{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA370736538", "communityStandardTitle": [ "NM_023110.3(FGFR1):c.154C>T (p.Gln52Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2670425[alleleid]", "alleleId": 2670425, "preferredName": "NM_023110.3(FGFR1):c.154C>T (p.Gln52Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2505462", "RCV": [ "RCV003234730" ], "variationId": 2505462 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.38287404G>A?assembly=hg19", "id": "chr8:g.38287404G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.38429886G>A?assembly=hg38", "id": "chr8:g.38429886G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2150964621", "rs": 2150964621 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 38429886, 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{ "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000703405.1:c.154C>T" ], "proteinEffect": { "hgvs": "ENSP00000515291.1:p.Gln52Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS824777" }, { "coordinates": [ { "allele": "T", "end": 863, "referenceAllele": "C", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683276.1:n.863C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828257" }, { "coordinates": [ { "allele": "T", "end": 863, "referenceAllele": "C", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683765.1:c.154C>T" ], "proteinEffect": { "hgvs": "ENSP00000507039.1:p.Gln52Ter", "hgvsWellDefined": 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"NP_001167538.1:p.Gln85_Arg853delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValThrValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015647" }, { "@id": "http://reg.genome.network/allele/PA2829852736", "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_015850.3:c.154C>T" ], "proteinEffect": { "hgvs": "NP_056934.2:p.Gln52Ter", "hgvsWellDefined": "NP_056934.2:p.Gln52_Arg820delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValThrValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034242" }, { "coordinates": [ { "allele": "T", "end": 1033, "endIntronDirection": "-", "endIntronOffset": 1450, "referenceAllele": "C", "start": 1033, "startIntronDirection": "-", "startIntronOffset": 1451 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023105.2:c.92-1451C>T" ], "proteinEffect": { "hgvs": "NP_075593.1:n.92-1451C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS037565" }, { "coordinates": [ { "allele": "T", "end": 1033, "endIntronDirection": "-", "endIntronOffset": 1450, "referenceAllele": "C", "start": 1033, "startIntronDirection": "-", "startIntronOffset": 1451 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023106.2:c.92-1451C>T" ], "proteinEffect": { "hgvs": "NP_075594.1:n.92-1451C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS037566" }, { "@id": "http://reg.genome.network/allele/PA2830019545", "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023110.2:c.154C>T" ], "proteinEffect": { "hgvs": "NP_075598.2:p.Gln52Ter", "hgvsWellDefined": "NP_075598.2:p.Gln52_Arg822delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnArgMetProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValThrValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037567" }, { "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716303.2:c.154C>T" ], "proteinEffect": { "hgvs": "XP_006716366.1:p.Gln52Ter", "hgvsWellDefined": "XP_006716366.1:p.Gln52_Thr832delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnArgMetProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValThrValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071594" }, { "coordinates": [ { "allele": "T", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716304.1:c.154C>T" ], "proteinEffect": { "hgvs": "XP_006716367.1:p.Gln52Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS555669" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544445.2:c.253C>T" ], "proteinEffect": { "hgvs": "XP_011542747.1:p.Gln85Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS555670" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544446.2:c.253C>T" ], "proteinEffect": { "hgvs": "XP_011542748.1:p.Gln85Ter", "hgvsWellDefined": "XP_011542748.1:p.Gln85_Arg855delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnArgMetProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValThrValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555671" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544447.2:c.253C>T" ], "proteinEffect": { "hgvs": "XP_011542749.1:p.Gln85Ter", "hgvsWellDefined": "XP_011542749.1:p.Gln85_Arg853delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnArgMetProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555672" }, { "coordinates": [ { "allele": "T", "end": 205, "endIntronDirection": "-", "endIntronOffset": 1450, "referenceAllele": "C", "start": 205, "startIntronDirection": "-", "startIntronOffset": 1451 