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"NP_000113.1:p.Arg195_Lys782delinsGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006184" }, { "@id": "http://reg.genome.network/allele/PA2826882348", "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303416.1:c.391C>T" ], "proteinEffect": { "hgvs": "NP_001290345.1:p.Arg131Ter", "hgvsWellDefined": "NP_001290345.1:p.Arg131_Lys718delinsGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025508" }, { "@id": "http://reg.genome.network/allele/PA2826882671", "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303418.1:c.391C>T" ], "proteinEffect": { "hgvs": "NP_001290347.1:p.Arg131Ter", "hgvsWellDefined": "NP_001290347.1:p.Arg131_Lys718delinsGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025509" }, { "coordinates": [ { "allele": "T", "end": 639, "referenceAllele": "C", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510794.1:c.583C>T" ], "proteinEffect": { "hgvs": "XP_011509096.1:p.Arg195Ter", "hgvsWellDefined": "XP_011509096.1:p.Arg195_Lys788delinsGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaHisLeuProLeuSerGlnIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078055" }, { "coordinates": [ { "allele": "T", "end": 513, "referenceAllele": "C", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510795.1:c.127C>T" ], "proteinEffect": { "hgvs": "XP_011509097.1:p.Arg43Ter", "hgvsWellDefined": "XP_011509097.1:p.Arg43_Lys636delinsGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaHisLeuProLeuSerGlnIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078056" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510794.2:c.583C>T" ], "proteinEffect": { "hgvs": "XP_011509096.1:p.Arg195Ter", "hgvsWellDefined": "XP_011509096.1:p.Arg195_Lys788delinsGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaHisLeuProLeuSerGlnIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541884" }, { "coordinates": [ { "allele": "T", "end": 513, "referenceAllele": "C", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_017003583.1:c.127C>T" ], "proteinEffect": { "hgvs": "XP_016859072.1:p.Arg43Ter", "hgvsWellDefined": "XP_016859072.1:p.Arg43_Lys630delinsGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559280" }, { "@id": "http://reg.genome.network/allele/PA913191638", "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_000122.2:c.583C>T" ], "proteinEffect": { "hgvs": "NP_000113.1:p.Arg195Ter", "hgvsWellDefined": "NP_000113.1:p.Arg195_Lys782delinsGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285398.7:c.583C>T" }, "RefSeq": { "hgvs": "NM_000122.2:c.583C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285398.2:p.Arg195Ter" }, "RefSeq": { "hgvs": "NP_000113.1:p.Arg195Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826882348", "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303416.2:c.391C>T" ], "proteinEffect": { "hgvs": "NP_001290345.1:p.Arg131Ter", "hgvsWellDefined": "NP_001290345.1:p.Arg131_Lys718delinsGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683583" }, { "@id": "http://reg.genome.network/allele/PA2826882671", "coordinates": [ { "allele": "T", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303418.2:c.391C>T" ], "proteinEffect": { "hgvs": "NP_001290347.1:p.Arg131Ter", "hgvsWellDefined": "NP_001290347.1:p.Arg131_Lys718delinsGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683584" } ], "type": "nucleotide" }