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"http://reg.genome.network/allele/PA915993561", "coordinates": [ { "allele": "G", "end": 2005, "referenceAllele": "C", "start": 2004 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174067.1:c.1682C>G" ], "proteinEffect": { "hgvs": "NP_001167538.1:p.Ser561Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA658810188", "coordinates": [ { "allele": "G", "end": 2531, "referenceAllele": "C", "start": 2530 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023110.2:c.1589C>G" ], "proteinEffect": { "hgvs": "NP_075598.2:p.Ser530Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS071594" }, { "coordinates": [ { "allele": "G", "end": 1848, "referenceAllele": "C", "start": 1847 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716304.1:c.1589C>G" ], "proteinEffect": { "hgvs": "XP_006716367.1:p.Ser530Ter", "hgvsWellDefined": "XP_006716367.1:p.Ser530_Thr832delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071595" }, { "coordinates": [ { "allele": "G", "end": 1856, "referenceAllele": "C", "start": 1855 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716305.2:c.1589C>G" ], "proteinEffect": { "hgvs": "XP_006716368.1:p.Ser530Ter", "hgvsWellDefined": "XP_006716368.1:p.Ser530_Thr832delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071596" }, { "coordinates": [ { "allele": "G", "end": 2326, "referenceAllele": "C", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716306.2:c.1583C>G" ], "proteinEffect": { "hgvs": "XP_006716369.1:p.Ser528Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS071597" }, { "coordinates": [ { "allele": "G", "end": 1842, "referenceAllele": "C", "start": 1841 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716307.1:c.1583C>G" ], "proteinEffect": { "hgvs": "XP_006716370.1:p.Ser528Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS071598" }, { "coordinates": [ { "allele": "G", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716309.2:c.1565C>G" ], "proteinEffect": { "hgvs": "XP_006716372.1:p.Ser522Ter", "hgvsWellDefined": "XP_006716372.1:p.Ser522_Thr824delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071599" }, { "coordinates": [ { "allele": "G", "end": 2065, "referenceAllele": "C", "start": 2064 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716310.2:c.1322C>G" ], "proteinEffect": { "hgvs": "XP_006716373.1:p.Ser441Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS071600" }, { "coordinates": [ { "allele": "G", "end": 1463, "referenceAllele": "C", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716311.1:c.1322C>G" ], "proteinEffect": { "hgvs": "XP_006716374.1:p.Ser441Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS071601" }, { "coordinates": [ { "allele": "G", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716312.1:c.1322C>G" ], "proteinEffect": { "hgvs": "XP_006716375.1:p.Ser441Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS071602" }, { "coordinates": [ { "allele": "G", "end": 2059, "referenceAllele": "C", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716313.2:c.1316C>G" ], "proteinEffect": { "hgvs": "XP_006716376.1:p.Ser439Ter", "hgvsWellDefined": "XP_006716376.1:p.Ser439_Thr741delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071603" }, { "coordinates": [ { "allele": "G", "end": 1537, "referenceAllele": "C", "start": 1536 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716314.1:c.1316C>G" ], "proteinEffect": { "hgvs": "XP_006716377.1:p.Ser439Ter", "hgvsWellDefined": "XP_006716377.1:p.Ser439_Thr741delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071604" }, { "coordinates": [ { "allele": "G", "end": 1832, "referenceAllele": "C", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544443.1:c.1688C>G" ], "proteinEffect": { "hgvs": "XP_011542745.1:p.Ser563Ter", "hgvsWellDefined": "XP_011542745.1:p.Ser563_Thr865delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111354" }, { "coordinates": [ { "allele": "G", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544444.1:c.1682C>G" ], "proteinEffect": { "hgvs": "XP_011542746.1:p.Ser561Ter", "hgvsWellDefined": "XP_011542746.1:p.Ser561_Thr863delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111355" }, { "coordinates": [ { "allele": "G", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544445.1:c.1682C>G" ], "proteinEffect": { "hgvs": "XP_011542747.1:p.Ser561Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS111356" }, { "coordinates": [ { "allele": "G", "end": 1832, "referenceAllele": "C", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544446.1:c.1688C>G" ], "proteinEffect": { "hgvs": "XP_011542748.1:p.Ser563Ter", "hgvsWellDefined": "XP_011542748.1:p.Ser563_Arg855delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111357" }, { 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"XP_011542749.1:p.Ser561_Arg853delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111358" }, { "coordinates": [ { "allele": "G", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544448.1:c.1421C>G" ], "proteinEffect": { "hgvs": "XP_011542750.1:p.Ser474Ter", "hgvsWellDefined": "XP_011542750.1:p.Ser474_Thr776delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111359" }, { "coordinates": [ { "allele": "G", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544449.1:c.1415C>G" ], "proteinEffect": { "hgvs": "XP_011542751.1:p.Ser472Ter", "hgvsWellDefined": "XP_011542751.1:p.Ser472_Thr774delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111360" }, { "coordinates": [ { "allele": "G", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544450.1:c.1415C>G" ], "proteinEffect": { "hgvs": "XP_011542752.1:p.Ser472Ter", "hgvsWellDefined": "XP_011542752.1:p.Ser472_Arg764delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111361" }, { 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"XP_011542753.1:p.Ser433_Thr735delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111362" }, { "@id": "http://reg.genome.network/allele/PA2827847260", "coordinates": [ { "allele": "G", "end": 2525, "referenceAllele": "C", "start": 2524 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354367.1:c.1583C>G" ], "proteinEffect": { "hgvs": "NP_001341296.1:p.Ser528Ter", "hgvsWellDefined": "NP_001341296.1:p.Ser528_Thr830delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522356" }, { "@id": "http://reg.genome.network/allele/PA2827847723", "coordinates": [ { "allele": "G", "end": 2252, "referenceAllele": "C", "start": 2251 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354368.1:c.1310C>G" ], "proteinEffect": { "hgvs": "NP_001341297.1:p.Ser437Ter", "hgvsWellDefined": "NP_001341297.1:p.Ser437_Arg729delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522357" }, { "@id": "http://reg.genome.network/allele/PA2827848326", "coordinates": [ { "allele": "G", "end": 1839, "referenceAllele": "C", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354369.1:c.1577C>G" ], "proteinEffect": { "hgvs": "NP_001341298.1:p.Ser526Ter", "hgvsWellDefined": "NP_001341298.1:p.Ser526_Thr828delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522358" }, { "@id": "http://reg.genome.network/allele/PA2827848799", "coordinates": [ { "allele": "G", "end": 2258, "referenceAllele": "C", "start": 2257 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354370.1:c.1316C>G" ], "proteinEffect": { "hgvs": "NP_001341299.1:p.Ser439Ter", "hgvsWellDefined": "NP_001341299.1:p.Ser439_Thr741delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522359" }, { "coordinates": [ { "allele": "G", "end": 2238, "referenceAllele": "C", "start": 2237 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716303.3:c.1589C>G" ], "proteinEffect": { "hgvs": "XP_006716366.1:p.Ser530Ter", "hgvsWellDefined": "XP_006716366.1:p.Ser530_Thr832delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539145" }, { "coordinates": [ { "allele": "G", "end": 1971, "referenceAllele": "C", "start": 1970 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716310.3:c.1322C>G" ], "proteinEffect": { "hgvs": "XP_006716373.1:p.Ser441Ter", "hgvsWellDefined": "XP_006716373.1:p.Ser441_Thr743delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539146" }, { "coordinates": [ { "allele": "G", "end": 