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"ENSP00000459933.1:p.Tyr101_Gly372delinsThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGlyIleLeuTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383997" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000576348.1:n.278C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS384443" }, { "@id": "http://reg.genome.network/allele/PA2741919461", "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "NM_005236.2:c.303C>A", "LRG_463t1:c.303C>A" ], "proteinEffect": { "hgvs": "NP_005227.1:p.Tyr101Ter", "hgvsWellDefined": "NP_005227.1:p.Tyr101_Lys916delinsThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030348" }, { "coordinates": [ { "allele": "A", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522424.1:c.303C>A" ], "proteinEffect": { "hgvs": "XP_011520726.1:p.Tyr101Ter", "hgvsWellDefined": "XP_011520726.1:p.Tyr101_Lys962delinsThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGluIleLeuProLeuThrCysGlnLysHisProThrProGlyProValProSerLeuSerProGlnProGlySerLeuGluLeuSerTrpProArgTrpSerGlnGlySerIleGlnProLeuPheArgTyrHisLeuGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089576" }, { "coordinates": [ { "allele": "A", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XR_932805.1:n.324C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128721" }, { "coordinates": [ { "allele": "T", "end": 82, "endIntronDirection": "+", "endIntronOffset": 4399, "referenceAllele": "G", "start": 82, "startIntronDirection": "+", "startIntronOffset": 4398 } ], "hgvs": [ "XR_933098.1:n.82+4399G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128880" }, { "coordinates": [ { "allele": "T", "end": 82, "endIntronDirection": "+", "endIntronOffset": 4399, "referenceAllele": "G", "start": 82, "startIntronDirection": "+", "startIntronOffset": 4398 } ], "hgvs": [ "XR_933099.1:n.82+4399G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128881" }, { "coordinates": [ { "allele": "T", "end": 82, "endIntronDirection": "+", "endIntronOffset": 4399, "referenceAllele": "G", "start": 82, "startIntronDirection": "+", "startIntronOffset": 4398 } ], "hgvs": [ "XR_933100.1:n.82+4399G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128882" }, { "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522424.3:c.303C>A" ], "proteinEffect": { "hgvs": "XP_011520726.1:p.Tyr101Ter", "hgvsWellDefined": "XP_011520726.1:p.Tyr101_Lys962delinsThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGluIleLeuProLeuThrCysGlnLysHisProThrProGlyProValProSerLeuSerProGlnProGlySerLeuGluLeuSerTrpProArgTrpSerGlnGlySerIleGlnProLeuPheArgTyrHisLeuGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546577" }, { "coordinates": [ { "allele": "A", "end": 286, "referenceAllele": "C", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_017023043.2:c.-635C>A" ], "proteinEffect": { "hgvs": "XP_016878532.1:n.-635C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS573869" }, { "@id": "http://reg.genome.network/allele/PA2741919461", "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "NM_005236.3:c.303C>A" ], "proteinEffect": { "hgvs": "NP_005227.1:p.Tyr101Ter", "hgvsWellDefined": "NP_005227.1:p.Tyr101_Lys916delinsThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696357", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311895.8:c.303C>A" }, "RefSeq": { "hgvs": "NM_005236.3:c.303C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000310520.7:p.Tyr101Ter" }, "RefSeq": { "hgvs": "NP_005227.1:p.Tyr101Ter" } } } } ], "type": "nucleotide" }