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"coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000374705.4:c.337C>T" ], "proteinEffect": { "hgvs": "ENSP00000363837.4:p.Gln113Ter", "hgvsWellDefined": "ENSP00000363837.4:p.Gln113Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS270368" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "C", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000448551.6:c.406C>T" ], "proteinEffect": { "hgvs": "ENSP00000399140.2:p.Gln136Ter", "hgvsWellDefined": "ENSP00000399140.2:p.Gln136_Ala430delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysAsnGlnGlnGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299790" }, { "coordinates": [ { "allele": "T", "end": 680, "referenceAllele": "C", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000602526.1:c.*444C>T" ], "proteinEffect": { "hgvs": "ENSP00000473347.1:n.*444C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS398226" }, { "coordinates": [ { "allele": "T", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "ENST00000602661.5:c.406C>T" ], "proteinEffect": { "hgvs": "ENSP00000473540.1:p.Gln136Ter", "hgvsWellDefined": "ENSP00000473540.1:p.Gln136_Tyr461delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS398289" }, { "@id": "http://reg.genome.network/allele/PA2825458694", "coordinates": [ { "allele": "T", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001079802.1:c.406C>T", "LRG_434t1:c.406C>T" ], "proteinEffect": { "hgvs": "NP_001073270.1:p.Gln136Ter", "hgvsWellDefined": "NP_001073270.1:p.Gln136_Tyr461delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010087" }, { "@id": "http://reg.genome.network/allele/PA2826230928", "coordinates": [ { "allele": "T", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001198963.1:c.406C>T" ], "proteinEffect": { "hgvs": "NP_001185892.1:p.Gln136Ter", "hgvsWellDefined": "NP_001185892.1:p.Gln136_Ala430delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysAsnGlnGlnGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016930" }, { "@id": "http://reg.genome.network/allele/PA2829653278", "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_006731.2:c.406C>T", "LRG_434t2:c.406C>T" ], "proteinEffect": { "hgvs": "NP_006722.2:p.Gln136Ter", "hgvsWellDefined": "NP_006722.2:p.Gln136_Tyr461delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031718" }, { "coordinates": [ { "allele": "T", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_006717014.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_006717077.1:p.Gln136Ter", "hgvsWellDefined": "XP_006717077.1:p.Gln136_Asp271delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnIleProValSerGluValTyrThrValLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071949" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518368.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516670.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516670.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085542" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "C", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518369.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516671.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516671.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085543" }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518370.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516672.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516672.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085544" }, { "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518371.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516673.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516673.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085545" }, { "coordinates": [ { "allele": "T", "end": 1170, "referenceAllele": "C", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518372.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516674.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516674.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085546" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518373.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516675.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516675.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085547" }, { "coordinates": [ { "allele": "T", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518374.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516676.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516676.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085548" }, { "coordinates": [ { "allele": "T", "end": 753, "referenceAllele": "C", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518375.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516677.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516677.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085549" }, { "coordinates": [ { "allele": "T", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518376.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516678.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516678.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085550" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518377.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516679.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516679.1:p.Gln136_Leu487delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085551" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518378.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516680.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516680.1:p.Gln136_Leu472delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysAspThrCysPheArgSerLeuHisCysAlaGlyLeuSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085552" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518379.1:c.337C>T" ], "proteinEffect": { "hgvs": "XP_011516681.1:p.Gln113Ter", "hgvsWellDefined": "XP_011516681.1:p.Gln113_Leu465delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085553" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518380.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516682.