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}, "referenceSequence": "http://reg.genome.network/refseq/RS749508" }, { "coordinates": [ { "allele": "T", "end": 3719, "referenceAllele": "C", "start": 3718 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.10:c.3475C>T" ], "proteinEffect": { "hgvs": "ENSP00000331902.6:p.Gln1159Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS258897" }, { "coordinates": [ { "allele": "T", "end": 3719, "referenceAllele": "C", "start": 3718 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.6:c.3475C>T" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Gln1159Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS265564" }, { "@id": "http://reg.genome.network/allele/PA2825199727", "coordinates": [ { "allele": "T", "end": 3757, "referenceAllele": "C", "start": 3756 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.4:c.3475C>T" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gln1159Ter", "hgvsWellDefined": "NP_000486.1:p.Gln1159_Thr1685delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006549" }, { "@id": "http://reg.genome.network/allele/PA913201912", "coordinates": [ { "allele": "T", "end": 3757, "referenceAllele": "C", "start": 3756 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.2:c.3475C>T" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gln1159Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS039706" }, { "coordinates": [ { "allele": "T", "end": 3792, "referenceAllele": "C", "start": 3791 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262070.2:c.3475C>T" ], "proteinEffect": { "hgvs": "XP_005262127.1:p.Gln1159Ter", "hgvsWellDefined": "XP_005262127.1:p.Gln1159_Thr1688delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063311" }, { "coordinates": [ { "allele": "T", "end": 3655, "referenceAllele": "C", "start": 3654 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_006724616.2:c.3475C>T" ], "proteinEffect": { "hgvs": "XP_006724679.1:p.Gln1159Ter", "hgvsWellDefined": "XP_006724679.1:p.Gln1159_Thr1691delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075622" }, { "coordinates": [ { "allele": "T", "end": 3413, "referenceAllele": "C", "start": 3412 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.1:c.3151C>T" ], "proteinEffect": { "hgvs": "XP_011529151.1:p.Gln1051Ter", "hgvsWellDefined": "XP_011529151.1:p.Gln1051_Thr1583delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097892" }, { "coordinates": [ { "allele": "T", "end": 3792, "referenceAllele": "C", "start": 3791 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530850.1:c.3475C>T" ], "proteinEffect": { "hgvs": "XP_011529152.1:p.Gln1159Ter", "hgvsWellDefined": "XP_011529152.1:p.Gln1159_Cys1284delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnThrIleProProSerHisPheGlyLeuSerGlnSerSerGlnPheTyrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097893" }, { "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530851.1:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_011529153.1:p.Gln350Ter", "hgvsWellDefined": "XP_011529153.1:p.Gln350_Thr882delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097894" }, { "coordinates": [ { "allele": "T", "end": 3505, "referenceAllele": "C", "start": 3504 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.2:c.3490C>T" ], "proteinEffect": { "hgvs": "XP_011529151.2:p.Gln1164Ter", "hgvsWellDefined": "XP_011529151.2:p.Gln1164_Thr1696delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550135" }, { "coordinates": [ { "allele": "T", "end": 3505, "referenceAllele": "C", "start": 3504 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029259.2:c.3490C>T" ], "proteinEffect": { "hgvs": "XP_016884748.1:p.Gln1164Ter", "hgvsWellDefined": "XP_016884748.1:p.Gln1164_Thr1693delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578835" }, { "coordinates": [ { "allele": "T", "end": 3505, "referenceAllele": "C", "start": 3504 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029260.1:c.3490C>T" ], "proteinEffect": { "hgvs": "XP_016884749.1:p.Gln1164Ter", "hgvsWellDefined": "XP_016884749.1:p.Gln1164_Thr1690delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578836" }, { "coordinates": [ { "allele": "T", "end": 3505, "referenceAllele": "C", "start": 3504 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029261.1:c.3490C>T" ], "proteinEffect": { "hgvs": "XP_016884750.1:p.Gln1164Ter", "hgvsWellDefined": "XP_016884750.1:p.Gln1164_Leu1330delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnTrpPheAspLeuIleValGlnArgGluIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578837" }, { "coordinates": [ { "allele": "T", "end": 3505, "referenceAllele": "C", "start": 3504 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029262.2:c.3490C>T" ], "proteinEffect": { "hgvs": "XP_016884751.1:p.Gln1164Ter", "hgvsWellDefined": "XP_016884751.1:p.Gln1164_Cys1289delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnThrIleProProSerHisPheGlyLeuSerGlnSerSerGlnPheTyrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578838" }, { "coordinates": [ { "allele": "T", "end": 2589, "referenceAllele": "C", "start": 2588 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029263.2:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_016884752.1:p.Gln604Ter", "hgvsWellDefined": "XP_016884752.1:p.Gln604_Thr1136delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578839" }, { "@id": "http://reg.genome.network/allele/PA2825199727", "coordinates": [ { "allele": "T", "end": 3763, "referenceAllele": "C", "start": 3762 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.5:c.3475C>T" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gln1159Ter", "hgvsWellDefined": "NP_000486.1:p.Gln1159_Thr1685delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674868" }, { "@id": "http://reg.genome.network/allele/PA913201912", "coordinates": [ { "allele": "T", "end": 3763, "referenceAllele": "C", "start": 3762 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.3:c.3475C>T" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gln1159Ter", "hgvsWellDefined": "NP_203699.1:p.Gln1159_Thr1691delinsProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.3475C>T" }, "RefSeq": { "hgvs": "NM_033380.3:c.3475C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gln1159Ter" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gln1159Ter" } } } } ], "type": "nucleotide" }