{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA405968481", "communityStandardTitle": [ "NM_024876.4(COQ8B):c.102G>A (p.Trp34Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.41220436C>T?assembly=hg19", "id": "chr19:g.41220436C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40714531C>T?assembly=hg38", "id": "chr19:g.40714531C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2515515787", "rs": 2515515787 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40714531-C-T?dataset=gnomad_r4", "id": "19-40714531-C-T", "variant": "19:40714531 C / T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 40714531, "referenceAllele": "C", "start": 40714530 } ], "hgvs": [ "NC_000019.10:g.40714531C>T", "CM000681.2:g.40714531C>T" ], "referenceGenome": "GRCh38", "referenceSequence": 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"transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000324464.8:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000315118.3:p.Trp34Ter", "hgvsWellDefined": "ENSP00000315118.3:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324464.8:c.102G>A" }, "RefSeq": { "hgvs": "NM_024876.4:c.102G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000315118.3:p.Trp34Ter" }, "RefSeq": { "hgvs": "NP_079152.3:p.Trp34Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 194, "referenceAllele": "G", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000593724.2:n.194G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS761323" }, { "coordinates": [ { "allele": "A", "end": 131, "referenceAllele": "G", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000594490.6:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000471310.2:p.Trp34Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS761347" }, { "coordinates": [ { "allele": "A", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000594720.6:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000470876.2:p.Trp34Ter", "hgvsWellDefined": "ENSP00000470876.2:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761352" }, { "coordinates": [ { "allele": "A", "end": 251, "referenceAllele": "G", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000596455.6:n.251G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS761404" }, { "coordinates": [ { "allele": "A", "end": 147, "referenceAllele": "G", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000601967.6:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000470916.2:p.Trp34Ter", "hgvsWellDefined": "ENSP00000470916.2:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761556" }, { "coordinates": [ { "allele": "A", "end": 203, "referenceAllele": "G", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000676555.1:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000503387.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000503387.1:p.Trp34_Gln393delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnThrGluSerHisSerValAlaGlnAlaGlyValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776233" }, { "coordinates": [ { "allele": "A", "end": 180, "referenceAllele": "G", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000676578.1:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000504076.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000504076.1:p.Trp34_Glu106delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnSerLeuThrLeuSerProArgLeuGluCysSerGlyAlaIleThrAlaAlaSerAsnPheTrpAlaGlnAlaIleLeuSerProGlnProProGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776256" }, { "coordinates": [ { "allele": "A", "end": 130, "referenceAllele": "G", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000676651.1:n.130G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776327" }, { "coordinates": [ { "allele": "A", "end": 84, "endIntronDirection": "-", "endIntronOffset": 133, "referenceAllele": "G", "start": 84, "startIntronDirection": "-", "startIntronOffset": 134 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000676960.1:n.85-134G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776630" }, { "coordinates": [ { "allele": "A", "end": 238, "referenceAllele": "G", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000676962.1:n.238G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776632" }, { "coordinates": [ { "allele": "A", "end": 243, "referenceAllele": "G", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000677018.1:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000503480.1:p.Trp34Ter", 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"ENSP00000503794.1:p.Trp34_Pro142delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGlySerCysCysValThrGlnAlaGlyMetGlnTrpTyrAspHisGlySerLeuGlnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777452" }, { "coordinates": [ { "allele": "A", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000678057.1:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000503762.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000503762.1:p.Trp34_Gly81delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnAspTrpLeuTrpAlaTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777707" }, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS778050" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000678419.1:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000504085.1:p.Trp34Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS778065" }, { "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000678433.1:n.319G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778079" }, { "coordinates": [ { "allele": "A", "end": 219, "referenceAllele": "G", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000678467.1:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000504072.