{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8372440", "communityStandardTitle": [ "NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=572478[alleleid]", "alleleId": 572478, "preferredName": "NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/576930", "RCV": [ "RCV000699564" ], "variationId": 576930 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-8139169-G-A", "id": "17-8139169-G-A", "variant": "17:8139169 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.8139169G>A?assembly=hg19", "id": "chr17:g.8139169G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.8235851G>A?assembly=hg38", "id": "chr17:g.8235851G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/764019241", "rs": 764019241 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-8139169-G-A?dataset=gnomad_r2_1", "id": "17-8139169-G-A", "variant": "17:8139169 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-8235851-G-A?dataset=gnomad_r3", "id": "17-8235851-G-A", "variant": "17:8235851 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-8235851-G-A?dataset=gnomad_r4", "id": "17-8235851-G-A", "variant": "17:8235851 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 8235851, "referenceAllele": "G", "start": 8235850 } ], "hgvs": [ "NC_000017.11:g.8235851G>A", "CM000679.2:g.8235851G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 8139169, "referenceAllele": "G", "start": 8139168 } ], "hgvs": [ "NC_000017.10:g.8139169G>A", "CM000679.1:g.8139169G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 8079894, "referenceAllele": "G", "start": 8079893 } ], "hgvs": [ "NC_000017.9:g.8079894G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 17245, "referenceAllele": "C", "start": 17244 } ], "hgvs": [ "NG_032148.1:g.17245C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005144" }, { "coordinates": [ { "allele": "T", "end": 17245, "referenceAllele": "C", "start": 17244 } ], "hgvs": [ "NG_032148.2:g.17245C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616334" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000580299.2:c.1186C>T" ], "proteinEffect": { "hgvs": "ENSP00000462607.2:p.Arg396Ter", "hgvsWellDefined": "ENSP00000462607.2:p.Arg396_Cys1129delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906027" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581729.2:c.1186C>T" ], "proteinEffect": { "hgvs": "ENSP00000462720.2:p.Arg396Ter", "hgvsWellDefined": "ENSP00000462720.2:p.Arg396_Cys1140delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906034" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581967.2:n.1208C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906036" }, { "coordinates": [ { "allele": "T", "end": 698, "referenceAllele": "C", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000583254.2:n.698C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906041" }, { "coordinates": [ { "allele": "T", "end": 1027, "referenceAllele": "C", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699849.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000514647.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000514647.1:p.Arg97_Cys841delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910721" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699850.1:n.449C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910722" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699851.1:n.1208C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910723" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699852.1:c.1186C>T" ], "proteinEffect": { "hgvs": "ENSP00000514648.1:p.Arg396Ter", "hgvsWellDefined": "ENSP00000514648.1:p.Arg396_Gly615delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnArgTrpGlyLeuThrMetLeuProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910724" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699853.1:c.1186C>T" ], "proteinEffect": { "hgvs": "ENSP00000514649.1:p.Arg396Ter", "hgvsWellDefined": "ENSP00000514649.1:p.Arg396_Pro1082delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleSerLeuGlnProGlyLeuThrSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910725" }, { "coordinates": [ { "allele": "T", "end": 979, "referenceAllele": "C", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699854.1:n.979C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910726" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699855.1:n.1208C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910727" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699856.1:c.1186C>T" ], "proteinEffect": { "hgvs": "ENSP00000514650.1:p.Arg396Ter", "hgvsWellDefined": "ENSP00000514650.1:p.Arg396_Ser979delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910728" }, { "coordinates": [ { "allele": "T", "end": 1194, "referenceAllele": "C", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699857.1:n.1194C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910729" }, { "coordinates": [ { "allele": "T", "end": 1074, "endIntronDirection": "+", "endIntronOffset": 232, "referenceAllele": "C", "start": 1074, "startIntronDirection": "+", "startIntronOffset": 231 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699858.1:c.1052+232C>T" ], "proteinEffect": { "hgvs": "ENSP00000514651.1:n.1052+232C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910730" }, { "coordinates": [ { "allele": "T", "end": 1097, "endIntronDirection": "+", "endIntronOffset": 207, "referenceAllele": "C", "start": 1097, "startIntronDirection": "+", "startIntronOffset": 206 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699859.1:c.1077+207C>T" ], "proteinEffect": { "hgvs": "ENSP00000514652.1:n.1077+207C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910731" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699861.1:n.1208C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910733" }, { "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699862.1:n.1073C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910734" }, { "coordinates": [ { "allele": "T", "end": 1087, "referenceAllele": "C", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.7:c.1081C>T" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Arg361Ter", "hgvsWellDefined": "ENSP00000396018.2:p.Arg361_Leu1031delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756234" }, { "coordinates": [ { "allele": "T", "end": 1027, "referenceAllele": "C", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581671.2:n.1027C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS760910" }, { "coordinates": [ { "allele": "T", "end": 1060, "endIntronDirection": "+", "endIntronOffset": 232, "referenceAllele": "C", "start": 1060, "startIntronDirection": "+", "startIntronOffset": 231 