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"XP_016865283.1:p.Gln402_Val1391delinsAlaGlyLysArgGluGluAspSerGlnSerSerSerGluGluSerAspSerGluGluGluAlaProAlaGlnAlaLysProSerGlyLysAlaProGlnValArgAlaAlaSerAlaProAlaLysGluSerProArgLysGlyAlaAlaProAlaProProArgLysThrGlyProAlaAlaAlaGlnValGlnValGlyLysGlnGluGluAspSerArgSerSerSerGluGluSerAspSerAspArgGluAlaLeuAlaAlaMetAsnAlaAlaGlnValLysProLeuGlyLysSerProGlnValLysProAlaSerThrMetGlyMetGlyProLeuGlyLysGlyAlaGlyProValProProGlyLysValGlyProAlaThrProSerAlaGlnValGlyLysTrpGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564011" }, { "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "C", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009795.2:c.973C>T" ], "proteinEffect": { "hgvs": "XP_016865284.1:p.Gln325Ter", "hgvsWellDefined": "XP_016865284.1:p.Gln325_Ser881delinsAlaGlyLysArgGluGluAspSerGlnSerSerSerGluGluSerAspSerGluGluGluAlaProAlaGlnAlaLysProSerGlyLysAlaProGlnValArgAlaAlaSerAlaProAlaLysGluSerProArgLysGlyAlaAlaProAlaProProArgLysThrGlyProAlaAlaAlaGlnValGlnValGlyLysGlnGluGluAspSerArgSerSerSerGluGluSerAspSerAspArgGluAlaLeuAlaAlaMetAsnAlaAlaGlnValLysProLeuGlyLysSerProGlnValLysProAlaSerThrMetGlyMetGlyProLeuGlyLysGlyAlaGlyProValProProGlyLysValGlyProAlaThrProSerAlaGlnValGlyLysTrpGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564012" }, { "coordinates": [ { "allele": "T", "end": 1251, "referenceAllele": "C", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427778.3:n.1251C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606481" }, { "coordinates": [ { "allele": "T", "end": 1251, "referenceAllele": "C", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427779.2:n.1251C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606482" }, { "coordinates": [ { "allele": "T", "end": 1251, "referenceAllele": "C", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427780.3:n.1251C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606483" }, { "coordinates": [ { "allele": "T", "end": 1023, "referenceAllele": "C", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_000356.4:c.973C>T" ], "proteinEffect": { "hgvs": "NP_000347.2:p.Gln325Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674805" }, { "@id": "http://reg.genome.network/allele/PA2825292961", "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001008657.3:c.1204C>T" ], "proteinEffect": { "hgvs": "NP_001008657.1:p.Gln402Ter", "hgvsWellDefined": "NP_001008657.1:p.Gln402_Ser958delinsAlaGlyLysArgGluGluAspSerGlnSerSerSerGluGluSerAspSerGluGluGluAlaProAlaGlnAlaLysProSerGlyLysAlaProGlnValArgAlaAlaSerAlaProAlaLysGluSerProArgLysGlyAlaAlaProAlaProProArgLysThrGlyProAlaAlaAlaGlnValGlnValGlyLysGlnGluGluAspSerArgSerSerSerGluGluSerAspSerAspArgGluAlaLeuAlaAlaMetAsnAlaAlaGlnValLysProLeuGlyLysSerProGlnValLysProAlaSerThrMetGlyMetGlyProLeuGlyLysGlyAlaGlyProValProProGlyLysValGlyProAlaThrProSerAlaGlnValGlyLysTrpGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675323" }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135244.2:c.1204C>T" ], "proteinEffect": { "hgvs": "NP_001128716.1:p.Gln402Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677300" }, { "coordinates": [ { "allele": "T", "end": 1023, "referenceAllele": "C", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135245.2:c.973C>T" ], "proteinEffect": { "hgvs": "NP_001128717.1:p.Gln325Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677301" }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001195141.2:c.1204C>T" ], "proteinEffect": { "hgvs": "NP_001182070.1:p.Gln402Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS679284" }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001371623.1:c.1204C>T" ], "proteinEffect": { "hgvs": "NP_001358552.1:p.Gln402Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS692996", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643257.2:c.1204C>T" }, "RefSeq": { "hgvs": "NM_001371623.1:c.1204C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493815.1:p.Gln402Ter" }, "RefSeq": { "hgvs": "NP_001358552.1:p.Gln402Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135243.2:c.1204C>T" ], "proteinEffect": { "hgvs": "NP_001128715.1:p.Gln402Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS712433" } ], "type": "nucleotide" }