{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372068582", "communityStandardTitle": [ "NM_014112.5(TRPS1):c.913C>T (p.Gln305Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4736704", "active": true, "id": "COSM4736704" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4736705", "active": true, "id": "COSM4736705" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061192[alleleid]", "alleleId": 1061192, "preferredName": "NM_014112.5(TRPS1):c.913C>T (p.Gln305Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1069769", "RCV": [ "RCV001381734" ], "variationId": 1069769 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.116631412G>A?assembly=hg19", "id": "chr8:g.116631412G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.115619185G>A?assembly=hg38", "id": "chr8:g.115619185G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1297221126", "rs": 1297221126 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 115619185, "referenceAllele": "G", "start": 115619184 } ], "hgvs": [ "NC_000008.11:g.115619185G>A", "CM000670.2:g.115619185G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 116631412, "referenceAllele": "G", "start": 116631411 } ], "hgvs": [ "NC_000008.10:g.116631412G>A", "CM000670.1:g.116631412G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 116700587, "referenceAllele": "G", "start": 116700586 } ], "hgvs": [ "NC_000008.9:g.116700587G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 54817, "referenceAllele": "C", "start": 54816 } ], "hgvs": [ "NG_012383.3:g.54817C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002387" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "C", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000395715.8:c.913C>T" ], "proteinEffect": { "hgvs": "ENSP00000379065.3:p.Gln305Ter", "hgvsWellDefined": "ENSP00000379065.3:p.Gln305_Glu1294delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753430", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395715.8:c.913C>T" }, "RefSeq": { "hgvs": "NM_014112.5:c.913C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379065.3:p.Gln305Ter" }, "RefSeq": { "hgvs": "NP_054831.2:p.Gln305Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1015, "referenceAllele": "C", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000640765.1:c.874C>T" ], "proteinEffect": { "hgvs": "ENSP00000492037.1:p.Gln292Ter", "hgvsWellDefined": "ENSP00000492037.1:p.Gln292_Glu1281delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765663" }, { "coordinates": [ { "allele": "T", "end": 1034, "referenceAllele": "C", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000220888.9:c.874C>T" ], "proteinEffect": { "hgvs": "ENSP00000220888.5:p.Gln292Ter", "hgvsWellDefined": "ENSP00000220888.5:p.Gln292_Glu1281delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248249" }, { "coordinates": [ { "allele": "T", "end": 1491, "referenceAllele": "C", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000395715.7:c.913C>T" ], "proteinEffect": { "hgvs": "ENSP00000379065.3:p.Gln305Ter", "hgvsWellDefined": "ENSP00000379065.3:p.Gln305_Glu1294delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276851" }, { "coordinates": [ { "allele": "T", "end": 984, "referenceAllele": "C", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000517323.2:c.886C>T" ], "proteinEffect": { "hgvs": "ENSP00000430803.2:p.Gln296Ter", "hgvsWellDefined": "ENSP00000430803.2:p.Gln296_Arg691del" }, "referenceSequence": "http://reg.genome.network/refseq/RS345031" }, { "coordinates": [ { "allele": "T", "end": 748, "referenceAllele": "C", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000519076.5:c.736C>T" ], "proteinEffect": { "hgvs": "ENSP00000428910.1:p.Gln246Ter", "hgvsWellDefined": "ENSP00000428910.1:p.Gln246_Glu1035delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346388" }, { "coordinates": [ { "allele": "T", "end": 1235, "referenceAllele": "C", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000519674.1:c.874C>T" ], "proteinEffect": { "hgvs": "ENSP00000429174.1:p.Gln292Ter", "hgvsWellDefined": "ENSP00000429174.1:p.Gln292_Leu902delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgValPheGluSerAlaTrpMetThrProGluGluGlnPheSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346880" }, { "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000520276.5:c.886C>T" ], "proteinEffect": { "hgvs": "ENSP00000428680.1:p.Gln296Ter", "hgvsWellDefined": "ENSP00000428680.1:p.Gln296_Glu1285delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS347350" }, { "@id": "http://reg.genome.network/allele/PA2826672831", "coordinates": [ { "allele": "T", "end": 1015, "referenceAllele": "C", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.2:c.886C>T" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Gln296Ter", "hgvsWellDefined": "NP_001269831.1:p.Gln296_Glu1285delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022321" }, { "@id": "http://reg.genome.network/allele/PA2826673269", "coordinates": [ { "allele": "T", "end": 1504, "referenceAllele": "C", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282903.2:c.892C>T" ], "proteinEffect": { "hgvs": "NP_001269832.1:p.Gln298Ter", "hgvsWellDefined": "NP_001269832.1:p.Gln298_Glu1287delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022322" }, { "@id": "http://reg.genome.network/allele/PA2499277650", "coordinates": [ { "allele": "T", "end": 1518, "referenceAllele": "C", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_014112.4:c.913C>T" ], "proteinEffect": { "hgvs": "NP_054831.2:p.Gln305Ter", "hgvsWellDefined": "NP_054831.2:p.Gln305_Glu1294delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032930" }, { "coordinates": [ { "allele": "T", "end": 1333, "referenceAllele": "C", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_005251049.2:c.874C>T" ], "proteinEffect": { "hgvs": "XP_005251106.1:p.Gln292Ter", "hgvsWellDefined": "XP_005251106.1:p.Gln292_Glu1281delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059401" }, { "coordinates": [ { "allele": "T", "end": 1455, "referenceAllele": "C", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_006716625.1:c.913C>T" ], "proteinEffect": { "hgvs": "XP_006716688.1:p.Gln305Ter", "hgvsWellDefined": "XP_006716688.1:p.Gln305_Glu1294delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071772" }, { "coordinates": [ { "allele": "T", "end": 1588, "referenceAllele": "C", "start": 1587 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517264.1:c.913C>T" ], "proteinEffect": { "hgvs": "XP_011515566.1:p.Gln305Ter", "hgvsWellDefined": "XP_011515566.1:p.Gln305_Glu1294delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084463" }, { "coordinates": [ { "allele": "T", "end": 1727, "referenceAllele": "C", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517265.1:c.913C>T" ], "proteinEffect": { "hgvs": "XP_011515567.1:p.Gln305Ter", "hgvsWellDefined": "XP_011515567.1:p.Gln305_Glu1294delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084464" }, { "coordinates": [ { "allele": "T", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517266.1:c.913C>T" ], "proteinEffect": { "hgvs": "XP_011515568.1:p.Gln305Ter", "hgvsWellDefined": "XP_011515568.1:p.Gln305_Glu1294delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084465" }, { "coordinates": [ { "allele": "T", "end": 1441, "referenceAllele": "C", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517267.1:c.892C>T" ], "proteinEffect": { "hgvs": "XP_011515569.1:p.Gln298Ter", "hgvsWellDefined": "XP_011515569.1:p.Gln298_Glu1287delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084466" }, { "coordinates": [ { "allele": "T", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517268.1:c.874C>T" ], "proteinEffect": { "hgvs": "XP_011515570.1:p.Gln292Ter", "hgvsWellDefined": "XP_011515570.1:p.Gln292_Glu1281delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084467" }, { "@id": "http://reg.genome.network/allele/PA2827334555", "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "C", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001330599.1:c.874C>T" ], "proteinEffect": { "hgvs": "NP_001317528.1:p.Gln292Ter", "hgvsWellDefined": "NP_001317528.1:p.Gln292_Glu1281delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516944" }, { "coordinates": [ { "allele": "T", "end": 1659, "referenceAllele": "C", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517264.2:c.913C>T" ], "proteinEffect": { "hgvs": "XP_011515566.1:p.Gln305Ter", "hgvsWellDefined": "XP_011515566.1:p.Gln305_Glu1294delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544481" }, { "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517266.3:c.913C>T" ], "proteinEffect": { "hgvs": "XP_011515568.1:p.Gln305Ter", "hgvsWellDefined": "XP_011515568.1:p.Gln305_Glu1294delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544482" }, { "coordinates": [ { "allele": "T", "end": 1501, "referenceAllele": "C", "start": 1500 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517268.2:c.874C>T" ], "proteinEffect": { "hgvs": "XP_011515570.1:p.Gln292Ter", "hgvsWellDefined": "XP_011515570.1:p.Gln292_Glu1281delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544483" }, { "@id": "http://reg.genome.network/allele/PA2826672831", "coordinates": [ { "allele": "T", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.3:c.886C>T" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Gln296Ter", "hgvsWellDefined": "NP_001269831.1:p.Gln296_Glu1285delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681936" }, { "@id": "http://reg.genome.network/allele/PA2826673269", "coordinates": [ { "allele": "T", "end": 1451, "referenceAllele": "C", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282903.3:c.892C>T" ], "proteinEffect": { "hgvs": "NP_001269832.1:p.Gln298Ter", "hgvsWellDefined": "NP_001269832.1:p.Gln298_Glu1287delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681937" }, { "@id": "http://reg.genome.network/allele/PA2827334555", "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001330599.2:c.874C>T" ], "proteinEffect": { "hgvs": "NP_001317528.1:p.Gln292Ter", "hgvsWellDefined": "NP_001317528.1:p.Gln292_Glu1281delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687024" }, { "@id": "http://reg.genome.network/allele/PA2499277650", "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "C", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_014112.5:c.913C>T" ], "proteinEffect": { "hgvs": "NP_054831.2:p.Gln305Ter", "hgvsWellDefined": "NP_054831.2:p.Gln305_Glu1294delinsAspIleAsnSerSerArgProValLeuLeuAsnGlyThrTyrAspValGlnValThrSerGlyGlyThrPheIleGlyIleGlyArgLysThrProAspCysGlnGlyAsnThrLysTyrPheArgCysLysPheCysAsnPheThrTyrMetGlyAsnSerSerThrGluLeuGluGlnHisPheLeuGlnThrHisProAsnLysIleLysAlaSerLeuProSerSerGluValAlaLysProSerGluLysAsnSerAsnLysSerIleProAlaLeuGlnSerSerAspSerGlyAspLeuGlyLysTrpGlnAspLysIleThrValLysAlaGlyAspAspThrProValGlyTyrSerValProIleLysProLeuAspSerSerArgGlnAsnGlyThrGluAlaThrSerTyrTyrTrpCysLysPheCysSerPheSerCysGluSerSerSerSerLeuLysLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697185", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395715.8:c.913C>T" }, "RefSeq": { "hgvs": "NM_014112.5:c.913C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379065.3:p.Gln305Ter" }, "RefSeq": { "hgvs": "NP_054831.2:p.Gln305Ter" } } } } ], "type": "nucleotide" }