{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA117772", "communityStandardTitle": [ "NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20850[alleleid]", "alleleId": 20850, "preferredName": "NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5811", "RCV": [ "RCV000006167" ], "variationId": 5811 } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.133436865C>T?assembly=hg38", "id": "chr9:g.133436865C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908476", "rs": 121908476 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-133436865-C-T?dataset=gnomad_r3", "id": "9-133436865-C-T", "variant": "9:133436865 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-133436865-C-T?dataset=gnomad_r4", "id": "9-133436865-C-T", "variant": "9:133436865 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 133436865, "referenceAllele": "C", "start": 133436864 } ], "hgvs": [ "NC_000009.12:g.133436865C>T", "CM000671.2:g.133436865C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 135291806, "referenceAllele": "C", "start": 135291805 } ], "hgvs": [ "NC_000009.10:g.135291806C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 27527, "referenceAllele": "C", "start": 27526 } ], "hgvs": [ "NG_011934.2:g.27527C>T", "LRG_544:g.27527C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002061" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "C", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000355699.7:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000347927.2:p.Gln449Ter", "hgvsWellDefined": "ENSP00000347927.2:p.Gln449_Thr1371delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748708", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355699.7:c.1345C>T" }, "RefSeq": { "hgvs": "NM_139027.6:c.1345C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347927.2:p.Gln449Ter" }, "RefSeq": { "hgvs": "NP_620596.2:p.Gln449Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "C", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000355699.6:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000347927.2:p.Gln449Ter", "hgvsWellDefined": "ENSP00000347927.2:p.Gln449_Thr1371delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263520" }, { "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "C", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000356589.6:c.1252C>T" ], "proteinEffect": { "hgvs": "ENSP00000348997.2:p.Gln418Ter", "hgvsWellDefined": "ENSP00000348997.2:p.Gln418_Thr1340delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263811" }, { "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000371916.5:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000360984.2:p.Gln201Ter", "hgvsWellDefined": "ENSP00000360984.2:p.Gln201_Asp444delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValGlyGlyValArgAlaGlnLeuMetHisIleSerTrpTrpSerArgProGlyLeuGlyGluArgAspLeuCysAlaArgGlyArgTrpProGlyGlySerSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268820" }, { "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000371929.7:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000360997.3:p.Gln449Ter", "hgvsWellDefined": "ENSP00000360997.3:p.Gln449_Thr1427delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerSerAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268829" }, { "coordinates": [ { "allele": "T", "end": 1099, "referenceAllele": "C", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000474918.1:c.*149C>T" ], "proteinEffect": { "hgvs": "ENSP00000435305.1:n.*149C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS316316" }, { "coordinates": [ { "allele": "T", "end": 973, "endIntronDirection": "-", "endIntronOffset": 2500, "referenceAllele": "C", "start": 973, "startIntronDirection": "-", "startIntronOffset": 2501 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000485925.5:n.974-2501C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324843" }, { "coordinates": [ { "allele": "T", "end": 1784, "referenceAllele": "C", "start": 1783 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000495234.5:c.