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}, "referenceSequence": "http://reg.genome.network/refseq/RS262814" }, { "coordinates": [ { "allele": "T", "end": 1317, "referenceAllele": "G", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000356226.8:c.670G>T" ], "proteinEffect": { "hgvs": "ENSP00000348559.4:p.Glu224Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006203" }, { "coordinates": [ { "allele": "T", "end": 1237, "endIntronDirection": "+", "endIntronOffset": 1294, "referenceAllele": "G", "start": 1237, "startIntronDirection": "+", "startIntronOffset": 1293 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144913.1:c.1087+1294G>T" ], "proteinEffect": { "hgvs": "NP_001138385.1:n.1087+1294G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS013351" }, { "coordinates": [ { "allele": "T", "end": 898, "endIntronDirection": "-", "endIntronOffset": 2068, "referenceAllele": "G", "start": 898, "startIntronDirection": "-", "startIntronOffset": 2069 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144914.1:c.749-2069G>T" ], "proteinEffect": { "hgvs": "NP_001138386.1:n.749-2069G>T" }, "referenceSequence": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS013354" }, { "coordinates": [ { "allele": "T", "end": 1586, "endIntronDirection": "+", "endIntronOffset": 2591, "referenceAllele": "G", "start": 1586, "startIntronDirection": "+", "startIntronOffset": 2590 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144917.1:c.939+2591G>T" ], "proteinEffect": { "hgvs": "NP_001138389.1:n.939+2591G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS013355" }, { "coordinates": [ { "allele": "T", "end": 1317, "referenceAllele": "G", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144918.1:c.670G>T" ], "proteinEffect": { "hgvs": "NP_001138390.1:p.Glu224Ter", "hgvsWellDefined": 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"XP_006717776.1:p.Glu358_Arg806delinsTyrThrCysLeuAlaGlyAsnSerIleGlyIleSerPheHisSerAlaTrpLeuThrValLeuProAlaProGlyArgGluLysGluIleThrAlaSerProAspTyrLeuGluIleAlaIleTyrCysIleGlyValPheLeuIleAlaCysMetValValThrValIleLeuCysArgMetLysAsnThrThrLysLysProAspPheSerSerGlnProAlaValHisLysLeuThrLysArgIleProLeuArgArgGlnValThrValSerAlaGluSerSerSerSerMetAsnSerAsnThrProLeuValArgIleThrThrArgLeuSerSerThrAlaAspThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProLysTrpGluPheProArgAspLysLeuThrLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValMetAlaGluAlaValGlyIleAspLysAspLysProLysGluAlaValThrValAlaValLysMetLeuLysAspAspAlaThrGluLysAspLeuSerAspLeuValSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluProTyrSerProCysTyrProAspProArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072290" }, { "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "G", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_011539510.1:c.331G>T" ], "proteinEffect": { "hgvs": "XP_011537812.1:p.Glu111Ter", "hgvsWellDefined": "XP_011537812.1:p.Glu111_Thr593delinsTyrThrCysLeuAlaGlyAsnSerIleGlyIleSerPheHisSerAlaTrpLeuThrValLeuProAlaProGlyArgGluLysGluIleThrAlaSerProAspTyrLeuGluIleAlaIleTyrCysIleGlyValPheLeuIleAlaCysMetValValThrValIleLeuCysArgMetLysAsnThrThrLysLysProAspPheSerSerGlnProAlaValHisLysLeuThrLysArgIleProLeuArgArgGlnValThrValSerAlaGluSerSerSerSerMetAsnSerAsnThrProLeuValArgIleThrThrArgLeuSerSerThrAlaAspThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProLysTrpGluPheProArgAspLysLeuThrLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValMetAlaGluAlaValGlyIleAspLysAspLysProLysGluAlaValThrValAlaValLysMetLeuLysAspAspAlaThrGluLysAspLeuSerAspLeuValSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluGlnTyrSerProSerTyrProAspThrArgSerSerCysSerSerGlyAspAspSerValPheSerProAspProMetProTyrGluProCysLeuProGlnTyrProHisIleAsnGlySerValLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106460" }, { "coordinates": [ { "allele": "T", "end": 1046, "referenceAllele": "G", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320654.1:c.331G>T" ], "proteinEffect": { "hgvs": "NP_001307583.1:p.Glu111Ter", "hgvsWellDefined": "NP_001307583.1:p.Glu111_Thr593delinsTyrThrCysLeuAlaGlyAsnSerIleGlyIleSerPheHisSerAlaTrpLeuThrValLeuProAlaProGlyArgGluLysGluIleThrAlaSerProAspTyrLeuGluIleAlaIleTyrCysIleGlyValPheLeuIleAlaCysMetValValThrValIleLeuCysArgMetLysAsnThrThrLysLysProAspPheSerSerGlnProAlaValHisLysLeuThrLysArgIleProLeuArgArgGlnValThrValSerAlaGluSerSerSerSerMetAsnSerAsnThrProLeuValArgIleThrThrArgLeuSerSerThrAlaAspThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProLysTrpGluPheProArgAspLysLeuThrLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValMetAlaGluAlaValGlyIleAspLysAspLysProLysGluAlaValThrValAlaValLysMetLeuLysAspAspAlaThrGluLysAspLeuSerAspLeuValSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluGlnTyrSerProSerTyrProAspThrArgSerSerCysSerSerGlyAspAspSerValPheSerProAspProMetProTyrGluProCysLeuProGlnTyrProHisIleAsnGlySerValLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513707" }, { "coordinates": [ { "allele": "T", "end": 1662, "referenceAllele": "G", "start": 1661 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320658.1:c.1015G>T" ], "proteinEffect": { "hgvs": "NP_001307587.1:p.Glu339Ter", "hgvsWellDefined": "NP_001307587.1:p.Glu339_Thr819delinsTyrThrCysLeuAlaGlyAsnSerIleGlyIleSerPheHisSerAlaTrpLeuThrValLeuProAlaProGlyArgGluLysGluIleThrAlaSerProAspTyrLeuGluIleAlaIleTyrCysIleGlyValPheLeuIleAlaCysMetValValThrValIleLeuCysArgMetLysAsnThrThrLysLysProAspPheSerSerGlnProAlaValHisLysLeuThrLysArgIleProLeuArgArgGlnValSerAlaGluSerSerSerSerMetAsnSerAsnThrProLeuValArgIleThrThrArgLeuSerSerThrAlaAspThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProLysTrpGluPheProArgAspLysLeuThrLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValMetAlaGluAlaValGlyIleAspLysAspLysProLysGluAlaValThrValAlaValLysMetLeuLysAspAspAlaThrGluLysAspLeuSerAspLeuValSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluGlnTyrSerProSerTyrProAspThrArgSerSerCysSerSerGlyAspAspSerValPheSerProAspProMetProTyrGluProCysLeuProGlnTyrProHisIleAsnGlySerValLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513711" }, { "coordinates": [ { "allele": "T", "end": 1362, "endIntronDirection": "+", "endIntronOffset": 1294, "referenceAllele": "G", "start": 1362, "startIntronDirection": "+", "startIntronOffset": 1293 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717708.3:c.1144+1294G>T" ], "proteinEffect": { "hgvs": "XP_006717771.1:n.1144+1294G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS539461" }, { "coordinates": [ { "allele": "T", "end": 1362, "endIntronDirection": "+", "endIntronOffset": 1294, "referenceAllele": "G", "start": 1362, "startIntronDirection": "+", "startIntronOffset": 1293 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717710.4:c.1144+1294G>T" ], "proteinEffect": { "hgvs": "XP_006717773.1:n.1144+1294G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS539462" }, { "coordinates": [ { "allele": "T", "end": 1362, "endIntronDirection": "+", "endIntronOffset": 1294, "referenceAllele": "G", "start": 1362, "startIntronDirection": "+", "startIntronOffset": 1293 