{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA117604", "communityStandardTitle": [ "NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20608[alleleid]", "alleleId": 20608, "preferredName": "NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5569", "RCV": [ "RCV000005911" ], "variationId": 5569 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.116617143G>T?assembly=hg19", "id": "chr8:g.116617143G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.115604916G>T?assembly=hg38", "id": "chr8:g.115604916G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908430", "rs": 121908430 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 115604916, "referenceAllele": "G", "start": 115604915 } ], "hgvs": [ "NC_000008.11:g.115604916G>T", "CM000670.2:g.115604916G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 116617143, "referenceAllele": "G", "start": 116617142 } ], "hgvs": [ "NC_000008.10:g.116617143G>T", "CM000670.1:g.116617143G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 116686318, "referenceAllele": "G", "start": 116686317 } ], "hgvs": [ "NC_000008.9:g.116686318G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 69086, "referenceAllele": "C", "start": 69085 } ], "hgvs": [ "NG_012383.3:g.69086C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002387" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "C", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000395715.8:c.1053C>A" ], "proteinEffect": { "hgvs": "ENSP00000379065.3:p.Cys351Ter", "hgvsWellDefined": "ENSP00000379065.3:p.Cys351_Glu1294delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753430", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395715.8:c.1053C>A" }, "RefSeq": { "hgvs": "NM_014112.5:c.1053C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379065.3:p.Cys351Ter" }, "RefSeq": { "hgvs": "NP_054831.2:p.Cys351Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000640765.1:c.1014C>A" ], "proteinEffect": { "hgvs": "ENSP00000492037.1:p.Cys338Ter", "hgvsWellDefined": "ENSP00000492037.1:p.Cys338_Glu1281delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765663" }, { "coordinates": [ { "allele": "A", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000220888.9:c.1014C>A" ], "proteinEffect": { "hgvs": "ENSP00000220888.5:p.Cys338Ter", "hgvsWellDefined": "ENSP00000220888.5:p.Cys338_Glu1281delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248249" }, { "coordinates": [ { "allele": "A", "end": 1631, "referenceAllele": "C", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000395715.7:c.1053C>A" ], "proteinEffect": { "hgvs": "ENSP00000379065.3:p.Cys351Ter", "hgvsWellDefined": "ENSP00000379065.3:p.Cys351_Glu1294delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276851" }, { "coordinates": [ { "allele": "A", "end": 1124, "referenceAllele": "C", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000517323.2:c.1026C>A" ], "proteinEffect": { "hgvs": "ENSP00000430803.2:p.Cys342Ter", "hgvsWellDefined": "ENSP00000430803.2:p.Cys342_Arg691del" }, "referenceSequence": "http://reg.genome.network/refseq/RS345031" }, { "coordinates": [ { "allele": "A", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000519076.5:c.876C>A" ], "proteinEffect": { "hgvs": "ENSP00000428910.1:p.Cys292Ter", "hgvsWellDefined": "ENSP00000428910.1:p.Cys292_Glu1035delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346388" }, { "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000519674.1:c.1014C>A" ], "proteinEffect": { "hgvs": "ENSP00000429174.1:p.Cys338Ter", "hgvsWellDefined": "ENSP00000429174.1:p.Cys338_Leu902delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgValPheGluSerAlaTrpMetThrProGluGluGlnPheSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346880" }, { "coordinates": [ { "allele": "A", "end": 1150, "referenceAllele": "C", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000520276.5:c.1026C>A" ], "proteinEffect": { "hgvs": "ENSP00000428680.1:p.Cys342Ter", "hgvsWellDefined": "ENSP00000428680.1:p.Cys342_Glu1285delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS347350" }, { "@id": "http://reg.genome.network/allele/PA2826672845", "coordinates": [ { "allele": "A", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.2:c.1026C>A" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Cys342Ter", "hgvsWellDefined": "NP_001269831.1:p.Cys342_Glu1285delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022321" }, { "@id": "http://reg.genome.network/allele/PA2826673283", "coordinates": [ { "allele": "A", "end": 1644, "referenceAllele": "C", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282903.2:c.1032C>A" ], "proteinEffect": { "hgvs": "NP_001269832.1:p.Cys344Ter", "hgvsWellDefined": "NP_001269832.1:p.Cys344_Glu1287delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022322" }, { "@id": "http://reg.genome.network/allele/PA117605", "coordinates": [ { "allele": "A", "end": 1658, "referenceAllele": "C", "start": 1657 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_014112.4:c.1053C>A" ], "proteinEffect": { "hgvs": "NP_054831.2:p.Cys351Ter", "hgvsWellDefined": "NP_054831.2:p.Cys351_Glu1294delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032930" }, { "coordinates": [ { "allele": "A", "end": 