*629C>T" ], "proteinEffect": { "hgvs": "ENSP00000435274.1:n.*629C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS331974" }, { "@id": "http://reg.genome.network/allele/PA117775", "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139025.4:c.1345C>T", "LRG_544t1:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_620594.1:p.Gln449Ter", "hgvsWellDefined": "NP_620594.1:p.Gln449_Thr1427delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerSerAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040955" }, { "@id": "http://reg.genome.network/allele/PA2830271957", "coordinates": [ { "allele": "T", "end": 1696, "referenceAllele": "C", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139026.4:c.1252C>T" ], "proteinEffect": { "hgvs": "NP_620595.1:p.Gln418Ter", "hgvsWellDefined": "NP_620595.1:p.Gln418_Thr1340delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040956" }, { "@id": "http://reg.genome.network/allele/PA916071898", "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139027.4:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_620596.2:p.Gln449Ter", "hgvsWellDefined": "NP_620596.2:p.Gln449_Thr1371delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040957" }, { "coordinates": [ { "allele": "T", "end": 992, "endIntronDirection": "-", "endIntronOffset": 2500, "referenceAllele": "C", "start": 992, "startIntronDirection": "-", "startIntronOffset": 2501 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NR_024514.2:n.993-2501C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS047021" }, { "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518174.1:c.955C>T" ], "proteinEffect": { "hgvs": "XP_011516476.1:p.Gln319Ter", "hgvsWellDefined": "XP_011516476.1:p.Gln319_Thr1297delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerSerAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085350" }, { "coordinates": [ { "allele": "T", "end": 2570, "referenceAllele": "C", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518175.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_011516477.1:p.Gln449Ter", "hgvsWellDefined": "XP_011516477.1:p.Gln449_Pro1197delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerArgCysLeuTrpGlnAlaAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085351" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518176.1:c.361C>T" ], "proteinEffect": { "hgvs": "XP_011516478.1:p.Gln121Ter", "hgvsWellDefined": "XP_011516478.1:p.Gln121_Thr1099delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerSerAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085352" }, { "coordinates": [ { "allele": "T", "end": 435, "referenceAllele": "C", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518177.1:c.355C>T" ], "proteinEffect": { "hgvs": "XP_011516479.1:p.Gln119Ter", "hgvsWellDefined": "XP_011516479.1:p.Gln119_Thr1097delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerSerAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085353" }, { "coordinates": [ { "allele": "T", "end": 115, "referenceAllele": "C", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518178.1:c.10C>T" ], "proteinEffect": { "hgvs": "XP_011516480.1:p.Gln4Ter", "hgvsWellDefined": "XP_011516480.1:p.Gln4_Thr982delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerSerAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085354" }, { "coordinates": [ { "allele": "T", "end": 279, "referenceAllele": "C", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518179.1:c.131C>T" ], "proteinEffect": { "hgvs": "XP_011516481.1:p.Thr44Ile", "hgvsWellDefined": "XP_011516481.1:p.Thr44Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS085355" }, { "coordinates": [ { "allele": "T", "end": 1911, "endIntronDirection": "-", "endIntronOffset": 7997, "referenceAllele": "C", "start": 1911, "startIntronDirection": "-", "startIntronOffset": 7998 