{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372495900", "communityStandardTitle": [ "NM_078480.3(PUF60):c.271C>T (p.Gln91Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1678123[alleleid]", "alleleId": 1678123, "preferredName": "NM_078480.3(PUF60):c.271C>T (p.Gln91Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1686112", "RCV": [ "RCV002250279" ], "variationId": 1686112 } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.143821623G>A?assembly=hg38", "id": "chr8:g.143821623G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1464053660", "rs": 1464053660 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 143821623, "referenceAllele": "G", "start": 143821622 } ], "hgvs": [ "NC_000008.11:g.143821623G>A", "CM000670.2:g.143821623G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 144975781, "referenceAllele": "G", "start": 144975780 } ], "hgvs": [ "NC_000008.9:g.144975781G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 12764, "referenceAllele": "C", "start": 12763 } ], "hgvs": [ "NG_033879.1:g.12764C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005565" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000524570.6:n.969C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905638" }, { "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "C", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526151.6:n.302C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905663" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526459.6:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000432610.2:p.Gln90Ter", "hgvsWellDefined": "ENSP00000432610.2:p.Gln93_Ala541delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905668" }, { "coordinates": [ { "allele": "T", "end": 334, "referenceAllele": "C", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527744.6:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000436131.2:p.Gln90Ter", "hgvsWellDefined": "ENSP00000436131.2:p.Gln93_Ala558delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905682" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531951.6:c.142C>T" ], "proteinEffect": { "hgvs": "ENSP00000515500.1:p.Gln48Ter", "hgvsWellDefined": "ENSP00000515500.1:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905721" }, { "coordinates": [ { "allele": "T", "end": 287, "referenceAllele": "C", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000532127.6:c.271C>T" ], "proteinEffect": { "hgvs": "ENSP00000515484.1:p.Gln91Ter", "hgvsWellDefined": "ENSP00000515484.1:p.Gln94_Pro129delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerValAsnArgAsnAlaHisPhePheArgGlySerCysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905722" }, { "coordinates": [ { "allele": "T", "end": 458, "referenceAllele": "C", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533162.2:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000433403.2:p.Gln128Ter", "hgvsWellDefined": "ENSP00000433403.2:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905731" }, { "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533362.2:c.346C>T" ], "proteinEffect": { "hgvs": "ENSP00000515502.1:p.Gln116Ter", "hgvsWellDefined": "ENSP00000515502.1:p.Gln119_Ala584delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905735" }, { "coordinates": [ { "allele": "T", "end": 1033, "referenceAllele": "C", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703744.1:n.1033C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911916" }, { "coordinates": [ { "allele": "T", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703803.1:n.419C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911953" }, { "coordinates": [ { "allele": "T", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703846.1:c.142C>T" ], "proteinEffect": { "hgvs": "ENSP00000515498.1:p.Gln48Ter", "hgvsWellDefined": "ENSP00000515498.1:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911968" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "C", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703847.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000515499.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000515499.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911969" }, { "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "C", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703848.1:n.302C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911970" }, { "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703849.1:c.142C>T" ], "proteinEffect": { "hgvs": "ENSP00000515501.1:p.Gln48Ter", "hgvsWellDefined": "ENSP00000515501.1:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911971" }, { "coordinates": [ { "allele": "T", "end": 497, "referenceAllele": "C", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703850.1:c.346C>T" ], "proteinEffect": { "hgvs": "ENSP00000515503.1:p.Gln116Ter", "hgvsWellDefined": "ENSP00000515503.1:p.Gln119_Ala584delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911972" }, { "coordinates": [ { "allele": "T", "end": 191, "referenceAllele": "C", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703851.1:n.191C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911973" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "C", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703852.1:c.