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}, "referenceSequence": "http://reg.genome.network/refseq/RS254516" }, { "coordinates": [ { "allele": "T", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN016513", "geneNCBI_id": 117531, "geneSymbol": "TMC1", "hgvs": [ "ENST00000340019.4:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000341433.3:p.Arg34Ter", "hgvsWellDefined": "ENSP00000341433.3:p.Arg35_Gln760delinsGluSerLeuArgProLysArgLysArgThrArgAspValIleAsnGluAspAspProGluProGluProGluAspGluGluThrArgLysAlaArgGluLysGluArgArgArgArgLeuLysArgGlyAlaGluGluGluGluIleAspGluGluGluLeuGluArgLeuLysAlaGluLeuAspGluLysArgGlnIleIleAlaThrValLysCysLysProTrpLysMetGluLysLysIleGluValLeuLysGluAlaLysLysPheValSerGluAsnGluGlyAlaLeuGlyLysGlyLysGlyLysArgTrpPheAlaPheLysMetMetMetAlaLysLysTrpAlaLysPheLeuArgAspPheGluAsnPheLysAlaAlaCysValProTrpGluAsnLysIleLysAlaIleGluSerGlnPheGlySerSerValAlaSerTyrPheLeuPheLeuArgTrpMetTyrGlyValAsnMetValLeuPheIleLeuThrPheSerLeuIleMetLeuProGluTyrLeuTrpGlyLeuProTyrGlySerLeuProArgLysThrValProArgAlaGluGluAlaSerAlaAlaAsnPheGlyValLeuTyrAspPheAsnGlyLeuAlaGlnTyrSerValLeuPheTyrGlyTyrTyrAspAsnLysArgThrIleGlyTrpMetAsnPheArgLeuProLeuSerTyrPheLeuValGlyIleMetCysIleGlyTyrSerPheLeuValValLeuLysAlaMetThrLysAsnIleGlyAspAspGlyGlyGlyAspAspAsnThrPheAsnPheSerTrpLysValPheThrSerTrpAspTyrLeuIleGlyAsnProGluThrAlaAspAsnLysPheAsnSerIleThrMetAsnPheLysGluAlaIleThrGluGluLysAlaAlaGlnValGluGluAsnValHisLeuIleArgPheLeuArgPheLeuAlaAsnPhePheValPheLeuThrLeuGlyGlySerGlyTyrLeuIlePheTrpAlaValLysArgSerGlnGluPheAlaGlnGlnAspProAspThrLeuGlyTrpTrpGluLysAsnGluMetAsnMetValMetSerLeuLeuGlyMetPheCysProThrLeuPheAspLeuPheAlaGluLeuGluAspTyrHisProLeuIleAlaLeuLysTrpLeuLeuGlyArgIlePheAlaLeuLeuLeuGlyAsnLeuTyrValPheIleLeuAlaLeuMetAspGluIleAsnAsnLysIleGluGluGluLysLeuValLysAlaAsnIleThrLeuTrpGluAlaAsnMetIleLysAlaTyrAsnAlaSerPheSerGluAsnSerThrGlyProProPhePheValHisProAlaAspValProArgGlyProCysTrpGluThrMetValGlyGlnGluPheValArgLeuThrValSerAspValLeuThrThrTyrValThrIleLeuIleGlyAspPheLeuArgAlaCysPheValArgPheCysAsnTyrCysTrpCysTrpAspLeuGluTyrGlyTyrProSerTyrThrGluPheAspIleSerGlyAsnValLeuAlaLeuIlePheAsnGlnGlyMetIleTrpMetGlySerPhePheAlaProSerLeuProGlyIleAsnIleLeuArgLeuHisThrSerMetTyrPheGlnCysTrpAlaValMetCysCysAsnValProGluAlaArgValPheLysAlaSerArgSerAsnAsnPheTyrLeuGlyMetLeuLeuLeuIleLeuPheLeuSerThrMetProValLeuTyrMetIleValSerLeuProProSerPheAspCysGlyProPheSerGlyLysAsnArgMetPheGluValIleGlyGluThrLeuGluHisAspPheProSerTrpMetAlaLysIleLeuArgGlnLeuSerAsnProGlyLeuValIleAlaValIleLeuValMetValLeuAlaIleTyrTyrLeuAsnAlaThrAlaLysGlyGlnLysAlaAlaAsnLeuAspLeuLysLysLysMetLysMetGlnAlaLeuGluAsnLysMetArgAsnLysLysMetAlaAlaAlaArgAlaAlaAlaAlaAlaGlyArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261001" }, { "@id": "http://reg.genome.network/allele/PA253003", "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN016513", "geneNCBI_id": 