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"ENSP00000514651.1:p.Arg108_Ser410delinsGluGlnLeuLeuLeuLeuGlyThrLeuThrAspLeuSerAlaAspLeuGluGlnGluCysArgAsnGlySerLeuTyrValArgAspAsnThrGlyValLeuSerCysGluLeuIleAspLeuAspLeuSerTrpLeuGlyHisLeuPheLeuPheProArgTrpSerTyrLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgSerArgMetPheThrCysSerSerGlnTrpGluGlyGlyGlnGluGlyGlnCysSerProProAlaSerValAlaProPheCysPheLysAlaSerLeuValArgSerLeuGlyLeuThrHisProValLysProThrGlyProProCysThrSerSerTrpCysGlyAsnValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910730" }, { "coordinates": [ { "allele": "T", "end": 342, "referenceAllele": "C", "start": 341 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699859.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000514652.1:p.Arg108Ter", "hgvsWellDefined": "ENSP00000514652.1:p.Arg108_Leu1023delinsGluGlnLeuLeuLeuLeuGlyThrLeuThrAspLeuSerAlaAspLeuGluGlnGluCysArgAsnGlySerLeuTyrValArgAspAsnThrGlyValLeuSerCysGluLeuIleAspLeuAspLeuSerTrpLeuGlyHisLeuPheLeuPheProArgTrpSerTyrLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910731" }, { "coordinates": [ { "allele": "T", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699861.1:n.344C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910733" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "C", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699862.1:n.209C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910734" }, { "coordinates": [ { "allele": "T", "end": 328, "referenceAllele": "C", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.7:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Arg108Ter", "hgvsWellDefined": "ENSP00000396018.2:p.Arg108_Leu1031delinsGluGlnLeuLeuLeuLeuGlyThrLeuThrAspLeuSerAlaAspLeuGluGlnGluCysArgAsnGlySerLeuTyrValArgAspAsnThrGlyValLeuSerCysGluLeuIleAspLeuAspLeuSerTrpLeuGlyHisLeuPheLeuPheProArgTrpSerTyrLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756234" }, { "coordinates": [ { "allele": "T", "end": 163, "referenceAllele": "C", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581671.2:n.163C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS760910" }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "C", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000643543.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000494323.1:p.Arg108Ter", "hgvsWellDefined": "ENSP00000494323.1:p.Arg108_Ser410delinsGluGlnLeuLeuLeuLeuGlyThrLeuThrAspLeuSerAlaAspLeuGluGlnGluCysArgAsnGlySerLeuTyrValArgAspAsnThrGlyValLeuSerCysGluLeuIleAspLeuAspLeuSerTrpLeuGlyHisLeuPheLeuPheProArgTrpSerTyrLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgSerArgMetPheThrCysSerSerGlnTrpGluGlyGlyGlnGluGlyGlnCysSerProProAlaSerValAlaProPheCysPheLysAlaSerLeuValArgSerLeuGlyLeuThrHisProValLysProThrGlyProProCysThrSerSerTrpCysGlyAsnValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767338" }, { "coordinates": [ { "allele": "T", "end": 342, "referenceAllele": "C", "start": 341 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000651323.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000498499.1:p.Arg108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS771599", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.322C>T" }, "RefSeq": { "hgvs": "NM_025099.6:c.322C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Arg108Ter" }, "RefSeq": { "hgvs": "NP_079375.3:p.Arg108Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "C", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000315684.12:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000313759.8:p.Arg108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS257118" }, { "coordinates": [ { "allele": "T", "end": 328, "referenceAllele": "C", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.6:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Arg108Ter", "hgvsWellDefined": "ENSP00000396018.2:p.Arg108_Leu1031delinsGluGlnLeuLeuLeuLeuGlyThrLeuThrAspLeuSerAlaAspLeuGluGlnGluCysArgAsnGlySerLeuTyrValArgAspAsnThrGlyValLeuSerCysGluLeuIleAspLeuAspLeuSerTrpLeuGlyHisLeuPheLeuPheProArgTrpSerTyrLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300236" }, { "coordinates": [ { "allele": "T", "end": 163, "referenceAllele": "C", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581671.1:n.163C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS386900" }, { "coordinates": [ { "allele": "T", "end": 265, "referenceAllele": "C", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000584842.1:n.265C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS388408" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.5:c.322C>T" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Arg108Ter" }, "referenceSequence": 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