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544450.2:c.191-1451C>T" ], "proteinEffect": { "hgvs": "XP_011542752.1:n.191-1451C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS555673" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544452.2:c.253C>T" ], "proteinEffect": { "hgvs": "XP_011542754.1:p.Gln85Ter", "hgvsWellDefined": "XP_011542754.1:p.Gln85_Trp494delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysHisSerGlyIleAsnSerSerAspAlaGluValLeuThrLeuPheAsnValThrGluAlaGlnSerGlyGluTyrValCysLysValSerAsnTyrIleGlyGluAlaAsnGlnSerAlaTrpLeuThrValThrArgProValAlaLysGlyAsnGlyGluMetAspGlyThrLeuCysTrpGlyPheAspValGlyProLysLeuLeuGlyGlnAlaGlyLysProValLeuAspCysProCysHisProThrValPheLeuValProArgAlaMetGluLysTyrProAlaTrpGluAlaGlyLeuValTrpTyrCysValGlyValCysGlyPheProLeuCysLeuLeuCysValProTrpLeuCysValAspProCysGluAspSerArgGlyHisGlyPheAlaValLeuGlnMetValLeuGlnThrGluValValSerGluTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555674" }, { "coordinates": [ { "allele": "T", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013219.1:c.253C>T" ], "proteinEffect": { "hgvs": "XP_016868708.1:p.Gln85Ter", "hgvsWellDefined": "XP_016868708.1:p.Gln85_Thr861delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566584" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013220.1:c.253C>T" ], "proteinEffect": { "hgvs": "XP_016868709.1:p.Gln85Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS566585" }, { "coordinates": [ { "allele": "T", "end": 606, "referenceAllele": "C", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013221.1:c.154C>T" ], "proteinEffect": { "hgvs": "XP_016868710.1:p.Gln52Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS566586" }, { "coordinates": [ { "allele": "T", "end": 391, "referenceAllele": "C", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013222.2:c.154C>T" ], "proteinEffect": { "hgvs": "XP_016868711.1:p.Gln52Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS566587" }, { "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013224.2:c.154C>T" ], "proteinEffect": { "hgvs": "XP_016868713.1:p.Gln52Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS566588" }, { "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013225.2:c.154C>T" ], "proteinEffect": { "hgvs": "XP_016868714.1:p.Gln52Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS566589" }, { "coordinates": [ { "allele": "T", "end": 205, "endIntronDirection": "-", "endIntronOffset": 1450, "referenceAllele": "C", "start": 205, "startIntronDirection": "-", "startIntronOffset": 1451 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013226.1:c.191-1451C>T" ], "proteinEffect": { "hgvs": "XP_016868715.1:n.191-1451C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566590" }, { "coordinates": [ { "allele": "T", "end": 205, "endIntronDirection": "-", "endIntronOffset": 1450, "referenceAllele": "C", "start": 205, "startIntronDirection": "-", "startIntronOffset": 1451 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013227.1:c.191-1451C>T" ], "proteinEffect": { "hgvs": "XP_016868716.1:n.191-1451C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566591" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013231.1:c.253C>T" ], "proteinEffect": { "hgvs": "XP_016868720.1:p.Gln85Ter", "hgvsWellDefined": "XP_016868720.1:p.Gln85_Trp496delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnArgMetProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysHisSerGlyIleAsnSerSerAspAlaGluValLeuThrLeuPheAsnValThrGluAlaGlnSerGlyGluTyrValCysLysValSerAsnTyrIleGlyGluAlaAsnGlnSerAlaTrpLeuThrValThrArgProValAlaLysGlyAsnGlyGluMetAspGlyThrLeuCysTrpGlyPheAspValGlyProLysLeuLeuGlyGlnAlaGlyLysProValLeuAspCysProCysHisProThrValPheLeuValProArgAlaMetGluLysTyrProAlaTrpGluAlaGlyLeuValTrpTyrCysValGlyValCysGlyPheProLeuCysLeuLeuCysValProTrpLeuCysValAspProCysGluAspSerArgGlyHisGlyPheAlaValLeuGlnMetValLeuGlnThrGluValValSerGluTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566594" }, { "coordinates": [ { "allele": "T", "end": 131, "referenceAllele": "C", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_024447097.1:c.130C>T" ], "proteinEffect": { "hgvs": "XP_024302865.1:p.Gln44Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS580707" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XR_001745495.1:n.402C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594014" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XR_001745496.1:n.402C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594015" }, { "@id": "http://reg.genome.network/allele/PA2826098208", "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174063.2:c.154C>T" ], "proteinEffect": { "hgvs": "NP_001167534.1:p.Gln52Ter", "hgvsWellDefined": "NP_001167534.1:p.Gln52_Arg820delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnArgMetProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678840" }, { "@id": "http://reg.genome.network/allele/PA2826099079", "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "C", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174064.