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}, "referenceSequence": "http://reg.genome.network/refseq/RS039706" }, { "coordinates": [ { "allele": "T", "end": 3243, "referenceAllele": "G", "start": 3242 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262070.2:c.2926G>T" ], "proteinEffect": { "hgvs": "XP_005262127.1:p.Gly976Ter", "hgvsWellDefined": "XP_005262127.1:p.Gly976_Thr1688delinsValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063311" }, { "coordinates": [ { "allele": "T", "end": 3243, "referenceAllele": "G", "start": 3242 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262072.3:c.2926G>T" ], "proteinEffect": { "hgvs": "XP_005262129.1:p.Gly976Ter", "hgvsWellDefined": "XP_005262129.1:p.Gly976_Lys1096delinsValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysMetIleArgArgTyrValLeuGlyPheValAlaSerProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063312" }, { "coordinates": [ { "allele": "T", "end": 3106, "referenceAllele": "G", "start": 3105 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_006724616.2:c.2926G>T" ], "proteinEffect": { "hgvs": "XP_006724679.1:p.Gly976Ter", "hgvsWellDefined": "XP_006724679.1:p.Gly976_Thr1691delinsValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075622" }, { "coordinates": [ { "allele": "T", "end": 2864, "referenceAllele": "G", "start": 2863 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.1:c.2602G>T" ], "proteinEffect": { "hgvs": "XP_011529151.1:p.Gly868Ter", "hgvsWellDefined": "XP_011529151.1:p.Gly868_Thr1583delinsValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097892" }, { "coordinates": [ { "allele": "T", "end": 3243, "referenceAllele": "G", "start": 3242 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530850.1:c.2926G>T" ], "proteinEffect": { "hgvs": "XP_011529152.1:p.Gly976Ter", "hgvsWellDefined": "XP_011529152.1:p.Gly976_Cys1284delinsValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnThrIleProProSerHisPheGlyLeuSerGlnSerSerGlnPheTyrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097893" }, { "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "G", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530851.1:c.499G>T" ], "proteinEffect": { "hgvs": "XP_011529153.1:p.Gly167Ter", "hgvsWellDefined": "XP_011529153.1:p.Gly167_Thr882delinsValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097894" }, { "coordinates": [ { "allele": "T", "end": 2956, "referenceAllele": "G", "start": 2955 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.2:c.2941G>T" ], "proteinEffect": { "hgvs": "XP_011529151.2:p.Gly981Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS550135" }, { "coordinates": [ { "allele": "T", "end": 2956, "referenceAllele": "G", "start": 2955 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029259.2:c.2941G>T" ], "proteinEffect": { "hgvs": "XP_016884748.1:p.Gly981Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578835" }, { "coordinates": [ { "allele": "T", "end": 2956, "referenceAllele": "G", "start": 2955 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029260.1:c.2941G>T" ], "proteinEffect": { "hgvs": "XP_016884749.1:p.Gly981Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578836" }, { "coordinates": [ { "allele": "T", "end": 2956, "referenceAllele": "G", "start": 2955 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029261.1:c.2941G>T" ], "proteinEffect": { "hgvs": "XP_016884750.1:p.Gly981Ter", "hgvsWellDefined": "XP_016884750.1:p.Gly981_Leu1330delinsValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnTrpPheAspLeuIleValGlnArgGluIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578837" }, { "coordinates": [ { "allele": "T", "end": 2956, "referenceAllele": "G", "start": 2955 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029262.2:c.2941G>T" ], "proteinEffect": { "hgvs": "XP_016884751.1:p.Gly981Ter", "hgvsWellDefined": "XP_016884751.1:p.Gly981_Cys1289delinsValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnThrIleProProSerHisPheGlyLeuSerGlnSerSerGlnPheTyrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578838" }, { "coordinates": [ { "allele": "T", "end": 2040, "referenceAllele": "G", "start": 2039 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029263.2:c.1261G>T" ], "proteinEffect": { "hgvs": "XP_016884752.1:p.Gly421Ter", "hgvsWellDefined": "XP_016884752.1:p.Gly421_Thr1136delinsValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578839" }, { "@id": "http://reg.genome.network/allele/PA2825199287", "coordinates": [ { "allele": "T", "end": 3214, "referenceAllele": "G", "start": 3213 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.5:c.2926G>T" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gly976Ter", "hgvsWellDefined": "NP_000486.1:p.Gly976_Thr1685delinsValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674868" }, { "@id": "http://reg.genome.network/allele/PA1139746717", "coordinates": [ { "allele": "T", "end": 3214, "referenceAllele": "G", "start": 3213 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.3:c.2926G>T" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gly976Ter", "hgvsWellDefined": "NP_203699.1:p.Gly976_Thr1691delinsValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.2926G>T" }, "RefSeq": { "hgvs": "NM_033380.3:c.2926G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gly976Ter" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gly976Ter" } } } } ], "type": "nucleotide" }