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000504072.1:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778112" }, { "coordinates": [ { "allele": "A", "end": 203, "referenceAllele": "G", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000678569.1:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000504261.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000504261.1:p.Trp34_Ala336delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheSerCysTrpGlnMetThrProSerSerGlySerGlnProTrpLeuArgSerCysAlaArgHisGlyCysTrpAlaTrpSerTrpLeuGluGlySerProTrpThrSerAlaArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778210" }, { "coordinates": [ { "allele": "A", "end": 142, "referenceAllele": "G", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000678961.1:n.142G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778597" }, { "coordinates": [ { "allele": "A", "end": 138, "referenceAllele": "G", "start": 137 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000679002.1:n.138G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778637" }, { "coordinates": [ { "allele": "A", "end": 251, "referenceAllele": "G", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000679012.1:c.-311G>A" ], "proteinEffect": { "hgvs": "ENSP00000504446.1:n.-311G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778647" }, { 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"ENSP00000504845.1:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778765" }, { "coordinates": [ { "allele": "A", "end": 211, "referenceAllele": "G", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000679315.1:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000503065.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000503065.1:p.Trp34_Gly81delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnAspTrpLeuTrpAlaTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778949" }, { "coordinates": [ { "allele": "A", "end": 126, "referenceAllele": "G", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000243583.10:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000243583.5:p.Trp34Ter", "hgvsWellDefined": "ENSP00000243583.5:p.Trp34_Ser503delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249272" }, { "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000324464.7:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000315118.3:p.Trp34Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS258355" }, { "coordinates": [ { "allele": "A", "end": 50, "endIntronDirection": "-", "endIntronOffset": 133, "referenceAllele": "G", "start": 50, "startIntronDirection": "-", "startIntronOffset": 134 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000593544.1:n.51-134G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS394249" }, { "coordinates": [ { "allele": "A", "end": 223, "referenceAllele": "G", "start": 222 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000594084.5:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000473189.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000473189.1:p.Trp34Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS394488" }, { "coordinates": [ { "allele": "A", "end": 105, "referenceAllele": "G", "start": 104 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000594490.5:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000471310.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000471310.1:p.Trp34Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS394676" }, { "coordinates": [ { "allele": "A", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000594720.5:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000470876.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000470876.1:p.Trp34Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS394771" }, { "coordinates": [ { "allele": "A", "end": 29, "endIntronDirection": "-", "endIntronOffset": 133, "referenceAllele": "G", "start": 29, "startIntronDirection": "-", "startIntronOffset": 134 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000595254.5:c.-225-134G>A" ], "proteinEffect": { "hgvs": "ENSP00000470894.1:n.-225-134G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS394998" }, { "coordinates": [ { "allele": "A", "end": 144, "referenceAllele": "G", "start": 143 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000596357.1:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000472925.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000472925.1:p.Trp34Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS395492" }, { "coordinates": [ { "allele": "A", "end": 79, "endIntronDirection": "-", "endIntronOffset": 133, "referenceAllele": "G", "start": 79, "startIntronDirection": "-", "startIntronOffset": 134 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000596455.5:n.80-134G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS395534" }, { "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "G", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000599643.5:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000471192.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000471192.1:p.Trp34_Ala115delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysThrThrAlaSerSerAlaLeuSerCysSerThrSerLeuSerGlySerAlaArgAlaProThrSerCysProAlaGlyArgCysCysThrProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS396921" }, { "coordinates": [ { "allele": "A", "end": 28, "endIntronDirection": "-", "endIntronOffset": 133, "referenceAllele": "G", "start": 28, "startIntronDirection": "-", "startIntronOffset": 134 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000600080.5:c.-225-134G>A" ], "proteinEffect": { "hgvs": "ENSP00000473017.1:n.-225-134G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS397125" }, { "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000600707.5:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000472978.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000472978.1:p.Trp34Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS397407" }, { "coordinates": [ { "allele": "A", "end": 255, "referenceAllele": "G", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000601304.5:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000472519.