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}, "referenceSequence": "http://reg.genome.network/refseq/RS006184" }, { "@id": "http://reg.genome.network/allele/PA2826882459", "coordinates": [ { "allele": "T", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303416.1:c.1081C>T" ], "proteinEffect": { "hgvs": "NP_001290345.1:p.Arg361Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS025508" }, { "@id": "http://reg.genome.network/allele/PA2826882782", "coordinates": [ { "allele": "T", "end": 1545, "referenceAllele": "C", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303418.1:c.1081C>T" ], "proteinEffect": { "hgvs": "NP_001290347.1:p.Arg361Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS025509" }, { "coordinates": [ { "allele": "T", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510794.1:c.1291C>T" ], "proteinEffect": { "hgvs": "XP_011509096.1:p.Arg431Ter", "hgvsWellDefined": "XP_011509096.1:p.Arg431_Lys788delinsValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078055" }, { "coordinates": [ { "allele": "T", "end": 1221, "referenceAllele": "C", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510795.1:c.835C>T" ], "proteinEffect": { "hgvs": "XP_011509097.1:p.Arg279Ter", "hgvsWellDefined": "XP_011509097.1:p.Arg279_Lys636delinsValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078056" }, { "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510794.2:c.1291C>T" ], "proteinEffect": { "hgvs": "XP_011509096.1:p.Arg431Ter", "hgvsWellDefined": "XP_011509096.1:p.Arg431_Lys788delinsValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541884" }, { "coordinates": [ { "allele": "T", "end": 1203, "referenceAllele": "C", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_017003583.1:c.817C>T" ], "proteinEffect": { "hgvs": "XP_016859072.1:p.Arg273Ter", "hgvsWellDefined": "XP_016859072.1:p.Arg273_Lys630delinsValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559280" }, { "@id": "http://reg.genome.network/allele/PA257547", "coordinates": [ { "allele": "T", "end": 1336, "referenceAllele": "C", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_000122.2:c.1273C>T" ], "proteinEffect": { "hgvs": "NP_000113.1:p.Arg425Ter", "hgvsWellDefined": "NP_000113.1:p.Arg425_Lys782delinsValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285398.7:c.1273C>T" }, "RefSeq": { "hgvs": "NM_000122.2:c.1273C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285398.2:p.Arg425Ter" }, "RefSeq": { "hgvs": "NP_000113.1:p.Arg425Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826882459", "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303416.2:c.1081C>T" ], "proteinEffect": { "hgvs": "NP_001290345.1:p.Arg361Ter", "hgvsWellDefined": "NP_001290345.1:p.Arg361_Lys718delinsValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683583" }, { "@id": "http://reg.genome.network/allele/PA2826882782", "coordinates": [ { "allele": "T", "end": 1595, "referenceAllele": "C", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303418.2:c.1081C>T" ], "proteinEffect": { "hgvs": "NP_001290347.1:p.Arg361Ter", "hgvsWellDefined": "NP_001290347.1:p.Arg361_Lys718delinsValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683584" } ], "type": "nucleotide" }