{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA369578362", "communityStandardTitle": [ "NM_001061.7(TBXAS1):c.193G>T (p.Glu65Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016854[alleleid]", "alleleId": 1016854, "preferredName": "NM_001061.7(TBXAS1):c.193G>T (p.Glu65Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1031016", "RCV": [ "RCV001332733" ], "variationId": 1031016 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.139575393G>T?assembly=hg19", "id": "chr7:g.139575393G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.139875594G>T?assembly=hg38", "id": "chr7:g.139875594G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/775012519", "rs": 775012519 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 139875594, "referenceAllele": "G", "start": 139875593 } ], "hgvs": [ "NC_000007.14:g.139875594G>T", "CM000669.2:g.139875594G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 139575393, "referenceAllele": "G", "start": 139575392 } ], "hgvs": [ "NC_000007.13:g.139575393G>T", "CM000669.1:g.139575393G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 139221862, "referenceAllele": "G", "start": 139221861 } ], "hgvs": [ "NC_000007.12:g.139221862G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 102213, "referenceAllele": "G", "start": 102212 } ], "hgvs": [ "NG_008422.2:g.102213G>T", "LRG_579:g.102213G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001093" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "G", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000336425.10:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000338087.7:p.Glu65Ter", "hgvsWellDefined": "ENSP00000338087.7:p.Glu65_Arg533delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747583" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000411653.6:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000411326.3:p.Glu65Ter", "hgvsWellDefined": "ENSP00000411326.3:p.Glu65_Ser459delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgTyrArgCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754470" }, { "coordinates": [ { "allele": "T", "end": 282, "referenceAllele": "G", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000414041.2:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000412710.3:p.Glu65Ter", "hgvsWellDefined": "ENSP00000412710.3:p.Glu65_Leu80delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754562" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000422328.6:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000415892.3:p.Glu65Ter", "hgvsWellDefined": "ENSP00000415892.3:p.Glu65_Gly79delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754922" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "G", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000438104.6:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000388612.3:p.Glu65Ter", "hgvsWellDefined": "ENSP00000388612.3:p.Glu65_Glu150del" }, "referenceSequence": "http://reg.genome.network/refseq/RS755685" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000448866.7:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000402536.3:p.Glu65Ter", "hgvsWellDefined": "ENSP00000402536.3:p.Glu65_Arg533delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756198", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000448866.7:c.193G>T" }, "RefSeq": { "hgvs": "NM_001061.7:c.193G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000402536.3:p.Glu65Ter" }, "RefSeq": { "hgvs": "NP_001052.3:p.Glu65Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "G", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000455353.6:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000391567.3:p.Glu65Ter", "hgvsWellDefined": "ENSP00000391567.3:p.Glu65_Val151delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetProGlnSerIleMetProAsnSerArgHisHisValAlaSerArgGlyMetTrpProGlyGlyArgArgLeuAlaCysTyrLeuHisProPheArgMetAlaGluGlyIleAlaGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756506" }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "G", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000458722.6:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000411274.3:p.Glu65Ter", "hgvsWellDefined": "ENSP00000411274.3:p.Glu65_Arg579delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluLeuGlyLeuLeuIleMetGlnGluArgIleLysGlyHisMetGlyGlyGlnGlnAlaProGlnArgIleProProThrArgLeuSerLysProSerGlyIleTyrValAsnLeuHisTyrAlaThrLeuProPheCysMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756661" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "G", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000650822.1:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000498517.1:p.Glu66Ter", "hgvsWellDefined": "ENSP00000