{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA361747591", "communityStandardTitle": [ "NM_001371623.1(TCOF1):c.1623G>A (p.Trp541Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.149755036G>A?assembly=hg19", "id": "chr5:g.149755036G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.150375473G>A?assembly=hg38", "id": "chr5:g.150375473G>A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 150375473, "referenceAllele": "G", "start": 150375472 } ], "hgvs": [ "NC_000005.10:g.150375473G>A", "CM000667.2:g.150375473G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 149755036, "referenceAllele": "G", "start": 149755035 } ], "hgvs": [ "NC_000005.9:g.149755036G>A", "CM000667.1:g.149755036G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 149735229, "referenceAllele": "G", "start": 149735228 } ], "hgvs": [ "NC_000005.8:g.149735229G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 22835, "referenceAllele": "G", "start": 22834 } ], "hgvs": [ "NG_011341.1:g.22835G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001706" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1651, "referenceAllele": "G", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000427724.7:c.1623G>A" ], "proteinEffect": { "hgvs": "ENSP00000390717.3:p.Trp541Ter", "hgvsWellDefined": "ENSP00000390717.3:p.Trp541_Val1450delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755194" }, { "coordinates": [ { "allele": "A", "end": 1666, "referenceAllele": "G", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000513538.2:c.1623G>A" ], "proteinEffect": { "hgvs": "ENSP00000422567.2:p.Trp541Ter", "hgvsWellDefined": "ENSP00000422567.2:p.Trp541_Ser994delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758325" }, { "coordinates": [ { "allele": "A", "end": 1673, "referenceAllele": "G", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000643257.2:c.1623G>A" ], "proteinEffect": { "hgvs": "ENSP00000493815.1:p.Trp541Ter", "hgvsWellDefined": "ENSP00000493815.1:p.Trp541_Val1489delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767180", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643257.2:c.1623G>A" }, "RefSeq": { "hgvs": "NM_001371623.1:c.1623G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493815.1:p.Trp541Ter" }, "RefSeq": { "hgvs": "NP_001358552.1:p.Trp541Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1510, "referenceAllele": "G", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000650162.1:c.1392G>A" ], "proteinEffect": { "hgvs": "ENSP00000497075.1:p.Trp464Ter", "hgvsWellDefined": "ENSP00000497075.1:p.Trp464_Ser1359del" }, "referenceSequence": "http://reg.genome.network/refseq/RS770970" }, { "coordinates": [ { "allele": "A", "end": 911, "referenceAllele": "G", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000674413.1:c.911G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774383" }, { "coordinates": [ { "allele": "A", "end": 1467, "referenceAllele": "G", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000323668.11:c.1392G>A" ], "proteinEffect": { "hgvs": "ENSP00000325223.6:p.Trp464Ter", "hgvsWellDefined": "ENSP00000325223.6:p.Trp464_Val1411delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258237" }, { "coordinates": [ { "allele": "A", "end": 1731, "referenceAllele": "G", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000377797.7:c.1623G>A" ], "proteinEffect": { "hgvs": "ENSP00000367028.4:p.Trp541Ter", "hgvsWellDefined": "ENSP00000367028.4:p.Trp541_Val1488delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271737" }, { "coordinates": [ { "allele": "A", "end": 1652, "referenceAllele": "G", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000394269.7:c.1623G>A" ], "proteinEffect": { "hgvs": "ENSP00000377811.3:p.Trp541Ter", "hgvsWellDefined": "ENSP00000377811.3:p.Trp541_Ser958delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276088" }, { "coordinates": [ { "allele": "A", "end": 1651, "referenceAllele": "G", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000427724.6:c.1623G>A" ], "proteinEffect": { "hgvs": "ENSP00000390717.2:p.Trp541Ter", "hgvsWellDefined": "ENSP00000390717.2:p.Trp541Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289839" }, { "coordinates": [ { "allele": "A", "end": 1656, "referenceAllele": "G", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000439160.6:c.1623G>A" ], "proteinEffect": { "hgvs": "ENSP00000406888.2:p.Trp541Ter", "hgvsWellDefined": "ENSP00000406888.2:p.Trp541_Val1451delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295291" }, { "coordinates": [ { "allele": "A", "end": 1473, "referenceAllele": "G", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000445265.6:c.1392G>A" ], "proteinEffect": { "hgvs": "ENSP00000409944.2:p.Trp464Ter", "hgvsWellDefined": "ENSP00000409944.2:p.Trp464_Val1412delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298204" }, { "coordinates": [ { "allele": "A", "end": 1623, "referenceAllele": "G", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000504761.6:c.1623G>A" ], "proteinEffect": { "hgvs": "ENSP00000421655.2:p.Trp541Ter", "hgvsWellDefined": "ENSP00000421655.2:p.Trp541_Val1488delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336728" }, { "coordinates": [ { "allele": "A", "end": 1623, "referenceAllele": "G", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000513346.5:c.1623G>A" ], "proteinEffect": { "hgvs": "ENSP00000427484.1:p.Trp541Ter", "hgvsWellDefined": "ENSP00000427484.1:p.Trp541_Val1488delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343111" }, { "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "G", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000514442.5:n.423G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS343923" }, { "coordinates": [ { "allele": "A", "end": 2705, "referenceAllele": "G", "start": 2704 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000515035.5:n.2705G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344376" }, { "coordinates": [ { "allele": "A", "end": 342, "endIntronDirection": "+", "endIntronOffset": 7556, "referenceAllele": "G", "start": 342, "startIntronDirection": "+", "startIntronOffset": 7555 