{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10603090", "communityStandardTitle": [ "NM_078480.3(PUF60):c.485G>A (p.Trp162Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264395[alleleid]", "alleleId": 264395, "preferredName": "NM_078480.3(PUF60):c.485G>A (p.Trp162Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280867", "RCV": [ "RCV000291225" ], "variationId": 280867 } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.143818398C>T?assembly=hg38", "id": "chr8:g.143818398C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886041995", "rs": 886041995 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 143818398, "referenceAllele": "C", "start": 143818397 } ], "hgvs": [ "NC_000008.11:g.143818398C>T", "CM000670.2:g.143818398C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 144972556, "referenceAllele": "C", "start": 144972555 } ], "hgvs": [ "NC_000008.9:g.144972556C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 1982, "referenceAllele": "G", "start": 1981 } ], "hgvs": [ "NG_030583.1:g.1982G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004958" }, { "coordinates": [ { "allele": "A", "end": 15989, "referenceAllele": "G", "start": 15988 } ], "hgvs": [ "NG_033879.1:g.15989G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005565" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1183, "referenceAllele": "G", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000524570.6:n.1183G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905638" }, { "coordinates": [ { "allele": "A", "end": 2540, "referenceAllele": "G", "start": 2539 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526151.6:n.2540G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905663" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526459.6:c.431G>A" ], "proteinEffect": { "hgvs": "ENSP00000432610.2:p.Trp144Ter", "hgvsWellDefined": "ENSP00000432610.2:p.Trp144_Ala541delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905668" }, { "coordinates": [ { "allele": "A", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527744.6:c.482G>A" ], "proteinEffect": { "hgvs": "ENSP00000436131.2:p.Trp161Ter", "hgvsWellDefined": "ENSP00000436131.2:p.Trp161_Ala558delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905682" }, { "coordinates": [ { "allele": "A", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531951.6:c.356G>A" ], "proteinEffect": { "hgvs": "ENSP00000515500.1:p.Trp119Ter", "hgvsWellDefined": "ENSP00000515500.1:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905721" }, { "coordinates": [ { "allele": "A", "end": 736, "referenceAllele": "G", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000532127.6:c.*330G>A" ], "proteinEffect": { "hgvs": "ENSP00000515484.1:n.*330G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905722" }, { "coordinates": [ { "allele": "A", "end": 672, "referenceAllele": "G", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533162.2:c.596G>A" ], "proteinEffect": { "hgvs": "ENSP00000433403.2:p.Trp199Ter", "hgvsWellDefined": "ENSP00000433403.2:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905731" }, { "coordinates": [ { "allele": "A", "end": 804, "referenceAllele": "G", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533362.2:c.560G>A" ], "proteinEffect": { "hgvs": "ENSP00000515502.1:p.Trp187Ter", "hgvsWellDefined": "ENSP00000515502.1:p.Trp187_Ala584delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905735" }, { "coordinates": [ { "allele": "A", "end": 1196, "referenceAllele": "G", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703744.1:n.1196G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911916" }, { "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703803.1:n.633G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911953" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703846.1:c.356G>A" ], "proteinEffect": { "hgvs": "ENSP00000515498.1:p.Trp119Ter", "hgvsWellDefined": "ENSP00000515498.1:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911968" }, { "coordinates": [ { "allele": "A", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703847.1:c.596G>A" ], "proteinEffect": { "hgvs": "ENSP00000515499.1:p.Trp199Ter", "hgvsWellDefined": "ENSP00000515499.