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}, "referenceSequence": "http://reg.genome.network/refseq/RS281342" }, { "coordinates": [ { "allele": "A", "end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "ENST00000409354.6:c.116G>A" ], "proteinEffect": { "hgvs": "ENSP00000386795.2:p.Trp39Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS281474" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "ENST00000409562.7:c.755G>A" ], "proteinEffect": { "hgvs": "ENSP00000387222.3:p.Trp252Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS281657" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "ENST00000409835.5:n.1002G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS281890" }, { "coordinates": [ { "allele": "A", "end": 1254, "referenceAllele": "G", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "ENST00000417238.5:c.*866G>A" ], "proteinEffect": { "hgvs": "ENSP00000411429.1:n.*866G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS284827" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "ENST00000493315.1:n.457G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS330492" }, { "@id": "http://reg.genome.network/allele/PA2573179417", "coordinates": [ { "allele": "A", "end": 402, "referenceAllele": "G", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NM_001042692.2:c.278G>A" ], "proteinEffect": { "hgvs": "NP_001036157.1:p.Trp93Ter", "hgvsWellDefined": "NP_001036157.1:p.Trp93_Val587delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgGlnIleIleAspArgArgAsnGluLeuGluLysAspIleCysSerGlyPheLeuMetThrAsnThrCysAsnAlaGluAspGlyGluLeuArgGluAspGlyArgGluGlnGluIleArgAspGlyGlySerLeuLysMetIleHisPheGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009799" }, { "@id": "http://reg.genome.network/allele/PA2829836791", "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NM_015910.5:c.755G>A" ], "proteinEffect": { "hgvs": "NP_056994.3:p.Trp252Ter", "hgvsWellDefined": "NP_056994.3:p.Trp252_Val746delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgGlnIleIleAspArgArgAsnGluLeuGluLysAspIleCysSerGlyPheLeuMetThrAsnThrCysAsnAlaGluAspGlyGluLeuArgGluAspGlyArgGluGlnGluIleArgAspGlyGlySerLeuLysMetIleHisPheGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034280" }, { "coordinates": [ { "allele": "A", "end": 402, "referenceAllele": "G", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NR_122106.1:n.402G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS055710" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_005264348.2:c.755G>A" ], "proteinEffect": { "hgvs": "XP_005264405.1:p.Trp252Ter", "hgvsWellDefined": "XP_005264405.1:p.Trp252_Ala781delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgArgArgThrGluArgArgArgGlnArgThrGlyAsnGlnArgTrpTrpPheSerGlnAsnAspSerLeuTrpSerGlyValAsnIleLysLysLysArgLysLeuProSerSerTyrLeuAsnPheSerTrpProAspThrAspLeuLysSerProValTrpIlePheAsnLysArgGlnTyrGluSerTyrLysLeuValLysSerPheGluLeuSerValCysPheGlnAsnLysValLeuLeuPheGlnLysHisAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064179" }, { "coordinates": [ { "allele": "A", "end": 1022, "referenceAllele": "G", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532881.1:c.683G>A" ], "proteinEffect": { "hgvs": "XP_011531183.1:p.Trp228Ter", "hgvsWellDefined": "XP_011531183.1:p.Trp228_Ala757delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgArgArgThrGluArgArgArgGlnArgThrGlyAsnGlnArgTrpTrpPheSerGlnAsnAspSerLeuTrpSerGlyValAsnIleLysLysLysArgLysLeuProSerSerTyrLeuAsnPheSerTrpProAspThrAspLeuLysSerProValTrpIlePheAsnLysArgGlnTyrGluSerTyrLysLeuValLysSerPheGluLeuSerValCysPheGlnAsnLysValLeuLeuPheGlnLysHisAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099907" }, { "coordinates": [ { "allele": "A", "end": 1843, "referenceAllele": "G", "start": 1842 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532882.1:c.656G>A" ], "proteinEffect": { "hgvs": "XP_011531184.1:p.Trp219Ter", "hgvsWellDefined": "XP_011531184.1:p.Trp219_Ala748delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgArgArgThrGluArgArgArgGlnArgThrGlyAsnGlnArgTrpTrpPheSerGlnAsnAspSerLeuTrpSerGlyValAsnIleLysLysLysArgLysLeuProSerSerTyrLeuAsnPheSerTrpProAspThrAspLeuLysSerProValTrpIlePheAsnLysArgGlnTyrGluSerTyrLysLeuValLysSerPheGluLeuSerValCysPheGlnAsnLysValLeuLeuPheGlnLysHisAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099908" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532883.1:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011531185.1:p.Trp252Ter", "hgvsWellDefined": "XP_011531185.1:p.Trp252_Phe738delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgGlnIleIleAspArgArgAsnGluLeuGluLysAspIleCysSerGlyPheLeuMetThrAsnThrCysAsnAlaGluAspGlyGluLeuArgGluAspGlyArgGluGlnLeuIlePheLeuGluTyrLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099909" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532884.1:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011531186.1:p.Trp252Ter", "hgvsWellDefined": "XP_011531186.1:p.Trp252_Thr652delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValAlaLysGlyThrAsnCysGlnLeuLeuSerAspAlaThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099910" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532885.1:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011531187.1:p.Trp252Ter", "hgvsWellDefined": "XP_011531187.1:p.Trp252_Leu649delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyGluGlyIleThrSerIleGluIleThrSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099911" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532886.1:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011531188.1:p.Trp252Ter", "hgvsWellDefined": "XP_011531188.1:p.Trp252_Ser649delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTrpSerLeuAlaLeuSerProArgLeuGluCysSerAspValIleAlaValHisCysHisLeuHisLeuLeuGlySerSerAspSerSerAlaSerAlaSerArgValAlaGlyThrThrGlyMetCysHisHisThrGlnLeuIlePheValValPheSerArgAspGlyIleSerProCysTrpProGlyTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099912" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532887.1:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011531189.1:p.Trp252Ter", "hgvsWellDefined": "XP_011531189.1:p.Trp252_Gln642delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyLysGluGlnLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099913" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532888.1:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011531190.1:p.Trp252Ter", "hgvsWellDefined": "XP_011531190.1:p.Trp252_Cys586delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgAsnSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099914" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532889.1:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011531191.1:p.Trp252Ter", "hgvsWellDefined": "XP_011531191.1:p.Trp252_Cys586delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgAsnSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099915" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532890.1:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011531192.1:p.Trp252Ter", "hgvsWellDefined": "XP_011531192.1:p.Trp252_Glu584delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099916" }, { "coordinates": [ { "allele": "A", "end": 1242, "referenceAllele": "G", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532891.1:c.683G>A" ], "proteinEffect": { "hgvs": "XP_011531193.1:p.Trp228Ter", "hgvsWellDefined": "XP_011531193.1:p.Trp228_Glu560delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099917" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XR_244934.1:n.1002G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116855" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XR_244935.1:n.1002G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116856" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XR_939686.1:n.1002G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS134382" }, { "@id": "http://reg.genome.network/allele/PA2573179417", "coordinates": [ { "allele": "A", "end": 402, "referenceAllele": "G", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NM_001042692.3:c.278G>A" ], "proteinEffect": { "hgvs": "NP_001036157.1:p.Trp93Ter", "hgvsWellDefined": "NP_001036157.1:p.Trp93_Val587delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgGlnIleIleAspArgArgAsnGluLeuGluLysAspIleCysSerGlyPheLeuMetThrAsnThrCysAsnAlaGluAspGlyGluLeuArgGluAspGlyArgGluGlnGluIleArgAspGlyGlySerLeuLysMetIleHisPheGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511190" }, { "@id": "http://reg.genome.network/allele/PA2827739910", "coordinates": [ { "allele": "A", "end": 