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"geneSymbol": "ETFDH", "hgvs": [ "ENST00000684296.1:c.545G>A" ], "proteinEffect": { "hgvs": "ENSP00000507740.1:p.Trp182Ter", "hgvsWellDefined": "ENSP00000507740.1:p.Trp182_Glu374delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829252" }, { "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684505.1:c.494G>A" ], "proteinEffect": { "hgvs": "ENSP00000508237.1:p.Trp165Ter", "hgvsWellDefined": "ENSP00000508237.1:p.Trp165_Met600delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829459" }, { "coordinates": [ { "allele": "A", "end": 736, "referenceAllele": "G", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684552.1:c.545G>A" ], "proteinEffect": { "hgvs": "ENSP00000506899.1:p.Trp182Ter", "hgvsWellDefined": "ENSP00000506899.1:p.Trp182_Glu374delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829505" }, { "coordinates": [ { "allele": "A", "end": 2273, "referenceAllele": "G", "start": 2272 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684611.1:n.2273G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829563" }, { "coordinates": [ { "allele": "A", "end": 736, "referenceAllele": "G", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684622.1:c.545G>A" ], "proteinEffect": { "hgvs": "ENSP00000507546.1:p.Trp182Ter", "hgvsWellDefined": "ENSP00000507546.1:p.Trp182_Met618delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrTrpGlySerTrpAsnLeuSerProValAsnGluArgMetThrValAsnLysGlyGlyLeuArgGlyCysValGluLeuLysHisSerValSerSerThrLeuAspSerGluThrThrGlnLeuAsnThrAlaValProProPheIleMetTyrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829574" }, { "coordinates": [ { "allele": "A", "end": 1114, "referenceAllele": "G", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684627.1:c.362G>A" ], "proteinEffect": { "hgvs": "ENSP00000507471.1:p.Trp121Ter", "hgvsWellDefined": "ENSP00000507471.1:p.Trp121_Met556delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829579" }, { "coordinates": [ { "allele": "A", "end": 736, "referenceAllele": "G", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684641.1:c.545G>A" ], "proteinEffect": { "hgvs": "ENSP00000507642.1:p.Trp182Ter", "hgvsWellDefined": "ENSP00000507642.1:p.Trp182_Met522delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829592" }, { "coordinates": [ { "allele": "A", "end": 736, "referenceAllele": "G", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684675.1:c.545G>A" ], "proteinEffect": { "hgvs": "ENSP00000506934.1:p.Trp182Ter", "hgvsWellDefined": "ENSP00000506934.1:p.Trp182_Tyr397delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerGluArgGluArgMetGlnSerLysTrpLeuProPheSerLeuTyrGlnAsnSerProPheLeuValValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829626" }, { "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684749.1:n.614G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829699" }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000511912.6:c.545G>A" ], "proteinEffect": { "hgvs": "ENSP00000426638.1:p.Trp182Ter", "hgvsWellDefined": "ENSP00000426638.1:p.Trp182_Met617delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758258", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000511912.6:c.545G>A" }, "RefSeq": { "hgvs": "NM_004453.4:c.545G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426638.1:p.Trp182Ter" }, "RefSeq": { "hgvs": "NP_004444.2:p.Trp182Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 522, "referenceAllele": "G", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000307738.5:c.404G>A" ], "proteinEffect": { "hgvs": "ENSP00000303552.5:p.Trp135Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS255936" }, { "coordinates": [ { "allele": "A", "end": 86, "endIntronDirection": "+", "endIntronOffset": 12668, "referenceAllele": "G", "start": 86, "startIntronDirection": "+", "startIntronOffset": 12667 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000506422.1:n.86+12668G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS337962" }, { "coordinates": [ { "allele": "A", "end": 324, "referenceAllele": "G", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000507475.5:c.50G>A" ], "proteinEffect": { "hgvs": "ENSP00000422735.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000422735.1:p.Trp17Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS338754" }, { "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "G", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000511912.5:c.545G>A" ], "proteinEffect": { "hgvs": "ENSP00000426638.1:p.Trp182Ter", "hgvsWellDefined": "ENSP00000426638.1:p.Trp182_Met617delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342075" }, { "@id": "http://reg.genome.network/allele/PA2826593264", "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "G", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281737.1:c.404G>A" ], "proteinEffect": { "hgvs": "NP_001268666.1:p.Trp135Ter", "hgvsWellDefined": "NP_001268666.1:p.Trp135_Met570delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021701" }, { "@id": "http://reg.genome.network/allele/PA2826594387", "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281738.1:c.362G>A" ], "proteinEffect": { "hgvs": "NP_001268667.1:p.Trp121Ter", "hgvsWellDefined": "NP_001268667.1:p.Trp121_Met556delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021702" }, { "@id": "http://reg.genome.network/allele/PA913193940", "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.3:c.545G>A" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Trp182Ter", "hgvsWellDefined": "NP_004444.2:p.Trp182_Met617delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029615" }, { "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "G", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "XM_024453935.1:c.362G>A" ], "proteinEffect": { "hgvs": "XP_024309703.1:p.Trp121Ter", "hgvsWellDefined": "XP_024309703.1:p.Trp121_Met556delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587307" }, { "@id": "http://reg.genome.network/allele/PA913193940", "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.4:c.545G>A" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Trp182Ter", "hgvsWellDefined": "NP_004444.2:p.Trp182_Met617delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696142", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000511912.6:c.545G>A" }, "RefSeq": { "hgvs": "NM_004453.4:c.545G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426638.1:p.Trp182Ter" }, "RefSeq": { "hgvs": "NP_004444.2:p.Trp182Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826593264", "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "G", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281737.2:c.404G>A" ], "proteinEffect": { "hgvs": "NP_001268666.1:p.Trp135Ter", "hgvsWellDefined": "NP_001268666.1:p.Trp135_Met570delinsMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715722" } ], "type": "nucleotide" }