{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA236243", "communityStandardTitle": [ "NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189005[alleleid]", "alleleId": 189005, "preferredName": "NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191202", "RCV": [ "RCV000171388", "RCV003987414" ], "variationId": 191202 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.149758969C>T?assembly=hg19", "id": "chr5:g.149758969C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.150379406C>T?assembly=hg38", "id": "chr5:g.150379406C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786205575", "rs": 786205575 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 150379406, "referenceAllele": "C", "start": 150379405 } ], "hgvs": [ "NC_000005.10:g.150379406C>T", "CM000667.2:g.150379406C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 149758969, "referenceAllele": "C", "start": 149758968 } ], "hgvs": [ "NC_000005.9:g.149758969C>T", "CM000667.1:g.149758969C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 149739162, "referenceAllele": "C", "start": 149739161 } ], "hgvs": [ "NC_000005.8:g.149739162C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 26768, "referenceAllele": "C", "start": 26767 } ], "hgvs": [ "NG_011341.1:g.26768C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001706" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2684, "referenceAllele": "C", "start": 2683 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000427724.7:c.2656C>T" ], "proteinEffect": { "hgvs": "ENSP00000390717.3:p.Gln886Ter", "hgvsWellDefined": "ENSP00000390717.3:p.Gln886_Val1450delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755194" }, { "coordinates": [ { "allele": "T", "end": 2699, "referenceAllele": "C", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000513538.2:c.2656C>T" ], "proteinEffect": { "hgvs": "ENSP00000422567.2:p.Gln886Ter", "hgvsWellDefined": "ENSP00000422567.2:p.Gln886_Ser994delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758325" }, { "coordinates": [ { "allele": "T", "end": 2706, "referenceAllele": "C", "start": 2705 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000643257.2:c.2656C>T" ], "proteinEffect": { "hgvs": "ENSP00000493815.1:p.Gln886Ter", "hgvsWellDefined": "ENSP00000493815.1:p.Gln886_Val1489delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767180", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643257.2:c.2656C>T" }, "RefSeq": { "hgvs": "NM_001371623.1:c.2656C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493815.1:p.Gln886Ter" }, "RefSeq": { "hgvs": "NP_001358552.1:p.Gln886Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2543, "referenceAllele": "C", "start": 2542 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000650162.1:c.2425C>T" ], "proteinEffect": { "hgvs": "ENSP00000497075.1:p.Gln809Ter", "hgvsWellDefined": "ENSP00000497075.1:p.Gln809_Ser1359del" }, "referenceSequence": "http://reg.genome.network/refseq/RS770970" }, { "coordinates": [ { "allele": "T", "end": 1944, "referenceAllele": "C", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000674413.1:c.1944C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774383" }, { "coordinates": [ { "allele": "T", "end": 2500, "referenceAllele": "C", "start": 2499 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000323668.11:c.2425C>T" ], "proteinEffect": { "hgvs": "ENSP00000325223.6:p.Gln809Ter", "hgvsWellDefined": "ENSP00000325223.6:p.Gln809_Val1411delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258237" }, { "coordinates": [ { "allele": "T", "end": 2764, "referenceAllele": "C", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000377797.7:c.2656C>T" ], "proteinEffect": { "hgvs": "ENSP00000367028.4:p.Gln886Ter", "hgvsWellDefined": "ENSP00000367028.4:p.Gln886_Val1488delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271737" }, { "coordinates": [ { "allele": "T", "end": 2685, "referenceAllele": "C", "start": 2684 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000394269.7:c.2656C>T" ], "proteinEffect": { "hgvs": "ENSP00000377811.3:p.Gln886Ter", "hgvsWellDefined": "ENSP00000377811.3:p.Gln886_Ser958delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276088" }, { "coordinates": [ { "allele": "T", "end": 2684, "referenceAllele": "C", "start": 2683 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000427724.6:c.2656C>T" ], "proteinEffect": { "hgvs": "ENSP00000390717.2:p.Gln886Ter", "hgvsWellDefined": "ENSP00000390717.2:p.Gln886Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289839" }, { "coordinates": [ { "allele": "T", "end": 2689, "referenceAllele": "C", "start": 2688 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000439160.6:c.2656C>T" ], "proteinEffect": { "hgvs": "ENSP00000406888.2:p.Gln886Ter", "hgvsWellDefined": "ENSP00000406888.2:p.Gln886_Val1451delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295291" }, { "coordinates": [ { "allele": "T", "end": 2506, "referenceAllele": "C", "start": 2505 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000445265.6:c.2425C>T" ], "proteinEffect": { "hgvs": "ENSP00000409944.2:p.Gln809Ter", "hgvsWellDefined": "ENSP00000409944.2:p.Gln809_Val1412delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298204" }, { "coordinates": [ { "allele": "T", "end": 2656, "referenceAllele": "C", "start": 2655 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000504761.6:c.2656C>T" ], "proteinEffect": { "hgvs": "ENSP00000421655.2:p.Gln886Ter", "hgvsWellDefined": "ENSP00000421655.2:p.Gln886_Val1488delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336728" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000506063.1:n.411C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS337687" }, { "coordinates": [ { "allele": "T", "end": 131, "referenceAllele": "C", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000506767.1:c.131C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS338237" }, { "coordinates": [ { "allele": "T", "end": 2656, "referenceAllele": "C", "start": 2655 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000513346.5:c.2656C>T" ], "proteinEffect": { "hgvs": "ENSP00000427484.1:p.Gln886Ter", "hgvsWellDefined": "ENSP00000427484.1:p.Gln886_Val1488delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343111" }, { "coordinates": [ { "allele": "T", "end": 1456, "referenceAllele": "C", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000514442.5:n.1456C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS343923" }, { "coordinates": [ { "allele": "T", "end": 3910, "referenceAllele": "C", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000515035.5:n.3910C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS344376" }, { "coordinates": [ { "allele": "T", "end": 342, "endIntronDirection": "+", "endIntronOffset": 11489, "referenceAllele": "C", "start": 342, "startIntronDirection": "+", "startIntronOffset": 11488 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000515516.1:c.342+11489C>T" ], "proteinEffect": { "hgvs": "ENSP00000426471.1:n.342+11489C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS344722" }, { "@id": "http://reg.genome.network/allele/PA236244", "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_000356.3:c.2425C>T" ], "proteinEffect": { "hgvs": "NP_000347.2:p.Gln809Ter", "hgvsWellDefined": "NP_000347.2:p.Gln809_Val1411delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006419" }, { "@id": "http://reg.genome.network/allele/PA2825293144", "coordinates": [ { "allele": "T", "end": 2764, "referenceAllele": "C", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001008657.2:c.2656C>T" ], "proteinEffect": { "hgvs": "NP_001008657.1:p.Gln886Ter", "hgvsWellDefined": "NP_001008657.1:p.Gln886_Ser958delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008026" }, { "@id": "http://reg.genome.network/allele/PA2825790870", "coordinates": [ { "allele": "T", "end": 2764, "referenceAllele": "C", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135243.1:c.2656C>T" ], "proteinEffect": { "hgvs": "NP_001128715.1:p.Gln886Ter", "hgvsWellDefined": "NP_001128715.1:p.Gln886_Val1488delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012405" }, { "@id": "http://reg.genome.network/allele/PA2825791370", "coordinates": [ { "allele": "T", "end": 2764, "referenceAllele": "C", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135244.1:c.2656C>T" ], "proteinEffect": { "hgvs": "NP_001128716.1:p.Gln886Ter", "hgvsWellDefined": "NP_001128716.1:p.Gln886_Val1451delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012406" }, { "@id": "http://reg.genome.network/allele/PA2825791866", "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135245.1:c.2425C>T" ], "proteinEffect": { "hgvs": "NP_001128717.1:p.Gln809Ter", "hgvsWellDefined": "NP_001128717.1:p.Gln809_Val1412delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012407" }, { "@id": "http://reg.genome.network/allele/PA915998087", "coordinates": [ { "allele": "T", "end": 2764, "referenceAllele": "C", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001195141.1:c.2656C>T" ], "proteinEffect": { "hgvs": "NP_001182070.1:p.Gln886Ter", "hgvsWellDefined": "NP_001182070.1:p.Gln886_Val1450delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016540" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268502.2:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268559.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268559.1:p.Gln886_Val1526delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065782" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268503.2:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268560.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268560.1:p.Gln886_Val1525delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065783" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268504.2:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268561.