{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA273557", "communityStandardTitle": [ "NM_000503.6(EYA1):c.428G>A (p.Trp143Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=174401[alleleid]", "alleleId": 174401, "preferredName": "NM_000503.6(EYA1):c.428G>A (p.Trp143Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178857", "RCV": [ "RCV000155629" ], "variationId": 178857 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.72229915C>T?assembly=hg19", "id": "chr8:g.72229915C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.71317680C>T?assembly=hg38", "id": "chr8:g.71317680C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/727504494", "rs": 727504494 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 71317680, "referenceAllele": "C", 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"referenceAllele": "G", "start": 235450 } ], "hgvs": [ "NG_011735.3:g.235451G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616149" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 905, "referenceAllele": "G", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000340726.8:c.428G>A" ], "proteinEffect": { "hgvs": "ENSP00000342626.3:p.Trp143Ter", "hgvsWellDefined": "ENSP00000342626.3:p.Trp143_Leu592delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747927", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340726.8:c.428G>A" }, "RefSeq": { "hgvs": "NM_000503.6:c.428G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342626.3:p.Trp143Ter" }, "RefSeq": { "hgvs": "NP_000494.2:p.Trp143Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 841, "referenceAllele": "G", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000388741.7:c.326G>A" ], "proteinEffect": { "hgvs": "ENSP00000373393.2:p.Trp109Ter", "hgvsWellDefined": "ENSP00000373393.2:p.Trp109_Leu558delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752747" }, { "coordinates": [ { "allele": "A", "end": 472, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 472, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000419131.6:c.419-6G>A" ], "proteinEffect": { "hgvs": "ENSP00000410176.1:n.419-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS754777" }, { "coordinates": [ { "allele": "A", "end": 490, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 490, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000465115.6:c.352-6G>A" ], "proteinEffect": { "hgvs": "ENSP00000428391.1:n.352-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756822" }, { "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "G", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000496494.6:n.891G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757833" }, { "coordinates": [ { "allele": "A", "end": 686, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 686, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000642391.1:c.*201-6G>A" ], "proteinEffect": { "hgvs": "ENSP00000496700.1:n.*201-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766716" }, { "coordinates": [ { "allele": "A", "end": 860, "referenceAllele": "G", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000643681.1:c.515G>A" ], "proteinEffect": { "hgvs": "ENSP00000495390.1:p.Trp172Ter", "hgvsWellDefined": "ENSP00000495390.1:p.Trp172_Leu621delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767406" }, { "coordinates": [ { "allele": "A", "end": 710, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 710, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000644229.1:c.506-6G>A" ], "proteinEffect": { "hgvs": "ENSP00000494568.1:n.506-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767712" }, { "coordinates": [ { "allele": "A", "end": 766, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 766, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000644712.1:c.503-6G>A" ], "proteinEffect": { "hgvs": "ENSP00000496188.1:n.503-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767959" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000645793.1:c.428G>A" ], "proteinEffect": { "hgvs": "ENSP00000496255.1:p.Trp143Ter", "hgvsWellDefined": "ENSP00000496255.1:p.Trp143_Leu592delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768549" }, { "coordinates": [ { "allele": "A", "end": 773, "referenceAllele": "G", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000647540.1:c.428G>A" ], "proteinEffect": { "hgvs": "ENSP00000494438.1:p.Trp143Ter", "hgvsWellDefined": "ENSP00000494438.1:p.Trp143_Leu592delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769473" }, { "coordinates": [ { "allele": "A", "end": 683, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 683, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000303824.11:c.416-6G>A" ], "proteinEffect": { "hgvs": "ENSP00000303221.7:n.416-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS255367" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000340726.7:c.428G>A" ], "proteinEffect": { "hgvs": "ENSP00000342626.3:p.Trp143Ter", "hgvsWellDefined": "ENSP00000342626.3:p.Trp143_Leu592delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261159" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "G", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000388740.4:c.329G>A" ], "proteinEffect": { "hgvs": "ENSP00000373392.3:p.Trp110Ter", "hgvsWellDefined": "ENSP00000373392.3:p.Trp110_Leu559delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274064" }, { "coordinates": [ { "allele": "A", "end": 841, "referenceAllele": "G", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000388741.6:c.326G>A" ], "proteinEffect": { "hgvs": "ENSP00000373393.2:p.Trp109Ter", "hgvsWellDefined": "ENSP00000373393.2:p.Trp109_Leu558delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274065" }, { "coordinates": [ { "allele": "A", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000388742.8:c.428G>A" ], "proteinEffect": { "hgvs": "ENSP00000373394.4:p.Trp143Ter", "hgvsWellDefined": "ENSP00000373394.4:p.Trp143_Leu592delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274066" }, { "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "G", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000388743.6:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000373395.2:p.Trp142Ter", "hgvsWellDefined": "ENSP00000373395.2:p.Trp142_Leu591delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274067" }, { "coordinates": [ { "allele": "A", "end": 447, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 447, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000419131.5:c.419-6G>A" ], "proteinEffect": { "hgvs": "ENSP00000410176.1:n.419-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS285740" }, { "coordinates": [ { "allele": "A", "end": 419, "referenceAllele": "G", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000422295.1:n.419G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS287206" }, { "coordinates": [ { "allele": "A", "end": 490, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 490, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000465115.5:c.352-6G>A" ], "proteinEffect": { "hgvs": "ENSP00000428391.1:n.352-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS308784" }, { "coordinates": [ { "allele": "A", "end": 923, "referenceAllele": "G", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000496494.5:n.923G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332943" }, { "@id": "http://reg.genome.network/allele/PA273558", "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_000503.5:c.428G>A" ], "proteinEffect": { "hgvs": "NP_000494.2:p.Trp143Ter", "hgvsWellDefined": "NP_000494.2:p.Trp143_Leu592delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006557" }, { "coordinates": [ { "allele": "A", "end": 1055, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 1055, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001288574.1:c.416-6G>A" ], "proteinEffect": { "hgvs": "NP_001275503.1:n.416-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS023477" }, { "coordinates": [ { "allele": "A", "end": 991, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 991, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001288575.1:c.68-6G>A" ], "proteinEffect": { "hgvs": "NP_001275504.1:n.68-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS023478" }, { "@id": "http://reg.genome.network/allele/PA273559", "coordinates": [ { "allele": "A", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172058.3:c.428G>A" ], "proteinEffect": { "hgvs": "NP_742055.1:p.Trp143Ter", "hgvsWellDefined": "NP_742055.1:p.Trp143_Leu592delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042627" }, { "coordinates": [ { "allele": "A", "end": 472, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 472, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172059.3:c.419-6G>A" ], "proteinEffect": { "hgvs": "NP_742056.1:n.419-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS042628" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "G", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172060.3:c.329G>A" ], "proteinEffect": { "hgvs": "NP_742057.1:p.Trp110Ter", "hgvsWellDefined": "NP_742057.1:p.Trp110_Leu559delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042629" }, { "coordinates": [ { "allele": "A", "end": 609, "referenceAllele": "G", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517481.1:c.500G>A" ], "proteinEffect": { "hgvs": "XP_011515783.1:p.Trp167Ter", "hgvsWellDefined": "XP_011515783.1:p.Trp167_Trp654delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084675" }, { "coordinates": [ { "allele": "A", "end": 648, "referenceAllele": "G", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517482.1:c.515G>A" ], "proteinEffect": { "hgvs": "XP_011515784.1:p.Trp172Ter", "hgvsWellDefined": "XP_011515784.1:p.Trp172_Trp659delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084676" }, { "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517483.