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911969" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703848.1:n.516G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911970" }, { "coordinates": [ { "allele": "A", "end": 652, "referenceAllele": "G", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703849.1:c.356G>A" ], "proteinEffect": { "hgvs": "ENSP00000515501.1:p.Trp119Ter", "hgvsWellDefined": "ENSP00000515501.1:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911971" }, { "coordinates": [ { "allele": "A", "end": 711, "referenceAllele": "G", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703850.1:c.560G>A" ], "proteinEffect": { "hgvs": "ENSP00000515503.1:p.Trp187Ter", "hgvsWellDefined": "ENSP00000515503.1:p.Trp187_Ala584delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" 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"http://reg.genome.network/refseq/RS911975" }, { "coordinates": [ { "allele": "A", "end": 1332, "referenceAllele": "G", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703866.1:c.485G>A" ], "proteinEffect": { "hgvs": "ENSP00000515511.1:p.Trp162Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS758977", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000526683.6:c.485G>A" }, "RefSeq": { "hgvs": "NM_078480.3:c.485G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000434359.1:p.Trp162Ter" }, "RefSeq": { "hgvs": "NP_510965.1:p.Trp162Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000313352.11:c.305G>A" ], "proteinEffect": { "hgvs": "ENSP00000322016.7:p.Trp102Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS256802" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "G", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000349157.10:c.434G>A" ], "proteinEffect": { "hgvs": "ENSP00000322036.7:p.Trp145Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS302164" }, { "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "G", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000456095.6:c.398G>A" ], "proteinEffect": { "hgvs": "ENSP00000395417.2:p.Trp133Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS303334" }, { "coordinates": [ { "allele": "A", "end": 1171, "referenceAllele": "G", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000524570.5:n.1171G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS350706" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526459.5:c.431G>A" ], "proteinEffect": { "hgvs": "ENSP00000432610.1:p.Trp144Ter", "hgvsWellDefined": "ENSP00000432610.1:p.Trp144_Thr323del" }, "referenceSequence": "http://reg.genome.network/refseq/RS352323" }, { "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ 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"allele": "A", "end": 587, "referenceAllele": "G", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531897.5:c.545G>A" ], "proteinEffect": { "hgvs": "ENSP00000437309.1:p.Trp182Ter", "hgvsWellDefined": "ENSP00000437309.1:p.Trp182Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS356909" }, { "coordinates": [ { "allele": "A", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531951.5:n.645G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS356955" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000532884.1:c.79G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS357736" }, { "coordinates": [ { "allele": "A", "end": 672, "referenceAllele": "G", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533162.1:c.596G>A" ], "proteinEffect": { "hgvs": "ENSP00000433403.1:p.Trp199Ter", "hgvsWellDefined": "ENSP00000433403.1:p.Trp199Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS357975" }, { "@id": "http://reg.genome.network/allele/PA2825813105", "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "G", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001136033.2:c.356G>A" ], "proteinEffect": { "hgvs": "NP_001129505.1:p.Trp119Ter", "hgvsWellDefined": "NP_001129505.1:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012577" }, { "@id": "http://reg.genome.network/allele/PA2826532373", "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "G", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271096.1:c.431G>A" ], "proteinEffect": { "hgvs": "NP_001258025.1:p.Trp144Ter", "hgvsWellDefined": "NP_001258025.1:p.Trp144_Ala541delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020492" }, { "@id": "http://reg.genome.network/allele/PA2826532481", "coordinates": [ { "allele": "A", "end": 