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268561.1:p.Gln886_Val1525delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065784" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268505.2:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268562.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268562.1:p.Gln886_Val1489delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065785" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268506.2:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268563.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268563.1:p.Gln886_Val1488delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065786" }, { "coordinates": [ { "allele": "T", "end": 2470, "referenceAllele": "C", "start": 2469 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268507.2:c.2425C>T" ], "proteinEffect": { "hgvs": "XP_005268564.1:p.Gln809Ter", "hgvsWellDefined": "XP_005268564.1:p.Gln809_Val1449delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065787" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268508.2:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268565.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268565.1:p.Gln886_Ser995delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065788" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268509.2:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268566.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268566.1:p.Gln886_Ser994delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065789" }, { "coordinates": [ { "allele": "T", "end": 2523, "endIntronDirection": "-", "endIntronOffset": 125, "referenceAllele": "C", "start": 2523, "startIntronDirection": "-", "startIntronOffset": 126 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_011537678.1:c.2479-126C>T" ], "proteinEffect": { "hgvs": "XP_011535980.1:n.2479-126C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS104641" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427778.1:n.2701C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117863" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427779.1:n.2701C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117864" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427780.1:n.2701C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117865" }, { "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268502.4:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268559.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268559.1:p.Gln886_Val1526delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536594" }, { "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268503.4:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268560.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268560.1:p.Gln886_Val1525delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536595" }, { "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268504.4:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268561.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268561.1:p.Gln886_Val1525delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536596" }, { "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268505.4:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268562.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268562.1:p.Gln886_Val1489delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536597" }, { "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268506.4:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268563.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268563.1:p.Gln886_Val1488delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536598" }, { "coordinates": [ { "allele": "T", "end": 2472, "referenceAllele": "C", "start": 2471 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268507.4:c.2425C>T" ], "proteinEffect": { "hgvs": "XP_005268564.1:p.Gln809Ter", "hgvsWellDefined": "XP_005268564.1:p.Gln809_Val1449delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536599" }, { "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268508.4:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268565.