498517.1:p.Glu66_Arg534delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771332" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000652056.1:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000498271.1:p.Glu66Ter", "hgvsWellDefined": "ENSP00000498271.1:p.Glu66_Ser460delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgTyrArgCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772006" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "G", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000263552.10:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000263552.6:p.Glu66Ter", "hgvsWellDefined": "ENSP00000263552.6:p.Glu66_Arg534delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251287" }, { "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "G", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000336425.9:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000338087.5:p.Glu65Ter", "hgvsWellDefined": "ENSP00000338087.5:p.Glu65_Arg533delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260301" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000411653.5:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000411326.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000411326.1:p.Glu65_Ser459delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgTyrArgCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282250" }, { "coordinates": [ { "allele": "T", "end": 282, "referenceAllele": "G", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000414041.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000412710.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000412710.1:p.Glu65_Leu80delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283346" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000414508.6:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000392702.2:p.Glu66Ter", "hgvsWellDefined": "ENSP00000392702.2:p.Glu66_Ser460delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgTyrArgCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283557" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "G", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000416849.6:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000389414.2:p.Glu66Ter", "hgvsWellDefined": "ENSP00000389414.2:p.Glu66_Arg580delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluLeuGlyLeuLeuIleMetGlnGluArgIleLysGlyHisMetGlyGlyGlnGlnAlaProGlnArgIleProProThrArgLeuSerLysProSerGlyIleTyrValAsnLeuHisTyrAlaThrLeuProPheCysMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS284655" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000422328.5:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000415892.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000415892.1:p.Glu65_Gly79delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287221" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000425687.5:c.-9G>T" ], "proteinEffect": { "hgvs": "ENSP00000388736.1:n.-9G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS288873" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "G", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000438104.5:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000388612.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000388612.1:p.Glu65_Glu150del" }, "referenceSequence": "http://reg.genome.network/refseq/RS294768" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000448866.5:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000402536.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000402536.1:p.Glu65_Arg533delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299927" }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "G", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000455353.5:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000391567.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000391567.1:p.Glu65_Val151delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetProGlnSerIleMetProAsnSerArgHisHisValAlaSerArgGlyMetTrpProGlyGlyArgArgLeuAlaCysTyrLeuHisProPheArgMetAlaGluGlyIleAlaGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303009" }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "G", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000458722.5:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000411274.