{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16043144", "communityStandardTitle": [ "NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360481[alleleid]", "alleleId": 360481, "preferredName": "NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373087", "RCV": [ "RCV000413934", "RCV000499667", "RCV000623331", "RCV001265465" ], "variationId": 373087 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.38852961C>T?assembly=hg19", "id": "chr21:g.38852961C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.37480659C>T?assembly=hg38", "id": "chr21:g.37480659C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518204", "rs": 1057518204 } ] }, "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 37480659, "referenceAllele": "C", "start": 37480658 } ], "hgvs": [ "NC_000021.9:g.37480659C>T", "CM000683.2:g.37480659C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 38852961, "referenceAllele": "C", "start": 38852960 } ], "hgvs": [ "NC_000021.8:g.38852961C>T", "CM000683.1:g.38852961C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000045" }, { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 37774831, "referenceAllele": "C", "start": 37774830 } ], "hgvs": [ "NC_000021.7:g.37774831C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000021" }, { "coordinates": [ { "allele": "T", "end": 118103, "referenceAllele": "C", "start": 118102 } ], "hgvs": [ "NG_009366.1:g.118103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001574" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000338785.8:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000342690.3:p.Arg117Ter", "hgvsWellDefined": "ENSP00000342690.3:p.Arg118_Glu584delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValSerSerHisValValHisLeuLeuValSerProAlaIleLeuArgTrpSerSerThrGlyCysGlnValProLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747770" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000398960.7:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000381932.2:p.Arg117Ter", "hgvsWellDefined": "ENSP00000381932.2:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753800" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000426672.6:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000412269.2:p.Arg117Ter", "hgvsWellDefined": "ENSP00000412269.2:p.Arg117_Glu181del" }, "referenceSequence": "http://reg.genome.network/refseq/RS755146" }, { "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "C", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000462274.2:n.243C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS756735" }, { "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000642309.1:c.235C>T" ], "proteinEffect": { "hgvs": "ENSP00000495596.1:p.Arg79Ter", "hgvsWellDefined": "ENSP00000495596.1:p.Arg79_Arg400del" }, "referenceSequence": "http://reg.genome.network/refseq/RS766673" }, { "coordinates": [ { "allele": "T", "end": 38, "referenceAllele": "C", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000643355.1:n.38C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767237" }, { "coordinates": [ { "allele": "T", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000643551.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000494698.1:p.Arg108Ter", "hgvsWellDefined": "ENSP00000494698.1:p.Arg108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767342" }, { "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000643624.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000493627.1:p.Arg108Ter", "hgvsWellDefined": "ENSP00000493627.1:p.Arg109_Ser754delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767382" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000643854.1:c.235C>T" ], "proteinEffect": { "hgvs": "ENSP00000493653.1:p.Arg79Ter", "hgvsWellDefined": "ENSP00000493653.1:p.Arg79_Arg400del" }, "referenceSequence": "http://reg.genome.network/refseq/RS767509" }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000644942.1:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000494544.1:p.Arg117Ter", "hgvsWellDefined": "ENSP00000494544.1:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768086" }, { "coordinates": [ { "allele": "T", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000645424.1:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000494897.1:p.Arg117Ter", "hgvsWellDefined": "ENSP00000494897.1:p.Arg118_Leu525delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlyAlaAlaLeuAspAlaArgCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768343" }, { "coordinates": [ { "allele": "T", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000645774.1:c.370C>T" ], "proteinEffect": { "hgvs": "ENSP00000494536.1:p.Arg124Ter", "hgvsWellDefined": "ENSP00000494536.1:p.Arg124_Ser520del" }, "referenceSequence": "http://reg.genome.network/refseq/RS768539" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000646523.1:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000495632.1:p.Arg117Ter", "hgvsWellDefined": "ENSP00000495632.1:p.Arg117_Ser605del" }, "referenceSequence": "http://reg.genome.network/refseq/RS768922" }, { "coordinates": [ { "allele": "T", "end": 1792, "referenceAllele": "C", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000646548.