1535, "referenceAllele": "G", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NM_001354044.1:c.683G>A" ], "proteinEffect": { "hgvs": "NP_001340973.1:p.Trp228Ter", "hgvsWellDefined": "NP_001340973.1:p.Trp228_Val722delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgGlnIleIleAspArgArgAsnGluLeuGluLysAspIleCysSerGlyPheLeuMetThrAsnThrCysAsnAlaGluAspGlyGluLeuArgGluAspGlyArgGluGlnGluIleArgAspGlyGlySerLeuLysMetIleHisPheGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522119" }, { "@id": "http://reg.genome.network/allele/PA2827740860", "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NM_001354045.1:c.755G>A" ], "proteinEffect": { "hgvs": "NP_001340974.1:p.Trp252Ter", "hgvsWellDefined": "NP_001340974.1:p.Trp252_Ser649delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTrpSerLeuAlaLeuSerProArgLeuGluCysSerAspValIleAlaValHisCysHisLeuHisLeuLeuGlySerSerAspSerSerAlaSerAlaSerArgValAlaGlyThrThrGlyMetCysHisHisThrGlnLeuIlePheValValPheSerArgAspGlyIleSerProCysTrpProGlyTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522120" }, { "@id": "http://reg.genome.network/allele/PA2829836791", "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NM_015910.6:c.755G>A" ], "proteinEffect": { "hgvs": "NP_056994.3:p.Trp252Ter", "hgvsWellDefined": "NP_056994.3:p.Trp252_Val746delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgGlnIleIleAspArgArgAsnGluLeuGluLysAspIleCysSerGlyPheLeuMetThrAsnThrCysAsnAlaGluAspGlyGluLeuArgGluAspGlyArgGluGlnGluIleArgAspGlyGlySerLeuLysMetIleHisPheGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525717" }, { "coordinates": [ { "allele": "A", "end": 402, "referenceAllele": "G", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NR_122106.2:n.402G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS527390" }, { "coordinates": [ { "allele": "A", "end": 1535, "referenceAllele": "G", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NR_148704.1:n.1535G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531307" }, { "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NR_148705.1:n.1283G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531308" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_005264348.4:c.755G>A" ], "proteinEffect": { "hgvs": "XP_005264405.1:p.Trp252Ter", "hgvsWellDefined": "XP_005264405.1:p.Trp252_Ala781delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgArgArgThrGluArgArgArgGlnArgThrGlyAsnGlnArgTrpTrpPheSerGlnAsnAspSerLeuTrpSerGlyValAsnIleLysLysLysArgLysLeuProSerSerTyrLeuAsnPheSerTrpProAspThrAspLeuLysSerProValTrpIlePheAsnLysArgGlnTyrGluSerTyrLysLeuValLysSerPheGluLeuSerValCysPheGlnAsnLysValLeuLeuPheGlnLysHisAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535846" }, { "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532881.3:c.683G>A" ], "proteinEffect": { "hgvs": "XP_011531183.1:p.Trp228Ter", "hgvsWellDefined": "XP_011531183.1:p.Trp228_Ala757delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgArgArgThrGluArgArgArgGlnArgThrGlyAsnGlnArgTrpTrpPheSerGlnAsnAspSerLeuTrpSerGlyValAsnIleLysLysLysArgLysLeuProSerSerTyrLeuAsnPheSerTrpProAspThrAspLeuLysSerProValTrpIlePheAsnLysArgGlnTyrGluSerTyrLysLeuValLysSerPheGluLeuSerValCysPheGlnAsnLysValLeuLeuPheGlnLysHisAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551008" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532884.3:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011531186.1:p.Trp252Ter", "hgvsWellDefined": "XP_011531186.1:p.Trp252_Thr652delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValAlaLysGlyThrAsnCysGlnLeuLeuSerAspAlaThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551009" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532887.3:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011531189.1:p.Trp252Ter", "hgvsWellDefined": "XP_011531189.1:p.Trp252_Gln642delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyLysGluGlnLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551010" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532890.3:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011531192.1:p.Trp252Ter", "hgvsWellDefined": "XP_011531192.1:p.Trp252_Glu584delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551011" }, { "coordinates": [ { "allele": "A", "end": 1242, "referenceAllele": "G", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_011532891.2:c.683G>A" ], "proteinEffect": { "hgvs": "XP_011531193.1:p.Trp228Ter", "hgvsWellDefined": "XP_011531193.1:p.Trp228_Glu560delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551012" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_017004253.2:c.755G>A" ], "proteinEffect": { "hgvs": "XP_016859742.1:p.Trp252Ter", "hgvsWellDefined": "XP_016859742.1:p.Trp252_Thr617delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetValLeuGlyHisMetCysGlyThrCysArgPheValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559799" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XM_017004254.2:c.755G>A" ], "proteinEffect": { "hgvs": "XP_016859