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516682.1:p.Gln136_Phe460delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085554" }, { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518381.1:c.220C>T" ], "proteinEffect": { "hgvs": "XP_011516683.1:p.Gln74Ter", "hgvsWellDefined": "XP_011516683.1:p.Gln74_Leu426delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085555" }, { "coordinates": [ { "allele": "T", "end": 1078, "referenceAllele": "C", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518382.1:c.220C>T" ], "proteinEffect": { "hgvs": "XP_011516684.1:p.Gln74Ter", "hgvsWellDefined": "XP_011516684.1:p.Gln74_Leu426delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085556" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "C", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518383.1:c.220C>T" ], "proteinEffect": { "hgvs": "XP_011516685.1:p.Gln74Ter", "hgvsWellDefined": "XP_011516685.1:p.Gln74_Leu426delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085557" }, { "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518384.1:c.220C>T" ], "proteinEffect": { "hgvs": "XP_011516686.1:p.Gln74Ter", "hgvsWellDefined": "XP_011516686.1:p.Gln74_Leu426delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085558" }, { "coordinates": [ { "allele": "T", "end": 597, "referenceAllele": "C", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518385.1:c.220C>T" ], "proteinEffect": { "hgvs": "XP_011516687.1:p.Gln74Ter", "hgvsWellDefined": "XP_011516687.1:p.Gln74_Leu426delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085559" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518386.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516688.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516688.1:p.Gln136_Asp412delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysIleProValSerGluValTyrThrValLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085560" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518387.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516689.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516689.1:p.Gln136_Leu400delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085561" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518388.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516690.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516690.1:p.Gln136_Gln396delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheAsnIleGlnIleCysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085562" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518389.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516691.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516691.1:p.Gln136_Arg370delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysCysValLysValPheIlePheProIleGlyArgArgGlnLeuGlyThrIleLeuProGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085563" }, { "coordinates": [ { "allele": "T", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518390.1:c.10C>T" ], "proteinEffect": { "hgvs": "XP_011516692.1:p.Gln4Ter", "hgvsWellDefined": "XP_011516692.1:p.Gln4_Leu356delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085564" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518391.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516693.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516693.1:p.Gln136_Asp271delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnIleProValSerGluValTyrThrValLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085565" }, { "@id": "http://reg.genome.network/allele/PA2827611455", "coordinates": [ { "allele": "T", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351496.1:c.406C>T" ], "proteinEffect": { "hgvs": "NP_001338425.1:p.Gln136Ter", "hgvsWellDefined": "NP_001338425.1:p.Gln136_Tyr461delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520259" }, { "@id": "http://reg.genome.network/allele/PA2827611902", "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351497.1:c.337C>T" ], "proteinEffect": { "hgvs": "NP_001338426.1:p.Gln113Ter", "hgvsWellDefined": "NP_001338426.1:p.Gln113_Tyr438delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520260" }, { "@id": "http://reg.genome.network/allele/PA2827612443", "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351498.1:c.406C>T" ], "proteinEffect": { "hgvs": "NP_001338427.1:p.Gln136Ter", "hgvsWellDefined": "NP_001338427.1:p.Gln136_Asp412delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysIleProValSerGluValTyrThrValLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520261" }, { "@id": "http://reg.genome.network/allele/PA2827612748", "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "C", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351499.1:c.10C>T" ], "proteinEffect": { "hgvs": "NP_001338428.1:p.Gln4Ter", "hgvsWellDefined": "NP_001338428.1:p.Gln4_Tyr329delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520262" }, { "@id": "http://reg.genome.network/allele/PA2827613120", "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351500.1:c.10C>T" ], "proteinEffect": { "hgvs": "NP_001338429.1:p.Gln4Ter", "hgvsWellDefined": "NP_001338429.1:p.Gln4_Tyr329delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520263" }, { "@id": "http://reg.genome.network/allele/PA2827613490", "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351501.1:c.10C>T" ], "proteinEffect": { "hgvs": "NP_001338430.1:p.Gln4Ter", "hgvsWellDefined": "NP_001338430.1:p.Gln4_Tyr329delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520264" }, { "@id": "http://reg.genome.network/allele/PA2499250674", "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351502.1:c.10C>T" ], "proteinEffect": { "hgvs": "NP_001338431.1:p.Gln4Ter", "hgvsWellDefined": "NP_001338431.1:p.Gln4_Tyr329delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520265" }, { "coordinates": [ { "allele": "T", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147213.1:n.622C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530753" }, { "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147214.1:n.530C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530754" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518368.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516670.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516670.