*245C>T" ], "proteinEffect": { "hgvs": "ENSP00000515504.1:n.*245C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911974" }, { "coordinates": [ { "allele": "T", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703853.1:n.185C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911975" }, { "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703866.1:c.271C>T" ], "proteinEffect": { "hgvs": "ENSP00000515511.1:p.Gln91Ter", "hgvsWellDefined": "ENSP00000515511.1:p.Gln94_Ala559delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911982" }, { "coordinates": [ { "allele": "T", "end": 283, "referenceAllele": "C", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526683.6:c.271C>T" ], "proteinEffect": { "hgvs": "ENSP00000434359.1:p.Gln91Ter", "hgvsWellDefined": "ENSP00000434359.1:p.Gln94_Ala559delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758977", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000526683.6:c.271C>T" }, "RefSeq": { "hgvs": "NM_078480.3:c.271C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000434359.1:p.Gln91Ter" }, "RefSeq": { "hgvs": "NP_510965.1:p.Gln91Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000313352.11:c.142C>T" ], "proteinEffect": { "hgvs": "ENSP00000322016.7:p.Gln48Ter", "hgvsWellDefined": "ENSP00000322016.7:p.Gln51_Ala499delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256802" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "C", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000349157.10:c.271C>T" ], "proteinEffect": { "hgvs": "ENSP00000322036.7:p.Gln91Ter", "hgvsWellDefined": "ENSP00000322036.7:p.Gln94_Ala542delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262556" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000453551.6:c.142C>T" ], "proteinEffect": { "hgvs": "ENSP00000402953.2:p.Gln48Ter", "hgvsWellDefined": "ENSP00000402953.2:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302164" }, { "coordinates": [ { "allele": "T", "end": 184, "referenceAllele": "C", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000456095.6:c.184C>T" ], "proteinEffect": { "hgvs": "ENSP00000395417.2:p.Gln62Ter", "hgvsWellDefined": "ENSP00000395417.2:p.Gln65_Ala530delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303334" }, { "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000524570.5:n.957C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS350706" }, { "coordinates": [ { "allele": "T", "end": 283, "referenceAllele": "C", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526151.5:n.283C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS352062" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526459.5:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000432610.1:p.Gln90Ter", "hgvsWellDefined": "ENSP00000432610.1:p.Gln90_Thr323del" }, "referenceSequence": "http://reg.genome.network/refseq/RS352323" }, { "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526683.5:c.271C>T" ], "proteinEffect": { "hgvs": "ENSP00000434359.1:p.Gln91Ter", "hgvsWellDefined": "ENSP00000434359.1:p.Gln94_Ala559delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS352505" }, { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "C", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527197.5:c.184C>T" ], "proteinEffect": { "hgvs": "ENSP00000431960.1:p.Gln62Ter", "hgvsWellDefined": "ENSP00000431960.1:p.Gln65_Ala513delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS352945" }, { "coordinates": [ { "allele": "T", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527584.5:n.308C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS353261" }, { "coordinates": [ { "allele": "T", "end": 264, "referenceAllele": "C", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527744.5:c.264C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS353391" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000528320.5:n.247C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS353877" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000529999.5:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000434863.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000434863.1:p.Gln128_Lys263del" }, "referenceSequence": "http://reg.genome.network/refseq/RS355322" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531897.5:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000437309.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000437309.1:p.Gln128Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS356909" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531951.5:n.431C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS356955" }, { "coordinates": [ { "allele": "T", "end": 121, "referenceAllele": "C", "start": 120 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531995.1:n.121C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS356992" }, { "coordinates": [ { "allele": "T", "end": 287, "referenceAllele": "C", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000532127.5:n.287C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS357107" }, { "coordinates": [ { "allele": "T", "end": 458, "referenceAllele": "C", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533162.