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}, "referenceSequence": "http://reg.genome.network/refseq/RS773114" }, { "coordinates": [ { "allele": "T", "end": 1897, "referenceAllele": "C", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "ENST00000362065.8:c.1606C>T" ], "proteinEffect": { "hgvs": "ENSP00000354497.4:p.Arg536Ter", "hgvsWellDefined": "ENSP00000354497.4:p.Arg536_Ser1017delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgTyrAlaAlaAlaThrHisMetLeuSerAspIleSerSerAlaMetAlaAsnGlyAsnTrpGluGluAlaLysGluLeuAlaGlnCysAlaLysArgAspTrpAsnArgLeuLysAsnHisProSerLeuArgCysHisGluAspLeuProLeuPheLeuArgCysPheThrValGlyTrpIleTyrThrArgIleLeuSerArgPheValGluIleLeuGlnArgLeuHisMetTyrGluGluAlaValArgGluLeuGluSerLeuLeuSerGlnArgIleTyrCysProAspSerArgGlyArgTrpTrpAspArgLeuAlaLeuAsnLeuHisGlnHisLeuLysArgLeuGluProThrIleLysCysIleThrGluGlyLeuAlaAspProGluValArgThrGlyHisArgLeuSerLeuTyrGlnArgAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyIleHisGlyGluGlySerThrPheSerThrLeuTyrGlyLeuLeuLeuTrpAspIleIlePheMetAspGlyIleProAspValPheArgAsnAlaCysGlnAlaPheProLeuAspLeuCysThrAspSerPhePheThrSerArgArgProAlaLeuGluAlaArgLeuGlnLeuIleHisAspAlaProGluGluSerLeuArgAlaTrpValAlaAlaThrTrpHisGluGlnGluGlyArgValAlaSerLeuValSerTrpAspArgPheThrSerLeuGlnGlnAlaGlnAspLeuValSerCysLeuGlyGlyProValLeuSerGlyValCysArgHisLeuAlaAlaAspPheArgHisCysArgGlyGlyLeuProAspLeuValValTrpAsnSerGlnSerArgHisPheLysLeuValGluValLysGlyProAsnAspArgLeuSerHisLysGlnMetIleTrpLeuAlaGluLeuGlnLysLeuGlyAlaGluValGluValCysHisValValAlaValGlyAlaLysSerGlnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265772" }, { "coordinates": [ { "allele": "T", "end": 2005, "referenceAllele": "C", "start": 2004 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "ENST00000565280.5:c.*447C>T" ], "proteinEffect": { "hgvs": "ENSP00000455573.1:n.*447C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS378653" }, { "@id": "http://reg.genome.network/allele/PA3057566070", "coordinates": [ { "allele": "T", "end": 1897, "referenceAllele": "C", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "NM_014967.4:c.1606C>T" ], "proteinEffect": { "hgvs": "NP_055782.3:p.Arg536Ter", "hgvsWellDefined": "NP_055782.3:p.Arg536_Ser1017delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgTyrAlaAlaAlaThrHisMetLeuSerAspIleSerSerAlaMetAlaAsnGlyAsnTrpGluGluAlaLysGluLeuAlaGlnCysAlaLysArgAspTrpAsnArgLeuLysAsnHisProSerLeuArgCysHisGluAspLeuProLeuPheLeuArgCysPheThrValGlyTrpIleTyrThrArgIleLeuSerArgPheValGluIleLeuGlnArgLeuHisMetTyrGluGluAlaValArgGluLeuGluSerLeuLeuSerGlnArgIleTyrCysProAspSerArgGlyArgTrpTrpAspArgLeuAlaLeuAsnLeuHisGlnHisLeuLysArgLeuGluProThrIleLysCysIleThrGluGlyLeuAlaAspProGluValArgThrGlyHisArgLeuSerLeuTyrGlnArgAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyIleHisGlyGluGlySerThrPheSerThrLeuTyrGlyLeuLeuLeuTrpAspIleIlePheMetAspGlyIleProAspValPheArgAsnAlaCysGlnAlaPheProLeuAspLeuCysThrAspSerPhePheThrSerArgArgProAlaLeuGluAlaArgLeuGlnLeuIleHisAspAlaProGluGluSerLeuArgAlaTrpValAlaAlaThrTrpHisGluGlnGluGlyArgValAlaSerLeuValSerTrpAspArgPheThrSerLeuGlnGlnAlaGlnAspLeuValSerCysLeuGlyGlyProValLeuSerGlyValCysArgHisLeuAlaAlaAspPheArgHisCysArgGlyGlyLeuProAspLeuValValTrpAsnSerGlnSerArgHisPheLysLeuValGluValLysGlyProAsnAspArgLeuSerHisLysGlnMetIleTrpLeuAlaGluLeuGlnLysLeuGlyAlaGluValGluValCysHisValValAlaValGlyAlaLysSerGlnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033633" }, { "coordinates": [ { "allele": "T", "end": 1882, "referenceAllele": "C", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_005254232.3:c.1606C>T" ], "proteinEffect": { "hgvs": "XP_005254289.1:p.Arg536Ter", "hgvsWellDefined": "XP_005254289.1:p.Arg536_Ser1017delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgTyrAlaAlaAlaThrHisMetLeuSerAspIleSerSerAlaMetAlaAsnGlyAsnTrpGluGluAlaLysGluLeuAlaGlnCysAlaLysArgAspTrpAsnArgLeuLysAsnHisProSerLeuArgCysHisGluAspLeuProLeuPheLeuArgCysPheThrValGlyTrpIleTyrThrArgIleLeuSerArgPheValGluIleLeuGlnArgLeuHisMetTyrGluGluAlaValArgGluLeuGluSerLeuLeuSerGlnArgIleTyrCysProAspSerArgGlyArgTrpTrpAspArgLeuAlaLeuAsnLeuHisGlnHisLeuLysArgLeuGluProThrIleLysCysIleThrGluGlyLeuAlaAspProGluValArgThrGlyHisArgLeuSerLeuTyrGlnArgAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyIleHisGlyGluGlySerThrPheSerThrLeuTyrGlyLeuLeuLeuTrpAspIleIlePheMetAspGlyIleProAspValPheArgAsnAlaCysGlnAlaPheProLeuAspLeuCysThrAspSerPhePheThrSerArgArgProAlaLeuGluAlaArgLeuGlnLeuIleHisAspAlaProGluGluSerLeuArgAlaTrpValAlaAlaThrTrpHisGluGlnGluGlyArgValAlaSerLeuValSerTrpAspArgPheThrSerLeuGlnGlnAlaGlnAspLeuValSerCysLeuGlyGlyProValLeuSerGlyValCysArgHisLeuAlaAlaAspPheArgHisCysArgGlyGlyLeuProAspLeuValValTrpAsnSerGlnSerArgHisPheLysLeuValGluValLysGlyProAsnAspArgLeuSerHisLysGlnMetIleTrpLeuAlaGluLeuGlnLysLeuGlyAlaGluValGluValCysHisValValAlaValGlyAlaLysSerGlnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060559" }, { "coordinates": [ { "allele": "T", "end": 1794, "referenceAllele": "C", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_005254234.3:c.1606C>T" ], "proteinEffect": { "hgvs": "XP_005254291.1:p.Arg536Ter", "hgvsWellDefined": "XP_005254291.1:p.Arg536_Ser1017delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgTyrAlaAlaAlaThrHisMetLeuSerAspIleSerSerAlaMetAlaAsnGlyAsnTrpGluGluAlaLysGluLeuAlaGlnCysAlaLysArgAspTrpAsnArgLeuLysAsnHisProSerLeuArgCysHisGluAspLeuProLeuPheLeuArgCysPheThrValGlyTrpIleTyrThrArgIleLeuSerArgPheValGluIleLeuGlnArgLeuHisMetTyrGluGluAlaValArgGluLeuGluSerLeuLeuSerGlnArgIleTyrCysProAspSerArgGlyArgTrpTrpAspArgLeuAlaLeuAsnLeuHisGlnHisLeuLysArgLeuGluProThrIleLysCysIleThrGluGlyLeuAlaAspProGluValArgThrGlyHisArgLeuSerLeuTyrGlnArgAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyIleHisGlyGluGlySerThrPheSerThrLeuTyrGlyLeuLeuLeuTrpAspIleIlePheMetAspGlyIleProAspValPheArgAsnAlaCysGlnAlaPheProLeuAspLeuCysThrAspSerPhePheThrSerArgArgProAlaLeuGluAlaArgLeuGlnLeuIleHisAspAlaProGluGluSerLeuArgAlaTrpValAlaAlaThrTrpHisGluGlnGluGlyArgValAlaSerLeuValSerTrpAspArgPheThrSerLeuGlnGlnAlaGlnAspLeuValSerCysLeuGlyGlyProValLeuSerGlyValCysArgHisLeuAlaAlaAspPheArgHisCysArgGlyGlyLeuProAspLeuValValTrpAsnSerGlnSerArgHisPheLysLeuValGluValLysGlyProAsnAspArgLeuSerHisLysGlnMetIleTrpLeuAlaGluLeuGlnLysLeuGlyAlaGluValGluValCysHisValValAlaValGlyAlaLysSerGlnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060560" }, { "coordinates": [ { "allele": "T", "end": 1787, "referenceAllele": "C", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_005254235.3:c.1606C>T" ], "proteinEffect": { "hgvs": "XP_005254292.1:p.Arg536Ter", "hgvsWellDefined": "XP_005254292.1:p.Arg536_Ser1017delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgTyrAlaAlaAlaThrHisMetLeuSerAspIleSerSerAlaMetAlaAsnGlyAsnTrpGluGluAlaLysGluLeuAlaGlnCysAlaLysArgAspTrpAsnArgLeuLysAsnHisProSerLeuArgCysHisGluAspLeuProLeuPheLeuArgCysPheThrValGlyTrpIleTyrThrArgIleLeuSerArgPheValGluIleLeuGlnArgLeuHisMetTyrGluGluAlaValArgGluLeuGluSerLeuLeuSerGlnArgIleTyrCysProAspSerArgGlyArgTrpTrpAspArgLeuAlaLeuAsnLeuHisGlnHisLeuLysArgLeuGluProThrIleLysCysIleThrGluGlyLeuAlaAspProGluValArgThrGlyHisArgLeuSerLeuTyrGlnArgAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyIleHisGlyGluGlySerThrPheSerThrLeuTyrGlyLeuLeuLeuTrpAspIleIlePheMetAspGlyIleProAspValPheArgAsnAlaCysGlnAlaPheProLeuAspLeuCysThrAspSerPhePheThrSerArgArgProAlaLeuGluAlaArgLeuGlnLeuIleHisAspAlaProGluGluSerLeuArgAlaTrpValAlaAlaThrTrpHisGluGlnGluGlyArgValAlaSerLeuValSerTrpAspArgPheThrSerLeuGlnGlnAlaGlnAspLeuValSerCysLeuGlyGlyProValLeuSerGlyValCysArgHisLeuAlaAlaAspPheArgHisCysArgGlyGlyLeuProAspLeuValValTrpAsnSerGlnSerArgHisPheLysLeuValGluValLysGlyProAsnAspArgLeuSerHisLysGlnMetIleTrpLeuAlaGluLeuGlnLysLeuGlyAlaGluValGluValCysHisValValAlaValGlyAlaLysSerGlnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060561" }, { "coordinates": [ { "allele": "T", "end": 1897, "referenceAllele": "C", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_005254236.2:c.1606C>T" ], "proteinEffect": { "hgvs": "XP_005254293.1:p.Arg536Ter", "hgvsWellDefined": "XP_005254293.1:p.Arg536_Glu904delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgTyrAlaAlaAlaThrHisMetLeuSerAspIleSerSerAlaMetAlaAsnGlyAsnTrpGluGluAlaLysGluLeuAlaGlnCysAlaLysArgAspTrpAsnArgLeuLysAsnHisProSerLeuArgCysHisGluAspLeuProLeuPheLeuArgCysPheThrValGlyTrpIleTyrThrArgIleLeuSerArgPheValGluIleLeuGlnArgLeuHisMetTyrGluGluAlaValArgGluLeuGluSerLeuLeuSerGlnArgIleTyrCysProAspSerArgGlyArgTrpTrpAspArgLeuAlaLeuAsnLeuHisGlnHisLeuLysArgLeuGluProThrIleLysCysIleThrGluGlyLeuAlaAspProGluValArgThrGlyHisArgLeuSerLeuTyrGlnArgAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyLysGlyAspValIleGlyGluAspValGlnMetProValLysThrGluArgTyrSerArgProGluMetValArgAsnArgArgIleGluCysThrPheLysAlaProArgAspValGluThrGlyHisSerLeuGluGluGluAlaGlyTrpAspValGlyAlaLeuLysCysPheGlnLeuSerHisGluProGluLysHisThrIleProPheProGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060562" }, { "coordinates": [ { "allele": "T", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_011521370.1:c.424C>T" ], "proteinEffect": { "hgvs": "XP_011519672.1:p.Arg142Ter", "hgvsWellDefined": "XP_011519672.1:p.Arg142_Ser623delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgTyrAlaAlaAlaThrHisMetLeuSerAspIleSerSerAlaMetAlaAsnGlyAsnTrpGluGluAlaLysGluLeuAlaGlnCysAlaLysArgAspTrpAsnArgLeuLysAsnHisProSerLeuArgCysHisGluAspLeuProLeuPheLeuArgCysPheThrValGlyTrpIleTyrThrArgIleLeuSerArgPheValGluIleLeuGlnArgLeuHisMetTyrGluGluAlaValArgGluLeuGluSerLeuLeuSerGlnArgIleTyrCysProAspSerArgGlyArgTrpTrpAspArgLeuAlaLeuAsnLeuHisGlnHisLeuLysArgLeuGluProThrIleLysCysIleThrGluGlyLeuAlaAspProGluValArgThrGlyHisArgLeuSerLeuTyrGlnArgAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyIleHisGlyGluGlySerThrPheSerThrLeuTyrGlyLeuLeuLeuTrpAspIleIlePheMetAspGlyIleProAspValPheArgAsnAlaCysGlnAlaPheProLeuAspLeuCysThrAspSerPhePheThrSerArgArgProAlaLeuGluAlaArgLeuGlnLeuIleHisAspAlaProGluGluSerLeuArgAlaTrpValAlaAlaThrTrpHisGluGlnGluGlyArgValAlaSerLeuValSerTrpAspArgPheThrSerLeuGlnGlnAlaGlnAspLeuValSerCysLeuGlyGlyProValLeuSerGlyValCysArgHisLeuAlaAlaAspPheArgHisCysArgGlyGlyLeuProAspLeuValValTrpAsnSerGlnSerArgHisPheLysLeuValGluValLysGlyProAsnAspArgLeuSerHisLysGlnMetIleTrpLeuAlaGluLeuGlnLysLeuGlyAlaGluValGluValCysHisValValAlaValGlyAlaLysSerGlnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088531" }, { "coordinates": [ { "allele": "T", "end": 2016, "referenceAllele": "C", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_011521371.1:c.421C>T" ], "proteinEffect": { "hgvs": "XP_011519673.1:p.Arg141Ter", "hgvsWellDefined": "XP_011519673.1:p.Arg141_Ser622delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgTyrAlaAlaAlaThrHisMetLeuSerAspIleSerSerAlaMetAlaAsnGlyAsnTrpGluGluAlaLysGluLeuAlaGlnCysAlaLysArgAspTrpAsnArgLeuLysAsnHisProSerLeuArgCysHisGluAspLeuProLeuPheLeuArgCysPheThrValGlyTrpIleTyrThrArgIleLeuSerArgPheValGluIleLeuGlnArgLeuHisMetTyrGluGluAlaValArgGluLeuGluSerLeuLeuSerGlnArgIleTyrCysProAspSerArgGlyArgTrpTrpAspArgLeuAlaLeuAsnLeuHisGlnHisLeuLysArgLeuGluProThrIleLysCysIleThrGluGlyLeuAlaAspProGluValArgThrGlyHisArgLeuSerLeuTyrGlnArgAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyIleHisGlyGluGlySerThrPheSerThrLeuTyrGlyLeuLeuLeuTrpAspIleIlePheMetAspGlyIleProAspValPheArgAsnAlaCysGlnAlaPheProLeuAspLeuCysThrAspSerPhePheThrSerArgArgProAlaLeuGluAlaArgLeuGlnLeuIleHisAspAlaProGluGluSerLeuArgAlaTrpValAlaAlaThrTrpHisGluGlnGluGlyArgValAlaSerLeuValSerTrpAspArgPheThrSerLeuGlnGlnAlaGlnAspLeuValSerCysLeuGlyGlyProValLeuSerGlyValCysArgHisLeuAlaAlaAspPheArgHisCysArgGlyGlyLeuProAspLeuValValTrpAsnSerGlnSerArgHisPheLysLeuValGluValLysGlyProAsnAspArgLeuSerHisLysGlnMetIleTrpLeuAlaGluLeuGlnLysLeuGlyAlaGluValGluValCysHisValValAlaValGlyAlaLysSerGlnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088532" }, { "coordinates": [ { "allele": "T", "end": 1897, "referenceAllele": "C", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_011521372.1:c.1606C>T" ], "proteinEffect": { "hgvs": "XP_011519674.1:p.Arg536Ter", "hgvsWellDefined": "XP_011519674.1:p.Arg536_Gly609delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgValArgSerSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088533" }, { "coordinates": [ { "allele": "T", "end": 1905, "referenceAllele": "C", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_005254232.4:c.1606C>T" ], "proteinEffect": { "hgvs": "XP_005254289.1:p.Arg536Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS534084" }, { "coordinates": [ { "allele": "T", "end": 1780, "referenceAllele": "C", "start": 1779 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_005254234.5:c.1606C>T" ], "proteinEffect": { "hgvs": "XP_005254291.1:p.Arg536Ter", "hgvsWellDefined": "XP_005254291.1:p.Arg536_Ser1017delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgTyrAlaAlaAlaThrHisMetLeuSerAspIleSerSerAlaMetAlaAsnGlyAsnTrpGluGluAlaLysGluLeuAlaGlnCysAlaLysArgAspTrpAsnArgLeuLysAsnHisProSerLeuArgCysHisGluAspLeuProLeuPheLeuArgCysPheThrValGlyTrpIleTyrThrArgIleLeuSerArgPheValGluIleLeuGlnArgLeuHisMetTyrGluGluAlaValArgGluLeuGluSerLeuLeuSerGlnArgIleTyrCysProAspSerArgGlyArgTrpTrpAspArgLeuAlaLeuAsnLeuHisGlnHisLeuLysArgLeuGluProThrIleLysCysIleThrGluGlyLeuAlaAspProGluValArgThrGlyHisArgLeuSerLeuTyrGlnArgAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyIleHisGlyGluGlySerThrPheSerThrLeuTyrGlyLeuLeuLeuTrpAspIleIlePheMetAspGlyIleProAspValPheArgAsnAlaCysGlnAlaPheProLeuAspLeuCysThrAspSerPhePheThrSerArgArgProAlaLeuGluAlaArgLeuGlnLeuIleHisAspAlaProGluGluSerLeuArgAlaTrpValAlaAlaThrTrpHisGluGlnGluGlyArgValAlaSerLeuValSerTrpAspArgPheThrSerLeuGlnGlnAlaGlnAspLeuValSerCysLeuGlyGlyProValLeuSerGlyValCysArgHisLeuAlaAlaAspPheArgHisCysArgGlyGlyLeuProAspLeuValValTrpAsnSerGlnSerArgHisPheLysLeuValGluValLysGlyProAsnAspArgLeuSerHisLysGlnMetIleTrpLeuAlaGluLeuGlnLysLeuGlyAlaGluValGluValCysHisValValAlaValGlyAlaLysSerGlnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534085" }, { "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_011521370.2:c.424C>T" ], "proteinEffect": { "hgvs": "XP_011519672.1:p.Arg142Ter", "hgvsWellDefined": "XP_011519672.1:p.Arg142_Ser623delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgTyrAlaAlaAlaThrHisMetLeuSerAspIleSerSerAlaMetAlaAsnGlyAsnTrpGluGluAlaLysGluLeuAlaGlnCysAlaLysArgAspTrpAsnArgLeuLysAsnHisProSerLeuArgCysHisGluAspLeuProLeuPheLeuArgCysPheThrValGlyTrpIleTyrThrArgIleLeuSerArgPheValGluIleLeuGlnArgLeuHisMetTyrGluGluAlaValArgGluLeuGluSerLeuLeuSerGlnArgIleTyrCysProAspSerArgGlyArgTrpTrpAspArgLeuAlaLeuAsnLeuHisGlnHisLeuLysArgLeuGluProThrIleLysCysIleThrGluGlyLeuAlaAspProGluValArgThrGlyHisArgLeuSerLeuTyrGlnArgAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyIleHisGlyGluGlySerThrPheSerThrLeuTyrGlyLeuLeuLeuTrpAspIleIlePheMetAspGlyIleProAspValPheArgAsnAlaCysGlnAlaPheProLeuAspLeuCysThrAspSerPhePheThrSerArgArgProAlaLeuGluAlaArgLeuGlnLeuIleHisAspAlaProGluGluSerLeuArgAlaTrpValAlaAlaThrTrpHisGluGlnGluGlyArgValAlaSerLeuValSerTrpAspArgPheThrSerLeuGlnGlnAlaGlnAspLeuValSerCysLeuGlyGlyProValLeuSerGlyValCysArgHisLeuAlaAlaAspPheArgHisCysArgGlyGlyLeuProAspLeuValValTrpAsnSerGlnSerArgHisPheLysLeuValGluValLysGlyProAsnAspArgLeuSerHisLysGlnMetIleTrpLeuAlaGluLeuGlnLysLeuGlyAlaGluValGluValCysHisValValAlaValGlyAlaLysSerGlnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546115" }, { "coordinates": [ { "allele": "T", "end": 1901, "referenceAllele": "C", "start": 1900 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_011521372.2:c.1606C>T" ], "proteinEffect": { "hgvs": "XP_011519674.1:p.Arg536Ter", "hgvsWellDefined": "XP_011519674.1:p.Arg536_Gly609delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgValArgSerSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546116" }, { "coordinates": [ { "allele": "T", "end": 1631, "referenceAllele": "C", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_017022012.2:c.-66C>T" ], "proteinEffect": { "hgvs": "XP_016877501.1:n.-66C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573070" }, { "coordinates": [ { "allele": "T", "end": 1680, "referenceAllele": "C", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_017022013.1:c.-66C>T" ], "proteinEffect": { "hgvs": "XP_016877502.1:n.-66C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573071" }, { "coordinates": [ { "allele": "T", "end": 1914, "referenceAllele": "C", "start": 1913 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XM_024449874.1:c.421C>T" ], "proteinEffect": { "hgvs": "XP_024305642.1:p.Arg141Ter", "hgvsWellDefined": "XP_024305642.1:p.Arg141_Ser622delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgTyrAlaAlaAlaThrHisMetLeuSerAspIleSerSerAlaMetAlaAsnGlyAsnTrpGluGluAlaLysGluLeuAlaGlnCysAlaLysArgAspTrpAsnArgLeuLysAsnHisProSerLeuArgCysHisGluAspLeuProLeuPheLeuArgCysPheThrValGlyTrpIleTyrThrArgIleLeuSerArgPheValGluIleLeuGlnArgLeuHisMetTyrGluGluAlaValArgGluLeuGluSerLeuLeuSerGlnArgIleTyrCysProAspSerArgGlyArgTrpTrpAspArgLeuAlaLeuAsnLeuHisGlnHisLeuLysArgLeuGluProThrIleLysCysIleThrGluGlyLeuAlaAspProGluValArgThrGlyHisArgLeuSerLeuTyrGlnArgAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyIleHisGlyGluGlySerThrPheSerThrLeuTyrGlyLeuLeuLeuTrpAspIleIlePheMetAspGlyIleProAspValPheArgAsnAlaCysGlnAlaPheProLeuAspLeuCysThrAspSerPhePheThrSerArgArgProAlaLeuGluAlaArgLeuGlnLeuIleHisAspAlaProGluGluSerLeuArgAlaTrpValAlaAlaThrTrpHisGluGlnGluGlyArgValAlaSerLeuValSerTrpAspArgPheThrSerLeuGlnGlnAlaGlnAspLeuValSerCysLeuGlyGlyProValLeuSerGlyValCysArgHisLeuAlaAlaAspPheArgHisCysArgGlyGlyLeuProAspLeuValValTrpAsnSerGlnSerArgHisPheLysLeuValGluValLysGlyProAsnAspArgLeuSerHisLysGlnMetIleTrpLeuAlaGluLeuGlnLysLeuGlyAlaGluValGluValCysHisValValAlaValGlyAlaLysSerGlnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583416" }, { "coordinates": [ { "allele": "T", "end": 1905, "referenceAllele": "C", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XR_001751149.1:n.1905C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598151" }, { "coordinates": [ { "allele": "T", "end": 1901, "referenceAllele": "C", "start": 1900 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "XR_001751151.1:n.1901C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598152" }, { "@id": "http://reg.genome.network/allele/PA3057566070", "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN029170", "geneNCBI_id": 22909, "geneSymbol": "FAN1", "hgvs": [ "NM_014967.5:c.1606C>T" ], "proteinEffect": { "hgvs": "NP_055782.3:p.Arg536Ter", "hgvsWellDefined": "NP_055782.3:p.Arg536_Ser1017delinsIleCysLysGlyProArgAlaValPheSerArgIleLeuLeuLeuPheSerLeuThrAspSerMetGluAspGluAspAlaAlaCysGlyGlyGlnGlyGlnLeuSerThrValLeuLeuValAsnLeuGlyArgMetGluPheProSerTyrThrIleAsnArgLysThrHisIlePheGlnAspArgAspAspLeuIleArgTyrAlaAlaAlaThrHisMetLeuSerAspIleSerSerAlaMetAlaAsnGlyAsnTrpGluGluAlaLysGluLeuAlaGlnCysAlaLysArgAspTrpAsnArgLeuLysAsnHisProSerLeuArgCysHisGluAspLeuProLeuPheLeuArgCysPheThrValGlyTrpIleTyrThrArgIleLeuSerArgPheValGluIleLeuGlnArgLeuHisMetTyrGluGluAlaValArgGluLeuGluSerLeuLeuSerGlnArgIleTyrCysProAspSerArgGlyArgTrpTrpAspArgLeuAlaLeuAsnLeuHisGlnHisLeuLysArgLeuGluProThrIleLysCysIleThrGluGlyLeuAlaAspProGluValArgThrGlyHisArgLeuSerLeuTyrGlnArgAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyIleHisGlyGluGlySerThrPheSerThrLeuTyrGlyLeuLeuLeuTrpAspIleIlePheMetAspGlyIleProAspValPheArgAsnAlaCysGlnAlaPheProLeuAspLeuCysThrAspSerPhePheThrSerArgArgProAlaLeuGluAlaArgLeuGlnLeuIleHisAspAlaProGluGluSerLeuArgAlaTrpValAlaAlaThrTrpHisGluGlnGluGlyArgValAlaSerLeuValSerTrpAspArgPheThrSerLeuGlnGlnAlaGlnAspLeuValSerCysLeuGlyGlyProValLeuSerGlyValCysArgHisLeuAlaAlaAspPheArgHisCysArgGlyGlyLeuProAspLeuValValTrpAsnSerGlnSerArgHisPheLysLeuValGluValLysGlyProAsnAspArgLeuSerHisLysGlnMetIleTrpLeuAlaGluLeuGlnLysLeuGlyAlaGluValGluValCysHisValValAlaValGlyAlaLysSerGlnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697406", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000362065.9:c.1606C>T" }, "RefSeq": { "hgvs": "NM_014967.5:c.1606C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354497.4:p.Arg536Ter" }, "RefSeq": { "hgvs": "NP_055782.3:p.Arg536Ter" } } } } ], "type": "nucleotide" }