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}, "referenceSequence": "http://reg.genome.network/refseq/RS006465" }, { "coordinates": [ { "allele": "A", "end": 1096, "referenceAllele": "G", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.3:c.951G>A" ], "proteinEffect": { "hgvs": "NP_000395.2:p.Trp317Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006466" }, { "coordinates": [ { "allele": "A", "end": 980, "referenceAllele": "G", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.1:c.861G>A" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Trp287Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS010094" }, { "coordinates": [ { "allele": "A", "end": 990, "referenceAllele": "G", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.2:c.861G>A" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Trp287Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS010095" }, { "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "G", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.1:c.558G>A" ], "proteinEffect": { "hgvs": "NP_001129074.1:p.Trp186Ter", "hgvsWellDefined": "NP_001129074.1:p.Trp186_Val546delinsAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012431" }, { "coordinates": [ { "allele": "A", "end": 703, "referenceAllele": "G", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.2:c.558G>A" ], "proteinEffect": { "hgvs": "NP_001129074.1:p.Trp186Ter", "hgvsWellDefined": "NP_001129074.1:p.Trp186_Val546delinsAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012432" }, { "@id": "http://reg.genome.network/allele/PA916021892", "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "G", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.1:c.1095G>A" ], "proteinEffect": { "hgvs": "NP_001303969.1:p.Trp365Ter", "hgvsWellDefined": "NP_001303969.1:p.Trp365_Val725delinsAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026699" }, { "@id": "http://reg.genome.network/allele/PA2825162495", "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "G", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.4:c.951G>A" ], "proteinEffect": { "hgvs": "NP_000395.3:p.Trp317Ter", "hgvsWellDefined": "NP_000395.3:p.Trp317_Val677delinsAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000307363.10:c.951G>A" }, "RefSeq": { "hgvs": "NM_000404.4:c.951G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306920.4:p.Trp317Ter" }, "RefSeq": { "hgvs": "NP_000395.3:p.Trp317Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825444842", "coordinates": [ { "allele": "A", "end": 980, "referenceAllele": "G", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.3:c.861G>A" ], "proteinEffect": { "hgvs": "NP_001073279.2:p.Trp287Ter", "hgvsWellDefined": "NP_001073279.2:p.Trp287_Val647delinsAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711783" }, { "@id": "http://reg.genome.network/allele/PA2825794163", "coordinates": [ { "allele": "A", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.3:c.558G>A" ], "proteinEffect": { "hgvs": "NP_001129074.2:p.Trp186Ter", "hgvsWellDefined": "NP_001129074.2:p.Trp186_Val546delinsAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712445" }, { "@id": "http://reg.genome.network/allele/PA2573070132", "coordinates": [ { "allele": "A", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.2:c.1095G>A" ], "proteinEffect": { "hgvs": "NP_001303969.2:p.Trp365Ter", "hgvsWellDefined": "NP_001303969.2:p.Trp365_Val725delinsAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717394" }, { "@id": "http://reg.genome.network/allele/PA2829206011", "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "G", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001393580.1:c.951G>A" ], "proteinEffect": { "hgvs": "NP_001380509.1:p.Trp317Ter", "hgvsWellDefined": "NP_001380509.1:p.Trp317_Gly588delinsAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysAspGluGlyAspGlySerSerPheProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726736" } ], "type": "nucleotide" }