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000433403.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000433403.1:p.Gln128Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS357975" }, { "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533362.1:n.590C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358145" }, { "@id": "http://reg.genome.network/allele/PA2825813077", "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001136033.2:c.142C>T" ], "proteinEffect": { "hgvs": "NP_001129505.1:p.Gln48Ter", "hgvsWellDefined": "NP_001129505.1:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012577" }, { "@id": "http://reg.genome.network/allele/PA2826532358", "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271096.1:c.268C>T" ], "proteinEffect": { "hgvs": "NP_001258025.1:p.Gln90Ter", "hgvsWellDefined": "NP_001258025.1:p.Gln93_Ala541delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020492" }, { "@id": "http://reg.genome.network/allele/PA2826532466", "coordinates": [ { "allele": "T", "end": 267, "referenceAllele": "C", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271097.1:c.184C>T" ], "proteinEffect": { "hgvs": "NP_001258026.1:p.Gln62Ter", "hgvsWellDefined": "NP_001258026.1:p.Gln65_Ala513delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020493" }, { "@id": "http://reg.genome.network/allele/PA2826532584", "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271098.1:c.268C>T" ], "proteinEffect": { "hgvs": "NP_001258027.1:p.Gln90Ter", "hgvsWellDefined": "NP_001258027.1:p.Gln93_Ala558delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020494" }, { "@id": "http://reg.genome.network/allele/PA2826532692", "coordinates": [ { "allele": "T", "end": 267, "referenceAllele": "C", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271099.1:c.184C>T" ], "proteinEffect": { "hgvs": "NP_001258028.1:p.Gln62Ter", "hgvsWellDefined": "NP_001258028.1:p.Gln65_Ala530delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020495" }, { "@id": "http://reg.genome.network/allele/PA2826532794", "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271100.1:c.142C>T" ], "proteinEffect": { "hgvs": "NP_001258029.1:p.Gln48Ter", "hgvsWellDefined": "NP_001258029.1:p.Gln51_Ala499delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020496" }, { "@id": "http://reg.genome.network/allele/PA2829756590", "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_014281.4:c.271C>T" ], "proteinEffect": { "hgvs": "NP_055096.2:p.Gln91Ter", "hgvsWellDefined": "NP_055096.2:p.Gln94_Ala542delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033043" }, { "@id": "http://reg.genome.network/allele/PA2573297249", "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_078480.2:c.271C>T" ], "proteinEffect": { "hgvs": "NP_510965.1:p.Gln91Ter", "hgvsWellDefined": "NP_510965.1:p.Gln94_Ala559delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040121" }, { "coordinates": [ { "allele": "T", "end": 558, "referenceAllele": "C", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_011516929.1:c.382C>T" ], "proteinEffect": { "hgvs": "XP_011515231.1:p.Gln128Ter", "hgvsWellDefined": "XP_011515231.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084128" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_011516930.1:c.382C>T" ], "proteinEffect": { "hgvs": "XP_011515232.1:p.Gln128Ter", "hgvsWellDefined": "XP_011515232.1:p.Gln131_Ala579delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084129" }, { "@id": "http://reg.genome.network/allele/PA2828070226", "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362895.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001349824.1:p.Gln128Ter", "hgvsWellDefined": "NP_001349824.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523097" }, { "@id": "http://reg.genome.network/allele/PA2828070344", "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362896.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001349825.1:p.Gln128Ter", "hgvsWellDefined": "NP_001349825.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523098" }, { "@id": "http://reg.genome.network/allele/PA2828070393", "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362897.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001349826.1:p.Gln128Ter", "hgvsWellDefined": "NP_001349826.1:p.Gln131_Ala579delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523099" }, { "coordinates": [ { "allele": "T", "end": 1886, "referenceAllele": "C", "start": 1885 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013234.1:c.382C>T" ], "proteinEffect": { "hgvs": "XP_016868723.1:p.Gln128Ter", "hgvsWellDefined": "XP_016868723.