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1178 } ], "gene": "http://reg.genome.network/gene/GN016812", "geneNCBI_id": 56997, "geneSymbol": "COQ8A", "hgvs": [ "XM_011544241.2:c.1136T>A" ], "proteinEffect": { "hgvs": "XP_011542543.1:p.Leu379Ter", "hgvsWellDefined": "XP_011542543.1:p.Leu379_Gln647delinsAsnMetSerAsnMetLeuProGluGlyLeuPheProGluHisLeuIleAspValLeuArgArgGluLeuAlaLeuGluCysAspTyrGlnArgGluAlaAlaCysAlaArgLysPheArgAspLeuLeuLysGlyHisProPhePheTyrValProGluIleValAspGluLeuCysSerProHisValLeuThrThrGluLeuValSerGlyPheProLeuAspGlnAlaGluGlyLeuSerGlnGluIleArgAsnGluIleCysTyrAsnIleLeuValLeuCysLeuArgGluLeuPheGluPheHisPheMetGlnThrAspProAsnTrpSerAsnPhePheTyrAspProGlnGlnHisLysValAlaLeuLeuAspPheGlyAlaThrArgGluTyrAspArgSerPheThrAspLeuTyrIleGlnIleIleArgAlaAlaAlaAspArgAspArgGluThrValArgAlaLysSerIleGluMetLysPheLeuThrGlyTyrGluValLysValMetGluAspAlaHisLeuAspAlaIleLeuIleLeuGlyGluAlaPheAlaSerAspGluProPheAspPheGlyThrGlnSerThrThrGluLysIleHisAsnLeuIleProValMetLeuArgHisArgLeuValProProProGluGluThrTyrSerLeuHisArgLysMetGlyGlySerPheLeuIleCysSerLysLeuLysAlaArgPheProCysLysAlaMetPheGluGluAlaTyrSerAsnTyrCysLysArgGlnAlaGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555568" }, { "coordinates": [ { "allele": "A", "end": 1398, "referenceAllele": "T", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN016812", "geneNCBI_id": 56997, "geneSymbol": "COQ8A", "hgvs": [ "XM_017001852.1:c.1136T>A" ], "proteinEffect": { "hgvs": "XP_016857341.1:p.Leu379Ter", "hgvsWellDefined": "XP_016857341.1:p.Leu379_Gln647delinsAsnMetSerAsnMetLeuProGluGlyLeuPheProGluHisLeuIleAspValLeuArgArgGluLeuAlaLeuGluCysAspTyrGlnArgGluAlaAlaCysAlaArgLysPheArgAspLeuLeuLysGlyHisProPhePheTyrValProGluIleValAspGluLeuCysSerProHisValLeuThrThrGluLeuValSerGlyPheProLeuAspGlnAlaGluGlyLeuSerGlnGluIleArgAsnGluIleCysTyrAsnIleLeuValLeuCysLeuArgGluLeuPheGluPheHisPheMetGlnThrAspProAsnTrpSerAsnPhePheTyrAspProGlnGlnHisLysValAlaLeuLeuAspPheGlyAlaThrArgGluTyrAspArgSerPheThrAspLeuTyrIleGlnIleIleArgAlaAlaAlaAspArgAspArgGluThrValArgAlaLysSerIleGluMetLysPheLeuThrGlyTyrGluValLysValMetGluAspAlaHisLeuAspAlaIleLeuIleLeuGlyGluAlaPheAlaSerAspGluProPheAspPheGlyThrGlnSerThrThrGluLysIleHisAsnLeuIleProValMetLeuArgHisArgLeuValProProProGluGluThrTyrSerLeuHisArgLysMetGlyGlySerPheLeuIleCysSerLysLeuLysAlaArgPheProCysLysAlaMetPheGluGluAlaTyrSerAsnTyrCysLysArgGlnAlaGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557917" }, { "coordinates": [ { "allele": "A", "end": 1350, "referenceAllele": "T", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN016812", "geneNCBI_id": 56997, "geneSymbol": "COQ8A", "hgvs": [ "XM_024448517.1:c.1136T>A" ], "proteinEffect": { "hgvs": "XP_024304285.1:p.Leu379Ter", "hgvsWellDefined": "XP_024304285.1:p.Leu379_Gln647delinsAsnMetSerAsnMetLeuProGluGlyLeuPheProGluHisLeuIleAspValLeuArgArgGluLeuAlaLeuGluCysAspTyrGlnArgGluAlaAlaCysAlaArgLysPheArgAspLeuLeuLysGlyHisProPhePheTyrValProGluIleValAspGluLeuCysSerProHisValLeuThrThrGluLeuValSerGlyPheProLeuAspGlnAlaGluGlyLeuSerGlnGluIleArgAsnGluIleCysTyrAsnIleLeuValLeuCysLeuArgGluLeuPheGluPheHisPheMetGlnThrAspProAsnTrpSerAsnPhePheTyrAspProGlnGlnHisLysValAlaLeuLeuAspPheGlyAlaThrArgGluTyrAspArgSerPheThrAspLeuTyrIleGlnIleIleArgAlaAlaAlaAspArgAspArgGluThrValArgAlaLysSerIleGluMetLysPheLeuThrGlyTyrGluValLysValMetGluAspAlaHisLeuAspAlaIleLeuIleLeuGlyGluAlaPheAlaSerAspGluProPheAspPheGlyThrGlnSerThrThrGluLysIleHisAsnLeuIleProValMetLeuArgHisArgLeuValProProProGluGluThrTyrSerLeuHisArgLysMetGlyGlySerPheLeuIleCysSerLysLeuLysAlaArgPheProCysLysAlaMetPheGluGluAlaTyrSerAsnTyrCysLysArgGlnAlaGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582088" }, { "coordinates": [ { "allele": "A", "end": 1322, "referenceAllele": "T", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN016812", "geneNCBI_id": 56997, "geneSymbol": "COQ8A", "hgvs": [ "XM_024448518.1:c.1136T>A" ], "proteinEffect": { "hgvs": "XP_024304286.1:p.Leu379Ter", "hgvsWellDefined": "XP_024304286.1:p.Leu379_Gln647delinsAsnMetSerAsnMetLeuProGluGlyLeuPheProGluHisLeuIleAspValLeuArgArgGluLeuAlaLeuGluCysAspTyrGlnArgGluAlaAlaCysAlaArgLysPheArgAspLeuLeuLysGlyHisProPhePheTyrValProGluIleValAspGluLeuCysSerProHisValLeuThrThrGluLeuValSerGlyPheProLeuAspGlnAlaGluGlyLeuSerGlnGluIleArgAsnGluIleCysTyrAsnIleLeuValLeuCysLeuArgGluLeuPheGluPheHisPheMetGlnThrAspProAsnTrpSerAsnPhePheTyrAspProGlnGlnHisLysValAlaLeuLeuAspPheGlyAlaThrArgGluTyrAspArgSerPheThrAspLeuTyrIleGlnIleIleArgAlaAlaAlaAspArgAspArgGluThrValArgAlaLysSerIleGluMetLysPheLeuThrGlyTyrGluValLysValMetGluAspAlaHisLeuAspAlaIleLeuIleLeuGlyGluAlaPheAlaSerAspGluProPheAspPheGlyThrGlnSerThrThrGluLysIleHisAsnLeuIleProValMetLeuArgHisArgLeuValProProProGluGluThrTyrSerLeuHisArgLysMetGlyGlySerPheLeuIleCysSerLysLeuLysAlaArgPheProCysLysAlaMetPheGluGluAlaTyrSerAsnTyrCysLysArgGlnAlaGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582089" }, { "@id": "http://reg.genome.network/allele/PA645496059", "coordinates": [ { "allele": "A", "end": 1251, "referenceAllele": "T", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN016812", "geneNCBI_id": 56997, "geneSymbol": "COQ8A", "hgvs": [ "NM_020247.5:c.1136T>A" ], "proteinEffect": { "hgvs": "NP_064632.2:p.Leu379Ter", "hgvsWellDefined": "NP_064632.2:p.Leu379_Gln647delinsAsnMetSerAsnMetLeuProGluGlyLeuPheProGluHisLeuIleAspValLeuArgArgGluLeuAlaLeuGluCysAspTyrGlnArgGluAlaAlaCysAlaArgLysPheArgAspLeuLeuLysGlyHisProPhePheTyrValProGluIleValAspGluLeuCysSerProHisValLeuThrThrGluLeuValSerGlyPheProLeuAspGlnAlaGluGlyLeuSerGlnGluIleArgAsnGluIleCysTyrAsnIleLeuValLeuCysLeuArgGluLeuPheGluPheHisPheMetGlnThrAspProAsnTrpSerAsnPhePheTyrAspProGlnGlnHisLysValAlaLeuLeuAspPheGlyAlaThrArgGluTyrAspArgSerPheThrAspLeuTyrIleGlnIleIleArgAlaAlaAlaAspArgAspArgGluThrValArgAlaLysSerIleGluMetLysPheLeuThrGlyTyrGluValLysValMetGluAspAlaHisLeuAspAlaIleLeuIleLeuGlyGluAlaPheAlaSerAspGluProPheAspPheGlyThrGlnSerThrThrGluLysIleHisAsnLeuIleProValMetLeuArgHisArgLeuValProProProGluGluThrTyrSerLeuHisArgLysMetGlyGlySerPheLeuIleCysSerLysLeuLysAlaArgPheProCysLysAlaMetPheGluGluAlaTyrSerAsnTyrCysLysArgGlnAlaGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669946", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366777.4:c.1136T>A" }, "RefSeq": { "hgvs": "NM_020247.5:c.1136T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355739.3:p.Leu379Ter" }, "RefSeq": { "hgvs": "NP_064632.2:p.Leu379Ter" } } } } ], "type": "nucleotide" }