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000411274.1:p.Glu65_Arg579delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluLeuGlyLeuLeuIleMetGlnGluArgIleLysGlyHisMetGlyGlyGlnGlnAlaProGlnArgIleProProThrArgLeuSerLysProSerGlyIleTyrValAsnLeuHisTyrAlaThrLeuProPheCysMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304547" }, { "coordinates": [ { "allele": "T", "end": 207, "endIntronDirection": "-", "endIntronOffset": 35630, "referenceAllele": "G", "start": 207, "startIntronDirection": "-", "startIntronOffset": 35631 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000462275.5:n.208-35631G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306573" }, { "coordinates": [ { "allele": "T", "end": 313, "referenceAllele": "G", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000476637.5:n.313G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317640" }, { "coordinates": [ { "allele": "T", "end": 335, "referenceAllele": "G", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000492560.6:n.335G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS329915" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001061.4:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001052.2:p.Glu66Ter", "hgvsWellDefined": "NP_001052.2:p.Glu66_Arg534delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009895" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "G", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001130966.2:c.196G>T", "LRG_579t1:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001124438.1:p.Glu66Ter", "hgvsWellDefined": "NP_001124438.1:p.Glu66_Arg534delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012139" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166253.1:c.196G>T", "LRG_579t4:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001159725.1:p.Glu66Ter", "hgvsWellDefined": "NP_001159725.1:p.Glu66_Arg580delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluLeuGlyLeuLeuIleMetGlnGluArgIleLysGlyHisMetGlyGlyGlnGlnAlaProGlnArgIleProProThrArgLeuSerLysProSerGlyIleTyrValAsnLeuHisTyrAlaThrLeuProPheCysMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014841" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166254.1:c.-9G>T", "LRG_579t3:c.-9G>T" ], "proteinEffect": { "hgvs": "NP_001159726.1:n.-9G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS014842" }, { "@id": "http://reg.genome.network/allele/PA2826949660", "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001314028.1:c.107G>T" ], "proteinEffect": { "hgvs": "NP_001300957.1:p.Gly36Val", "hgvsWellDefined": "NP_001300957.1:p.Gly36Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS026524" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_030984.3:c.196G>T", "LRG_579t2:c.196G>T" ], "proteinEffect": { "hgvs": "NP_112246.2:p.Glu66Ter", "hgvsWellDefined": "NP_112246.2:p.Glu66_Ser460delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgTyrArgCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038535" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "G", "start": 430 } ], "hgvs": [ "NR_029394.1:c.-4294966865G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS048131" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "XM_011516544.1:c.196G>T" ], "proteinEffect": { "hgvs": "XP_011514846.1:p.Glu66Ter", "hgvsWellDefined": "XP_011514846.1:p.Glu66_Ile463delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgSerLysLeuAsnProGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083745" }, { "@id": "http://reg.genome.network/allele/PA2825395421", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001061.5:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001052.3:p.Glu65Ter", "hgvsWellDefined": "NP_001052.3:p.Glu65_Arg533delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511198" }, { "@id": "http://reg.genome.network/allele/PA2825746278", "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001130966.3:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001124438.2:p.Glu65Ter", "hgvsWellDefined": "NP_001124438.2:p.Glu65_Arg533delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511467" }, { "@id": "http://reg.genome.network/allele/PA2826027971", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166253.2:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001159725.2:p.Glu65Ter", "hgvsWellDefined": "NP_001159725.2:p.Glu65_Arg579delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluLeuGlyLeuLeuIleMetGlnGluArgIleLysGlyHisMetGlyGlyGlnGlnAlaProGlnArgIleProProThrArgLeuSerLysProSerGlyIleTyrValAsnLeuHisTyrAlaThrLeuProPheCysMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511675" }, { "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "G", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166254.2:c.-9G>T" ], "proteinEffect": { "hgvs": "NP_001159726.1:n.