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"NP_001073279.1:p.Gln145_Val647delinsAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010094" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.2:c.433C>T" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Gln145Ter", "hgvsWellDefined": "NP_001073279.1:p.Gln145_Val647delinsAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010095" }, { "@id": "http://reg.genome.network/allele/PA658832525", "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "C", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.1:c.311C>T" ], "proteinEffect": { "hgvs": "NP_001129074.1:p.Ser104Leu", "hgvsWellDefined": "NP_001129074.1:p.Ser104Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012431" }, { "@id": "http://reg.genome.network/allele/PA658832525", "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.2:c.311C>T" ], "proteinEffect": { "hgvs": "NP_001129074.1:p.Ser104Leu", "hgvsWellDefined": "NP_001129074.1:p.Ser104Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012432" }, { "coordinates": [ { "allele": "T", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.1:c.667C>T" ], "proteinEffect": { "hgvs": "NP_001303969.1:p.Gln223Ter", "hgvsWellDefined": "NP_001303969.1:p.Gln223_Val725delinsAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026699" }, { "@id": "http://reg.genome.network/allele/PA2825162279", "coordinates": [ { "allele": "T", "end": 584, "referenceAllele": "C", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.4:c.523C>T" ], "proteinEffect": { "hgvs": "NP_000395.3:p.Gln175Ter", "hgvsWellDefined": "NP_000395.3:p.Gln175_Val677delinsAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000307363.10:c.523C>T" }, "RefSeq": { "hgvs": "NM_000404.4:c.523C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306920.4:p.Gln175Ter" }, "RefSeq": { "hgvs": "NP_000395.3:p.Gln175Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825444575", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.3:c.433C>T" ], "proteinEffect": { "hgvs": "NP_001073279.2:p.Gln145Ter", "hgvsWellDefined": "NP_001073279.2:p.Gln145_Val647delinsAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711783" }, { "@id": "http://reg.genome.network/allele/PA2573065871", "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "C", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.3:c.311C>T" ], "proteinEffect": { "hgvs": "NP_001129074.2:p.Ser104Leu", "hgvsWellDefined": "NP_001129074.2:p.Ser104Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS712445" }, { "@id": "http://reg.genome.network/allele/PA2826964711", "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.2:c.667C>T" ], "proteinEffect": { "hgvs": "NP_001303969.2:p.Gln223Ter", "hgvsWellDefined": "NP_001303969.2:p.Gln223_Val725delinsAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717394" }, { "@id": "http://reg.genome.network/allele/PA2829205894", "coordinates": [ { "allele": "T", "end": 584, "referenceAllele": "C", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001393580.1:c.523C>T" ], "proteinEffect": { "hgvs": "NP_001380509.1:p.Gln175Ter", "hgvsWellDefined": "NP_001380509.1:p.Gln175_Gly588delinsAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysAspGluGlyAspGlySerSerPheProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726736" } ], "type": "nucleotide" }