743.1:p.Trp252Ter", "hgvsWellDefined": "XP_016859743.1:p.Trp252_Gln609delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetLysGluGlnLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559800" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XR_001738759.2:n.1217G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589216" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XR_001738760.2:n.1217G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589217" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XR_002959303.1:n.1217G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605236" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "XR_244934.3:n.1217G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606123" }, { "@id": "http://reg.genome.network/allele/PA2829836791", "coordinates": [ { "allele": "A", "end": 961, "referenceAllele": "G", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NM_015910.7:c.755G>A" ], "proteinEffect": { "hgvs": "NP_056994.3:p.Trp252Ter", "hgvsWellDefined": "NP_056994.3:p.Trp252_Val746delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgGlnIleIleAspArgArgAsnGluLeuGluLysAspIleCysSerGlyPheLeuMetThrAsnThrCysAsnAlaGluAspGlyGluLeuArgGluAspGlyArgGluGlnGluIleArgAspGlyGlySerLeuLysMetIleHisPheGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668889", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272321.12:c.755G>A" }, "RefSeq": { "hgvs": "NM_015910.7:c.755G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272321.7:p.Trp252Ter" }, "RefSeq": { "hgvs": "NP_056994.3:p.Trp252Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827739910", "coordinates": [ { "allele": "A", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NM_001354044.2:c.683G>A" ], "proteinEffect": { "hgvs": "NP_001340973.1:p.Trp228Ter", "hgvsWellDefined": "NP_001340973.1:p.Trp228_Val722delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTyrGlnArgPheGluLysAlaPheLeuLeuAlaValAspValGlyAlaArgAspLeuPheMetAspIleHisTyrLeuAlaLeuAspLysGlyGluLeuAlaLeuAlaGluValAlaArgLysArgAlaSerAspIleAspAlaGluSerIleThrSerGlyValGluLeuLeuGlyProLeuAspArgGlyAspMetLeuAsnGluAlaPheIleGlyLeuSerLeuAlaProGlnGlyGluAspSerPheProAspAsnLeuProProSerCysProThrHisArgHisIleLeuGlnGlnArgIleLeuAsnGlySerSerAsnArgGlnIleIleAspArgArgAsnGluLeuGluLysAspIleCysSerGlyPheLeuMetThrAsnThrCysAsnAlaGluAspGlyGluLeuArgGluAspGlyArgGluGlnGluIleArgAspGlyGlySerLeuLysMetIleHisPheGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690034" }, { "@id": "http://reg.genome.network/allele/PA2827740860", "coordinates": [ { "allele": "A", "end": 961, "referenceAllele": "G", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NM_001354045.2:c.755G>A" ], "proteinEffect": { "hgvs": "NP_001340974.1:p.Trp252Ter", "hgvsWellDefined": "NP_001340974.1:p.Trp252_Ser649delinsAlaProIleSerSerGluLysAspArgAlaAsnLeuLeuLeuLeuGlyTyrAlaGlnGlyArgLeuGluValLeuSerSerValArgThrGluTrpAspProLeuAspValArgPheGlyThrLysGlnProTyrGlnValPheThrValGluHisSerValSerValAspLysGluProMetAlaAspSerCysIleTyrGluCysIleArgAsnLysIleGlnCysValSerValThrArgIleProLeuLysSerLysAlaIleSerCysCysArgAsnValThrGluAspLysLeuIleLeuGlyCysGluAspSerSerLeuIleLeuTyrGluThrHisArgArgValThrLeuLeuAlaGlnThrGluLeuLeuProSerLeuIleSerCysHisProSerGlyAlaIleLeuLeuValGlySerAsnGlnGlyGluLeuGlnIlePheAspMetAlaLeuSerProIleAsnIleGlnLeuLeuAlaGluAspArgLeuProArgGluThrLeuGlnPheSerLysLeuPheAspAlaSerSerSerLeuValGlnMetGlnTrpIleAlaProGlnValValSerGlnLysGlyGluGlySerAspIleTyrAspLeuLeuPheLeuArgPheGluArgGlyProLeuGlyValLeuLeuPheLysLeuGlyValPheThrArgGlyGlnLeuGlyLeuIleAspIleIlePheGlnTyrIleHisCysAspGluIleTyrGluAlaIleAsnIleLeuSerSerMetAsnTrpAspThrLeuGlyHisGlnCysPheIleSerMetSerAlaIleValAsnHisLeuLeuArgGlnLysLeuThrProGluArgGluAlaGlnLeuGluThrSerLeuGlyThrPheTyrAlaProThrArgProLeuLeuAspSerThrIleLeuGluTyrArgAspGlnIleSerLysTyrAlaArgArgPhePheHisHisLeuLeuArgTrpSerLeuAlaLeuSerProArgLeuGluCysSerAspValIleAlaValHisCysHisLeuHisLeuLeuGlySerSerAspSerSerAlaSerAlaSerArgValAlaGlyThrThrGlyMetCysHisHisThrGlnLeuIlePheValValPheSerArgAspGlyIleSerProCysTrpProGlyTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690035" }, { "coordinates": [ { "allele": "A", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NR_148704.2:n.1213G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704853" }, { "coordinates": [ { "allele": "A", "end": 961, "referenceAllele": "G", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN028027", "geneNCBI_id": 51057, "geneSymbol": "WDPCP", "hgvs": [ "NR_148705.2:n.961G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704854" } ], "type": "nucleotide" }