{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA361763581", "communityStandardTitle": [ "NM_001371623.1(TCOF1):c.2935C>T (p.Gln979Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2082450[alleleid]", "alleleId": 2082450, "preferredName": "NM_001371623.1(TCOF1):c.2935C>T (p.Gln979Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2030947", "RCV": [ "RCV002898715" ], "variationId": 2030947 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.149767540C>T?assembly=hg19", "id": "chr5:g.149767540C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.150387977C>T?assembly=hg38", "id": "chr5:g.150387977C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2534125699", "rs": 2534125699 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 150387977, "referenceAllele": "C", "start": 150387976 } ], "hgvs": [ "NC_000005.10:g.150387977C>T", "CM000667.2:g.150387977C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 149767540, "referenceAllele": "C", "start": 149767539 } ], "hgvs": [ "NC_000005.9:g.149767540C>T", "CM000667.1:g.149767540C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 149747733, "referenceAllele": "C", "start": 149747732 } ], "hgvs": [ "NC_000005.8:g.149747733C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 35339, "referenceAllele": "C", "start": 35338 } ], "hgvs": [ "NG_011341.1:g.35339C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001706" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2963, "referenceAllele": "C", "start": 2962 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000427724.7:c.2935C>T" ], "proteinEffect": { "hgvs": "ENSP00000390717.3:p.Gln979Ter", "hgvsWellDefined": "ENSP00000390717.3:p.Gln979_Val1450delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755194" }, { "coordinates": [ { "allele": "T", "end": 2985, "referenceAllele": "C", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000643257.2:c.2935C>T" ], "proteinEffect": { "hgvs": "ENSP00000493815.1:p.Gln979Ter", "hgvsWellDefined": "ENSP00000493815.1:p.Gln979_Val1489delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767180", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643257.2:c.2935C>T" }, "RefSeq": { "hgvs": "NM_001371623.1:c.2935C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493815.1:p.Gln979Ter" }, "RefSeq": { "hgvs": "NP_001358552.1:p.Gln979Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2822, "referenceAllele": "C", "start": 2821 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000650162.1:c.2704C>T" ], "proteinEffect": { "hgvs": "ENSP00000497075.1:p.Gln902Ter", "hgvsWellDefined": "ENSP00000497075.1:p.Gln902_Ser1359del" }, "referenceSequence": "http://reg.genome.network/refseq/RS770970" }, { "coordinates": [ { "allele": "T", "end": 2334, "referenceAllele": "C", "start": 2333 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000674413.1:c.2334C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774383" }, { "coordinates": [ { "allele": "T", "end": 2779, "referenceAllele": "C", "start": 2778 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000323668.11:c.2704C>T" ], "proteinEffect": { "hgvs": "ENSP00000325223.6:p.Gln902Ter", "hgvsWellDefined": "ENSP00000325223.6:p.Gln902_Val1411delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258237" }, { "coordinates": [ { "allele": "T", "end": 3043, "referenceAllele": "C", "start": 3042 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000377797.7:c.2935C>T" ], "proteinEffect": { "hgvs": "ENSP00000367028.4:p.Gln979Ter", "hgvsWellDefined": "ENSP00000367028.4:p.Gln979_Val1488delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271737" }, { "coordinates": [ { "allele": "T", "end": 2963, "referenceAllele": "C", "start": 2962 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000427724.6:c.2935C>T" ], "proteinEffect": { "hgvs": "ENSP00000390717.2:p.Gln979Ter", "hgvsWellDefined": "ENSP00000390717.2:p.Gln979Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289839" }, { "coordinates": [ { "allele": "T", "end": 2968, "referenceAllele": "C", "start": 2967 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000439160.6:c.2935C>T" ], "proteinEffect": { "hgvs": "ENSP00000406888.2:p.Gln979Ter", "hgvsWellDefined": "ENSP00000406888.2:p.Gln979_Val1451delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295291" }, { "coordinates": [ { "allele": "T", "end": 2785, "referenceAllele": "C", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000445265.6:c.2704C>T" ], "proteinEffect": { "hgvs": "ENSP00000409944.2:p.Gln902Ter", "hgvsWellDefined": "ENSP00000409944.2:p.Gln902_Val1412delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298204" }, { "coordinates": [ { "allele": "T", "end": 2935, "referenceAllele": "C", "start": 2934 