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"ENSP00000396018.2:p.Gln834_Leu1031delinsAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300236" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000578240.1:n.833C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS385260" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000578441.5:n.106C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS385362" }, { "coordinates": [ { "allele": "T", "end": 371, "endIntronDirection": "+", "endIntronOffset": 386, "referenceAllele": "C", "start": 371, "startIntronDirection": "+", "startIntronOffset": 385 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000578537.1:c.371+386C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS385410" }, { "@id": "http://reg.genome.network/allele/PA2580461095", "coordinates": [ { "allele": "T", "end": 2664, "referenceAllele": "C", "start": 2663 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.5:c.2605C>T" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Gln869Ter", "hgvsWellDefined": "NP_079375.3:p.Gln869_Cys1217delinsAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038199" }, { "coordinates": [ { "allele": "T", "end": 2559, "referenceAllele": "C", "start": 2558 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NR_046431.1:n.2559C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS051686" }, { "coordinates": [ { "allele": "T", "end": 2519, "referenceAllele": "C", "start": 2518 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.2:c.2476C>T" ], "proteinEffect": { "hgvs": "XP_006721640.1:p.Gln826Ter", "hgvsWellDefined": "XP_006721640.1:p.Gln826_Cys1174delinsAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074141" }, { "coordinates": [ { "allele": "T", "end": 2648, "referenceAllele": "C", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.2:c.2605C>T" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Gln869Ter", "hgvsWellDefined": "XP_006721641.1:p.Gln869_Cys1140delinsAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074142" }, { "coordinates": [ { "allele": "T", "end": 2648, "referenceAllele": "C", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721579.2:c.2605C>T" ], "proteinEffect": { "hgvs": "XP_006721642.1:p.Gln869Ter", "hgvsWellDefined": "XP_006721642.1:p.Gln869_Ser979delinsAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074143" }, { "coordinates": [ { "allele": "T", "end": 2543, "referenceAllele": "C", "start": 2542 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.1:c.2500C>T" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Gln834Ter", "hgvsWellDefined": "XP_011522312.1:p.Gln834_Cys1182delinsAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091141" }, { "coordinates": [ { "allele": "T", "end": 2413, "referenceAllele": "C", "start": 2412 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.1:c.1708C>T" ], "proteinEffect": { "hgvs": "XP_011522313.1:p.Gln570Ter", "hgvsWellDefined": "XP_011522313.1:p.Gln570_Cys918delinsAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091142" }, { "coordinates": [ { "allele": "T", "end": 2648, "referenceAllele": "C", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429823.2:n.2648C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118501" }, { "coordinates": [ { "allele": "T", "end": 2648, "referenceAllele": "C", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429824.2:n.2648C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118502" }, { "coordinates": [ { "allele": "T", "end": 2518, "endIntronDirection": "+", "endIntronOffset": 386, "referenceAllele": "C", "start": 2518, "startIntronDirection": "+", "startIntronOffset": 385 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429825.1:n.2518+386C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118503" }, { "@id": "http://reg.genome.network/allele/PA2580461095", "coordinates": [ { "allele": "T", "end": 2625, "referenceAllele": "C", "start": 2624 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.6:c.2605C>T" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Gln869Ter", "hgvsWellDefined": "NP_079375.3:p.Gln869_Cys1217delinsAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.2605C>T" }, "RefSeq": { "hgvs": "NM_025099.6:c.2605C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Gln869Ter" }, "RefSeq": { "hgvs": "NP_079375.3:p.Gln869Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2519, "referenceAllele": "C", "start": 2518 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.3:c.2476C>T" ], "proteinEffect": { "hgvs": "XP_006721640.1:p.Gln826Ter", "hgvsWellDefined": "XP_006721640.1:p.Gln826_Cys1174delinsAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540328" }, { "coordinates": [ { "allele": "T", "end": 2648, "referenceAllele": "C", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.3:c.2605C>T" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Gln869Ter", "hgvsWellDefined": "XP_006721641.1:p.Gln869_Cys1140delinsAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540329" }, { "coordinates": [ { "allele": "T", "end": 2543, "referenceAllele": "C", "start": 2542 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.2:c.2500C>T" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Gln834Ter", "hgvsWellDefined": "XP_011522312.1:p.Gln834_Cys1182delinsAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547284" }, { "coordinates": [ { "allele": "T", "end": 2413, "referenceAllele": "C", "start": 2412 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.2:c.1708C>T" ], "proteinEffect": { "hgvs": "XP_011522313.1:p.Gln570Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS604200" }, { "coordinates": [ { "allele": "T", "end": 2648, "referenceAllele": "C", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429823.3:n.2648C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606713" }, { "coordinates": [ { "allele": "T", "end": 2648, "referenceAllele": "C", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429824.3:n.2648C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606714" }, { "coordinates": [ { "allele": "T", "end": 2520, "referenceAllele": "C", "start": 2519 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NR_046431.2:n.2520C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702498" } ], "type": "nucleotide" }