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000643543.1:c.1052+232C>T" ], "proteinEffect": { "hgvs": "ENSP00000494323.1:n.1052+232C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767338" }, { "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "C", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000651323.1:c.1186C>T" ], "proteinEffect": { "hgvs": "ENSP00000498499.1:p.Arg396Ter", "hgvsWellDefined": "ENSP00000498499.1:p.Arg396_Cys1217delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771599", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.1186C>T" }, "RefSeq": { "hgvs": "NM_025099.6:c.1186C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Arg396Ter" }, "RefSeq": { "hgvs": "NP_079375.3:p.Arg396Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1194, "referenceAllele": "C", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000315684.12:c.1186C>T" ], "proteinEffect": { "hgvs": "ENSP00000313759.8:p.Arg396Ter", "hgvsWellDefined": "ENSP00000313759.8:p.Arg396_Cys1217delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257118" }, { "coordinates": [ { "allele": "T", "end": 1087, "referenceAllele": "C", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.6:c.1081C>T" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Arg361Ter", "hgvsWellDefined": "ENSP00000396018.2:p.Arg361_Leu1031delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300236" }, { "@id": "http://reg.genome.network/allele/PA891855416", "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "C", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.5:c.1186C>T" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Arg396Ter", "hgvsWellDefined": "NP_079375.3:p.Arg396_Cys1217delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038199" }, { "coordinates": [ { "allele": "T", "end": 1140, "referenceAllele": "C", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NR_046431.1:n.1140C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS051686" }, { "coordinates": [ { "allele": "T", "end": 1120, "endIntronDirection": "+", "endIntronOffset": 207, "referenceAllele": "C", "start": 1120, "startIntronDirection": "+", "startIntronOffset": 206 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.2:c.1077+207C>T" ], "proteinEffect": { "hgvs": "XP_006721640.1:n.1077+207C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS074141" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.2:c.1186C>T" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Arg396Ter", "hgvsWellDefined": "XP_006721641.1:p.Arg396_Cys1140delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074142" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721579.2:c.1186C>T" ], "proteinEffect": { "hgvs": "XP_006721642.1:p.Arg396Ter", "hgvsWellDefined": "XP_006721642.1:p.Arg396_Ser979delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074143" }, { "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "C", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.1:c.1081C>T" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Arg361Ter", "hgvsWellDefined": "XP_011522312.1:p.Arg361_Cys1182delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091141" }, { "coordinates": [ { "allele": "T", "end": 994, "referenceAllele": "C", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.1:c.289C>T" ], "proteinEffect": { "hgvs": "XP_011522313.1:p.Arg97Ter", "hgvsWellDefined": "XP_011522313.1:p.Arg97_Cys918delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091142" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429823.2:n.1229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118501" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429824.2:n.1229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118502" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429825.1:n.1229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118503" }, { "@id": "http://reg.genome.network/allele/PA891855416", "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "C", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.6:c.1186C>T" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Arg396Ter", "hgvsWellDefined": "NP_079375.3:p.Arg396_Cys1217delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.1186C>T" }, "RefSeq": { "hgvs": "NM_025099.6:c.1186C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Arg396Ter" }, "RefSeq": { "hgvs": "NP_079375.3:p.Arg396Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1120, "endIntronDirection": "+", "endIntronOffset": 207, "referenceAllele": "C", "start": 1120, "startIntronDirection": "+", "startIntronOffset": 206 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.3:c.1077+207C>T" ], "proteinEffect": { "hgvs": "XP_006721640.1:n.1077+207C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540328" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.3:c.1186C>T" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Arg396Ter", "hgvsWellDefined": "XP_006721641.1:p.Arg396_Cys1140delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540329" }, { "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "C", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.2:c.1081C>T" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Arg361Ter", "hgvsWellDefined": "XP_011522312.1:p.Arg361_Cys1182delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547284" }, { "coordinates": [ { "allele": "T", "end": 994, "referenceAllele": "C", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.2:c.289C>T" ], "proteinEffect": { "hgvs": "XP_011522313.1:p.Arg97Ter", "hgvsWellDefined": "XP_011522313.1:p.Arg97_Cys918delinsProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547285" }, { "coordinates": [ { "allele": "T", "end": 1120, "endIntronDirection": "+", "endIntronOffset": 207, "referenceAllele": "C", "start": 1120, "startIntronDirection": "+", "startIntronOffset": 206 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752639.1:n.1120+207C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599316" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752640.1:n.1229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599317" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752641.1:n.1229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599318" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752642.1:n.1229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599319" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752643.1:n.1229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599320" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752644.1:n.1229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599321" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_002958073.1:n.1229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604200" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429823.3:n.1229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606713" }, { "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429824.3:n.1229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606714" }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "C", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NR_046431.2:n.1101C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702498" } ], "type": "nucleotide" }