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"NP_001338427.1:p.Gln282Ter", "hgvsWellDefined": "NP_001338427.1:p.Gln282_Asp412delinsLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysIleProValSerGluValTyrThrValLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688850" }, { "@id": "http://reg.genome.network/allele/PA2827612923", "coordinates": [ { "allele": "T", "end": 1312, "referenceAllele": "C", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351499.2:c.448C>T" ], "proteinEffect": { "hgvs": "NP_001338428.1:p.Gln150Ter", "hgvsWellDefined": "NP_001338428.1:p.Gln150_Tyr329delinsLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688851" }, { "@id": "http://reg.genome.network/allele/PA2827613294", "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351500.2:c.448C>T" ], "proteinEffect": { "hgvs": "NP_001338429.1:p.Gln150Ter", "hgvsWellDefined": "NP_001338429.1:p.Gln150_Tyr329delinsLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688852" }, { "@id": "http://reg.genome.network/allele/PA2827613665", "coordinates": [ { "allele": "T", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351501.2:c.448C>T" ], "proteinEffect": { "hgvs": "NP_001338430.1:p.Gln150Ter", "hgvsWellDefined": "NP_001338430.1:p.Gln150_Tyr329delinsLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688853" }, { "@id": "http://reg.genome.network/allele/PA2827613950", "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "C", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351502.2:c.448C>T" ], "proteinEffect": { "hgvs": "NP_001338431.1:p.Gln150Ter", "hgvsWellDefined": "NP_001338431.1:p.Gln150_Tyr329delinsLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688854" }, { "coordinates": [ { "allele": "T", "end": 995, "endIntronDirection": "-", "endIntronOffset": 4592, "referenceAllele": "C", "start": 995, "startIntronDirection": "-", "startIntronOffset": 4593 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147213.2:n.996-4593C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704538" }, { "coordinates": [ { "allele": "T", "end": 967, "referenceAllele": "C", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147214.2:n.967C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704539" } ], "type": "nucleotide" }