{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16044195", "communityStandardTitle": [ "NM_024876.4(COQ8B):c.101G>A (p.Trp34Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362113[alleleid]", "alleleId": 362113, "preferredName": "NM_024876.4(COQ8B):c.101G>A (p.Trp34Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375334", "RCV": [ "RCV000416411" ], "variationId": 375334 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.41220437C>T?assembly=hg19", "id": "chr19:g.41220437C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.40714532C>T?assembly=hg38", "id": "chr19:g.40714532C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519345", "rs": 1057519345 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-40714532-C-T?dataset=gnomad_r3", "id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS746637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324464.8:c.101G>A" }, "RefSeq": { "hgvs": "NM_024876.4:c.101G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000315118.3:p.Trp34Ter" }, "RefSeq": { "hgvs": "NP_079152.3:p.Trp34Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 193, "referenceAllele": "G", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000593724.2:n.193G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS761323" }, { "coordinates": [ { "allele": "A", "end": 130, "referenceAllele": "G", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000594490.6:c.101G>A" ], "proteinEffect": { "hgvs": "ENSP00000471310.2:p.Trp34Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS761347" }, { "coordinates": [ { "allele": "A", "end": 139, "referenceAllele": "G", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000594720.6:c.101G>A" ], "proteinEffect": { "hgvs": "ENSP00000470876.2:p.Trp34Ter", "hgvsWellDefined": "ENSP00000470876.2:p.Trp34_Ser544delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerGluGlyGlySerGlyLeuAspSerSerProPheLeuSerGluAlaAsnAlaGluArgIleValGlnThrLeuCysThrValArgGlyAlaAlaLeuLysValGlyGlnMetLeuSerIleGlnAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761352" }, { "coordinates": [ { "allele": "A", "end": 250, "referenceAllele": "G", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000596455.6:n.250G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS761404" }, { "coordinates": [ { "allele": "A", "end": 146, "referenceAllele": "G", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000601967.6:c.101G>A" ], "proteinEffect": { "hgvs": "ENSP00000470916.2:p.Trp34Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS761556" }, { "coordinates": [ { "allele": "A", "end": 202, "referenceAllele": "G", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000676555.1:c.101G>A" ], "proteinEffect": { "hgvs": "ENSP00000503387.1:p.Trp34Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS776233" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "G", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000676578.1:c.101G>A" ], "proteinEffect": { "hgvs": "ENSP00000504076.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000504076.1:p.Trp34_Glu106delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnSerLeuThrLeuSerProArgLeuGluCysSerGlyAlaIleThrAlaAlaSerAsnPheTrpAlaGlnAlaIleLeuSerProGlnProProGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776256" }, { "coordinates": [ { "allele": "A", "end": 129, "referenceAllele": "G", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000676651.1:n.129G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776327" }, { "coordinates": [ { "allele": "A", "end": 84, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 84, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000676960.1:n.85-135G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776630" }, { "coordinates": [ { "allele": "A", "end": 237, "referenceAllele": "G", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000676962.1:n.237G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776632" }, { "coordinates": [ { "allele": "A", "end": 242, "referenceAllele": "G", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000677018.1:c.101G>A" ], "proteinEffect": { "hgvs": "ENSP00000503480.1:p.Trp34Ter", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS778765" }, { "coordinates": [ { "allele": "A", "end": 210, "referenceAllele": "G", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000679315.1:c.101G>A" ], "proteinEffect": { "hgvs": "ENSP00000503065.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000503065.1:p.Trp34_Gly81delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnAspTrpLeuTrpAlaTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778949" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000243583.10:c.101G>A" ], "proteinEffect": { "hgvs": "ENSP00000243583.5:p.Trp34Ter", "hgvsWellDefined": "ENSP00000243583.5:p.Trp34_Ser503delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249272" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000324464.7:c.101G>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": 134, "referenceAllele": "G", "start": 50, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000593544.1:n.51-135G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS394249" }, { "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "G", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000594084.5:c.101G>A" ], "proteinEffect": { "hgvs": "ENSP00000473189.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000473189.1:p.Trp34Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS394488" }, { "coordinates": [ { "allele": "A", "end": 104, "referenceAllele": "G", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000594490.5:c.101G>A" ], "proteinEffect": { "hgvs": "ENSP00000471310.