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"ENSP00000508237.1:p.Arg41_Met600delinsIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829459" }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684552.1:c.121C>T" ], "proteinEffect": { "hgvs": "ENSP00000506899.1:p.Arg41Ter", "hgvsWellDefined": "ENSP00000506899.1:p.Arg41_Glu374delinsIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829505" }, { "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684611.1:n.262C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829563" }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684622.1:c.121C>T" ], "proteinEffect": { "hgvs": "ENSP00000507546.1:p.Arg41Ter", "hgvsWellDefined": "ENSP00000507546.1:p.Arg41_Met618delinsIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrTrpGlySerTrpAsnLeuSerProValAsnGluArgMetThrValAsnLysGlyGlyLeuArgGlyCysValGluLeuLysHisSerValSerSerThrLeuAspSerGluThrThrGlnLeuAsnThrAlaValProProPheIleMetTyrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829574" }, { "coordinates": [ { "allele": "T", "end": 690, "referenceAllele": "C", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684627.1:c.-63C>T" ], "proteinEffect": { "hgvs": "ENSP00000507471.1:n.-63C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829579" }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684641.1:c.121C>T" ], "proteinEffect": { "hgvs": "ENSP00000507642.1:p.Arg41Ter", "hgvsWellDefined": "ENSP00000507642.1:p.Arg41_Met522delinsIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829592" }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684675.1:c.121C>T" ], "proteinEffect": { "hgvs": "ENSP00000506934.1:p.Arg41Ter", "hgvsWellDefined": "ENSP00000506934.1:p.Arg41_Tyr397delinsIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerGluArgGluArgMetGlnSerLysTrpLeuProPheSerLeuTyrGlnAsnSerProPheLeuValValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829626" }, { "coordinates": [ { "allele": "T", "end": 146, "referenceAllele": "C", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684749.1:n.146C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829699" }, { "coordinates": [ { "allele": "T", "end": 282, "referenceAllele": "C", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000511912.6:c.121C>T" ], "proteinEffect": { "hgvs": "ENSP00000426638.1:p.Arg41Ter", "hgvsWellDefined": "ENSP00000426638.1:p.Arg41_Met617delinsIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758258", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000511912.6:c.121C>T" }, "RefSeq": { "hgvs": "NM_004453.4:c.121C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426638.1:p.Arg41Ter" }, "RefSeq": { "hgvs": "NP_004444.2:p.Arg41Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 152, "endIntronDirection": "-", "endIntronOffset": 1641, "referenceAllele": "C", "start": 152, "startIntronDirection": "-", "startIntronOffset": 1642 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000307738.5:c.35-1642C>T" ], "proteinEffect": { "hgvs": "ENSP00000303552.5:n.35-1642C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS255936" }, { "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000436096.2:n.262C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS293811" }, { "coordinates": [ { "allele": "T", "end": 86, "endIntronDirection": "+", "endIntronOffset": 8063, "referenceAllele": "C", "start": 86, "startIntronDirection": "+", "startIntronOffset": 8062 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000506422.1:n.86+8063C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS337962" }, { "coordinates": [ { "allele": "T", "end": 184, "endIntronDirection": "-", "endIntronOffset": 4038, "referenceAllele": "C", "start": 184, "startIntronDirection": "-", "startIntronOffset": 4039 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000507475.5:c.-90-4039C>T" ], "proteinEffect": { "hgvs": "ENSP00000422735.1:n.-90-4039C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS338754" }, { "coordinates": [ { "allele": "T", "end": 453, "referenceAllele": "C", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000511912.5:c.121C>T" ], "proteinEffect": { "hgvs": "ENSP00000426638.1:p.Arg41Ter", "hgvsWellDefined": "ENSP00000426638.1:p.Arg41_Met617delinsIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342075" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "C", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000512251.5:c.60C>T" ], "proteinEffect": { "hgvs": "ENSP00000425661.1:p.Leu20=" }, "referenceSequence": "http://reg.genome.network/refseq/RS342324" }, { "coordinates": [ { "allele": "T", "end": 390, "endIntronDirection": "-", "endIntronOffset": 1641, "referenceAllele": "C", "start": 390, "startIntronDirection": "-", "startIntronOffset": 1642 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281737.1:c.35-1642C>T" ], "proteinEffect": { "hgvs": "NP_001268666.1:n.35-1642C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS021701" }, { "@id": "http://reg.genome.network/allele/PA891858266", "coordinates": [ { "allele": "T", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.3:c.121C>T" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Arg41Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS029615" }, { "coordinates": [ { "allele": "T", "end": 153, "referenceAllele": "C", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "XM_024453935.1:c.-63C>T" ], "proteinEffect": { "hgvs": "XP_024309703.1:n.-63C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS587307" }, { "@id": "http://reg.genome.network/allele/PA891858266", "coordinates": [ { "allele": "T", "end": 282, "referenceAllele": "C", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.4:c.121C>T" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Arg41Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS696142", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000511912.6:c.121C>T" }, "RefSeq": { "hgvs": "NM_004453.4:c.121C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426638.1:p.Arg41Ter" }, "RefSeq": { "hgvs": "NP_004444.2:p.Arg41Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 195, "endIntronDirection": "-", "endIntronOffset": 1641, "referenceAllele": "C", "start": 195, "startIntronDirection": "-", "startIntronOffset": 1642 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281737.2:c.35-1642C>T" ], "proteinEffect": { "hgvs": "NP_001268666.1:n.35-1642C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS715722" } ], "type": "nucleotide" }