": [ { "allele": "A", "end": 2987, "referenceAllele": "T", "start": 2986 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029259.2:c.2972T>A" ], "proteinEffect": { "hgvs": "XP_016884748.1:p.Leu991Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578835" }, { "coordinates": [ { "allele": "A", "end": 2987, "referenceAllele": "T", "start": 2986 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029260.1:c.2972T>A" ], "proteinEffect": { "hgvs": "XP_016884749.1:p.Leu991Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578836" }, { "coordinates": [ { "allele": "A", "end": 2987, "referenceAllele": "T", "start": 2986 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029261.1:c.2972T>A" ], "proteinEffect": { "hgvs": "XP_016884750.1:p.Leu991Ter", "hgvsWellDefined": "XP_016884750.1:p.Leu991_Leu1330delinsProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnTrpPheAspLeuIleValGlnArgGluIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578837" }, { "coordinates": [ { "allele": "A", "end": 2987, "referenceAllele": "T", "start": 2986 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029262.2:c.2972T>A" ], "proteinEffect": { "hgvs": "XP_016884751.1:p.Leu991Ter", "hgvsWellDefined": "XP_016884751.1:p.Leu991_Cys1289delinsProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnThrIleProProSerHisPheGlyLeuSerGlnSerSerGlnPheTyrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578838" }, { "coordinates": [ { "allele": "A", "end": 2071, "referenceAllele": "T", "start": 2070 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029263.2:c.1292T>A" ], "proteinEffect": { "hgvs": "XP_016884752.1:p.Leu431Ter", "hgvsWellDefined": "XP_016884752.1:p.Leu431_Thr1136delinsProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578839" }, { "@id": "http://reg.genome.network/allele/PA2825199300", "coordinates": [ { "allele": "A", "end": 3245, "referenceAllele": "T", "start": 3244 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.5:c.2957T>A" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Leu986Ter", "hgvsWellDefined": "NP_000486.1:p.Leu986_Thr1685delinsProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674868" }, { "@id": "http://reg.genome.network/allele/PA1139746741", "coordinates": [ { "allele": "A", "end": 3245, "referenceAllele": "T", "start": 3244 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.3:c.2957T>A" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Leu986Ter", "hgvsWellDefined": "NP_203699.1:p.Leu986_Thr1691delinsProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.2957T>A" }, "RefSeq": { "hgvs": "NM_033380.3:c.2957T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Leu986Ter" }, "RefSeq": { "hgvs": "NP_203699.1:p.Leu986Ter" } } } } ], "type": "nucleotide" }