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000504761.6:c.2935C>T" ], "proteinEffect": { "hgvs": "ENSP00000421655.2:p.Gln979Ter", "hgvsWellDefined": "ENSP00000421655.2:p.Gln979_Val1488delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336728" }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000506767.1:c.369C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS338237" }, { "coordinates": [ { "allele": "T", "end": 3046, "referenceAllele": "C", "start": 3045 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000513346.5:c.3046C>T" ], "proteinEffect": { "hgvs": "ENSP00000427484.1:p.Gln1016Ter", "hgvsWellDefined": "ENSP00000427484.1:p.Gln1016_Val1488delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343111" }, { "coordinates": [ { "allele": "T", "end": 1735, "referenceAllele": "C", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000514442.5:n.1735C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS343923" }, { "coordinates": [ { "allele": "T", "end": 342, "endIntronDirection": "-", "endIntronOffset": 8765, "referenceAllele": "C", "start": 342, "startIntronDirection": "-", "startIntronOffset": 8766 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "ENST00000515516.1:c.343-8766C>T" ], "proteinEffect": { "hgvs": "ENSP00000426471.1:n.343-8766C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS344722" }, { "@id": "http://reg.genome.network/allele/PA2825150001", "coordinates": [ { "allele": "T", "end": 2812, "referenceAllele": "C", "start": 2811 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_000356.3:c.2704C>T" ], "proteinEffect": { "hgvs": "NP_000347.2:p.Gln902Ter", "hgvsWellDefined": "NP_000347.2:p.Gln902_Val1411delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006419" }, { "@id": "http://reg.genome.network/allele/PA2825790895", "coordinates": [ { "allele": "T", "end": 3043, "referenceAllele": "C", "start": 3042 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135243.1:c.2935C>T" ], "proteinEffect": { "hgvs": "NP_001128715.1:p.Gln979Ter", "hgvsWellDefined": "NP_001128715.1:p.Gln979_Val1488delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012405" }, { "@id": "http://reg.genome.network/allele/PA2825791398", "coordinates": [ { "allele": "T", "end": 3043, "referenceAllele": "C", "start": 3042 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135244.1:c.2935C>T" ], "proteinEffect": { "hgvs": "NP_001128716.1:p.Gln979Ter", "hgvsWellDefined": "NP_001128716.1:p.Gln979_Val1451delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012406" }, { "@id": "http://reg.genome.network/allele/PA2825791895", "coordinates": [ { "allele": "T", "end": 2812, "referenceAllele": "C", "start": 2811 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135245.1:c.2704C>T" ], "proteinEffect": { "hgvs": "NP_001128717.1:p.Gln902Ter", "hgvsWellDefined": "NP_001128717.1:p.Gln902_Val1412delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012407" }, { "@id": "http://reg.genome.network/allele/PA2826198136", "coordinates": [ { "allele": "T", "end": 3043, "referenceAllele": "C", "start": 3042 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001195141.1:c.2935C>T" ], "proteinEffect": { "hgvs": "NP_001182070.1:p.Gln979Ter", "hgvsWellDefined": "NP_001182070.1:p.Gln979_Val1450delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016540" }, { "coordinates": [ { "allele": "T", "end": 3091, "referenceAllele": "C", "start": 3090 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268502.2:c.3046C>T" ], "proteinEffect": { "hgvs": "XP_005268559.1:p.Gln1016Ter", "hgvsWellDefined": "XP_005268559.1:p.Gln1016_Val1526delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065782" }, { "coordinates": [ { "allele": "T", "end": 3088, "referenceAllele": "C", "start": 3087 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268503.2:c.3043C>T" ], "proteinEffect": { "hgvs": "XP_005268560.1:p.Gln1015Ter", "hgvsWellDefined": "XP_005268560.1:p.Gln1015_Val1525delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065783" }, { "coordinates": [ { "allele": "T", "end": 3091, "referenceAllele": "C", "start": 3090 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268504.2:c.3046C>T" ], "proteinEffect": { "hgvs": "XP_005268561.1:p.Gln1016Ter", "hgvsWellDefined": "XP_005268561.1:p.Gln1016_Val1525delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065784" }, { "coordinates": [ { "allele": "T", "end": 2980, "referenceAllele": "C", "start": 2979 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268505.2:c.2935C>T" ], "proteinEffect": { "hgvs": "XP_005268562.1:p.Gln979Ter", "hgvsWellDefined": "XP_005268562.1:p.Gln979_Val1489delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065785" }, { "coordinates": [ { "allele": "T", "end": 