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000472519.1:p.Trp34_Ser81delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnThrLeuSerProPheProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS397668" }, { "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000601451.5:n.404G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS397738" }, { "coordinates": [ { "allele": "A", "end": 147, "referenceAllele": "G", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000601967.5:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000470916.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000470916.1:p.Trp34_Asp230del" }, "referenceSequence": "http://reg.genome.network/refseq/RS397961" }, { "@id": "http://reg.genome.network/allele/PA2825799037", "coordinates": [ { "allele": "A", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "NM_001142555.2:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001136027.1:p.Trp34Ter", "hgvsWellDefined": "NP_001136027.1:p.Trp34_Ser503delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012968" }, { "@id": "http://reg.genome.network/allele/PA645464516", "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "NM_024876.3:c.102G>A" ], "proteinEffect": { "hgvs": "NP_079152.3:p.Trp34Ter", "hgvsWellDefined": "NP_079152.3:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038087" }, { "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "G", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_005259270.3:c.264G>A" ], "proteinEffect": { "hgvs": "XP_005259327.2:p.Trp88Ter", "hgvsWellDefined": "XP_005259327.2:p.Trp88_Ser598delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062363" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_005259271.3:c.102G>A" ], "proteinEffect": { "hgvs": "XP_005259328.1:p.Trp34Ter", "hgvsWellDefined": "XP_005259328.1:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062364" }, { "coordinates": [ { "allele": "A", "end": 202, "referenceAllele": "G", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_005259272.3:c.102G>A" ], "proteinEffect": { "hgvs": "XP_005259329.1:p.Trp34Ter", "hgvsWellDefined": "XP_005259329.1:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062365" }, { "coordinates": [ { "allele": "A", "end": 187, "referenceAllele": "G", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_005259273.3:c.102G>A" ], "proteinEffect": { "hgvs": "XP_005259330.1:p.Trp34Ter", "hgvsWellDefined": "XP_005259330.1:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062366" }, { "coordinates": [ { "allele": "A", "end": 142, "referenceAllele": "G", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_006723392.2:c.102G>A" ], "proteinEffect": { "hgvs": "XP_006723455.1:p.Trp34Ter", "hgvsWellDefined": "XP_006723455.1:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075032" }, { "coordinates": [ { "allele": "A", "end": 127, "referenceAllele": "G", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_006723393.2:c.102G>A" ], "proteinEffect": { "hgvs": "XP_006723456.1:p.Trp34Ter", "hgvsWellDefined": "XP_006723456.1:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075033" }, { "coordinates": [ { "allele": "A", "end": 202, "referenceAllele": "G", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_011527334.1:c.102G>A" ], "proteinEffect": { "hgvs": "XP_011525636.1:p.Trp34Ter", "hgvsWellDefined": "XP_011525636.1:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094428" }, { "coordinates": [ { "allele": "A", "end": 204, "referenceAllele": "G", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_011527335.1:c.102G>A" ], "proteinEffect": { "hgvs": "XP_011525637.1:p.Trp34Ter", "hgvsWellDefined": "XP_011525637.1:p.Trp34_Ser497delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094429" }, { "coordinates": [ { "allele": "A", "end": 147, "endIntronDirection": "-", "endIntronOffset": 133, "referenceAllele": "G", "start": 147, "startIntronDirection": "-", "startIntronOffset": 134 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_011527336.1:c.133-134G>A" ], "proteinEffect": { "hgvs": "XP_011525638.1:n.133-134G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS094430" }, { "coordinates": [ { "allele": "A", "end": 298, "referenceAllele": "G", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_011527337.1:c.102G>A" ], "proteinEffect": { "hgvs": "XP_011525639.1:p.Trp34Ter", "hgvsWellDefined": "XP_011525639.1:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094431" }, { "coordinates": [ { "allele": "A", "end": 139, "referenceAllele": "G", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_011527338.1:c.102G>A" ], "proteinEffect": { "hgvs": "XP_011525640.1:p.Trp34Ter", "hgvsWellDefined": "XP_011525640.1:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094432" }, { "@id": "http://reg.genome.network/allele/PA645464516", "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "NM_024876.4:c.102G>A" ], "proteinEffect": { "hgvs": "NP_079152.3:p.Trp34Ter", "hgvsWellDefined": "NP_079152.3:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670833", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324464.8:c.102G>A" }, "RefSeq": { "hgvs": "NM_024876.4:c.102G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000315118.3:p.Trp34Ter" }, "RefSeq": { "hgvs": "NP_079152.3:p.Trp34Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825799037", "coordinates": [ { "allele": "A", "end": 172, "referenceAllele": "G", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "NM_001142555.3:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001136027.1:p.Trp34Ter", "hgvsWellDefined": "NP_001136027.1:p.Trp34_Ser503delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677567" } ], "type": "nucleotide" }