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544884" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "C", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518369.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516671.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516671.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544885" }, { "coordinates": [ { "allele": "T", "end": 2306, "referenceAllele": "C", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518370.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516672.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516672.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544886" }, { "coordinates": [ { "allele": "T", "end": 805, "referenceAllele": "C", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518371.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516673.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516673.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544887" }, { "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518373.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516675.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516675.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544888" }, { "coordinates": [ { "allele": "T", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518374.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516676.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516676.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544889" }, { "coordinates": [ { "allele": "T", "end": 849, "referenceAllele": "C", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518375.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516677.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516677.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544890" }, { "coordinates": [ { "allele": "T", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518376.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516678.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516678.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544891" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518378.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516680.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516680.1:p.Gln136_Leu472delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysAspThrCysPheArgSerLeuHisCysAlaGlyLeuSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544892" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518379.2:c.337C>T" ], "proteinEffect": { "hgvs": "XP_011516681.1:p.Gln113Ter", "hgvsWellDefined": "XP_011516681.1:p.Gln113_Leu465delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544893" }, { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518381.3:c.220C>T" ], "proteinEffect": { "hgvs": "XP_011516683.1:p.Gln74Ter", "hgvsWellDefined": "XP_011516683.1:p.Gln74_Leu426delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544894" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518387.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516689.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516689.1:p.Gln136_Leu400delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544895" }, { "coordinates": [ { "allele": "T", "end": 211, "referenceAllele": "C", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518390.2:c.10C>T" ], "proteinEffect": { "hgvs": "XP_011516692.1:p.Gln4Ter", "hgvsWellDefined": "XP_011516692.1:p.Gln4_Leu356delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544896" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_011518391.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011516693.1:p.Gln136Ter", "hgvsWellDefined": "XP_011516693.1:p.Gln136_Asp271delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnIleProValSerGluValTyrThrValLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544897" }, { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014462.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_016869951.1:p.Gln136Ter", "hgvsWellDefined": "XP_016869951.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567427" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "C", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014463.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_016869952.1:p.Gln136Ter", "hgvsWellDefined": "XP_016869952.1:p.Gln136_Leu488delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567428" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014464.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_016869953.1:p.Gln136Ter", "hgvsWellDefined": "XP_016869953.1:p.Gln136_Thr468delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrAspTrpTyrPheArgSerLeuLeuGlyArgGlyProIleLeuSerThrGlyValLysLysArgProTrpProGlnGluHisArgTyrLysAlaCysSerLeuGlyArgGluTyrValGlyLeuLysHisAsnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567429" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "C", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014465.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_016869954.1:p.Gln136Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS567430" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "C", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014467.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_016869956.1:p.Gln136Ter", "hgvsWellDefined": "XP_016869956.1:p.Gln136_Tyr461delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567431" }, { "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "C", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014468.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_016869957.1:p.Gln136Ter", "hgvsWellDefined": "XP_016869957.1:p.Gln136_Tyr461delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567432" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014469.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_016869958.1:p.Gln136Ter", "hgvsWellDefined": "XP_016869958.1:p.Gln136_Ser458delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrAspTrpTyrPheArgSerLeuLeuGlyArgGlyProIleLeuSerThrGlyValLysLysArgProTrpProGlnGluHisArgTrpArgLeuThrGlyAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567433" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014470.