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_017015920.2:c.1144+1294G>T" ], "proteinEffect": { "hgvs": "XP_016871409.1:n.1144+1294G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS568504" }, { "coordinates": [ { "allele": "T", "end": 1290, "referenceAllele": "G", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_017015921.2:c.1072G>T" ], "proteinEffect": { "hgvs": "XP_016871410.1:p.Glu358Ter", "hgvsWellDefined": "XP_016871410.1:p.Glu358_Arg804delinsTyrThrCysLeuAlaGlyAsnSerIleGlyIleSerPheHisSerAlaTrpLeuThrValLeuProAlaProGlyArgGluLysGluIleThrAlaSerProAspTyrLeuGluIleAlaIleTyrCysIleGlyValPheLeuIleAlaCysMetValValThrValIleLeuCysArgMetLysAsnThrThrLysLysProAspPheSerSerGlnProAlaValHisLysLeuThrLysArgIleProLeuArgArgGlnValSerAlaGluSerSerSerSerMetAsnSerAsnThrProLeuValArgIleThrThrArgLeuSerSerThrAlaAspThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProLysTrpGluPheProArgAspLysLeuThrLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValMetAlaGluAlaValGlyIleAspLysAspLysProLysGluAlaValThrValAlaValLysMetLeuLysAspAspAlaThrGluLysAspLeuSerAspLeuValSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluProTyrSerProCysTyrProAspProArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568505" }, { "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "G", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_017015924.2:c.727G>T" ], "proteinEffect": { "hgvs": "XP_016871413.1:p.Glu243Ter", "hgvsWellDefined": "XP_016871413.1:p.Glu243_Thr725delinsTyrThrCysLeuAlaGlyAsnSerIleGlyIleSerPheHisSerAlaTrpLeuThrValLeuProAlaProGlyArgGluLysGluIleThrAlaSerProAspTyrLeuGluIleAlaIleTyrCysIleGlyValPheLeuIleAlaCysMetValValThrValIleLeuCysArgMetLysAsnThrThrLysLysProAspPheSerSerGlnProAlaValHisLysLeuThrLysArgIleProLeuArgArgGlnValThrValSerAlaGluSerSerSerSerMetAsnSerAsnThrProLeuValArgIleThrThrArgLeuSerSerThrAlaAspThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProLysTrpGluPheProArgAspLysLeuThrLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValMetAlaGluAlaValGlyIleAspLysAspLysProLysGluAlaValThrValAlaValLysMetLeuLysAspAspAlaThrGluLysAspLeuSerAspLeuValSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluGlnTyrSerProSerTyrProAspThrArgSerSerCysSerSerGlyAspAspSerValPheSerProAspProMetProTyrGluProCysLeuProGlnTyrProHisIleAsnGlySerValLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568506" }, { "coordinates": [ { "allele": "T", "end": 1190, "referenceAllele": "G", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_017015925.2:c.727G>T" ], "proteinEffect": { "hgvs": "XP_016871414.1:p.Glu243Ter", "hgvsWellDefined": "XP_016871414.1:p.Glu243_Arg689delinsTyrThrCysLeuAlaGlyAsnSerIleGlyIleSerPheHisSerAlaTrpLeuThrValLeuProAlaProGlyArgGluLysGluIleThrAlaSerProAspTyrLeuGluIleAlaIleTyrCysIleGlyValPheLeuIleAlaCysMetValValThrValIleLeuCysArgMetLysAsnThrThrLysLysProAspPheSerSerGlnProAlaValHisLysLeuThrLysArgIleProLeuArgArgGlnValSerAlaGluSerSerSerSerMetAsnSerAsnThrProLeuValArgIleThrThrArgLeuSerSerThrAlaAspThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProLysTrpGluPheProArgAspLysLeuThrLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValMetAlaGluAlaValGlyIleAspLysAspLysProLysGluAlaValThrValAlaValLysMetLeuLysAspAspAlaThrGluLysAspLeuSerAspLeuValSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluProTyrSerProCysTyrProAspProArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568507" }, { "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "G", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447887.1:c.805G>T" ], "proteinEffect": { "hgvs": "XP_024303655.1:p.Glu269Ter", "hgvsWellDefined": "XP_024303655.1:p.Glu269_Thr751delinsTyrThrCysLeuAlaGlyAsnSerIleGlyIleSerPheHisSerAlaTrpLeuThrValLeuProAlaProGlyArgGluLysGluIleThrAlaSerProAspTyrLeuGluIleAlaIleTyrCysIleGlyValPheLeuIleAlaCysMetValValThrValIleLeuCysArgMetLysAsnThrThrLysLysProAspPheSerSerGlnProAlaValHisLysLeuThrLysArgIleProLeuArgArgGlnValThrValSerAlaGluSerSerSerSerMetAsnSerAsnThrProLeuValArgIleThrThrArgLeuSerSerThrAlaAspThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProLysTrpGluPheProArgAspLysLeuThrLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValMetAlaGluAlaValGlyIleAspLysAspLysProLysGluAlaValThrValAlaValLysMetLeuLysAspAspAlaThrGluLysAspLeuSerAspLeuValSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluGlnTyrSerProSerTyrProAspThrArgSerSerCysSerSerGlyAspAspSerValPheSerProAspProMetProTyrGluProCysLeuProGlnTyrProHisIleAsnGlySerValLysThrTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS684993" }, { "coordinates": [ { "allele": "T", "end": 1451, "referenceAllele": "G", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NR_073009.2:n.1451G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702637" }, { "coordinates": [ { "allele": "T", "end": 1067, "referenceAllele": "G", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144915.2:c.748G>T" ], "proteinEffect": { "hgvs": "NP_001138387.1:p.Glu250Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS712725" }, { "coordinates": [ { "allele": "T", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144916.2:c.670G>T" ], "proteinEffect": { "hgvs": "NP_001138388.1:p.Glu224Ter", "hgvsWellDefined": "NP_001138388.1:p.Glu224_Thr706delinsTyrThrCysLeuAlaGlyAsnSerIleGlyIleSerPheHisSerAlaTrpLeuThrValLeuProAlaProGlyArgGluLysGluIleThrAlaSerProAspTyrLeuGluIleAlaIleTyrCysIleGlyValPheLeuIleAlaCysMetValValThrValIleLeuCysArgMetLysAsnThrThrLysLysProAspPheSerSerGlnProAlaValHisLysLeuThrLysArgIleProLeuArgArgGlnValThrValSerAlaGluSerSerSerSerMetAsnSerAsnThrProLeuValArgIleThrThrArgLeuSerSerThrAlaAspThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProLysTrpGluPheProArgAspLysLeuThrLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValMetAlaGluAlaValGlyIleAspLysAspLysProLysGluAlaValThrValAlaValLysMetLeuLysAspAspAlaThrGluLysAspLeuSerAspLeuValSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluGlnTyrSerProSerTyrProAspThrArgSerSerCysSerSerGlyAspAspSerValPheSerProAspProMetProTyrGluProCysLeuProGlnTyrProHisIleAsnGlySerValLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712726" }, { "coordinates": [ { "allele": "T", "end": 1046, "referenceAllele": "G", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320654.2:c.331G>T" ], "proteinEffect": { "hgvs": "NP_001307583.1:p.Glu111Ter", "hgvsWellDefined": "NP_001307583.1:p.Glu111_Thr593delinsTyrThrCysLeuAlaGlyAsnSerIleGlyIleSerPheHisSerAlaTrpLeuThrValLeuProAlaProGlyArgGluLysGluIleThrAlaSerProAspTyrLeuGluIleAlaIleTyrCysIleGlyValPheLeuIleAlaCysMetValValThrValIleLeuCysArgMetLysAsnThrThrLysLysProAspPheSerSerGlnProAlaValHisLysLeuThrLysArgIleProLeuArgArgGlnValThrValSerAlaGluSerSerSerSerMetAsnSerAsnThrProLeuValArgIleThrThrArgLeuSerSerThrAlaAspThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProLysTrpGluPheProArgAspLysLeuThrLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValMetAlaGluAlaValGlyIleAspLysAspLysProLysGluAlaValThrValAlaValLysMetLeuLysAspAspAlaThrGluLysAspLeuSerAspLeuValSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluGlnTyrSerProSerTyrProAspThrArgSerSerCysSerSerGlyAspAspSerValPheSerProAspProMetProTyrGluProCysLeuProGlnTyrProHisIleAsnGlySerValLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717810" } ], "type": "nucleotide" }