430, "referenceAllele": "G", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271097.1:c.347G>A" ], "proteinEffect": { "hgvs": "NP_001258026.1:p.Trp116Ter", "hgvsWellDefined": "NP_001258026.1:p.Trp116_Ala513delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020493" }, { "@id": "http://reg.genome.network/allele/PA2826532599", "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "G", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271098.1:c.482G>A" ], "proteinEffect": { "hgvs": "NP_001258027.1:p.Trp161Ter", "hgvsWellDefined": "NP_001258027.1:p.Trp161_Ala558delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020494" }, { "@id": "http://reg.genome.network/allele/PA2826532705", "coordinates": [ { "allele": "A", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271099.1:c.398G>A" ], "proteinEffect": { "hgvs": "NP_001258028.1:p.Trp133Ter", "hgvsWellDefined": "NP_001258028.1:p.Trp133_Ala530delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020495" }, { "@id": "http://reg.genome.network/allele/PA2826532804", "coordinates": [ { "allele": "A", "end": 536, "referenceAllele": "G", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271100.1:c.305G>A" ], "proteinEffect": { "hgvs": "NP_001258029.1:p.Trp102Ter", "hgvsWellDefined": "NP_001258029.1:p.Trp102_Ala499delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020496" }, { "@id": "http://reg.genome.network/allele/PA2829756630", "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "G", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_014281.4:c.434G>A" ], "proteinEffect": { "hgvs": "NP_055096.2:p.Trp145Ter", "hgvsWellDefined": "NP_055096.2:p.Trp145_Ala542delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033043" }, { "@id": "http://reg.genome.network/allele/PA645495275", "coordinates": [ { "allele": "A", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_078480.2:c.485G>A" ], "proteinEffect": { "hgvs": "NP_510965.1:p.Trp162Ter", "hgvsWellDefined": "NP_510965.1:p.Trp162_Ala559delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040121" }, { "coordinates": [ { "allele": "A", "end": 772, "referenceAllele": "G", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_011516929.1:c.596G>A" ], "proteinEffect": { "hgvs": "XP_011515231.1:p.Trp199Ter", "hgvsWellDefined": "XP_011515231.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084128" }, { "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_011516930.1:c.545G>A" ], "proteinEffect": { "hgvs": "XP_011515232.1:p.Trp182Ter", "hgvsWellDefined": "XP_011515232.1:p.Trp182_Ala579delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084129" }, { "@id": "http://reg.genome.network/allele/PA2828070241", "coordinates": [ { "allele": "A", "end": 739, "referenceAllele": "G", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362895.1:c.596G>A" ], "proteinEffect": { "hgvs": "NP_001349824.1:p.Trp199Ter", "hgvsWellDefined": "NP_001349824.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523097" }, { "@id": "http://reg.genome.network/allele/PA916043615", "coordinates": [ { "allele": "A", "end": 902, "referenceAllele": "G", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362896.1:c.596G>A" ], "proteinEffect": { "hgvs": "NP_001349825.1:p.Trp199Ter", "hgvsWellDefined": "NP_001349825.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523098" }, { "@id": "http://reg.genome.network/allele/PA2828070408", "coordinates": [ { "allele": "A", "end": 688, "referenceAllele": "G", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362897.1:c.545G>A" ], "proteinEffect": { "hgvs": "NP_001349826.1:p.Trp182Ter", "hgvsWellDefined": "NP_001349826.1:p.Trp182_Ala579delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523099" }, { "coordinates": [ { "allele": "A", "end": 2100, "referenceAllele": "G", "start": 2099 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013234.1:c.596G>A" ], "proteinEffect": { "hgvs": "XP_016868723.1:p.Trp199Ter", "hgvsWellDefined": "XP_016868723.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566596" }, { "coordinates": [ { "allele": "A", "end": 670, "referenceAllele": "G", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013235.1:c.560G>A" ], "proteinEffect": { "hgvs": "XP_016868724.1:p.Trp187Ter", "hgvsWellDefined": "XP_016868724.1:p.Trp187_Ala584delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566597" }, { "coordinates": [ { "allele": "A", "end": 2049, "referenceAllele": "G", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013236.1:c.545G>A" ], "proteinEffect": { "hgvs": "XP_016868725.1:p.Trp182Ter", "hgvsWellDefined": "XP_016868725.1:p.Trp182_Ala579delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566598" }, { "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "G", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013239.1:c.356G>A" ], "proteinEffect": { "hgvs": "XP_016868728.1:p.Trp119Ter", "hgvsWellDefined": "XP_016868728.1:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566599" }, { "coordinates": [ { "allele": "A", "end": 544, "referenceAllele": "G", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013240.1:c.305G>A" ], "proteinEffect": { "hgvs": "XP_016868729.1:p.Trp102Ter", "hgvsWellDefined": "XP_016868729.1:p.Trp102_Ala499delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566600" }, { "@id": "http://reg.genome.network/allele/PA2825813105", "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001136033.3:c.356G>A" ], "proteinEffect": { "hgvs": "NP_001129505.1:p.Trp119Ter", "hgvsWellDefined": "NP_001129505.1:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677385" }, { "@id": "http://reg.genome.network/allele/PA2826532373", "coordinates": [ { "allele": "A", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271096.2:c.431G>A" ], "proteinEffect": { "hgvs": "NP_001258025.1:p.Trp144Ter", "hgvsWellDefined": "NP_001258025.1:p.Trp144_Ala541delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681114" }, { "@id": "http://reg.genome.network/allele/PA2826532481", "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271097.2:c.347G>A" ], "proteinEffect": { "hgvs": "NP_001258026.1:p.Trp116Ter", "hgvsWellDefined": "NP_001258026.1:p.Trp116_Ala513delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681115" }, { "@id": "http://reg.genome.network/allele/PA2826532599", "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "G", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271098.2:c.482G>A" ], "proteinEffect": { "hgvs": "NP_001258027.1:p.Trp161Ter", "hgvsWellDefined": "NP_001258027.1:p.Trp161_Ala558delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681116" }, { "@id": "http://reg.genome.network/allele/PA2826532705", "coordinates": [ { "allele": "A", "end": 410, "referenceAllele": "G", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271099.2:c.398G>A" ], "proteinEffect": { "hgvs": "NP_001258028.1:p.Trp133Ter", "hgvsWellDefined": "NP_001258028.1:p.Trp133_Ala530delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681117" }, { "@id": "http://reg.genome.network/allele/PA2826532804", "coordinates": [ { "allele": "A", "end": 468, "referenceAllele": "G", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271100.2:c.305G>A" ], "proteinEffect": { "hgvs": "NP_001258029.1:p.Trp102Ter", "hgvsWellDefined": "NP_001258029.1:p.Trp102_Ala499delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681118" }, { "@id": "http://reg.genome.network/allele/PA2828070241", "coordinates": [ { "allele": "A", "end": 671, "referenceAllele": "G", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362895.2:c.596G>A" ], "proteinEffect": { "hgvs": "NP_001349824.1:p.Trp199Ter", "hgvsWellDefined": "NP_001349824.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690565" }, { "@id": "http://reg.genome.network/allele/PA916043615", "coordinates": [ { "allele": "A", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362896.2:c.596G>A" ], "proteinEffect": { "hgvs": "NP_001349825.1:p.Trp199Ter", "hgvsWellDefined": "NP_001349825.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690566" }, { "@id": "http://reg.genome.network/allele/PA2828070408", "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362897.2:c.545G>A" ], "proteinEffect": { "hgvs": "NP_001349826.1:p.Trp182Ter", "hgvsWellDefined": "NP_001349826.1:p.Trp182_Ala579delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690567" }, { "@id": "http://reg.genome.network/allele/PA2829756630", "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_014281.5:c.434G>A" ], "proteinEffect": { "hgvs": "NP_055096.2:p.Trp145Ter", "hgvsWellDefined": "NP_055096.2:p.Trp145_Ala542delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697222" }, { "@id": "http://reg.genome.network/allele/PA645495275", "coordinates": [ { "allele": "A", "end": 497, "referenceAllele": "G", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_078480.3:c.485G>A" ], "proteinEffect": { "hgvs": "NP_510965.1:p.Trp162Ter", "hgvsWellDefined": "NP_510965.1:p.Trp162_Ala559delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699498", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000526683.6:c.485G>A" }, "RefSeq": { "hgvs": "NM_078480.3:c.485G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000434359.1:p.Trp162Ter" }, "RefSeq": { "hgvs": "NP_510965.1:p.Trp162Ter" } } } } ], "type": "nucleotide" }