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000515516.1:c.342+7556G>A" ], "proteinEffect": { "hgvs": "ENSP00000426471.1:n.342+7556G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS344722" }, { "@id": "http://reg.genome.network/allele/PA2825149818", "coordinates": [ { "allele": "A", "end": 1500, "referenceAllele": "G", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_000356.3:c.1392G>A" ], "proteinEffect": { "hgvs": "NP_000347.2:p.Trp464Ter", "hgvsWellDefined": "NP_000347.2:p.Trp464_Val1411delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006419" }, { "@id": "http://reg.genome.network/allele/PA2825293023", "coordinates": [ { "allele": "A", "end": 1731, "referenceAllele": "G", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001008657.2:c.1623G>A" ], "proteinEffect": { "hgvs": "NP_001008657.1:p.Trp541Ter", "hgvsWellDefined": "NP_001008657.1:p.Trp541_Ser958delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008026" }, { "@id": "http://reg.genome.network/allele/PA2825790762", "coordinates": [ { "allele": "A", "end": 1731, "referenceAllele": "G", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135243.1:c.1623G>A" ], "proteinEffect": { "hgvs": "NP_001128715.1:p.Trp541Ter", "hgvsWellDefined": "NP_001128715.1:p.Trp541_Val1488delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012405" }, { "@id": "http://reg.genome.network/allele/PA2825791250", "coordinates": [ { "allele": "A", "end": 1731, "referenceAllele": "G", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135244.1:c.1623G>A" ], "proteinEffect": { "hgvs": "NP_001128716.1:p.Trp541Ter", "hgvsWellDefined": "NP_001128716.1:p.Trp541_Val1451delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012406" }, { "@id": "http://reg.genome.network/allele/PA2825791745", "coordinates": [ { "allele": "A", "end": 1500, "referenceAllele": "G", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135245.1:c.1392G>A" ], "proteinEffect": { "hgvs": "NP_001128717.1:p.Trp464Ter", "hgvsWellDefined": "NP_001128717.1:p.Trp464_Val1412delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012407" }, { "@id": "http://reg.genome.network/allele/PA2826198009", "coordinates": [ { "allele": "A", "end": 1731, "referenceAllele": "G", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001195141.1:c.1623G>A" ], "proteinEffect": { "hgvs": "NP_001182070.1:p.Trp541Ter", "hgvsWellDefined": "NP_001182070.1:p.Trp541_Val1450delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016540" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268502.2:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268559.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268559.1:p.Trp541_Val1526delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065782" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268503.2:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268560.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268560.1:p.Trp541_Val1525delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065783" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268504.2:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268561.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268561.1:p.Trp541_Val1525delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065784" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268505.2:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268562.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268562.1:p.Trp541_Val1489delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065785" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268506.2:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268563.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268563.1:p.Trp541_Val1488delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065786" }, { "coordinates": [ { "allele": "A", "end": 1437, "referenceAllele": "G", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268507.2:c.1392G>A" ], "proteinEffect": { "hgvs": "XP_005268564.1:p.Trp464Ter", "hgvsWellDefined": "XP_005268564.1:p.Trp464_Val1449delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065787" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268508.2:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268565.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268565.1:p.Trp541_Ser995delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065788" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268509.2:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268566.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268566.1:p.Trp541_Ser994delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065789" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_011537678.1:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_011535980.1:p.Trp541Ter", "hgvsWellDefined": "XP_011535980.1:p.Trp541_Val1466delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104641" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427778.1:n.1668G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117863" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427779.1:n.1668G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117864" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "G", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427780.1:n.1668G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117865" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268502.4:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268559.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268559.1:p.Trp541_Val1526delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536594" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268503.4:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268560.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268560.1:p.Trp541_Val1525delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536595" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268504.4:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268561.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268561.1:p.Trp541_Val1525delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536596" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268505.4:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268562.