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000471310.1:p.Trp34Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS394676" }, { "coordinates": [ { "allele": "A", "end": 139, "referenceAllele": "G", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000594720.5:c.101G>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": 134, "referenceAllele": "G", "start": 29, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": 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"proteinEffect": { "hgvs": "ENSP00000473017.1:n.-225-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS397125" }, { "coordinates": [ { "allele": "A", "end": 131, "referenceAllele": "G", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000600707.5:c.101G>A" ], "proteinEffect": { "hgvs": "ENSP00000472978.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000472978.1:p.Trp34Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS397407" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000601304.5:c.101G>A" ], "proteinEffect": { "hgvs": "ENSP00000472519.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000472519.1:p.Trp34_Ser81delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnThrLeuSerProPheProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS397668" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000601451.5:n.403G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS397738" }, { "coordinates": [ { "allele": "A", "end": 146, "referenceAllele": "G", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "ENST00000601967.5:c.101G>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": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "NM_001142555.2:c.101G>A" ], "proteinEffect": { "hgvs": "NP_001136027.1:p.Trp34Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS012968" }, { "@id": "http://reg.genome.network/allele/PA645464516", "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "NM_024876.3:c.101G>A" ], "proteinEffect": { "hgvs": "NP_079152.3:p.Trp34Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS038087" }, { "coordinates": [ { "allele": "A", "end": 331, "referenceAllele": "G", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_005259270.3:c.263G>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": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_005259271.3:c.101G>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": 201, "referenceAllele": "G", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_005259272.3:c.101G>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": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_005259273.3:c.101G>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": 141, "referenceAllele": "G", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_006723392.2:c.101G>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": 126, "referenceAllele": "G", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_006723393.2:c.101G>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": 201, "referenceAllele": "G", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_011527334.1:c.101G>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": 203, "referenceAllele": "G", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_011527335.1:c.101G>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": 134, "referenceAllele": "G", "start": 147, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_011527336.1:c.133-135G>A" ], "proteinEffect": { "hgvs": "XP_011525638.1:n.133-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS094430" }, { "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_011527337.1:c.101G>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": 138, "referenceAllele": "G", "start": 137 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "XM_011527338.1:c.101G>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": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "NM_024876.4:c.101G>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.101G>A" }, "RefSeq": { "hgvs": "NM_024876.4:c.101G>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": 171, "referenceAllele": "G", "start": 170 } ], "gene": "http://reg.genome.network/gene/GN019041", "geneNCBI_id": 79934, "geneSymbol": "COQ8B", "hgvs": [ "NM_001142555.3:c.101G>A" ], "proteinEffect": { "hgvs": "NP_001136027.1:p.Trp34Ter", "hgvsWellDefined": "NP_001136027.1:p.Trp34_Ser503delinsGlyProCysGlyGlySerTrpAlaGlnLysPheTyrGlnAspGlyProGlyArgGlyLeuGlyGluGluAspIleArgArgAlaArgGluAlaArgProArgLysThrProArgProGlnLeuSerAspArgSerArgGluArgLysValProAlaSerArgIleSerArgLeuAlaAsnPheGlyGlyLeuAlaValGlyLeuGlyLeuGlyValLeuAlaGluMetAlaLysLysSerMetProGlyGlyArgLeuGlnSerAspAsnSerPheIleSerProGlnLeuGlnHisIlePheGluArgValArgGlnSerAlaAspPheMetProArgTrpGlnMetLeuArgValLeuGluGluGluLeuGlyArgAspTrpGlnAlaLysValAlaSerLeuGluGluValProPheAlaAlaAlaSerIleGlyGlnValHisGlnGlyLeuLeuArgAspGlyThrGluValAlaValLysIleGlnTyrProGlyIleAlaGlnSerIleGlnSerAspValGlnAsnLeuLeuAlaValLeuLysMetSerAlaAlaLeuProAlaGlyLeuPheAlaGluGlnSerLeuGlnAlaLeuGlnGlnGluLeuAlaTrpGluCysAspTyrArgArgGluAlaAlaCysAlaGlnAsnPheArgGlnLeuLeuAlaAsnAspProPhePheArgValProAlaValValLysGluLeuCysThrThrArgValLeuGlyMetGluLeuAlaGlyGlyValProLeuAspGlnCysGlnGlyLeuSerGlnAspLeuArgAsnGlnIleCysPheGlnLeuLeuThrLeuCysLeuArgGluLeuPheGluPheArgPheMetGlnThrAspProAsnTrpAlaAsnPheLeuTyrAspAlaSerSerHisGlnValThrLeuLeuAspPheGlyAlaSerArgGluPheGlyThrGluPheThrAspHisTyrIleGluValValLysAlaAlaAlaAspGlyAspArgAspCysValLeuGlnLysSerArgAspLeuLysPheLeuThrGlyPheGluThrLysAlaPheSerAspAlaHisValGluAlaValMetIleLeuGlyGluProPheAlaThrGlnGlyProTyrAspPheGlySerGlyGluThrAlaArgArgIleGlnAspLeuIleProValLeuLeuArgHisArgLeuCysProProProGluGluThrTyrAlaLeuHisArgLysLeuAlaGlyAlaPheLeuAlaCysAlaHisLeuArgAlaHisIleAlaCysArgAspLeuPheGlnAspThrTyrHisArgTyrTrpAlaSerArgGlnProAspAlaAlaThrAlaGlySerLeuProThrLysGlyAspSerTrpValAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677567" } ], "type": "nucleotide" }