{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2891893", "communityStandardTitle": [ "NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=549471[alleleid]", "alleleId": 549471, "preferredName": "NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/558759", "RCV": [ "RCV000754959", "RCV002499193", "RCV003106018" ], "variationId": 558759 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-39226647-C-G", "id": "4-39226647-C-G", "variant": "4:39226647 C / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.39226647C>G?assembly=hg19", "id": "chr4:g.39226647C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.39225027C>G?assembly=hg38", "id": "chr4:g.39225027C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/771148519", "rs": 771148519 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-39226647-C-G?dataset=gnomad_r2_1", "id": "4-39226647-C-G", "variant": "4:39226647 C / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-39225027-C-G?dataset=gnomad_r3", "id": "4-39225027-C-G", "variant": "4:39225027 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-39225027-C-G?dataset=gnomad_r4", "id": "4-39225027-C-G", "variant": "4:39225027 C / G" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 39225027, "referenceAllele": "C", "start": 39225026 } ], "hgvs": [ "NC_000004.12:g.39225027C>G", "CM000666.2:g.39225027C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 39226647, "referenceAllele": "C", "start": 39226646 } ], "hgvs": [ "NC_000004.11:g.39226647C>G", "CM000666.1:g.39226647C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 38903042, "referenceAllele": "C", "start": 38903041 } ], "hgvs": [ "NC_000004.10:g.38903042C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "G", "end": 47624, "referenceAllele": "C", "start": 47623 } ], "hgvs": [ "NG_031813.1:g.47624C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS004976" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1652, "referenceAllele": "C", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "ENST00000399820.8:c.1623C>G" ], "proteinEffect": { "hgvs": "ENSP00000382717.3:p.Tyr541Ter", "hgvsWellDefined": "ENSP00000382717.3:p.Tyr541_Leu1342delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753878", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000399820.8:c.1623C>G" }, "RefSeq": { "hgvs": "NM_025132.4:c.1623C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382717.3:p.Tyr541Ter" }, "RefSeq": { "hgvs": "NP_079408.3:p.Tyr541Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1777, "referenceAllele": "C", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "ENST00000399820.7:c.1623C>G" ], "proteinEffect": { "hgvs": "ENSP00000382717.3:p.Tyr541Ter", "hgvsWellDefined": "ENSP00000382717.3:p.Tyr541_Leu1342delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278816" }, { "coordinates": [ { "allele": "G", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "ENST00000506869.5:c.*1204C>G" ], "proteinEffect": { "hgvs": "ENSP00000424319.1:n.*1204C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS338315" }, { "coordinates": [ { "allele": "G", "end": 40, "endIntronDirection": "-", "endIntronOffset": 3530, "referenceAllele": "C", "start": 40, "startIntronDirection": "-", "startIntronOffset": 3531 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "ENST00000511729.5:n.41-3531C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS341933" }, { "coordinates": [ { "allele": "G", "end": 621, "referenceAllele": "C", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "ENST00000512095.5:n.621C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS342207" }, { "@id": "http://reg.genome.network/allele/PA913199994", "coordinates": [ { "allele": "G", "end": 1777, "referenceAllele": "C", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "NM_025132.3:c.1623C>G" ], "proteinEffect": { "hgvs": "NP_079408.3:p.Tyr541Ter", "hgvsWellDefined": "NP_079408.3:p.Tyr541_Leu1342delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038216" }, { "coordinates": [ { "allele": "G", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XM_011513724.1:c.1623C>G" ], "proteinEffect": { "hgvs": "XP_011512026.1:p.Tyr541Ter", "hgvsWellDefined": "XP_011512026.1:p.Tyr541_Leu1346delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluValTrpGlnGlnMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080956" }, { "coordinates": [ { "allele": "G", "end": 1926, "referenceAllele": "C", "start": 1925 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XM_011513725.1:c.1557C>G" ], "proteinEffect": { "hgvs": "XP_011512027.