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000495908.1:p.Arg108Ter", "hgvsWellDefined": "ENSP00000495908.1:p.Arg109_Ser754delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768933" }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000647188.2:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000494572.1:p.Arg108Ter", "hgvsWellDefined": "ENSP00000494572.1:p.Arg109_Ser754delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769280", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647188.2:c.322C>T" }, "RefSeq": { "hgvs": "NM_001347721.2:c.322C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494572.1:p.Arg108Ter" }, "RefSeq": { "hgvs": "NP_001334650.1:p.Arg108Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000647425.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000496748.1:p.Arg108Ter", "hgvsWellDefined": "ENSP00000496748.1:p.Arg109_Ser754delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769403" }, { "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000647504.1:c.235C>T" ], "proteinEffect": { "hgvs": "ENSP00000495571.1:p.Arg79Ter", "hgvsWellDefined": "ENSP00000495571.1:p.Arg80_Ser725delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769452" }, { "coordinates": [ { "allele": "T", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000338785.7:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000342690.3:p.Arg117Ter", "hgvsWellDefined": "ENSP00000342690.3:p.Arg118_Glu584delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValSerSerHisValValHisLeuLeuValSerProAlaIleLeuArgTrpSerSerThrGlyCysGlnValProLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260725" }, { "coordinates": [ { "allele": "T", "end": 1792, "referenceAllele": "C", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000339659.8:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000340373.3:p.Arg108Ter", "hgvsWellDefined": "ENSP00000340373.3:p.Arg109_Ser754delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260920" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000398956.2:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000381929.2:p.Arg117Ter", "hgvsWellDefined": "ENSP00000381929.2:p.Arg118_His529delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyAlaSerAlaIleSerCysSerSerTrpLeuValArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278486" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000398960.6:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000381932.2:p.Arg117Ter", "hgvsWellDefined": "ENSP00000381932.2:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278489" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000426672.5:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000412269.1:p.Arg117Ter", "hgvsWellDefined": "ENSP00000412269.1:p.Arg117Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289335" }, { "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "ENST00000462274.1:n.1007C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306572" }, { "@id": "http://reg.genome.network/allele/PA645439669", "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "NM_001396.3:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001387.2:p.Arg117Ter", "hgvsWellDefined": "NP_001387.2:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026782" }, { "@id": "http://reg.genome.network/allele/PA2830165386", "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "NM_101395.2:c.349C>T" ], "proteinEffect": { "hgvs": "NP_567824.1:p.Arg117Ter", "hgvsWellDefined": "NP_567824.1:p.Arg118_Glu584delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValSerSerHisValValHisLeuLeuValSerProAlaIleLeuArgTrpSerSerThrGlyCysGlnValProLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040347" }, { "@id": "http://reg.genome.network/allele/PA2830166304", "coordinates": [ { "allele": "T", "end": 1792, "referenceAllele": "C", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "NM_130436.2:c.322C>T" ], "proteinEffect": { "hgvs": "NP_569120.1:p.Arg108Ter", "hgvsWellDefined": "NP_569120.1:p.Arg109_Ser754delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040361" }, { "@id": "http://reg.genome.network/allele/PA2830166863", "coordinates": [ { "allele": "T", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "NM_130438.2:c.349C>T" ], "proteinEffect": { "hgvs": "NP_569122.1:p.Arg117Ter", "hgvsWellDefined": "NP_569122.1:p.Arg118_His529delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyAlaSerAlaIleSerCysSerSerTrpLeuValArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040362" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_005260931.3:c.262C>T" ], "proteinEffect": { "hgvs": "XP_005260988.1:p.Arg88Ter", "hgvsWellDefined": "XP_005260988.1:p.Arg89_Ser734delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062980" }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_006723976.2:c.349C>T" ], "proteinEffect": { "hgvs": "XP_006724039.1:p.Arg117Ter", "hgvsWellDefined": "XP_006724039.1:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075299" }, { "coordinates": [ { "allele": "T", "end": 821, "referenceAllele": "C", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_006723977.2:c.349C>T" ], "proteinEffect": { "hgvs": "XP_006724040.1:p.Arg117Ter", "hgvsWellDefined": "XP_006724040.1:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075300" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_006723978.2:c.349C>T" ], "proteinEffect": { "hgvs": "XP_006724041.1:p.Arg117Ter", "hgvsWellDefined": "XP_006724041.1:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075301" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_006723979.2:c.322C>T" ], "proteinEffect": { "hgvs": "XP_006724042.1:p.Arg108Ter", "hgvsWellDefined": "XP_006724042.1:p.Arg109_Ser754delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075302" }, { "coordinates": [ { "allele": "T", "end": 385, "referenceAllele": "C", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_011529482.1:c.370C>T" ], "proteinEffect": { "hgvs": "XP_011527784.1:p.Arg124Ter", "hgvsWellDefined": "XP_011527784.1:p.Arg125_Ser770delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096551" }, { "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_011529483.1:c.349C>T" ], "proteinEffect": { "hgvs": "XP_011527785.1:p.Arg117Ter", "hgvsWellDefined": "XP_011527785.1:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096552" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_011529484.1:c.343C>T" ], "proteinEffect": { "hgvs": "XP_011527786.1:p.Arg115Ter", "hgvsWellDefined": "XP_011527786.1:p.Arg116_Ser761delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096553" }, { "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_011529485.1:c.235C>T" ], "proteinEffect": { "hgvs": "XP_011527787.1:p.Arg79Ter", "hgvsWellDefined": "XP_011527787.1:p.Arg80_Ser725delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096554" }, { "coordinates": [ { "allele": "A", "end": 706, "endIntronDirection": "-", "endIntronOffset": 1542, "referenceAllele": "G", "start": 706, "startIntronDirection": "-", "startIntronOffset": 1543 } ], "hgvs": [ "XR_937703.1:n.707-1543G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132505" }, { "coordinates": [ { "allele": "A", "end": 617, "endIntronDirection": "-", "endIntronOffset": 1542, "referenceAllele": "G", "start": 617, "startIntronDirection": "-", "startIntronOffset": 1543 } ], "hgvs": [ "XR_937704.1:n.618-1543G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132506" }, { "@id": "http://reg.genome.network/allele/PA2827404494", "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "NM_001347721.1:c.322C>T" ], "proteinEffect": { "hgvs": "NP_001334650.1:p.Arg108Ter", "hgvsWellDefined": "NP_001334650.1:p.Arg109_Ser754delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517817" }, { "@id": "http://reg.genome.network/allele/PA2827405097", "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "NM_001347722.1:c.322C>T" ], "proteinEffect": { "hgvs": "NP_001334651.1:p.Arg108Ter", "hgvsWellDefined": "NP_001334651.1:p.Arg109_Ser754delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517818" }, { "@id": "http://reg.genome.network/allele/PA916029225", "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "NM_001347723.1:c.235C>T" ], "proteinEffect": { "hgvs": "NP_001334652.1:p.Arg79Ter", "hgvsWellDefined": "NP_001334652.1:p.Arg80_Ser725delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517819" }, { "@id": "http://reg.genome.network/allele/PA645439669", "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "NM_001396.4:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001387.2:p.Arg117Ter", "hgvsWellDefined": "NP_001387.2:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524870" }, { "coordinates": [ { "allele": "T", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_006723976.3:c.349C>T" ], "proteinEffect": { "hgvs": "XP_006724039.1:p.Arg117Ter", "hgvsWellDefined": "XP_006724039.1:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540861" }, { "coordinates": [ { "allele": "T", "end": 