1584, "referenceAllele": "C", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716312.2:c.1322C>G" ], "proteinEffect": { "hgvs": "XP_006716375.1:p.Ser441Ter", "hgvsWellDefined": "XP_006716375.1:p.Ser441_Thr743delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539147" }, { "coordinates": [ { "allele": "G", "end": 1520, "referenceAllele": "C", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716314.2:c.1316C>G" ], "proteinEffect": { "hgvs": "XP_006716377.1:p.Ser439Ter", "hgvsWellDefined": "XP_006716377.1:p.Ser439_Thr741delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539148" }, { "coordinates": [ { "allele": "G", "end": 1837, "referenceAllele": "C", "start": 1836 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544443.2:c.1688C>G" ], "proteinEffect": { "hgvs": "XP_011542745.1:p.Ser563Ter", "hgvsWellDefined": "XP_011542745.1:p.Ser563_Thr865delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555669" }, { "coordinates": [ { "allele": "G", "end": 1839, "referenceAllele": "C", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544445.2:c.1682C>G" ], "proteinEffect": { "hgvs": "XP_011542747.1:p.Ser561Ter", "hgvsWellDefined": "XP_011542747.1:p.Ser561_Thr863delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555670" }, { "coordinates": [ { "allele": "G", "end": 1832, "referenceAllele": "C", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544446.2:c.1688C>G" ], "proteinEffect": { "hgvs": "XP_011542748.1:p.Ser563Ter", "hgvsWellDefined": 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"coordinates": [ { "allele": "G", "end": 1994, "referenceAllele": "C", "start": 1993 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013229.2:c.617C>G" ], "proteinEffect": { "hgvs": "XP_016868718.1:p.Ser206Ter", "hgvsWellDefined": 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"NP_075598.2:p.Ser530_Arg822delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698627", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447712.7:c.1589C>G" }, "RefSeq": { "hgvs": "NM_023110.3:c.1589C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400162.2:p.Ser530Ter" }, "RefSeq": { "hgvs": "NP_075598.2:p.Ser530Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915993561", "coordinates": [ { "allele": "G", "end": 1884, "referenceAllele": "C", "start": 1883 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174067.2:c.1682C>G" ], "proteinEffect": { "hgvs": "NP_001167538.1:p.Ser561Ter", "hgvsWellDefined": "NP_001167538.1:p.Ser561_Arg853delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnGluTyrLeuAspLeuSerMetProLeuAspGlnTyrSerProSerPheProAspThrArgSerSerThrCysSerSerGlyGluAspSerValPheSerHisGluProLeuProGluGluProCysLeuProArgHisProAlaGlnLeuAlaAsnGlyGlyLeuLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713491" }, { "@id": "http://reg.genome.network/allele/PA2827847260", "coordinates": [ { "allele": "G", "end": 2326, "referenceAllele": "C", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354367.2:c.1583C>G" ], "proteinEffect": { "hgvs": "NP_001341296.1:p.Ser528Ter", "hgvsWellDefined": "NP_001341296.1:p.Ser528_Thr830delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720435" }, { "@id": "http://reg.genome.network/allele/PA2827848326", "coordinates": [ { "allele": "G", "end": 1718, "referenceAllele": "C", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354369.2:c.1577C>G" ], "proteinEffect": { "hgvs": "NP_001341298.1:p.Ser526Ter", "hgvsWellDefined": "NP_001341298.1:p.Ser526_Thr828delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720436" }, { "@id": "http://reg.genome.network/allele/PA2827848799", "coordinates": [ { "allele": "G", "end": 2059, "referenceAllele": "C", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354370.2:c.1316C>G" ], "proteinEffect": { "hgvs": "NP_001341299.1:p.Ser439Ter", "hgvsWellDefined": "NP_001341299.1:p.Ser439_Thr741delinsGluMetGluMetMetLysMetIleGlyLysHisLysAsnIleIleAsnLeuLeuGlyAlaCysThrGlnAspGlyProLeuTyrValIleValGluTyrAlaSerLysGlyAsnLeuArgGluTyrLeuGlnAlaArgArgProProGlyLeuGluTyrCysTyrAsnProSerHisAsnProGluGluGlnLeuSerSerLysAspLeuValSerCysAlaTyrGlnValAlaArgGlyMetGluTyrLeuAlaSerLysLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720437" } ], "type": "nucleotide" }