3091, "referenceAllele": "C", "start": 3090 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268506.2:c.3046C>T" ], "proteinEffect": { "hgvs": "XP_005268563.1:p.Gln1016Ter", "hgvsWellDefined": "XP_005268563.1:p.Gln1016_Val1488delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065786" }, { "coordinates": [ { "allele": "T", "end": 2860, "referenceAllele": "C", "start": 2859 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268507.2:c.2815C>T" ], "proteinEffect": { "hgvs": "XP_005268564.1:p.Gln939Ter", "hgvsWellDefined": "XP_005268564.1:p.Gln939_Val1449delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065787" }, { "coordinates": [ { "allele": "T", "end": 2911, "referenceAllele": "C", "start": 2910 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_011537678.1:c.2866C>T" ], "proteinEffect": { "hgvs": "XP_011535980.1:p.Gln956Ter", "hgvsWellDefined": "XP_011535980.1:p.Gln956_Val1466delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104641" }, { "coordinates": [ { "allele": "T", "end": 3050, "referenceAllele": "C", "start": 3049 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427778.1:n.3050C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117863" }, { "coordinates": [ { "allele": "T", "end": 3050, "referenceAllele": "C", "start": 3049 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427779.1:n.3050C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117864" }, { "coordinates": [ { "allele": "T", "end": 2939, "referenceAllele": "C", "start": 2938 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427780.1:n.2939C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117865" }, { "coordinates": [ { "allele": "T", "end": 3093, "referenceAllele": "C", "start": 3092 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268502.4:c.3046C>T" ], "proteinEffect": { "hgvs": "XP_005268559.1:p.Gln1016Ter", "hgvsWellDefined": "XP_005268559.1:p.Gln1016_Val1526delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536594" }, { "coordinates": [ { "allele": "T", "end": 3090, "referenceAllele": "C", "start": 3089 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268503.4:c.3043C>T" ], "proteinEffect": { "hgvs": "XP_005268560.1:p.Gln1015Ter", "hgvsWellDefined": "XP_005268560.1:p.Gln1015_Val1525delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536595" }, { "coordinates": [ { "allele": "T", "end": 3093, "referenceAllele": "C", "start": 3092 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268504.4:c.3046C>T" ], "proteinEffect": { "hgvs": "XP_005268561.1:p.Gln1016Ter", "hgvsWellDefined": "XP_005268561.1:p.Gln1016_Val1525delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536596" }, { "coordinates": [ { "allele": "T", "end": 2982, "referenceAllele": "C", "start": 2981 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268505.4:c.2935C>T" ], "proteinEffect": { "hgvs": "XP_005268562.1:p.Gln979Ter", "hgvsWellDefined": "XP_005268562.1:p.Gln979_Val1489delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536597" }, { "coordinates": [ { "allele": "T", "end": 3093, "referenceAllele": "C", "start": 3092 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268506.4:c.3046C>T" ], "proteinEffect": { "hgvs": "XP_005268563.1:p.Gln1016Ter", "hgvsWellDefined": "XP_005268563.1:p.Gln1016_Val1488delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536598" }, { "coordinates": [ { "allele": "T", "end": 2862, "referenceAllele": "C", "start": 2861 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_005268507.4:c.2815C>T" ], "proteinEffect": { "hgvs": "XP_005268564.1:p.Gln939Ter", "hgvsWellDefined": "XP_005268564.1:p.Gln939_Val1449delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536599" }, { "coordinates": [ { "allele": "T", "end": 2913, "referenceAllele": "C", "start": 2912 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_011537678.3:c.2866C>T" ], "proteinEffect": { "hgvs": "XP_011535980.1:p.Gln956Ter", "hgvsWellDefined": "XP_011535980.1:p.Gln956_Val1466delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552983" }, { "coordinates": [ { "allele": "T", "end": 3093, "referenceAllele": "C", "start": 3092 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009792.2:c.3046C>T" ], "proteinEffect": { "hgvs": "XP_016865281.1:p.Gln1016Ter", "hgvsWellDefined": "XP_016865281.1:p.Gln1016_Val1487delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564009" }, { "coordinates": [ { "allele": "T", "end": 2802, "referenceAllele": "C", "start": 2801 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009793.2:c.2755C>T" ], "proteinEffect": { "hgvs": "XP_016865282.1:p.Gln919Ter", "hgvsWellDefined": "XP_016865282.1:p.Gln919_Val1429delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564010" }, { "coordinates": [ { "allele": "T", "end": 2802, "referenceAllele": "C", "start": 2801 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XM_017009794.2:c.2755C>T" ], "proteinEffect": { "hgvs": "XP_016865283.1:p.Gln919Ter", "hgvsWellDefined": "XP_016865283.1:p.Gln919_Val1391delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564011" }, { "coordinates": [ { "allele": "T", "end": 3052, "referenceAllele": "C", "start": 3051 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427778.3:n.3052C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606481" }, { "coordinates": [ { "allele": "T", "end": 3052, "referenceAllele": "C", "start": 3051 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427779.2:n.3052C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606482" }, { "coordinates": [ { "allele": "T", "end": 2941, "referenceAllele": "C", "start": 2940 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "XR_427780.3:n.2941C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606483" }, { "@id": "http://reg.genome.network/allele/PA2825150001", "coordinates": [ { "allele": "T", "end": 2754, "referenceAllele": "C", "start": 2753 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_000356.4:c.2704C>T" ], "proteinEffect": { "hgvs": "NP_000347.2:p.Gln902Ter", "hgvsWellDefined": "NP_000347.2:p.Gln902_Val1411delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674805" }, { "@id": "http://reg.genome.network/allele/PA2825791398", "coordinates": [ { "allele": "T", "end": 2985, "referenceAllele": "C", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135244.2:c.2935C>T" ], "proteinEffect": { "hgvs": "NP_001128716.1:p.Gln979Ter", "hgvsWellDefined": "NP_001128716.1:p.Gln979_Val1451delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677300" }, { "@id": "http://reg.genome.network/allele/PA2825791895", "coordinates": [ { "allele": "T", "end": 2754, "referenceAllele": "C", "start": 2753 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135245.2:c.2704C>T" ], "proteinEffect": { "hgvs": "NP_001128717.1:p.Gln902Ter", "hgvsWellDefined": "NP_001128717.1:p.Gln902_Val1412delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677301" }, { "@id": "http://reg.genome.network/allele/PA2826198136", "coordinates": [ { "allele": "T", "end": 2985, "referenceAllele": "C", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001195141.2:c.2935C>T" ], "proteinEffect": { "hgvs": "NP_001182070.1:p.Gln979Ter", "hgvsWellDefined": "NP_001182070.1:p.Gln979_Val1450delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679284" }, { "@id": "http://reg.genome.network/allele/PA2580220247", "coordinates": [ { "allele": "T", "end": 2985, "referenceAllele": "C", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001371623.1:c.2935C>T" ], "proteinEffect": { "hgvs": "NP_001358552.1:p.Gln979Ter", "hgvsWellDefined": "NP_001358552.1:p.Gln979_Val1489delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuValGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692996", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643257.2:c.2935C>T" }, "RefSeq": { "hgvs": "NM_001371623.1:c.2935C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493815.1:p.Gln979Ter" }, "RefSeq": { "hgvs": "NP_001358552.1:p.Gln979Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825790895", "coordinates": [ { "allele": "T", "end": 2985, "referenceAllele": "C", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135243.2:c.2935C>T" ], "proteinEffect": { "hgvs": "NP_001128715.1:p.Gln979Ter", "hgvsWellDefined": "NP_001128715.1:p.Gln979_Val1488delinsAlaAlaSerThrProArgLysAlaArgAlaSerGluSerThrAlaArgSerSerSerSerGluSerGluAspGluAspValIleProAlaThrGlnCysLeuThrProGlyIleArgThrAsnValValThrMetProThrAlaHisProArgIleAlaProLysAlaSerMetAlaGlyAlaSerSerSerLysGluSerSerArgIleSerAspGlyLysLysGlnGluGlyProAlaThrGlnValSerLysLysAsnProAlaSerLeuProLeuThrGlnAlaAlaLeuLysValLeuAlaGlnLysAlaSerGluAlaGlnProProValAlaArgThrGlnProSerSerGlyValAspSerAlaValGlyThrLeuProAlaThrSerProGlnSerThrSerValGlnAlaLysGlyThrAsnLysLeuArgLysProLysLeuProGluValGlnGlnAlaThrLysAlaProGluSerSerAspAspSerGluAspSerSerAspSerSerSerGlySerGluGluAspGlyGluGlyProGlnGlyAlaLysSerAlaHisThrLeuGlyProThrProSerArgThrGluThrLeuValGluGluThrAlaAlaGluSerSerGluAspAspValValAlaProSerGlnSerLeuLeuSerGlyTyrMetThrProGlyLeuThrProAlaAsnSerGlnAlaSerLysAlaThrProLysLeuAspSerSerProSerValSerSerThrLeuAlaAlaLysAspAspProAspGlyLysGlnGluAlaLysProGlnGlnAlaAlaGlyMetLeuSerProLysThrGlyGlyLysGluAlaAlaSerGlyThrThrProGlnLysSerArgLysProLysLysGlyAlaGlyAsnProGlnAlaSerThrLeuAlaLeuGlnSerAsnIleThrGlnCysLeuLeuGlyGlnProTrpProLeuAsnGluAlaGlnValGlnAlaSerValValLysValLeuThrGluLeuLeuGluGlnGluArgLysLysValValAspThrThrLysGluSerSerArgLysGlyTrpGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712433" } ], "type": "nucleotide" }