-9G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511676" }, { "@id": "http://reg.genome.network/allele/PA2826949660", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001314028.2:c.107G>T" ], "proteinEffect": { "hgvs": "NP_001300957.1:p.Gly36Val", "hgvsWellDefined": "NP_001300957.1:p.Gly36Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS512390" }, { "@id": "http://reg.genome.network/allele/PA2499253899", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001366537.1:c.107G>T" ], "proteinEffect": { "hgvs": "NP_001353466.1:p.Gly36Val", "hgvsWellDefined": "NP_001353466.1:p.Gly36Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS524685" }, { "@id": "http://reg.genome.network/allele/PA2828213113", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001366538.1:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001353467.1:p.Glu65Ter", "hgvsWellDefined": "NP_001353467.1:p.Glu65_Val151delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetProGlnSerIleMetProAsnSerArgHisHisValAlaSerArgGlyMetTrpProGlyGlyArgArgLeuAlaCysTyrLeuHisProPheArgMetAlaGluGlyIleAlaGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524686" }, { "@id": "http://reg.genome.network/allele/PA2830068426", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_030984.4:c.193G>T" ], "proteinEffect": { "hgvs": "NP_112246.3:p.Glu65Ter", "hgvsWellDefined": "NP_112246.3:p.Glu65_Ser459delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgTyrArgCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526257" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "XM_011516544.3:c.196G>T" ], "proteinEffect": { "hgvs": "XP_011514846.1:p.Glu66Ter", "hgvsWellDefined": "XP_011514846.1:p.Glu66_Ile463delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgSerLysLeuAsnProGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544207" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "XM_017012570.2:c.196G>T" ], "proteinEffect": { "hgvs": "XP_016868059.1:p.Glu66Ter", "hgvsWellDefined": "XP_016868059.1:p.Glu66_Leu451delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisValGlnArgGlyProGluSerSerLeuLeuLeuLeuHisLeuLeuThrHisCysProLeuGlyAlaProGlyHisProArgSerLeuLeuTyrPheIleThrGluTyrGlyMetCysGluAsnIleSerTyrGlnThrLeuLeuValGlnAlaTyrGluTyrSerArgSerGlnGlyArgCysAspSerProValAsnCysAsnAlaGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566142" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "XM_017012571.2:c.196G>T" ], "proteinEffect": { "hgvs": "XP_016868060.1:p.Glu66Ter", "hgvsWellDefined": "XP_016868060.1:p.Glu66_Ala418delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisValGlnArgGlyProGluSerSerLeuLeuLeuLeuHisLeuLeuThrHisCysProLeuGlyAlaProGlyHisProArgSerLeuGluMetHisLeuArgHisTrpHisAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566143" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "XM_017012572.2:c.196G>T" ], "proteinEffect": { "hgvs": "XP_016868061.1:p.Glu66Ter", "hgvsWellDefined": "XP_016868061.1:p.Glu66_Leu411delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisValGlnArgGlyProGluSerSerLeuLeuLeuLeuHisLeuLeuThrHisCysProLeuGlyAlaProGlyHisProArgSerLeuTyrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566144" }, { "@id": "http://reg.genome.network/allele/PA2825395421", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001061.7:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001052.3:p.Glu65Ter", "hgvsWellDefined": "NP_001052.3:p.Glu65_Arg533delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676121", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000448866.7:c.193G>T" }, "RefSeq": { "hgvs": "NM_001061.7:c.193G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000402536.3:p.Glu65Ter" }, "RefSeq": { "hgvs": "NP_001052.3:p.Glu65Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825746278", "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001130966.4:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001124438.2:p.Glu65Ter", "hgvsWellDefined": "NP_001124438.2:p.Glu65_Arg533delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677170" }, { "@id": "http://reg.genome.network/allele/PA2826027971", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166253.3:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001159725.2:p.Glu65Ter", "hgvsWellDefined": "NP_001159725.2:p.Glu65_Arg579delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluLeuGlyLeuLeuIleMetGlnGluArgIleLysGlyHisMetGlyGlyGlnGlnAlaProGlnArgIleProProThrArgLeuSerLysProSerGlyIleTyrValAsnLeuHisTyrAlaThrLeuProPheCysMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678475" }, { "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "G", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166254.3:c.-9G>T" ], "proteinEffect": { "hgvs": "NP_001159726.1:n.