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001167535.1:p.Gln44Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS678841" }, { "@id": "http://reg.genome.network/allele/PA2826099865", "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174065.2:c.154C>T" ], "proteinEffect": { "hgvs": "NP_001167536.1:p.Gln52Ter", "hgvsWellDefined": "NP_001167536.1:p.Gln52_Arg820delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValThrValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678842" }, { "coordinates": [ { "allele": "T", "end": 232, "endIntronDirection": "-", "endIntronOffset": 1450, "referenceAllele": "C", "start": 232, "startIntronDirection": "-", "startIntronOffset": 1451 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174066.2:c.92-1451C>T" ], "proteinEffect": { "hgvs": "NP_001167537.1:n.92-1451C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS678843" }, { "coordinates": [ { "allele": "T", "end": 834, "endIntronDirection": "-", "endIntronOffset": 1450, "referenceAllele": "C", "start": 834, "startIntronDirection": "-", "startIntronOffset": 1451 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354368.2:c.92-1451C>T" ], "proteinEffect": { "hgvs": "NP_001341297.1:n.92-1451C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690147" }, { "@id": "http://reg.genome.network/allele/PA2829852736", "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_015850.4:c.154C>T" ], "proteinEffect": { "hgvs": "NP_056934.2:p.Gln52Ter", "hgvsWellDefined": "NP_056934.2:p.Gln52_Arg820delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValThrValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697614" }, { "coordinates": [ { "allele": "T", "end": 834, "endIntronDirection": "-", "endIntronOffset": 1450, "referenceAllele": "C", "start": 834, "startIntronDirection": "-", "startIntronOffset": 1451 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023105.3:c.92-1451C>T" ], "proteinEffect": { "hgvs": "NP_075593.1:n.92-1451C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS698625" }, { "coordinates": [ { "allele": "T", "end": 834, "endIntronDirection": "-", "endIntronOffset": 1450, "referenceAllele": "C", "start": 834, "startIntronDirection": "-", "startIntronOffset": 1451 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023106.3:c.92-1451C>T" ], "proteinEffect": { "hgvs": "NP_075594.1:n.92-1451C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS698626" }, { "@id": "http://reg.genome.network/allele/PA2830019545", "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023110.3:c.154C>T" ], "proteinEffect": { "hgvs": "NP_075598.2:p.Gln52Ter", "hgvsWellDefined": "NP_075598.2:p.Gln52_Arg822delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnArgMetProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValThrValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698627", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447712.7:c.154C>T" }, "RefSeq": { "hgvs": "NM_023110.3:c.154C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400162.2:p.Gln52Ter" }, "RefSeq": { "hgvs": "NP_075598.2:p.Gln52Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741843875", "coordinates": [ { "allele": "T", "end": 455, "referenceAllele": "C", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174067.2:c.253C>T" ], "proteinEffect": { "hgvs": "NP_001167538.1:p.Gln85Ter", "hgvsWellDefined": "NP_001167538.1:p.Gln85_Arg853delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValThrValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713491" }, { "@id": "http://reg.genome.network/allele/PA2827846918", "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354367.2:c.154C>T" ], "proteinEffect": { "hgvs": "NP_001341296.1:p.Gln52Ter", "hgvsWellDefined": "NP_001341296.1:p.Gln52_Thr830delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValThrValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720435" }, { "@id": "http://reg.genome.network/allele/PA2827847986", "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354369.2:c.154C>T" ], "proteinEffect": { "hgvs": "NP_001341298.1:p.Gln52Ter", "hgvsWellDefined": "NP_001341298.1:p.Gln52_Thr828delinsLeuArgCysArgLeuArgAspAspValGlnSerIleAsnTrpLeuArgAspGlyValGlnLeuAlaGluSerAsnArgThrArgIleThrGlyGluGluValGluValGlnAspSerValProAlaAspSerGlyLeuTyrAlaCysValThrSerSerProSerGlySerAspThrThrTyrPheSerValAsnValSerAspAlaLeuProSerSerGluAspAspAspAspAspAspAspSerSerSerGluGluLysGluThrAspAsnThrLysProAsnProValAlaProTyrTrpThrSerProGluLysMetGluLysLysLeuHisAlaValProAlaAlaLysThrValLysPheLysCysProSerSerGlyThrProAsnProThrLeuArgTrpLeuLysAsnGlyLysGluPheLysProAspHisArgIleGlyGlyTyrLysValArgTyrAlaThrTrpSerIleIleMetAspSerValValProSerAspLysGlyAsnTyrThrCysIleValGluAsnGluTyrGlySerIleAsnHisThrTyrGlnLeuAspValValGluArgSerProHisArgProIleLeuGlnAlaGlyLeuProAlaAsnLysThrValAlaLeuGlySerAsnValGluPheMetCysLysValTyrSerAspProGlnProHisIleGlnTrpLeuLysHisIleGluValAsnGlySerLysIleGlyProAspAsnLeuProTyrValGlnIleLeuLysThrAlaGlyValAsnThrThrAspLysGluMetGluValLeuHisLeuArgAsnValSerPheGluAspAlaGlyGluTyrThrCysLeuAlaGlyAsnSerIleGlyLeuSerHisHisSerAlaTrpLeuThrValLeuGluAlaLeuGluGluArgProAlaValMetThrSerProLeuTyrLeuGluIleIleIleTyrCysThrGlyAlaPheLeuIleSerCysMetValGlySerValIleValTyrLysMetLysSerGlyThrLysLysSerAspPheHisSerGlnMetAlaValHisLysLeuAlaLysSerIleProLeuArgArgGlnValSerAlaAspSerSerAlaSerMetAsnSerGlyValLeuLeuValArgProSerArgLeuSerSerSerGlyThrProMetLeuAlaGlyValSerGluTyrGluLeuProGluAspProArgTrpGluLeuProArgAspArgLeuValLeuGlyLysProLeuGlyGluGlyCysPheGlyGlnValValLeuAlaGluAlaIleGlyLeuAspLysAspLysProAsnArgValThrLysValAlaValLysMetLeuLysSerAspAlaThrGluLysAspLeuSerAspLeuIleSerGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720436" }, { "coordinates": [ { "allele": "T", "end": 834, "endIntronDirection": "-", "endIntronOffset": 1450, "referenceAllele": "C", "start": 834, "startIntronDirection": "-", "startIntronOffset": 1451 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354370.2:c.92-1451C>T" ], "proteinEffect": { "hgvs": "NP_001341299.1:n.92-1451C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720437" } ], "type": "nucleotide" }