{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397988428", "communityStandardTitle": [ "NM_025099.6(CTC1):c.946C>T (p.Gln316Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6037930", "active": true, "id": "COSM6037930" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3076305[alleleid]", "alleleId": 3076305, "preferredName": "NM_025099.6(CTC1):c.946C>T (p.Gln316Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2913634", "RCV": [ "RCV003647148" ], "variationId": 2913634 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.8139507G>A?assembly=hg19", "id": "chr17:g.8139507G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.8236189G>A?assembly=hg38", "id": "chr17:g.8236189G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1220062851", "rs": 1220062851 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-8236189-G-A?dataset=gnomad_r3", "id": "17-8236189-G-A", "variant": "17:8236189 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-8236189-G-A?dataset=gnomad_r4", "id": "17-8236189-G-A", "variant": "17:8236189 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 8236189, "referenceAllele": "G", "start": 8236188 } ], "hgvs": [ "NC_000017.11:g.8236189G>A", "CM000679.2:g.8236189G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 8139507, "referenceAllele": "G", "start": 8139506 } ], "hgvs": [ "NC_000017.10:g.8139507G>A", "CM000679.1:g.8139507G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 8080232, "referenceAllele": "G", "start": 8080231 } ], "hgvs": [ "NC_000017.9:g.8080232G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 16907, "referenceAllele": "C", "start": 16906 } ], "hgvs": [ "NG_032148.1:g.16907C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005144" }, { "coordinates": [ { "allele": "T", "end": 16907, "referenceAllele": "C", "start": 16906 } ], "hgvs": [ "NG_032148.2:g.16907C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616334" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000580299.2:c.946C>T" ], "proteinEffect": { "hgvs": "ENSP00000462607.2:p.Gln316Ter", "hgvsWellDefined": "ENSP00000462607.2:p.Gln316_Cys1129delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906027" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581729.2:c.946C>T" ], "proteinEffect": { "hgvs": "ENSP00000462720.2:p.Gln316Ter", "hgvsWellDefined": "ENSP00000462720.2:p.Gln316_Cys1140delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906034" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581967.2:n.968C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906036" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "C", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000583254.2:n.360C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906041" }, { "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699849.1:c.49C>T" ], "proteinEffect": { "hgvs": "ENSP00000514647.1:p.Gln17Ter", "hgvsWellDefined": "ENSP00000514647.1:p.Gln17_Cys841delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910721" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "C", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699850.1:n.209C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910722" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699851.1:n.968C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910723" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699852.1:c.946C>T" ], "proteinEffect": { "hgvs": "ENSP00000514648.1:p.Gln316Ter", "hgvsWellDefined": "ENSP00000514648.1:p.Gln316_Gly615delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnArgTrpGlyLeuThrMetLeuProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910724" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699853.1:c.946C>T" ], "proteinEffect": { "hgvs": "ENSP00000514649.1:p.Gln316Ter", "hgvsWellDefined": "ENSP00000514649.1:p.Gln316_Pro1082delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleSerLeuGlnProGlyLeuThrSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910725" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699854.1:n.739C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910726" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699855.1:n.968C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910727" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699856.1:c.946C>T" ], "proteinEffect": { "hgvs": "ENSP00000514650.1:p.Gln316Ter", "hgvsWellDefined": "ENSP00000514650.1:p.Gln316_Ser979delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910728" }, { "coordinates": [ { "allele": "T", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699857.1:n.954C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910729" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699858.1:c.946C>T" ], "proteinEffect": { "hgvs": "ENSP00000514651.1:p.Gln316Ter", "hgvsWellDefined": "ENSP00000514651.1:p.Gln316_Ser410delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgSerArgMetPheThrCysSerSerGlnTrpGluGlyGlyGlnGluGlyGlnCysSerProProAlaSerValAlaProPheCysPheLysAlaSerLeuValArgSerLeuGlyLeuThrHisProValLysProThrGlyProProCysThrSerSerTrpCysGlyAsnValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910730" }, { "coordinates": [ { "allele": "T", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699859.1:c.946C>T" ], "proteinEffect": { "hgvs": "ENSP00000514652.1:p.Gln316Ter", "hgvsWellDefined": "ENSP00000514652.1:p.Gln316_Leu1023delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910731" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699861.1:n.968C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910733" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699862.1:n.833C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910734" }, { "coordinates": [ { "allele": "T", "end": 847, "referenceAllele": "C", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.7:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Gln281Ter", "hgvsWellDefined": "ENSP00000396018.2:p.Gln281_Leu1031delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756234" }, { "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581671.2:n.787C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS760910" }, { "coordinates": [ { "allele": "T", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000643543.1:c.946C>T" ], "proteinEffect": { "hgvs": "ENSP00000494323.1:p.Gln316Ter", "hgvsWellDefined": "ENSP00000494323.1:p.Gln316_Ser410delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgSerArgMetPheThrCysSerSerGlnTrpGluGlyGlyGlnGluGlyGlnCysSerProProAlaSerValAlaProPheCysPheLysAlaSerLeuValArgSerLeuGlyLeuThrHisProValLysProThrGlyProProCysThrSerSerTrpCysGlyAsnValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767338" }, { "coordinates": [ { "allele": "T", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000651323.1:c.946C>T" ], "proteinEffect": { "hgvs": "ENSP00000498499.1:p.Gln316Ter", "hgvsWellDefined": "ENSP00000498499.1:p.Gln316_Cys1217delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771599", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.946C>T" }, "RefSeq": { "hgvs": "NM_025099.6:c.946C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Gln316Ter" }, "RefSeq": { "hgvs": "NP_079375.3:p.Gln316Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000315684.12:c.946C>T" ], "proteinEffect": { "hgvs": "ENSP00000313759.8:p.Gln316Ter", "hgvsWellDefined": "ENSP00000313759.8:p.Gln316_Cys1217delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257118" }, { "coordinates": [ { "allele": "T", "end": 847, "referenceAllele": "C", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.6:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Gln281Ter", "hgvsWellDefined": "ENSP00000396018.2:p.Gln281_Leu1031delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300236" }, { "@id": "http://reg.genome.network/allele/PA2741988138", "coordinates": [ { "allele": "T", "end": 1005, "referenceAllele": "C", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.5:c.946C>T" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Gln316Ter", "hgvsWellDefined": "NP_079375.3:p.Gln316_Cys1217delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038199" }, { "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NR_046431.1:n.900C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS051686" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.2:c.946C>T" ], "proteinEffect": { "hgvs": "XP_006721640.1:p.Gln316Ter", "hgvsWellDefined": "XP_006721640.1:p.Gln316_Cys1174delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074141" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.2:c.946C>T" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Gln316Ter", "hgvsWellDefined": "XP_006721641.1:p.Gln316_Cys1140delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074142" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721579.2:c.946C>T" ], "proteinEffect": { "hgvs": "XP_006721642.1:p.Gln316Ter", "hgvsWellDefined": "XP_006721642.1:p.Gln316_Ser979delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074143" }, { "coordinates": [ { "allele": "T", "end": 884, "referenceAllele": "C", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.1:c.841C>T" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Gln281Ter", "hgvsWellDefined": "XP_011522312.1:p.Gln281_Cys1182delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091141" }, { "coordinates": [ { "allele": "T", "end": 754, "referenceAllele": "C", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.1:c.49C>T" ], "proteinEffect": { "hgvs": "XP_011522313.1:p.Gln17Ter", "hgvsWellDefined": "XP_011522313.1:p.Gln17_Cys918delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091142" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429823.2:n.989C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118501" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429824.2:n.989C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118502" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429825.1:n.989C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118503" }, { "@id": "http://reg.genome.network/allele/PA2741988138", "coordinates": [ { "allele": "T", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.6:c.946C>T" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Gln316Ter", "hgvsWellDefined": "NP_079375.3:p.Gln316_Cys1217delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.946C>T" }, "RefSeq": { "hgvs": "NM_025099.6:c.946C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Gln316Ter" }, "RefSeq": { "hgvs": "NP_079375.3:p.Gln316Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.3:c.946C>T" ], "proteinEffect": { "hgvs": "XP_006721640.1:p.Gln316Ter", "hgvsWellDefined": "XP_006721640.1:p.Gln316_Cys1174delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540328" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.3:c.946C>T" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Gln316Ter", "hgvsWellDefined": "XP_006721641.1:p.Gln316_Cys1140delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540329" }, { "coordinates": [ { "allele": "T", "end": 884, "referenceAllele": "C", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.2:c.841C>T" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Gln281Ter", "hgvsWellDefined": "XP_011522312.1:p.Gln281_Cys1182delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547284" }, { "coordinates": [ { "allele": "T", "end": 754, "referenceAllele": "C", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.2:c.49C>T" ], "proteinEffect": { "hgvs": "XP_011522313.1:p.Gln17Ter", "hgvsWellDefined": "XP_011522313.1:p.Gln17_Cys918delinsGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547285" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752639.1:n.989C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599316" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752640.1:n.989C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599317" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752641.1:n.989C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599318" }, { "coordinates": [ { "allele": "T", "end": 989, 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"type": "nucleotide" }