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566596" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013235.1:c.346C>T" ], "proteinEffect": { "hgvs": "XP_016868724.1:p.Gln116Ter", "hgvsWellDefined": "XP_016868724.1:p.Gln119_Ala584delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566597" }, { "coordinates": [ { "allele": "T", "end": 1886, "referenceAllele": "C", "start": 1885 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013236.1:c.382C>T" ], "proteinEffect": { "hgvs": "XP_016868725.1:p.Gln128Ter", "hgvsWellDefined": "XP_016868725.1:p.Gln131_Ala579delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566598" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013239.1:c.142C>T" ], "proteinEffect": { "hgvs": "XP_016868728.1:p.Gln48Ter", "hgvsWellDefined": "XP_016868728.1:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566599" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013240.1:c.142C>T" ], "proteinEffect": { "hgvs": "XP_016868729.1:p.Gln48Ter", "hgvsWellDefined": "XP_016868729.1:p.Gln51_Ala499delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566600" }, { "@id": "http://reg.genome.network/allele/PA2825813077", "coordinates": [ { "allele": "T", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001136033.3:c.142C>T" ], "proteinEffect": { "hgvs": "NP_001129505.1:p.Gln48Ter", "hgvsWellDefined": "NP_001129505.1:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677385" }, { "@id": "http://reg.genome.network/allele/PA2826532358", "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271096.2:c.268C>T" ], "proteinEffect": { "hgvs": "NP_001258025.1:p.Gln90Ter", "hgvsWellDefined": "NP_001258025.1:p.Gln93_Ala541delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681114" }, { "@id": "http://reg.genome.network/allele/PA2826532466", "coordinates": [ { "allele": "T", "end": 196, "referenceAllele": "C", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271097.2:c.184C>T" ], "proteinEffect": { "hgvs": "NP_001258026.1:p.Gln62Ter", "hgvsWellDefined": "NP_001258026.1:p.Gln65_Ala513delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681115" }, { "@id": "http://reg.genome.network/allele/PA2826532584", "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271098.2:c.268C>T" ], "proteinEffect": { "hgvs": "NP_001258027.1:p.Gln90Ter", "hgvsWellDefined": "NP_001258027.1:p.Gln93_Ala558delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681116" }, { "@id": "http://reg.genome.network/allele/PA2826532692", "coordinates": [ { "allele": "T", "end": 196, "referenceAllele": "C", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271099.2:c.184C>T" ], "proteinEffect": { "hgvs": "NP_001258028.1:p.Gln62Ter", "hgvsWellDefined": "NP_001258028.1:p.Gln65_Ala530delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681117" }, { "@id": "http://reg.genome.network/allele/PA2826532794", "coordinates": [ { "allele": "T", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271100.2:c.142C>T" ], "proteinEffect": { "hgvs": "NP_001258029.1:p.Gln48Ter", "hgvsWellDefined": "NP_001258029.1:p.Gln51_Ala499delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681118" }, { "@id": "http://reg.genome.network/allele/PA2828070226", "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362895.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001349824.1:p.Gln128Ter", "hgvsWellDefined": "NP_001349824.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690565" }, { "@id": "http://reg.genome.network/allele/PA2828070344", "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "C", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362896.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001349825.1:p.Gln128Ter", "hgvsWellDefined": "NP_001349825.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690566" }, { "@id": "http://reg.genome.network/allele/PA2828070393", "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362897.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001349826.1:p.Gln128Ter", "hgvsWellDefined": "NP_001349826.1:p.Gln131_Ala579delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690567" }, { "@id": "http://reg.genome.network/allele/PA2829756590", "coordinates": [ { "allele": "T", "end": 283, "referenceAllele": "C", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_014281.5:c.271C>T" ], "proteinEffect": { "hgvs": "NP_055096.2:p.Gln91Ter", "hgvsWellDefined": "NP_055096.2:p.Gln94_Ala542delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697222" }, { "@id": "http://reg.genome.network/allele/PA2573297249", "coordinates": [ { "allele": "T", "end": 283, "referenceAllele": "C", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_078480.3:c.271C>T" ], "proteinEffect": { "hgvs": "NP_510965.1:p.Gln91Ter", "hgvsWellDefined": "NP_510965.1:p.Gln94_Ala559delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699498", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000526683.6:c.271C>T" }, "RefSeq": { "hgvs": "NM_078480.3:c.271C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000434359.1:p.Gln91Ter" }, "RefSeq": { "hgvs": "NP_510965.1:p.Gln91Ter" } } } } ], "type": "nucleotide" }