117531, "geneSymbol": "TMC1", "hgvs": [ "NM_138691.2:c.100C>T" ], "proteinEffect": { "hgvs": "NP_619636.2:p.Arg34Ter", "hgvsWellDefined": "NP_619636.2:p.Arg35_Gln760delinsGluSerLeuArgProLysArgLysArgThrArgAspValIleAsnGluAspAspProGluProGluProGluAspGluGluThrArgLysAlaArgGluLysGluArgArgArgArgLeuLysArgGlyAlaGluGluGluGluIleAspGluGluGluLeuGluArgLeuLysAlaGluLeuAspGluLysArgGlnIleIleAlaThrValLysCysLysProTrpLysMetGluLysLysIleGluValLeuLysGluAlaLysLysPheValSerGluAsnGluGlyAlaLeuGlyLysGlyLysGlyLysArgTrpPheAlaPheLysMetMetMetAlaLysLysTrpAlaLysPheLeuArgAspPheGluAsnPheLysAlaAlaCysValProTrpGluAsnLysIleLysAlaIleGluSerGlnPheGlySerSerValAlaSerTyrPheLeuPheLeuArgTrpMetTyrGlyValAsnMetValLeuPheIleLeuThrPheSerLeuIleMetLeuProGluTyrLeuTrpGlyLeuProTyrGlySerLeuProArgLysThrValProArgAlaGluGluAlaSerAlaAlaAsnPheGlyValLeuTyrAspPheAsnGlyLeuAlaGlnTyrSerValLeuPheTyrGlyTyrTyrAspAsnLysArgThrIleGlyTrpMetAsnPheArgLeuProLeuSerTyrPheLeuValGlyIleMetCysIleGlyTyrSerPheLeuValValLeuLysAlaMetThrLysAsnIleGlyAspAspGlyGlyGlyAspAspAsnThrPheAsnPheSerTrpLysValPheThrSerTrpAspTyrLeuIleGlyAsnProGluThrAlaAspAsnLysPheAsnSerIleThrMetAsnPheLysGluAlaIleThrGluGluLysAlaAlaGlnValGluGluAsnValHisLeuIleArgPheLeuArgPheLeuAlaAsnPhePheValPheLeuThrLeuGlyGlySerGlyTyrLeuIlePheTrpAlaValLysArgSerGlnGluPheAlaGlnGlnAspProAspThrLeuGlyTrpTrpGluLysAsnGluMetAsnMetValMetSerLeuLeuGlyMetPheCysProThrLeuPheAspLeuPheAlaGluLeuGluAspTyrHisProLeuIleAlaLeuLysTrpLeuLeuGlyArgIlePheAlaLeuLeuLeuGlyAsnLeuTyrValPheIleLeuAlaLeuMetAspGluIleAsnAsnLysIleGluGluGluLysLeuValLysAlaAsnIleThrLeuTrpGluAlaAsnMetIleLysAlaTyrAsnAlaSerPheSerGluAsnSerThrGlyProProPhePheValHisProAlaAspValProArgGlyProCysTrpGluThrMetValGlyGlnGluPheValArgLeuThrValSerAspValLeuThrThrTyrValThrIleLeuIleGlyAspPheLeuArgAlaCysPheValArgPheCysAsnTyrCysTrpCysTrpAspLeuGluTyrGlyTyrProSerTyrThrGluPheAspIleSerGlyAsnValLeuAlaLeuIlePheAsnGlnGlyMetIleTrpMetGlySerPhePheAlaProSerLeuProGlyIleAsnIleLeuArgLeuHisThrSerMetTyrPheGlnCysTrpAlaValMetCysCysAsnValProGluAlaArgValPheLysAlaSerArgSerAsnAsnPheTyrLeuGlyMetLeuLeuLeuIleLeuPheLeuSerThrMetProValLeuTyrMetIleValSerLeuProProSerPheAspCysGlyProPheSerGlyLysAsnArgMetPheGluValIleGlyGluThrLeuGluHisAspPheProSerTrpMetAlaLysIleLeuArgGlnLeuSerAsnProGlyLeuValIleAlaValIleLeuValMetValLeuAlaIleTyrTyrLeuAsnAlaThrAlaLysGlyGlnLysAlaAlaAsnLeuAspLeuLysLysLysMetLysMetGlnAlaLeuGluAsnLysMetArgAsnLysLysMetAlaAlaAlaArgAlaAlaAlaAlaAlaGlyArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040821" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN016513", "geneNCBI_id": 