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268562.1:p.Trp541_Val1489delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536597" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268506.4:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268563.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268563.1:p.Trp541_Val1488delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536598" }, { "coordinates": [ { "allele": "A", "end": 1439, "referenceAllele": "G", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268507.4:c.1392G>A" ], "proteinEffect": { "hgvs": "XP_005268564.1:p.Trp464Ter", "hgvsWellDefined": "XP_005268564.1:p.Trp464_Val1449delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536599" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268508.4:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268565.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268565.1:p.Trp541_Ser995delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536600" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268509.4:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_005268566.1:p.Trp541Ter", "hgvsWellDefined": "XP_005268566.1:p.Trp541_Ser994delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536601" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_011537678.3:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_011535980.1:p.Trp541Ter", "hgvsWellDefined": "XP_011535980.1:p.Trp541_Val1466delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552983" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009792.2:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_016865281.1:p.Trp541Ter", "hgvsWellDefined": "XP_016865281.1:p.Trp541_Val1487delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnLysAspSerAsnSerLysProAlaArgSerLysThrLeuAlaProAlaProProGluArgAsnThrGluGlySerSerGluSerSerGluGluGluLeuProLeuThrGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564009" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009793.2:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_016865282.1:p.Trp541Ter", "hgvsWellDefined": "XP_016865282.1:p.Trp541_Val1429delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564010" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009794.2:c.1623G>A" ], "proteinEffect": { "hgvs": "XP_016865283.1:p.Trp541Ter", "hgvsWellDefined": "XP_016865283.1:p.Trp541_Val1391delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564011" }, { "coordinates": [ { "allele": "A", "end": 1439, "referenceAllele": "G", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009795.2:c.1392G>A" ], "proteinEffect": { "hgvs": "XP_016865284.1:p.Trp464Ter", "hgvsWellDefined": "XP_016865284.1:p.Trp464_Ser881delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564012" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427778.3:n.1670G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606481" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427779.2:n.1670G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606482" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427780.3:n.1670G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606483" }, { "@id": "http://reg.genome.network/allele/PA2825149818", "coordinates": [ { "allele": "A", "end": 1442, "referenceAllele": "G", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_000356.4:c.1392G>A" ], "proteinEffect": { "hgvs": "NP_000347.2:p.Trp464Ter", "hgvsWellDefined": "NP_000347.2:p.Trp464_Val1411delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674805" }, { "@id": "http://reg.genome.network/allele/PA2825293023", "coordinates": [ { "allele": "A", "end": 1673, "referenceAllele": "G", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001008657.3:c.1623G>A" ], "proteinEffect": { "hgvs": "NP_001008657.1:p.Trp541Ter", "hgvsWellDefined": "NP_001008657.1:p.Trp541_Ser958delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675323" }, { "@id": "http://reg.genome.network/allele/PA2825791250", "coordinates": [ { "allele": "A", "end": 1673, "referenceAllele": "G", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135244.2:c.1623G>A" ], "proteinEffect": { "hgvs": "NP_001128716.1:p.Trp541Ter", "hgvsWellDefined": "NP_001128716.1:p.Trp541_Val1451delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677300" }, { "@id": "http://reg.genome.network/allele/PA2825791745", "coordinates": [ { "allele": "A", "end": 1442, "referenceAllele": "G", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135245.2:c.1392G>A" ], "proteinEffect": { "hgvs": "NP_001128717.1:p.Trp464Ter", "hgvsWellDefined": "NP_001128717.1:p.Trp464_Val1412delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677301" }, { "@id": "http://reg.genome.network/allele/PA2826198009", "coordinates": [ { "allele": "A", "end": 1673, "referenceAllele": "G", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001195141.2:c.1623G>A" ], "proteinEffect": { "hgvs": "NP_001182070.1:p.Trp541Ter", "hgvsWellDefined": "NP_001182070.1:p.Trp541_Val1450delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679284" }, { "@id": "http://reg.genome.network/allele/PA2573213794", "coordinates": [ { "allele": "A", "end": 1673, "referenceAllele": "G", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001371623.1:c.1623G>A" ], "proteinEffect": { "hgvs": "NP_001358552.1:p.Trp541Ter", "hgvsWellDefined": "NP_001358552.1:p.Trp541_Val1489delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692996", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643257.2:c.1623G>A" }, "RefSeq": { "hgvs": "NM_001371623.1:c.1623G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493815.1:p.Trp541Ter" }, "RefSeq": { "hgvs": "NP_001358552.1:p.Trp541Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825790762", "coordinates": [ { "allele": "A", "end": 1673, "referenceAllele": "G", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135243.2:c.1623G>A" ], "proteinEffect": { "hgvs": "NP_001128715.1:p.Trp541Ter", "hgvsWellDefined": "NP_001128715.1:p.Trp541_Val1488delinsGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnValIleLysProProLeuIlePheValAspProAsnArgSerProAlaGlyProAlaAlaThrProAlaGlnAlaGlnAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712433" } ], "type": "nucleotide" }