1473, "referenceAllele": "C", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_005251049.2:c.1014C>A" ], "proteinEffect": { "hgvs": "XP_005251106.1:p.Cys338Ter", "hgvsWellDefined": "XP_005251106.1:p.Cys338_Glu1281delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059401" }, { "coordinates": [ { "allele": "A", "end": 1595, "referenceAllele": "C", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_006716625.1:c.1053C>A" ], "proteinEffect": { "hgvs": "XP_006716688.1:p.Cys351Ter", "hgvsWellDefined": "XP_006716688.1:p.Cys351_Glu1294delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071772" }, { "coordinates": [ { "allele": "A", "end": 1728, "referenceAllele": "C", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517264.1:c.1053C>A" ], "proteinEffect": { "hgvs": "XP_011515566.1:p.Cys351Ter", "hgvsWellDefined": "XP_011515566.1:p.Cys351_Glu1294delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084463" }, { "coordinates": [ { "allele": "A", "end": 1867, "referenceAllele": "C", "start": 1866 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517265.1:c.1053C>A" ], "proteinEffect": { "hgvs": "XP_011515567.1:p.Cys351Ter", "hgvsWellDefined": "XP_011515567.1:p.Cys351_Glu1294delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084464" }, { "coordinates": [ { "allele": "A", "end": 1410, "referenceAllele": "C", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517266.1:c.1053C>A" ], "proteinEffect": { "hgvs": "XP_011515568.1:p.Cys351Ter", "hgvsWellDefined": "XP_011515568.1:p.Cys351_Glu1294delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084465" }, { "coordinates": [ { "allele": "A", "end": 1581, "referenceAllele": "C", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517267.1:c.1032C>A" ], "proteinEffect": { "hgvs": "XP_011515569.1:p.Cys344Ter", "hgvsWellDefined": "XP_011515569.1:p.Cys344_Glu1287delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084466" }, { "coordinates": [ { "allele": "A", "end": 1570, "referenceAllele": "C", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517268.1:c.1014C>A" ], "proteinEffect": { "hgvs": "XP_011515570.1:p.Cys338Ter", "hgvsWellDefined": "XP_011515570.1:p.Cys338_Glu1281delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084467" }, { "@id": "http://reg.genome.network/allele/PA2827334576", "coordinates": [ { "allele": "A", "end": 1500, "referenceAllele": "C", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001330599.1:c.1014C>A" ], "proteinEffect": { "hgvs": "NP_001317528.1:p.Cys338Ter", "hgvsWellDefined": "NP_001317528.1:p.Cys338_Glu1281delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516944" }, { "coordinates": [ { "allele": "A", "end": 1799, "referenceAllele": "C", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517264.2:c.1053C>A" ], "proteinEffect": { "hgvs": "XP_011515566.1:p.Cys351Ter", "hgvsWellDefined": "XP_011515566.1:p.Cys351_Glu1294delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544481" }, { "coordinates": [ { "allele": "A", "end": 1467, "referenceAllele": "C", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517266.3:c.1053C>A" ], "proteinEffect": { "hgvs": "XP_011515568.1:p.Cys351Ter", "hgvsWellDefined": "XP_011515568.1:p.Cys351_Glu1294delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544482" }, { "coordinates": [ { "allele": "A", "end": 1641, "referenceAllele": "C", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517268.2:c.1014C>A" ], "proteinEffect": { "hgvs": "XP_011515570.1:p.Cys338Ter", "hgvsWellDefined": "XP_011515570.1:p.Cys338_Glu1281delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544483" }, { "@id": "http://reg.genome.network/allele/PA2826672845", "coordinates": [ { "allele": "A", "end": 1156, "referenceAllele": "C", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.3:c.1026C>A" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Cys342Ter", "hgvsWellDefined": "NP_001269831.1:p.Cys342_Glu1285delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681936" }, { "@id": "http://reg.genome.network/allele/PA2826673283", "coordinates": [ { "allele": "A", "end": 1591, "referenceAllele": "C", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282903.3:c.1032C>A" ], "proteinEffect": { "hgvs": "NP_001269832.1:p.Cys344Ter", "hgvsWellDefined": "NP_001269832.1:p.Cys344_Glu1287delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681937" }, { "@id": "http://reg.genome.network/allele/PA2827334576", "coordinates": [ { "allele": "A", "end": 1447, "referenceAllele": "C", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001330599.2:c.1014C>A" ], "proteinEffect": { "hgvs": "NP_001317528.1:p.Cys338Ter", "hgvsWellDefined": "NP_001317528.1:p.Cys338_Glu1281delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687024" }, { "@id": "http://reg.genome.network/allele/PA117605", "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "C", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_014112.5:c.1053C>A" ], "proteinEffect": { "hgvs": "NP_054831.2:p.Cys351Ter", "hgvsWellDefined": "NP_054831.2:p.Cys351_Glu1294delinsAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697185", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395715.8:c.1053C>A" }, "RefSeq": { "hgvs": "NM_014112.5:c.1053C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379065.3:p.Cys351Ter" }, "RefSeq": { "hgvs": "NP_054831.2:p.Cys351Ter" } } } } ], "type": "nucleotide" }