-9G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS678476" }, { "@id": "http://reg.genome.network/allele/PA2826949660", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001314028.3:c.107G>T" ], "proteinEffect": { "hgvs": "NP_001300957.1:p.Gly36Val", "hgvsWellDefined": "NP_001300957.1:p.Gly36Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS684127" }, { "@id": "http://reg.genome.network/allele/PA2499253899", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001366537.2:c.107G>T" ], "proteinEffect": { "hgvs": "NP_001353466.1:p.Gly36Val", "hgvsWellDefined": "NP_001353466.1:p.Gly36Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS691211" }, { "@id": "http://reg.genome.network/allele/PA2828213113", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001366538.2:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001353467.1:p.Glu65Ter", "hgvsWellDefined": "NP_001353467.1:p.Glu65_Val151delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetProGlnSerIleMetProAsnSerArgHisHisValAlaSerArgGlyMetTrpProGlyGlyArgArgLeuAlaCysTyrLeuHisProPheArgMetAlaGluGlyIleAlaGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691212" }, { "@id": "http://reg.genome.network/allele/PA2830068426", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_030984.5:c.193G>T" ], "proteinEffect": { "hgvs": "NP_112246.3:p.Glu65Ter", "hgvsWellDefined": "NP_112246.3:p.Glu65_Ser459delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgTyrArgCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698911" }, { "@id": "http://reg.genome.network/allele/PA2825746278", "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001130966.5:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001124438.2:p.Glu65Ter", "hgvsWellDefined": "NP_001124438.2:p.Glu65_Arg533delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712362" }, { "@id": "http://reg.genome.network/allele/PA2826027971", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166253.4:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001159725.2:p.Glu65Ter", "hgvsWellDefined": "NP_001159725.2:p.Glu65_Arg579delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluLeuGlyLeuLeuIleMetGlnGluArgIleLysGlyHisMetGlyGlyGlnGlnAlaProGlnArgIleProProThrArgLeuSerLysProSerGlyIleTyrValAsnLeuHisTyrAlaThrLeuProPheCysMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgPheThrAlaGluAlaArgGlnGlnHisArgProPheThrTyrLeuProPheGlyAlaGlyProArgSerCysLeuGlyValArgLeuGlyLeuLeuGluValLysLeuThrLeuLeuHisValLeuHisLysPheArgPheGlnAlaCysProGluThrGlnValProLeuGlnLeuGluSerLysSerAlaLeuGlyProLysAsnGlyValTyrIleLysIleValSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713185" }, { "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "G", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166254.4:c.-9G>T" ], "proteinEffect": { "hgvs": "NP_001159726.1:n.-9G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713186" }, { "@id": "http://reg.genome.network/allele/PA2826949660", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001314028.4:c.107G>T" ], "proteinEffect": { "hgvs": "NP_001300957.1:p.Gly36Val", "hgvsWellDefined": "NP_001300957.1:p.Gly36Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS717339" }, { "@id": "http://reg.genome.network/allele/PA2499253899", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001366537.3:c.107G>T" ], "proteinEffect": { "hgvs": "NP_001353466.1:p.Gly36Val", "hgvsWellDefined": "NP_001353466.1:p.Gly36Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS721028" }, { "@id": "http://reg.genome.network/allele/PA2830068426", "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_030984.6:c.193G>T" ], "proteinEffect": { "hgvs": "NP_112246.3:p.Glu65Ter", "hgvsWellDefined": "NP_112246.3:p.Glu65_Ser459delinsSerGlnMetGluLeuArgLysLeuTyrGlyProLeuCysGlyTyrTyrLeuGlyArgArgMetPheIleValIleSerGluProAspMetIleLysGlnValLeuValGluAsnPheSerAsnPheThrAsnArgMetAlaSerGlyLeuGluPheLysSerValAlaAspSerValLeuPheLeuArgAspLysArgTrpGluGluValArgGlyAlaLeuMetSerAlaPheSerProGluLysLeuAsnGluMetValProLeuIleSerGlnAlaCysAspLeuLeuLeuAlaHisLeuLysArgTyrAlaGluSerGlyAspAlaPheAspIleGlnArgCysTyrCysAsnTyrThrThrAspValValAlaSerValAlaPheGlyThrProValAspSerTrpGlnAlaProGluAspProPheValLysHisCysLysArgPhePheGluPheCysIleProArgProIleLeuValLeuLeuLeuSerPheProSerIleMetValProLeuAlaArgIleLeuProAsnLysAsnArgAspGluLeuAsnGlyPhePheAsnLysLeuIleArgAsnValIleAlaLeuArgAspGlnGlnAlaAlaGluGluArgArgArgAspPheLeuGlnMetValLeuAspAlaArgHisSerAlaSerProMetGlyValGlnAspPheAspIleValArgAspValPheSerSerThrGlyCysLysProAsnProSerArgGlnHisGlnProSerProMetAlaArgProLeuThrValAspGluIleValGlyGlnAlaPheIlePheLeuIleAlaGlyTyrGluIleIleThrAsnThrLeuSerPheAlaThrTyrLeuLeuAlaThrAsnProAspCysGlnGluLysLeuLeuArgGluValAspValPheLysGluLysHisMetAlaProGluPheCysSerLeuGluGluGlyLeuProTyrLeuAspMetValIleAlaGluThrLeuArgMetTyrProProAlaPheArgPheThrArgGluAlaAlaGlnAspCysGluValLeuGlyGlnArgIleProAlaGlyAlaValLeuGluMetAlaValGlyAlaLeuHisHisAspProGluHisTrpProSerProGluThrPheAsnProGluArgTyrArgCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728753" } ], "type": "nucleotide" }