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_016869959.1:p.Gln136Ter", "hgvsWellDefined": "XP_016869959.1:p.Gln136_Val448delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrAspAspLeuGluAspAspSerLeuIleValGlyGluTrpLysSerLeuLeuTrpSerProAsnTrpAlaThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567434" }, { "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014472.2:c.220C>T" ], "proteinEffect": { "hgvs": "XP_016869961.1:p.Gln74Ter", "hgvsWellDefined": "XP_016869961.1:p.Gln74_Leu426delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567435" }, { "coordinates": [ { "allele": "T", "end": 2772, "referenceAllele": "C", "start": 2771 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014473.2:c.220C>T" ], "proteinEffect": { "hgvs": "XP_016869962.1:p.Gln74Ter", "hgvsWellDefined": "XP_016869962.1:p.Gln74_Leu426delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567436" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XM_017014475.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_016869964.1:p.Gln136Ter", "hgvsWellDefined": "XP_016869964.1:p.Gln136_Leu400delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysHisProAsnLeuProValIleLysValMetAsnIleIleThrMetProProGluCysGluValLeuAsnSerThrSerHisPheLeuLysMetLeuProArgPheIleTrpPheAlaSerPheLeuProIleLeuAsnGlnLeuValTrpValGluAlaArgSerLeuLysGlyIlePheTyrHisLysThrArgSerValIleSerSerLysLeuProThrIleIleThrPheLeuAlaArgHisSerGlySerCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567437" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746242.2:n.770C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594595" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746243.2:n.770C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594596" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746244.2:n.770C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594597" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "C", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746245.1:n.620C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594598" }, { "coordinates": [ { "allele": "T", "end": 1713, "referenceAllele": "C", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_001746248.1:n.1713C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594599" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "C", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "XR_002956770.1:n.620C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602908" }, { "@id": "http://reg.genome.network/allele/PA2825458694", "coordinates": [ { "allele": "T", "end": 621, "referenceAllele": "C", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001079802.2:c.406C>T" ], "proteinEffect": { "hgvs": 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"NP_001073270.1:p.Gln136_Tyr461delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676218", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357998.10:c.406C>T" }, "RefSeq": { "hgvs": "NM_001079802.2:c.406C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350687.6:p.Gln136Ter" }, "RefSeq": { "hgvs": "NP_001073270.1:p.Gln136Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826230928", "coordinates": [ { "allele": "T", "end": 621, "referenceAllele": "C", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001198963.2:c.406C>T" ], "proteinEffect": { "hgvs": "NP_001185892.1:p.Gln136Ter", "hgvsWellDefined": "NP_001185892.1:p.Gln136_Ala430delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysAsnGlnGlnGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679465" }, { "@id": "http://reg.genome.network/allele/PA2827611455", "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351496.2:c.406C>T" ], "proteinEffect": { "hgvs": "NP_001338425.1:p.Gln136Ter", "hgvsWellDefined": "NP_001338425.1:p.Gln136_Tyr461delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688848" }, { "@id": "http://reg.genome.network/allele/PA2827611902", "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351497.2:c.337C>T" ], "proteinEffect": { "hgvs": "NP_001338426.1:p.Gln113Ter", "hgvsWellDefined": "NP_001338426.1:p.Gln113_Tyr438delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688849" }, { "@id": "http://reg.genome.network/allele/PA2827612443", "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351498.2:c.406C>T" ], "proteinEffect": { "hgvs": "NP_001338427.1:p.Gln136Ter", "hgvsWellDefined": "NP_001338427.1:p.Gln136_Asp412delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysIleProValSerGluValTyrThrValLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688850" }, { "@id": "http://reg.genome.network/allele/PA2827612748", "coordinates": [ { "allele": "T", "end": 874, "referenceAllele": "C", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351499.2:c.10C>T" ], "proteinEffect": { "hgvs": "NP_001338428.1:p.Gln4Ter", "hgvsWellDefined": "NP_001338428.1:p.Gln4_Tyr329delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688851" }, { "@id": "http://reg.genome.network/allele/PA2827613120", "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351500.2:c.10C>T" ], "proteinEffect": { "hgvs": "NP_001338429.1:p.Gln4Ter", "hgvsWellDefined": "NP_001338429.1:p.Gln4_Tyr329delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688852" }, { "@id": "http://reg.genome.network/allele/PA2827613490", "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351501.2:c.10C>T" ], "proteinEffect": { "hgvs": "NP_001338430.1:p.Gln4Ter", "hgvsWellDefined": "NP_001338430.1:p.Gln4_Tyr329delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688853" }, { "@id": "http://reg.genome.network/allele/PA2499250674", "coordinates": [ { "allele": "T", "end": 967, "referenceAllele": "C", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351502.2:c.10C>T" ], "proteinEffect": { "hgvs": "NP_001338431.1:p.Gln4Ter", "hgvsWellDefined": "NP_001338431.1:p.Gln4_Tyr329delinsCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688854" }, { "coordinates": [ { "allele": "T", "end": 621, "referenceAllele": "C", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147213.2:n.621C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704538" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147214.2:n.529C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704539" } ], "type": "nucleotide" }