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"ENSP00000289081.3:p.Trp22_Val558delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253552" }, { "coordinates": [ { "allele": "A", "end": 241, "referenceAllele": "G", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "ENST00000375305.5:c.66G>A" ], "proteinEffect": { "hgvs": "ENSP00000364454.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000364454.1:p.Trp22_Val558delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270650" }, { "coordinates": [ { "allele": "A", "end": 207, "referenceAllele": "G", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "ENST00000433829.1:c.66G>A" ], "proteinEffect": { "hgvs": "ENSP00000406908.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000406908.1:p.Trp22_Leu150del" }, "referenceSequence": "http://reg.genome.network/refseq/RS292730" }, { "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "ENST00000474949.1:n.328G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316344" }, { "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "ENST00000490972.6:c.66G>A" ], "proteinEffect": { "hgvs": "ENSP00000479931.1:p.Trp22Ter", "hgvsWellDefined": "ENSP00000479931.1:p.Trp22_Ile492delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetMetAlaTyrValMetAlaThrCysArgHisGlyAspLeuGlnProCysGlyGlnArgArgSerProValProThrGluValAlaArgAspGluThrLeuProAlaHisSerProAlaLysArgArgProPhePheProLysValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS328683" }, { "@id": "http://reg.genome.network/allele/PA274139", "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "NM_000136.2:c.66G>A", "LRG_497t1:c.66G>A" ], "proteinEffect": { "hgvs": "NP_000127.2:p.Trp22Ter", "hgvsWellDefined": "NP_000127.2:p.Trp22_Val558delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006198" }, { "@id": "http://reg.genome.network/allele/PA2826330056", "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "G", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "NM_001243743.1:c.66G>A" ], "proteinEffect": { "hgvs": "NP_001230672.1:p.Trp22Ter", "hgvsWellDefined": "NP_001230672.1:p.Trp22_Val558delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018579" }, { "@id": "http://reg.genome.network/allele/PA916006729", "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "NM_001243744.1:c.66G>A" ], "proteinEffect": { "hgvs": "NP_001230673.1:p.Trp22Ter", "hgvsWellDefined": "NP_001230673.1:p.Trp22_Ile492delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetMetAlaTyrValMetAlaThrCysArgHisGlyAspLeuGlnProCysGlyGlnArgArgSerProValProThrGluValAlaArgAspGluThrLeuProAlaHisSerProAlaLysArgArgProPhePheProLysValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018580" }, { "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_006717001.1:c.66G>A" ], "proteinEffect": { "hgvs": "XP_006717064.1:p.Trp22Ter", "hgvsWellDefined": "XP_006717064.1:p.Trp22_Val503delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071945" }, { "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_006717002.2:c.66G>A" ], "proteinEffect": { "hgvs": "XP_006717065.1:p.Trp22Ter", "hgvsWellDefined": "XP_006717065.1:p.Trp22_Trp454delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValSerSerTrpHisGlyAlaLeuThrAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071946" }, { "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_006717004.2:c.66G>A" ], "proteinEffect": { "hgvs": "XP_006717067.1:p.Trp22Ter", "hgvsWellDefined": "XP_006717067.1:p.Trp22_His342delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnIleSerLeuGlyAspThrGlySerArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071947" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_011518365.1:c.66G>A" ], "proteinEffect": { "hgvs": "XP_011516667.1:p.Trp22Ter", "hgvsWellDefined": "XP_011516667.1:p.Trp22_Val558delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085539" }, { "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_011518366.1:c.66G>A" ], "proteinEffect": { "hgvs": "XP_011516668.1:p.Trp22Ter", "hgvsWellDefined": "XP_011516668.1:p.Trp22_Trp445delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085540" }, { "coordinates": [ { "allele": "A", "end": 241, "referenceAllele": "G", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_011518367.1:c.-536G>A" ], "proteinEffect": { "hgvs": "XP_011516669.1:n.-536G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS085541" }, { "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_006717001.3:c.66G>A" ], "proteinEffect": { "hgvs": "XP_006717064.1:p.Trp22Ter", "hgvsWellDefined": "XP_006717064.1:p.Trp22_Val503delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539304" }, { "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_006717002.4:c.66G>A" ], "proteinEffect": { "hgvs": "XP_006717065.1:p.Trp22Ter", "hgvsWellDefined": "XP_006717065.1:p.Trp22_Trp454delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValSerSerTrpHisGlyAlaLeuThrAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539305" }, { "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_006717004.4:c.66G>A" ], "proteinEffect": { "hgvs": "XP_006717067.1:p.Trp22Ter", "hgvsWellDefined": "XP_006717067.1:p.Trp22_His342delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnIleSerLeuGlyAspThrGlySerArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539306" }, { "coordinates": [ { "allele": "A", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_011518365.3:c.66G>A" ], "proteinEffect": { "hgvs": "XP_011516667.1:p.Trp22Ter", "hgvsWellDefined": "XP_011516667.1:p.Trp22_Val558delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544881" }, { "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_011518366.3:c.66G>A" ], "proteinEffect": { "hgvs": "XP_011516668.1:p.Trp22Ter", "hgvsWellDefined": "XP_011516668.1:p.Trp22_Trp445delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544882" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "G", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_011518367.2:c.-536G>A" ], "proteinEffect": { "hgvs": "XP_011516669.1:n.-536G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544883" }, { "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_017014452.2:c.-536G>A" ], "proteinEffect": { "hgvs": "XP_016869941.1:n.-536G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS567418" }, { "coordinates": [ { "allele": "A", "end": 257, "referenceAllele": "G", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_017014453.1:c.-536G>A" ], "proteinEffect": { "hgvs": "XP_016869942.1:n.-536G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS567419" }, { "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "G", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_017014454.1:c.-536G>A" ], "proteinEffect": { "hgvs": "XP_016869943.1:n.-536G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS567420" }, { "coordinates": [ { "allele": "A", "end": 302, "referenceAllele": "G", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "XM_024447451.1:c.66G>A" ], "proteinEffect": { "hgvs": "XP_024303219.1:p.Trp22Ter", "hgvsWellDefined": "XP_024303219.1:p.Trp22_Val558delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581033" }, { "@id": "http://reg.genome.network/allele/PA274139", "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "NM_000136.3:c.66G>A" ], "proteinEffect": { "hgvs": "NP_000127.2:p.Trp22Ter", "hgvsWellDefined": "NP_000127.2:p.Trp22_Val558delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674720", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000289081.8:c.66G>A" }, "RefSeq": { "hgvs": "NM_000136.3:c.66G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000289081.3:p.Trp22Ter" }, "RefSeq": { "hgvs": "NP_000127.2:p.Trp22Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826330056", "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "G", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "NM_001243743.2:c.66G>A" ], "proteinEffect": { "hgvs": "NP_001230672.1:p.Trp22Ter", "hgvsWellDefined": "NP_001230672.1:p.Trp22_Val558delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714504" }, { "@id": "http://reg.genome.network/allele/PA916006729", "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN003584", "geneNCBI_id": 2176, "geneSymbol": "FANCC", "hgvs": [ "NM_001243744.2:c.66G>A" ], "proteinEffect": { "hgvs": "NP_001230673.1:p.Trp22Ter", "hgvsWellDefined": "NP_001230673.1:p.Trp22_Ile492delinsAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetMetAlaTyrValMetAlaThrCysArgHisGlyAspLeuGlnProCysGlyGlnArgArgSerProValProThrGluValAlaArgAspGluThrLeuProAlaHisSerProAlaLysArgArgProPhePheProLysValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714505" } ], "type": "nucleotide" }