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268565.1:p.Gln886_Ser995delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536600" }, { "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268509.4:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_005268566.1:p.Gln886Ter", "hgvsWellDefined": "XP_005268566.1:p.Gln886_Ser994delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536601" }, { "coordinates": [ { "allele": "T", "end": 2525, "endIntronDirection": "-", "endIntronOffset": 125, "referenceAllele": "C", "start": 2525, "startIntronDirection": "-", "startIntronOffset": 126 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_011537678.3:c.2479-126C>T" ], "proteinEffect": { "hgvs": "XP_011535980.1:n.2479-126C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS552983" }, { "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009792.2:c.2656C>T" ], "proteinEffect": { "hgvs": "XP_016865281.1:p.Gln886Ter", "hgvsWellDefined": "XP_016865281.1:p.Gln886_Val1487delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564009" }, { "coordinates": [ { "allele": "T", "end": 2525, "endIntronDirection": "-", "endIntronOffset": 125, "referenceAllele": "C", "start": 2525, "startIntronDirection": "-", "startIntronOffset": 126 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009793.2:c.2479-126C>T" ], "proteinEffect": { "hgvs": "XP_016865282.1:n.2479-126C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS564010" }, { "coordinates": [ { "allele": "T", "end": 2525, "endIntronDirection": "-", "endIntronOffset": 125, "referenceAllele": "C", "start": 2525, "startIntronDirection": "-", "startIntronOffset": 126 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009794.2:c.2479-126C>T" ], "proteinEffect": { "hgvs": "XP_016865283.1:n.2479-126C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS564011" }, { "coordinates": [ { "allele": "T", "end": 2472, "referenceAllele": "C", "start": 2471 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009795.2:c.2425C>T" ], "proteinEffect": { "hgvs": "XP_016865284.1:p.Gln809Ter", "hgvsWellDefined": "XP_016865284.1:p.Gln809_Ser881delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564012" }, { "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427778.3:n.2703C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606481" }, { "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427779.2:n.2703C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606482" }, { "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427780.3:n.2703C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606483" }, { "@id": "http://reg.genome.network/allele/PA236244", "coordinates": [ { "allele": "T", "end": 2475, "referenceAllele": "C", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_000356.4:c.2425C>T" ], "proteinEffect": { "hgvs": "NP_000347.2:p.Gln809Ter", "hgvsWellDefined": "NP_000347.2:p.Gln809_Val1411delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674805" }, { "@id": "http://reg.genome.network/allele/PA2825293144", "coordinates": [ { "allele": "T", "end": 2706, "referenceAllele": "C", "start": 2705 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001008657.3:c.2656C>T" ], "proteinEffect": { "hgvs": "NP_001008657.1:p.Gln886Ter", "hgvsWellDefined": "NP_001008657.1:p.Gln886_Ser958delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675323" }, { "@id": "http://reg.genome.network/allele/PA2825791370", "coordinates": [ { "allele": "T", "end": 2706, "referenceAllele": "C", "start": 2705 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135244.2:c.2656C>T" ], "proteinEffect": { "hgvs": "NP_001128716.1:p.Gln886Ter", "hgvsWellDefined": "NP_001128716.1:p.Gln886_Val1451delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677300" }, { "@id": "http://reg.genome.network/allele/PA2825791866", "coordinates": [ { "allele": "T", "end": 2475, "referenceAllele": "C", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135245.2:c.2425C>T" ], "proteinEffect": { "hgvs": "NP_001128717.1:p.Gln809Ter", "hgvsWellDefined": "NP_001128717.1:p.Gln809_Val1412delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677301" }, { "@id": "http://reg.genome.network/allele/PA915998087", "coordinates": [ { "allele": "T", "end": 2706, "referenceAllele": "C", "start": 2705 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001195141.2:c.2656C>T" ], "proteinEffect": { "hgvs": "NP_001182070.1:p.Gln886Ter", "hgvsWellDefined": "NP_001182070.1:p.Gln886_Val1450delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679284" }, { "@id": "http://reg.genome.network/allele/PA2573072468", "coordinates": [ { "allele": "T", "end": 2706, "referenceAllele": "C", "start": 2705 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001371623.1:c.2656C>T" ], "proteinEffect": { "hgvs": "NP_001358552.1:p.Gln886Ter", "hgvsWellDefined": "NP_001358552.1:p.Gln886_Val1489delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692996", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643257.2:c.2656C>T" }, "RefSeq": { "hgvs": "NM_001371623.1:c.2656C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493815.1:p.Gln886Ter" }, "RefSeq": { "hgvs": "NP_001358552.1:p.Gln886Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825790870", "coordinates": [ { "allele": "T", "end": 2706, "referenceAllele": "C", "start": 2705 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135243.2:c.2656C>T" ], "proteinEffect": { "hgvs": "NP_001128715.1:p.Gln886Ter", "hgvsWellDefined": "NP_001128715.1:p.Gln886_Val1488delinsValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712433" } ], "type": "nucleotide" }