{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397988709", "communityStandardTitle": [ "NM_025099.6(CTC1):c.880C>T (p.Gln294Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1429529[alleleid]", "alleleId": 1429529, "preferredName": "NM_025099.6(CTC1):c.880C>T (p.Gln294Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1451275", "RCV": [ "RCV002035253" ], "variationId": 1451275 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.8139573G>A?assembly=hg19", "id": "chr17:g.8139573G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.8236255G>A?assembly=hg38", "id": "chr17:g.8236255G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2151523798", "rs": 2151523798 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 8236255, "referenceAllele": "G", "start": 8236254 } ], "hgvs": [ "NC_000017.11:g.8236255G>A", "CM000679.2:g.8236255G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 8139573, "referenceAllele": "G", "start": 8139572 } ], "hgvs": [ "NC_000017.10:g.8139573G>A", "CM000679.1:g.8139573G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 8080298, "referenceAllele": "G", "start": 8080297 } ], "hgvs": [ "NC_000017.9:g.8080298G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 16841, "referenceAllele": "C", "start": 16840 } ], "hgvs": [ "NG_032148.1:g.16841C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005144" }, { "coordinates": [ { "allele": "T", "end": 16841, "referenceAllele": "C", "start": 16840 } ], "hgvs": [ "NG_032148.2:g.16841C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616334" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000580299.2:c.880C>T" ], "proteinEffect": { "hgvs": "ENSP00000462607.2:p.Gln294Ter", "hgvsWellDefined": 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"ENSP00000462720.2:p.Gln294_Cys1140delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906034" }, { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581967.2:n.902C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906036" }, { "coordinates": [ { "allele": "T", "end": 294, "referenceAllele": "C", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000583254.2:n.294C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906041" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699849.1:c.-18C>T" ], "proteinEffect": { "hgvs": "ENSP00000514647.1:n.-18C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910721" }, { "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699850.1:n.143C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910722" }, { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699851.1:n.902C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910723" }, { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699852.1:c.880C>T" ], "proteinEffect": { "hgvs": "ENSP00000514648.1:p.Gln294Ter", "hgvsWellDefined": "ENSP00000514648.1:p.Gln294_Gly615delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnArgTrpGlyLeuThrMetLeuProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910724" }, { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699853.1:c.880C>T" ], "proteinEffect": { "hgvs": "ENSP00000514649.1:p.Gln294Ter", "hgvsWellDefined": "ENSP00000514649.1:p.Gln294_Pro1082delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleSerLeuGlnProGlyLeuThrSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910725" }, { "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699854.1:n.673C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910726" }, { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699855.1:n.902C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910727" }, { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699856.1:c.880C>T" ], "proteinEffect": { "hgvs": "ENSP00000514650.1:p.Gln294Ter", "hgvsWellDefined": "ENSP00000514650.1:p.Gln294_Ser979delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910728" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699857.1:n.888C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910729" }, { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699858.1:c.880C>T" ], "proteinEffect": { "hgvs": "ENSP00000514651.1:p.Gln294Ter", "hgvsWellDefined": "ENSP00000514651.1:p.Gln294_Ser410delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgSerArgMetPheThrCysSerSerGlnTrpGluGlyGlyGlnGluGlyGlnCysSerProProAlaSerValAlaProPheCysPheLysAlaSerLeuValArgSerLeuGlyLeuThrHisProValLysProThrGlyProProCysThrSerSerTrpCysGlyAsnValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910730" }, { "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699859.1:c.880C>T" ], "proteinEffect": { "hgvs": "ENSP00000514652.1:p.Gln294Ter", "hgvsWellDefined": "ENSP00000514652.1:p.Gln294_Leu1023delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910731" }, { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699861.1:n.902C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910733" }, { "coordinates": [ { "allele": "T", "end": 767, "referenceAllele": "C", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699862.1:n.767C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910734" }, { "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.7:c.775C>T" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Gln259Ter", "hgvsWellDefined": "ENSP00000396018.2:p.Gln259_Leu1031delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756234" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581671.2:n.721C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS760910" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000643543.1:c.880C>T" ], "proteinEffect": { "hgvs": "ENSP00000494323.1:p.Gln294Ter", "hgvsWellDefined": "ENSP00000494323.1:p.Gln294_Ser410delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgSerArgMetPheThrCysSerSerGlnTrpGluGlyGlyGlnGluGlyGlnCysSerProProAlaSerValAlaProPheCysPheLysAlaSerLeuValArgSerLeuGlyLeuThrHisProValLysProThrGlyProProCysThrSerSerTrpCysGlyAsnValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767338" }, { "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000651323.1:c.880C>T" ], "proteinEffect": { "hgvs": "ENSP00000498499.1:p.Gln294Ter", "hgvsWellDefined": "ENSP00000498499.1:p.Gln294_Cys1217delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771599", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.880C>T" }, "RefSeq": { "hgvs": "NM_025099.6:c.880C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Gln294Ter" }, "RefSeq": { "hgvs": "NP_079375.3:p.Gln294Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000315684.12:c.880C>T" ], "proteinEffect": { "hgvs": "ENSP00000313759.8:p.Gln294Ter", "hgvsWellDefined": "ENSP00000313759.8:p.Gln294_Cys1217delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257118" }, { "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.6:c.775C>T" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Gln259Ter", "hgvsWellDefined": "ENSP00000396018.2:p.Gln259_Leu1031delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300236" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581671.1:n.721C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS386900" }, { "@id": "http://reg.genome.network/allele/PA2573285339", "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.5:c.880C>T" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Gln294Ter", "hgvsWellDefined": "NP_079375.3:p.Gln294_Cys1217delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038199" }, { "coordinates": [ { "allele": "T", "end": 834, "referenceAllele": "C", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NR_046431.1:n.834C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS051686" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.2:c.880C>T" ], "proteinEffect": { "hgvs": "XP_006721640.1:p.Gln294Ter", "hgvsWellDefined": "XP_006721640.1:p.Gln294_Cys1174delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074141" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.2:c.880C>T" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Gln294Ter", "hgvsWellDefined": "XP_006721641.1:p.Gln294_Cys1140delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074142" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721579.2:c.880C>T" ], "proteinEffect": { "hgvs": "XP_006721642.1:p.Gln294Ter", "hgvsWellDefined": "XP_006721642.1:p.Gln294_Ser979delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074143" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.1:c.775C>T" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Gln259Ter", "hgvsWellDefined": "XP_011522312.1:p.Gln259_Cys1182delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091141" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.1:c.-18C>T" ], "proteinEffect": { "hgvs": "XP_011522313.1:n.-18C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS091142" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429823.2:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118501" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429824.2:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118502" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429825.1:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118503" }, { "@id": "http://reg.genome.network/allele/PA2573285339", "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.6:c.880C>T" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Gln294Ter", "hgvsWellDefined": "NP_079375.3:p.Gln294_Cys1217delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.880C>T" }, "RefSeq": { "hgvs": "NM_025099.6:c.880C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Gln294Ter" }, "RefSeq": { "hgvs": "NP_079375.3:p.Gln294Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.3:c.880C>T" ], "proteinEffect": { "hgvs": "XP_006721640.1:p.Gln294Ter", "hgvsWellDefined": "XP_006721640.1:p.Gln294_Cys1174delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540328" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.3:c.880C>T" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Gln294Ter", "hgvsWellDefined": "XP_006721641.1:p.Gln294_Cys1140delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540329" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.2:c.775C>T" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Gln259Ter", "hgvsWellDefined": "XP_011522312.1:p.Gln259_Cys1182delinsArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547284" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.2:c.-18C>T" ], "proteinEffect": { "hgvs": "XP_011522313.1:n.-18C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS547285" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752639.1:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599316" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752640.1:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599317" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752641.1:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599318" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752642.1:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599319" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752643.1:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599320" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752644.1:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599321" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_002958073.1:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604200" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429823.3:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606713" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429824.3:n.923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606714" }, { "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "C", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NR_046431.2:n.795C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702498" } ], "type": "nucleotide" }