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518180.1:c.687-7998C>T" ], "proteinEffect": { "hgvs": "XP_011516482.1:n.687-7998C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS085356" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518176.3:c.361C>T" ], "proteinEffect": { "hgvs": "XP_011516478.1:p.Gln121Ter", "hgvsWellDefined": "XP_011516478.1:p.Gln121_Thr1099delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerSerAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544806" }, { "coordinates": [ { "allele": "T", "end": 115, "referenceAllele": "C", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518178.2:c.10C>T" ], "proteinEffect": { "hgvs": "XP_011516480.1:p.Gln4Ter", "hgvsWellDefined": "XP_011516480.1:p.Gln4_Thr982delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerSerAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544807" }, { "coordinates": [ { "allele": "T", "end": 2000, "referenceAllele": "C", "start": 1999 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_017014232.1:c.1333C>T" ], "proteinEffect": { "hgvs": "XP_016869721.1:p.Gln445Ter", "hgvsWellDefined": "XP_016869721.1:p.Gln445_Thr1423delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerSerAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567255" }, { "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "C", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_017014233.1:c.955C>T" ], "proteinEffect": { "hgvs": "XP_016869722.1:p.Gln319Ter", "hgvsWellDefined": "XP_016869722.1:p.Gln319_Thr1297delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerSerAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567256" }, { "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_017014234.2:c.355C>T" ], "proteinEffect": { "hgvs": "XP_016869723.1:p.Gln119Ter", "hgvsWellDefined": "XP_016869723.1:p.Gln119_Thr1097delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerSerAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567257" }, { "coordinates": [ { "allele": "T", "end": 2570, "referenceAllele": "C", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_017014235.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_016869724.1:p.Gln449Ter", "hgvsWellDefined": "XP_016869724.1:p.Gln449_Pro744delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567258" }, { "coordinates": [ { "allele": "T", "end": 2570, "referenceAllele": "C", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XR_001746171.1:n.2570C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594527" }, { "@id": "http://reg.genome.network/allele/PA2830271957", "coordinates": [ { "allele": "T", "end": 1329, "referenceAllele": "C", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139026.5:c.1252C>T" ], "proteinEffect": { "hgvs": "NP_620595.1:p.Gln418Ter", "hgvsWellDefined": "NP_620595.1:p.Gln418_Thr1340delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699826" }, { "@id": "http://reg.genome.network/allele/PA916071898", "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "C", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139027.5:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_620596.2:p.Gln449Ter", "hgvsWellDefined": "NP_620596.2:p.Gln449_Thr1371delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699827" }, { "@id": "http://reg.genome.network/allele/PA117775", "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "C", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139025.5:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_620594.1:p.Gln449Ter", "hgvsWellDefined": "NP_620594.1:p.Gln449_Thr1427delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyThrProSerLeuValProHisGluGluAlaAlaAlaProGlyArgThrThrAlaThrProAlaGlyAlaSerLeuGluTrpSerGlnAlaArgGlyLeuLeuPheSerProAlaProGlnProArgArgLeuLeuProGlyProGlnGluAsnSerValGlnSerSerAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729201" }, { "@id": "http://reg.genome.network/allele/PA2830271957", "coordinates": [ { "allele": "T", "end": 