821, "referenceAllele": "C", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_006723977.3:c.349C>T" ], "proteinEffect": { "hgvs": "XP_006724040.1:p.Arg117Ter", "hgvsWellDefined": "XP_006724040.1:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540862" }, { "coordinates": [ { "allele": "T", "end": 1550, "referenceAllele": "C", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_006723978.3:c.349C>T" ], "proteinEffect": { "hgvs": "XP_006724041.1:p.Arg117Ter", "hgvsWellDefined": "XP_006724041.1:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540863" }, { "coordinates": [ { "allele": "T", "end": 3364, "referenceAllele": "C", "start": 3363 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_011529483.2:c.349C>T" ], "proteinEffect": { "hgvs": "XP_011527785.1:p.Arg117Ter", "hgvsWellDefined": "XP_011527785.1:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549520" }, { "coordinates": [ { "allele": "T", "end": 455, "referenceAllele": "C", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_017028284.1:c.322C>T" ], "proteinEffect": { "hgvs": "XP_016883773.1:p.Arg108Ter", "hgvsWellDefined": "XP_016883773.1:p.Arg109_Ser754delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578066" }, { "coordinates": [ { "allele": "T", "end": 696, "referenceAllele": "C", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_017028286.2:c.262C>T" ], "proteinEffect": { "hgvs": "XP_016883775.1:p.Arg88Ter", "hgvsWellDefined": "XP_016883775.1:p.Arg89_Ser734delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578067" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "XM_024452057.1:c.235C>T" ], "proteinEffect": { "hgvs": "XP_024307825.1:p.Arg79Ter", "hgvsWellDefined": "XP_024307825.1:p.Arg80_Ser725delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585561" }, { "coordinates": [ { "allele": "A", "end": 138, "endIntronDirection": "-", "endIntronOffset": 1542, "referenceAllele": "G", "start": 138, "startIntronDirection": "-", "startIntronOffset": 1543 } ], "hgvs": [ "XR_001755034.1:n.139-1543G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600946" }, { "@id": "http://reg.genome.network/allele/PA2827404494", "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "NM_001347721.2:c.322C>T" ], "proteinEffect": { "hgvs": "NP_001334650.1:p.Arg108Ter", "hgvsWellDefined": "NP_001334650.1:p.Arg109_Ser754delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664426", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647188.2:c.322C>T" }, "RefSeq": { "hgvs": "NM_001347721.2:c.322C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494572.1:p.Arg108Ter" }, "RefSeq": { "hgvs": "NP_001334650.1:p.Arg108Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827405097", "coordinates": [ { "allele": "T", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "NM_001347722.2:c.322C>T" ], "proteinEffect": { "hgvs": "NP_001334651.1:p.Arg108Ter", "hgvsWellDefined": "NP_001334651.1:p.Arg109_Ser754delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687483" }, { "@id": "http://reg.genome.network/allele/PA916029225", "coordinates": [ { "allele": "T", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "NM_001347723.2:c.235C>T" ], "proteinEffect": { "hgvs": "NP_001334652.1:p.Arg79Ter", "hgvsWellDefined": "NP_001334652.1:p.Arg80_Ser725delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719059" }, { "@id": "http://reg.genome.network/allele/PA645439669", "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN003091", "geneNCBI_id": 1859, "geneSymbol": "DYRK1A", "hgvs": [ "NM_001396.5:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001387.2:p.Arg117Ter", "hgvsWellDefined": "NP_001387.2:p.Arg118_Ser763delinsHisGlnGlnGlyGlnGlyAspAspSerSerHisLysLysGluArgLysValTyrAsnAspGlyTyrAspAspAspAsnTyrAspTyrIleValLysAsnGlyGluLysTrpMetAspArgTyrGluIleAspSerLeuIleGlyLysGlySerPheGlyGlnValValLysAlaTyrAspArgValGluGlnGluTrpValAlaIleLysIleIleLysAsnLysLysAlaPheLeuAsnGlnAlaGlnIleGluValArgLeuLeuGluLeuMetAsnLysHisAspThrGluMetLysTyrTyrIleValHisLeuLysArgHisPheMetPheArgAsnHisLeuCysLeuValPheGluMetLeuSerTyrAsnLeuTyrAspLeuLeuArgAsnThrAsnPheArgGlyValSerLeuAsnLeuThrArgLysPheAlaGlnGlnMetCysThrAlaLeuLeuPheLeuAlaThrProGluLeuSerIleIleHisCysAspLeuLysProGluAsnIleLeuLeuCysAsnProLysArgSerAlaIleLysIleValAspPheGlySerSerCysGlnLeuGlyGlnArgIleTyrGlnTyrIleGlnSerArgPheTyrArgSerProGluValLeuLeuGlyMetProTyrAspLeuAlaIleAspMetTrpSerLeuGlyCysIleLeuValGluMetHisThrGlyGluProLeuPheSerGlyAlaAsnGluValAspGlnMetAsnLysIleValGluValLeuGlyIleProProAlaHisIleLeuAspGlnAlaProLysAlaArgLysPhePheGluLysLeuProAspGlyThrTrpAsnLeuLysLysThrLysAspGlyLysArgGluTyrLysProProGlyThrArgLysLeuHisAsnIleLeuGlyValGluThrGlyGlyProGlyGlyArgArgAlaGlyGluSerGlyHisThrValAlaAspTyrLeuLysPheLysAspLeuIleLeuArgMetLeuAspTyrAspProLysThrArgIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727179" } ], "type": "nucleotide" }