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512027.1:p.Tyr519_Leu1324delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluValTrpGlnGlnMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080957" }, { "coordinates": [ { "allele": "G", "end": 1531, "referenceAllele": "C", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XM_011513726.1:c.1143C>G" ], "proteinEffect": { "hgvs": "XP_011512028.1:p.Tyr381Ter", "hgvsWellDefined": "XP_011512028.1:p.Tyr381_Leu1186delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluValTrpGlnGlnMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080958" }, { "coordinates": [ { "allele": "G", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XM_011513727.1:c.1143C>G" ], "proteinEffect": { "hgvs": "XP_011512029.1:p.Tyr381Ter", "hgvsWellDefined": "XP_011512029.1:p.Tyr381_Leu1186delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluValTrpGlnGlnMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080959" }, { "coordinates": [ { "allele": "G", "end": 1531, "referenceAllele": "C", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XM_011513728.1:c.1143C>G" ], "proteinEffect": { "hgvs": "XP_011512030.1:p.Tyr381Ter", "hgvsWellDefined": "XP_011512030.1:p.Tyr381_Leu1182delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080960" }, { "coordinates": [ { "allele": "G", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XM_011513729.1:c.1623C>G" ], "proteinEffect": { "hgvs": "XP_011512031.1:p.Tyr541Ter", "hgvsWellDefined": "XP_011512031.1:p.Tyr541_Trp969delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluValTrpGlnGlnMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheSerThrAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080961" }, { "coordinates": [ { "allele": "G", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XR_925155.1:n.1687C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS122113" }, { "@id": "http://reg.genome.network/allele/PA2826972591", "coordinates": [ { "allele": "G", "end": 1661, "referenceAllele": "C", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "NM_001317924.1:c.1143C>G" ], "proteinEffect": { "hgvs": "NP_001304853.1:p.Tyr381Ter", "hgvsWellDefined": "NP_001304853.1:p.Tyr381_Leu1182delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512599" }, { "coordinates": [ { "allele": "G", "end": 1642, "referenceAllele": "C", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XM_011513725.2:c.1557C>G" ], "proteinEffect": { "hgvs": "XP_011512027.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512027.1:p.Tyr519_Leu1324delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluValTrpGlnGlnMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543014" }, { "coordinates": [ { "allele": "G", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XM_011513726.3:c.1143C>G" ], "proteinEffect": { "hgvs": "XP_011512028.1:p.Tyr381Ter", "hgvsWellDefined": "XP_011512028.1:p.Tyr381_Leu1186delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluValTrpGlnGlnMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543015" }, { "coordinates": [ { "allele": "G", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XM_017008501.1:c.1143C>G" ], "proteinEffect": { "hgvs": "XP_016863990.1:p.Tyr381Ter", "hgvsWellDefined": "XP_016863990.1:p.Tyr381_Leu1182delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563000" }, { "coordinates": [ { "allele": "G", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XR_001741306.1:n.1687C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591321" }, { "coordinates": [ { "allele": "G", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XR_001741307.1:n.1687C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591322" }, { "coordinates": [ { "allele": "G", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XR_001741308.1:n.1687C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591323" }, { "coordinates": [ { "allele": "G", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XR_001741309.1:n.1687C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591324" }, { "coordinates": [ { "allele": "G", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XR_001741310.1:n.1687C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591325" }, { "coordinates": [ { "allele": "G", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XR_001741311.2:n.1536C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591326" }, { "coordinates": [ { "allele": "G", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "XR_001741312.1:n.1687C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591327" }, { "@id": "http://reg.genome.network/allele/PA913199994", "coordinates": [ { "allele": "G", "end": 1652, "referenceAllele": "C", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "NM_025132.4:c.1623C>G" ], "proteinEffect": { "hgvs": "NP_079408.3:p.Tyr541Ter", "hgvsWellDefined": "NP_079408.3:p.Tyr541_Leu1342delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670902", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000399820.8:c.1623C>G" }, "RefSeq": { "hgvs": "NM_025132.4:c.1623C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382717.3:p.Tyr541Ter" }, "RefSeq": { "hgvs": "NP_079408.3:p.Tyr541Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826972591", "coordinates": [ { "allele": "G", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN018340", "geneNCBI_id": 57728, "geneSymbol": "WDR19", "hgvs": [ "NM_001317924.2:c.1143C>G" ], "proteinEffect": { "hgvs": "NP_001304853.1:p.Tyr381Ter", "hgvsWellDefined": "NP_001304853.1:p.Tyr381_Leu1182delinsCysProValAsnAspAlaThrTyrGluIleProAspPheSerProThrIleLysGlyValLeuTrpGluAsnTrpProMetAspLysGlyValPheIleAlaTyrAspAspAspLysValTyrThrTyrValPheHisLysAspThrIleGlnGlyAlaLysValIleLeuAlaGlySerThrLysValProPheAlaHisLysProLeuLeuLeuTyrAsnGlyGluLeuThrCysGlnThrGlnSerGlyLysValAsnAsnIleTyrLeuSerThrHisGlyPheLeuSerAsnLeuLysAspThrGlyProAspGluLeuArgProMetLeuAlaGlnAsnLeuMetLeuLysArgPheSerAspAlaTrpGluMetCysArgIleLeuAsnAspGluAlaAlaTrpAsnGluLeuAlaArgAlaCysLeuHisHisMetGluValGluPheAlaIleArgValTyrArgArgIleGlyAsnValGlyIleValMetSerLeuGluGlnIleLysGlyIleGluAspTyrAsnLeuLeuAlaGlyHisLeuAlaMetPheThrAsnAspTyrAsnLeuAlaGlnAspLeuTyrLeuAlaSerSerCysProIleAlaAlaLeuGluMetArgArgAspLeuGlnHisTrpAspSerAlaLeuGlnLeuAlaLysHisLeuAlaProAspGlnIleProPheIleSerLysGluTyrAlaIleGlnLeuGluPheAlaGlyAspTyrValAsnAlaLeuAlaHisTyrGluLysGlyIleThrGlyAspAsnLysGluHisAspGluAlaCysLeuAlaGlyValAlaGlnMetSerIleArgMetGlyAspIleArgArgGlyValAsnGlnAlaLeuLysHisProSerArgValLeuLysArgAspCysGlyAlaIleLeuGluAsnMetLysGlnPheSerGluAlaAlaGlnLeuTyrGluLysGlyLeuTyrTyrAspLysAlaAlaSerValTyrIleArgSerLysAsnTrpAlaLysValGlyAspLeuLeuProHisValSerSerProLysIleHisLeuGlnTyrAlaLysAlaLysGluAlaAspGlyArgTyrLysGluAlaValValAlaTyrGluAsnAlaLysGlnTrpGlnSerValIleArgIleTyrLeuAspHisLeuAsnAsnProGluLysAlaValAsnIleValArgGluThrGlnSerLeuAspGlyAlaLysMetValAlaArgPhePheLeuGlnLeuGlyAspTyrGlySerAlaIleGlnPheLeuValMetSerLysCysAsnAsnGluAlaPheThrLeuAlaGlnGlnHisAsnLysMetGluIleTyrAlaAspIleIleGlySerGluAspThrThrAsnGluAspTyrGlnSerIleAlaLeuTyrPheGluGlyGluLysArgTyrLeuGlnAlaGlyLysPhePheLeuLeuCysGlyGlnTyrSerArgAlaLeuLysHisPheLeuLysCysProSerSerGluAspAsnValAlaIleGluMetAlaIleGluThrValGlyGlnAlaLysAspGluLeuLeuThrAsnGlnLeuIleAspHisLeuLeuGlyGluAsnAspGlyMetProLysAspAlaLysTyrLeuPheArgLeuTyrMetAlaLeuLysGlnTyrArgGluAlaAlaGlnThrAlaIleIleIleAlaArgGluGluGlnSerAlaGlyAsnTyrArgAsnAlaHisAspValLeuPheSerMetTyrAlaGluLeuLysSerGlnLysIleLysIleProSerGluMetAlaThrAsnLeuMetIleLeuHisSerTyrIleLeuValLysIleHisValLysAsnGlyAspHisMetLysGlyAlaArgMetLeuIleArgValAlaAsnAsnIleSerLysPheProSerHisIleValProIleLeuThrSerThrValIleGluCysHisArgAlaGlyLeuLysAsnSerAlaPheSerPheAlaAlaMetLeuMetArgProGluTyrArgSerLysIleAspAlaLysTyrLysLysLysIleGluGlyMetValArgArgProAspIleSerGluIleGluGluAlaThrThrProCysProPheCysLysPheLeuLeuProGluCysGluLeuLeuCysProGlyCysLysAsnSerIleProTyrCysIleAlaThrGlyArgHisMetLeuLysAspAspTrpThrValCysProHisCysAspPheProAlaLeuTyrSerGluLeuLysIleMetLeuAsnThrGluSerThrCysProMetCysSerGluArgLeuAsnAlaAlaGlnLeuLysLysIleSerAspCysThrGlnTyrLeuArgThrGluGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684355" } ], "type": "nucleotide" }