1329, "referenceAllele": "C", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139026.6:c.1252C>T" ], "proteinEffect": { "hgvs": "NP_620595.1:p.Gln418Ter", "hgvsWellDefined": "NP_620595.1:p.Gln418_Thr1340delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729202" }, { "@id": "http://reg.genome.network/allele/PA916071898", "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "C", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139027.6:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_620596.2:p.Gln449Ter", "hgvsWellDefined": "NP_620596.2:p.Gln449_Thr1371delinsCysAlaArgThrAspGlyGlnProLeuArgSerSerProGlyGlyAlaSerPheTyrHisTrpGlyAlaAlaValProHisSerGlnGlyAspAlaLeuCysArgHisMetCysArgAlaIleGlyGluSerPheIleMetLysArgGlyAspSerPheLeuAspGlyThrArgCysMetProSerGlyProArgGluAspGlyThrLeuSerLeuCysValSerGlySerCysArgThrPheGlyCysAspGlyArgMetAspSerGlnGlnValTrpAspArgCysGlnValCysGlyGlyAspAsnSerThrCysSerProArgLysGlySerPheThrAlaGlyArgAlaArgGluTyrValThrPheLeuThrValThrProAsnLeuThrSerValTyrIleAlaAsnHisArgProLeuPheThrHisLeuAlaValArgIleGlyGlyArgTyrValValAlaGlyLysMetSerIleSerProAsnThrThrTyrProSerLeuLeuGluAspGlyArgValGluTyrArgValAlaLeuThrGluAspArgLeuProArgLeuGluGluIleArgIleTrpGlyProLeuGlnGluAspAlaAspIleGlnValTyrArgArgTyrGlyGluGluTyrGlyAsnLeuThrArgProAspIleThrPheThrTyrPheGlnProLysProArgGlnAlaTrpValTrpAlaAlaValArgGlyProCysSerValSerCysGlyAlaGlyLeuArgTrpValAsnTyrSerCysLeuAspGlnAlaArgLysGluLeuValGluThrValGlnCysGlnGlySerGlnGlnProProAlaTrpProGluAlaCysValLeuGluProCysProProTyrTrpAlaValGlyAspPheGlyProCysSerAlaSerCysGlyGlyGlyLeuArgGluArgProValArgCysValGluAlaGlnGlySerLeuLeuLysThrLeuProProAlaArgCysArgAlaGlyAlaGlnGlnProAlaValAlaLeuGluThrCysAsnProGlnProCysProAlaArgTrpGluValSerGluProSerSerCysThrSerAlaGlyGlyAlaGlyLeuAlaLeuGluAsnGluThrCysValProGlyAlaAspGlyLeuGluAlaProValThrGluGlyProGlySerValAspGluLysLeuProAlaProGluProCysValGlyMetSerCysProProGlyTrpGlyHisLeuAspAlaThrSerAlaGlyGluLysAlaProSerProTrpGlySerIleArgThrGlyAlaGlnAlaAlaHisValTrpThrProAlaAlaGlySerCysSerValSerCysGlyArgGlyLeuMetGluLeuArgPheLeuCysMetAspSerAlaLeuArgValProValGlnGluGluLeuCysGlyLeuAlaSerLysProGlySerArgArgGluValCysGlnAlaValProCysProAlaArgTrpGlnTyrLysLeuAlaAlaCysSerValSerCysGlyArgGlyValValArgArgIleLeuTyrCysAlaArgAlaHisGlyGluAspAspGlyGluGluIleLeuLeuAspThrGlnCysGlnGlyLeuProArgProGluProGlnGluAlaCysSerLeuGluProCysProProArgTrpLysValMetSerLeuGlyProCysSerAlaSerCysGlyLeuGlyThrAlaArgArgSerValAlaCysValGlnLeuAspGlnGlyGlnAspValGluValAspGluAlaAlaCysAlaAlaLeuValArgProGluAlaSerValProCysLeuIleAlaAspCysThrTyrArgTrpHisValGlyThrTrpMetGluCysSerValSerCysGlyAspGlyIleGlnArgArgArgAspThrCysLeuGlyProGlnAlaGlnAlaProValProAlaAspPheCysGlnHisLeuProLysProValThrValArgGlyCysTrpAlaGlyProCysValGlyGlnGlyAlaCysGlyArgGlnHisLeuGluProThrGlyThrIleAspMetArgGlyProGlyGlnAlaAspCysAlaValAlaIleGlyArgProLeuGlyGluValValThrLeuArgValLeuGluSerSerLeuAsnCysSerAlaGlyAspMetLeuLeuLeuTrpGlyArgLeuThrTrpArgLysMetCysArgLysLeuLeuAspMetThrPheSerSerLysThrAsnThrLeuValValArgGlnArgCysGlyArgProGlyGlyGlyValLeuLeuArgTyrGlySerGlnLeuAlaProGluThrPheTyrArgGluCysAspMetGlnLeuPheGlyProTrpGlyGluIleValSerProSerLeuSerProAlaThrSerAsnAlaGlyGlyCysArgLeuPheIleAsnValAlaProHisAlaArgIleAlaIleHisAlaLeuAlaThrAsnMetGlyAlaGlyThrGluGlyAlaAsnAlaSerTyrIleLeuIleArgAspThrHisSerLeuArgThrThrAlaPheHisGlyGlnGlnValLeuTyrTrpGluSerGluSerSerGlnAlaGluMetGluPheSerGluGlyPheLeuLysAlaGlnAlaSerLeuArgGlyGlnTyrTrpThrLeuGlnSerTrpValProGluMetGlnAspProGlnSerTrpLysGlyLysGluGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355699.7:c.1345C>T" }, "RefSeq": { "hgvs": "NM_139027.6:c.1345C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347927.2:p.Gln449Ter" }, "RefSeq": { "hgvs": "NP_620596.2:p.Gln449Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 994, "endIntronDirection": "-", "endIntronOffset": 2500, "referenceAllele": "C", "start": 994, "startIntronDirection": "-", "startIntronOffset": 2501 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NR_024514.3:n.995-2501C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730190" } ], "type": "nucleotide" }