117531, "geneSymbol": "TMC1", "hgvs": [ "XM_011518213.1:c.688C>T" ], "proteinEffect": { "hgvs": "XP_011516515.1:p.Arg230Ter", "hgvsWellDefined": "XP_011516515.1:p.Arg231_Gln956delinsGluSerLeuArgProLysArgLysArgThrArgAspValIleAsnGluAspAspProGluProGluProGluAspGluGluThrArgLysAlaArgGluLysGluArgArgArgArgLeuLysArgGlyAlaGluGluGluGluIleAspGluGluGluLeuGluArgLeuLysAlaGluLeuAspGluLysArgGlnIleIleAlaThrValLysCysLysProTrpLysMetGluLysLysIleGluValLeuLysGluAlaLysLysPheValSerGluAsnGluGlyAlaLeuGlyLysGlyLysGlyLysArgTrpPheAlaPheLysMetMetMetAlaLysLysTrpAlaLysPheLeuArgAspPheGluAsnPheLysAlaAlaCysValProTrpGluAsnLysIleLysAlaIleGluSerGlnPheGlySerSerValAlaSerTyrPheLeuPheLeuArgTrpMetTyrGlyValAsnMetValLeuPheIleLeuThrPheSerLeuIleMetLeuProGluTyrLeuTrpGlyLeuProTyrGlySerLeuProArgLysThrValProArgAlaGluGluAlaSerAlaAlaAsnPheGlyValLeuTyrAspPheAsnGlyLeuAlaGlnTyrSerValLeuPheTyrGlyTyrTyrAspAsnLysArgThrIleGlyTrpMetAsnPheArgLeuProLeuSerTyrPheLeuValGlyIleMetCysIleGlyTyrSerPheLeuValValLeuLysAlaMetThrLysAsnIleGlyAspAspGlyGlyGlyAspAspAsnThrPheAsnPheSerTrpLysValPheThrSerTrpAspTyrLeuIleGlyAsnProGluThrAlaAspAsnLysPheAsnSerIleThrMetAsnPheLysGluAlaIleThrGluGluLysAlaAlaGlnValGluGluAsnValHisLeuIleArgPheLeuArgPheLeuAlaAsnPhePheValPheLeuThrLeuGlyGlySerGlyTyrLeuIlePheTrpAlaValLysArgSerGlnGluPheAlaGlnGlnAspProAspThrLeuGlyTrpTrpGluLysAsnGluMetAsnMetValMetSerLeuLeuGlyMetPheCysProThrLeuPheAspLeuPheAlaGluLeuGluAspTyrHisProLeuIleAlaLeuLysTrpLeuLeuGlyArgIlePheAlaLeuLeuLeuGlyAsnLeuTyrValPheIleLeuAlaLeuMetAspGluIleAsnAsnLysIleGluGluGluLysLeuValLysAlaAsnIleThrLeuTrpGluAlaAsnMetIleLysAlaTyrAsnAlaSerPheSerGluAsnSerThrGlyProProPhePheValHisProAlaAspValProArgGlyProCysTrpGluThrMetValGlyGlnGluPheValArgLeuThrValSerAspValLeuThrThrTyrValThrIleLeuIleGlyAspPheLeuArgAlaCysPheValArgPheCysAsnTyrCysTrpCysTrpAspLeuGluTyrGlyTyrProSerTyrThrGluPheAspIleSerGlyAsnValLeuAlaLeuIlePheAsnGlnGlyMetIleTrpMetGlySerPhePheAlaProSerLeuProGlyIleAsnIleLeuArgLeuHisThrSerMetTyrPheGlnCysTrpAlaValMetCysCysAsnValProGluAlaArgValPheLysAlaSerArgSerAsnAsnPheTyrLeuGlyMetLeuLeuLeuIleLeuPheLeuSerThrMetProValLeuTyrMetIleValSerLeuProProSerPheAspCysGlyProPheSerGlyLysAsnArgMetPheGluValIleGlyGluThrLeuGluHisAspPheProSerTrpMetAlaLysIleLeuArgGlnLeuSerAsnProGlyLeuValIleAlaValIleLeuValMetValLeuAlaIleTyrTyrLeuAsnAlaThrAlaLysGlyGlnLysAlaAlaAsnLeuAspLeuLysLysLysMetLysMetGlnAlaLeuGluAsnLysMetArgAsnLysLysMetAlaAlaAlaArgAlaAlaAlaAlaAlaGlyArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085389" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN016513", "geneNCBI_id": 117531, "geneSymbol": "TMC1", "hgvs": [ "XM_017014256.1:c.103C>T" ], "proteinEffect": { "hgvs": "XP_016869745.1:p.Arg35Ter", "hgvsWellDefined": "XP_016869745.1:p.Arg36_Gln761delinsGluSerLeuArgProLysArgLysArgThrArgAspValIleAsnGluAspAspProGluProGluProGluAspGluGluThrArgLysAlaArgGluLysGluArgArgArgArgLeuLysArgGlyAlaGluGluGluGluIleAspGluGluGluLeuGluArgLeuLysAlaGluLeuAspGluLysArgGlnIleIleAlaThrValLysCysLysProTrpLysMetGluLysLysIleGluValLeuLysGluAlaLysLysPheValSerGluAsnGluGlyAlaLeuGlyLysGlyLysGlyLysArgTrpPheAlaPheLysMetMetMetAlaLysLysTrpAlaLysPheLeuArgAspPheGluAsnPheLysAlaAlaCysValProTrpGluAsnLysIleLysAlaIleGluSerGlnPheGlySerSerValAlaSerTyrPheLeuPheLeuArgTrpMetTyrGlyValAsnMetValLeuPheIleLeuThrPheSerLeuIleMetLeuProGluTyrLeuTrpGlyLeuProTyrGlySerLeuProArgLysThrValProArgAlaGluGluAlaSerAlaAlaAsnPheGlyValLeuTyrAspPheAsnGlyLeuAlaGlnTyrSerValLeuPheTyrGlyTyrTyrAspAsnLysArgThrIleGlyTrpMetAsnPheArgLeuProLeuSerTyrPheLeuValGlyIleMetCysIleGlyTyrSerPheLeuValValLeuLysAlaMetThrLysAsnIleGlyAspAspGlyGlyGlyAspAspAsnThrPheAsnPheSerTrpLysValPheThrSerTrpAspTyrLeuIleGlyAsnProGluThrAlaAspAsnLysPheAsnSerIleThrMetAsnPheLysGluAlaIleThrGluGluLysAlaAlaGlnValGluGluAsnValHisLeuIleArgPheLeuArgPheLeuAlaAsnPhePheValPheLeuThrLeuGlyGlySerGlyTyrLeuIlePheTrpAlaValLysArgSerGlnGluPheAlaGlnGlnAspProAspThrLeuGlyTrpTrpGluLysAsnGluMetAsnMetValMetSerLeuLeuGlyMetPheCysProThrLeuPheAspLeuPheAlaGluLeuGluAspTyrHisProLeuIleAlaLeuLysTrpLeuLeuGlyArgIlePheAlaLeuLeuLeuGlyAsnLeuTyrValPheIleLeuAlaLeuMetAspGluIleAsnAsnLysIleGluGluGluLysLeuValLysAlaAsnIleThrLeuTrpGluAlaAsnMetIleLysAlaTyrAsnAlaSerPheSerGluAsnSerThrGlyProProPhePheValHisProAlaAspValProArgGlyProCysTrpGluThrMetValGlyGlnGluPheValArgLeuThrValSerAspValLeuThrThrTyrValThrIleLeuIleGlyAspPheLeuArgAlaCysPheValArgPheCysAsnTyrCysTrpCysTrpAspLeuGluTyrGlyTyrProSerTyrThrGluPheAspIleSerGlyAsnValLeuAlaLeuIlePheAsnGlnGlyMetIleTrpMetGlySerPhePheAlaProSerLeuProGlyIleAsnIleLeuArgLeuHisThrSerMetTyrPheGlnCysTrpAlaValMetCysCysAsnValProGluAlaArgValPheLysAlaSerArgSerAsnAsnPheTyrLeuGlyMetLeuLeuLeuIleLeuPheLeuSerThrMetProValLeuTyrMetIleValSerLeuProProSerPheAspCysGlyProPheSerGlyLysAsnArgMetPheGluValIleGlyGluThrLeuGluHisAspPheProSerTrpMetAlaLysIleLeuArgGlnLeuSerAsnProGlyLeuValIleAlaValIleLeuValMetValLeuAlaIleTyrTyrLeuAsnAlaThrAlaLysGlyGlnLysAlaAlaAsnLeuAspLeuLysLysLysMetLysMetGlnAlaLeuGluAsnLysMetArgAsnLysLysMetAlaAlaAlaArgAlaAlaAlaAlaAlaGlyArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567278" }, { "@id": "http://reg.genome.network/allele/PA253003", "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN016513", "geneNCBI_id": 117531, "geneSymbol": "TMC1", "hgvs": [ "NM_138691.3:c.100C>T" ], "proteinEffect": { "hgvs": "NP_619636.2:p.Arg34Ter", "hgvsWellDefined": "NP_619636.2:p.Arg35_Gln760delinsGluSerLeuArgProLysArgLysArgThrArgAspValIleAsnGluAspAspProGluProGluProGluAspGluGluThrArgLysAlaArgGluLysGluArgArgArgArgLeuLysArgGlyAlaGluGluGluGluIleAspGluGluGluLeuGluArgLeuLysAlaGluLeuAspGluLysArgGlnIleIleAlaThrValLysCysLysProTrpLysMetGluLysLysIleGluValLeuLysGluAlaLysLysPheValSerGluAsnGluGlyAlaLeuGlyLysGlyLysGlyLysArgTrpPheAlaPheLysMetMetMetAlaLysLysTrpAlaLysPheLeuArgAspPheGluAsnPheLysAlaAlaCysValProTrpGluAsnLysIleLysAlaIleGluSerGlnPheGlySerSerValAlaSerTyrPheLeuPheLeuArgTrpMetTyrGlyValAsnMetValLeuPheIleLeuThrPheSerLeuIleMetLeuProGluTyrLeuTrpGlyLeuProTyrGlySerLeuProArgLysThrValProArgAlaGluGluAlaSerAlaAlaAsnPheGlyValLeuTyrAspPheAsnGlyLeuAlaGlnTyrSerValLeuPheTyrGlyTyrTyrAspAsnLysArgThrIleGlyTrpMetAsnPheArgLeuProLeuSerTyrPheLeuValGlyIleMetCysIleGlyTyrSerPheLeuValValLeuLysAlaMetThrLysAsnIleGlyAspAspGlyGlyGlyAspAspAsnThrPheAsnPheSerTrpLysValPheThrSerTrpAspTyrLeuIleGlyAsnProGluThrAlaAspAsnLysPheAsnSerIleThrMetAsnPheLysGluAlaIleThrGluGluLysAlaAlaGlnValGluGluAsnValHisLeuIleArgPheLeuArgPheLeuAlaAsnPhePheValPheLeuThrLeuGlyGlySerGlyTyrLeuIlePheTrpAlaValLysArgSerGlnGluPheAlaGlnGlnAspProAspThrLeuGlyTrpTrpGluLysAsnGluMetAsnMetValMetSerLeuLeuGlyMetPheCysProThrLeuPheAspLeuPheAlaGluLeuGluAspTyrHisProLeuIleAlaLeuLysTrpLeuLeuGlyArgIlePheAlaLeuLeuLeuGlyAsnLeuTyrValPheIleLeuAlaLeuMetAspGluIleAsnAsnLysIleGluGluGluLysLeuValLysAlaAsnIleThrLeuTrpGluAlaAsnMetIleLysAlaTyrAsnAlaSerPheSerGluAsnSerThrGlyProProPhePheValHisProAlaAspValProArgGlyProCysTrpGluThrMetValGlyGlnGluPheValArgLeuThrValSerAspValLeuThrThrTyrValThrIleLeuIleGlyAspPheLeuArgAlaCysPheValArgPheCysAsnTyrCysTrpCysTrpAspLeuGluTyrGlyTyrProSerTyrThrGluPheAspIleSerGlyAsnValLeuAlaLeuIlePheAsnGlnGlyMetIleTrpMetGlySerPhePheAlaProSerLeuProGlyIleAsnIleLeuArgLeuHisThrSerMetTyrPheGlnCysTrpAlaValMetCysCysAsnValProGluAlaArgValPheLysAlaSerArgSerAsnAsnPheTyrLeuGlyMetLeuLeuLeuIleLeuPheLeuSerThrMetProValLeuTyrMetIleValSerLeuProProSerPheAspCysGlyProPheSerGlyLysAsnArgMetPheGluValIleGlyGluThrLeuGluHisAspPheProSerTrpMetAlaLysIleLeuArgGlnLeuSerAsnProGlyLeuValIleAlaValIleLeuValMetValLeuAlaIleTyrTyrLeuAsnAlaThrAlaLysGlyGlnLysAlaAlaAsnLeuAspLeuLysLysLysMetLysMetGlnAlaLeuGluAsnLysMetArgAsnLysLysMetAlaAlaAlaArgAlaAlaAlaAlaAlaGlyArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699766", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000297784.10:c.100C>T" }, "RefSeq": { "hgvs": "NM_138691.3:c.100C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000297784.6:p.Arg34Ter" }, "RefSeq": { "hgvs": "NP_619636.2:p.Arg34Ter" } } } } ], "type": "nucleotide" }