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_011515785.1:p.Trp142Ter", "hgvsWellDefined": "XP_011515785.1:p.Trp142_Leu591delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084677" }, { "coordinates": [ { "allele": "A", "end": 472, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 472, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517484.1:c.419-6G>A" ], "proteinEffect": { "hgvs": "XP_011515786.1:n.419-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS084678" }, { "coordinates": [ { "allele": "A", "end": 804, "referenceAllele": "G", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517485.1:c.428G>A" ], "proteinEffect": { "hgvs": "XP_011515787.1:p.Trp143Ter", "hgvsWellDefined": "XP_011515787.1:p.Trp143_Trp630delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084679" }, { "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "G", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517486.1:c.428G>A" ], "proteinEffect": { "hgvs": "XP_011515788.1:p.Trp143Ter", "hgvsWellDefined": "XP_011515788.1:p.Trp143_Trp630delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084680" }, { "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "G", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517487.1:c.428G>A" ], "proteinEffect": { "hgvs": "XP_011515789.1:p.Trp143Ter", "hgvsWellDefined": "XP_011515789.1:p.Trp143_Trp630delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084681" }, { "coordinates": [ { "allele": "A", "end": 931, "referenceAllele": "G", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517488.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_011515790.1:p.Trp142Ter", "hgvsWellDefined": "XP_011515790.1:p.Trp142_Trp629delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084682" }, { "coordinates": [ { "allele": "A", "end": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517489.1:c.365G>A" ], "proteinEffect": { "hgvs": "XP_011515791.1:p.Trp122Ter", "hgvsWellDefined": "XP_011515791.1:p.Trp122_Trp609delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084683" }, { "coordinates": [ { "allele": "A", "end": 837, "referenceAllele": "G", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517490.1:c.329G>A" ], "proteinEffect": { "hgvs": "XP_011515792.1:p.Trp110Ter", "hgvsWellDefined": "XP_011515792.1:p.Trp110_Trp597delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084684" }, { "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "G", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517491.1:c.329G>A" ], "proteinEffect": { "hgvs": "XP_011515793.1:p.Trp110Ter", "hgvsWellDefined": "XP_011515793.1:p.Trp110_Trp597delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084685" }, { "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517492.1:c.77G>A" ], "proteinEffect": { "hgvs": "XP_011515794.1:p.Trp26Ter", "hgvsWellDefined": "XP_011515794.1:p.Trp26_Trp513delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084686" }, { "coordinates": [ { "allele": "A", "end": 720, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 720, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172059.4:c.506-6G>A" ], "proteinEffect": { "hgvs": "NP_742056.2:n.506-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS526725" }, { "coordinates": [ { "allele": "A", "end": 5365, "referenceAllele": "G", "start": 5364 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517483.2:c.425G>A" ], "proteinEffect": { "hgvs": "XP_011515785.1:p.Trp142Ter", "hgvsWellDefined": "XP_011515785.1:p.Trp142_Leu591delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544551" }, { "coordinates": [ { "allele": "A", "end": 817, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 817, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517484.3:c.506-6G>A" ], "proteinEffect": { "hgvs": "XP_011515786.2:n.506-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544552" }, { "coordinates": [ { "allele": "A", "end": 854, "referenceAllele": "G", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013201.1:c.515G>A" ], "proteinEffect": { "hgvs": "XP_016868690.1:p.Trp172Ter", "hgvsWellDefined": "XP_016868690.1:p.Trp172_Leu621delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566568" }, { "coordinates": [ { "allele": "A", "end": 698, "referenceAllele": "G", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013202.1:c.515G>A" ], "proteinEffect": { "hgvs": "XP_016868691.1:p.Trp172Ter", "hgvsWellDefined": "XP_016868691.1:p.Trp172_Leu621delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566569" }, { "coordinates": [ { "allele": "A", "end": 824, "referenceAllele": "G", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013203.2:c.512G>A" ], "proteinEffect": { "hgvs": "XP_016868692.1:p.Trp171Ter", "hgvsWellDefined": "XP_016868692.1:p.Trp171_Leu620delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566570" }, { "coordinates": [ { "allele": "A", "end": 815, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 815, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013204.2:c.503-6G>A" ], "proteinEffect": { "hgvs": "XP_016868693.1:n.503-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS566571" }, { "coordinates": [ { "allele": "A", "end": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013205.2:c.515G>A" ], "proteinEffect": { "hgvs": "XP_016868694.1:p.Trp172Ter", "hgvsWellDefined": "XP_016868694.1:p.Trp172_Ser603delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysValTyrGluSerSerGlyValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566572" }, { "coordinates": [ { "allele": "A", "end": 807, "referenceAllele": "G", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013206.1:c.428G>A" ], "proteinEffect": { "hgvs": "XP_016868695.1:p.Trp143Ter", "hgvsWellDefined": "XP_016868695.1:p.Trp143_Leu592delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566573" }, { "coordinates": [ { "allele": "A", "end": 826, "referenceAllele": "G", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013207.2:c.515G>A" ], "proteinEffect": { "hgvs": "XP_016868696.1:p.Trp172Ter", "hgvsWellDefined": "XP_016868696.1:p.Trp172_Leu591delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566574" }, { "coordinates": [ { "allele": "A", "end": 931, "referenceAllele": "G", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013208.2:c.425G>A" ], "proteinEffect": { "hgvs": "XP_016868697.1:p.Trp142Ter", "hgvsWellDefined": "XP_016868697.1:p.Trp142_Leu591delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566575" }, { "coordinates": [ { "allele": "A", "end": 815, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 815, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013210.2:c.503-6G>A" ], "proteinEffect": { "hgvs": "XP_016868699.1:n.503-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS566576" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "G", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013211.2:c.365G>A" ], "proteinEffect": { "hgvs": "XP_016868700.1:p.Trp122Ter", "hgvsWellDefined": "XP_016868700.1:p.Trp122_Leu571delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566577" }, { "coordinates": [ { "allele": "A", "end": 960, "referenceAllele": "G", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013212.2:c.329G>A" ], "proteinEffect": { "hgvs": "XP_016868701.1:p.Trp110Ter", "hgvsWellDefined": "XP_016868701.1:p.Trp110_Leu559delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566578" }, { "coordinates": [ { "allele": "A", "end": 5503, "referenceAllele": "G", "start": 5502 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013213.1:c.77G>A" ], "proteinEffect": { "hgvs": "XP_016868702.1:p.Trp26Ter", "hgvsWellDefined": "XP_016868702.1:p.Trp26_Leu475delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566579" }, { "@id": "http://reg.genome.network/allele/PA273558", "coordinates": [ { "allele": "A", "end": 905, "referenceAllele": "G", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_000503.6:c.428G>A" ], "proteinEffect": { "hgvs": "NP_000494.2:p.Trp143Ter", "hgvsWellDefined": "NP_000494.2:p.Trp143_Leu592delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662465", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340726.8:c.428G>A" }, "RefSeq": { "hgvs": "NM_000503.6:c.428G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342626.3:p.Trp143Ter" }, "RefSeq": { "hgvs": "NP_000494.2:p.Trp143Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 892, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 892, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001288574.2:c.416-6G>A" ], "proteinEffect": { "hgvs": "NP_001275503.1:n.416-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682451" }, { "coordinates": [ { "allele": "A", "end": 828, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 828, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001288575.2:c.68-6G>A" ], "proteinEffect": { "hgvs": "NP_001275504.1:n.68-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682452" }, { "@id": "http://reg.genome.network/allele/PA916048388", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001370333.1:c.515G>A" ], "proteinEffect": { "hgvs": "NP_001357262.1:p.Trp172Ter", "hgvsWellDefined": "NP_001357262.1:p.Trp172_Leu621delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692340" }, { "@id": "http://reg.genome.network/allele/PA2828406747", "coordinates": [ { "allele": "A", "end": 851, "referenceAllele": "G", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001370334.1:c.428G>A" ], "proteinEffect": { "hgvs": "NP_001357263.1:p.Trp143Ter", "hgvsWellDefined": "NP_001357263.1:p.Trp143_Leu592delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692341" }, { "@id": "http://reg.genome.network/allele/PA2828406996", "coordinates": [ { "allele": "A", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001370335.1:c.428G>A" ], "proteinEffect": { "hgvs": "NP_001357264.1:p.Trp143Ter", "hgvsWellDefined": "NP_001357264.1:p.Trp143_Leu592delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692342" }, { "coordinates": [ { "allele": "A", "end": 805, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 805, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001370336.1:c.503-6G>A" ], "proteinEffect": { "hgvs": "NP_001357265.1:n.503-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS692343" }, { "@id": "http://reg.genome.network/allele/PA273559", "coordinates": [ { "allele": "A", "end": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172058.4:c.428G>A" ], "proteinEffect": { "hgvs": "NP_742055.1:p.Trp143Ter", "hgvsWellDefined": "NP_742055.1:p.Trp143_Leu592delinsAlaGlyIleLysThrGluGlyGlyLeuSerGlnSerGlnSerProGlyGlnThrGlyPheLeuSerTyrGlyThrSerPheSerThrProGlnProGlyGlnAlaProTyrSerTyrGlnMetGlnGlySerSerPheThrThrSerSerGlyIleTyrThrGlyAsnAsnSerLeuThrAsnSerSerGlyPheAsnSerSerGlnGlnAspTyrProSerTyrProSerPheGlyGlnGlyGlnTyrAlaGlnTyrTyrAsnSerSerProTyrProAlaHisTyrMetThrSerSerAsnThrSerProThrThrProSerThrAsnAlaThrTyrGlnLeuGlnGluProProSerGlyIleThrSerGlnAlaValThrAspProThrAlaGluTyrSerThrIleHisSerProSerThrProIleLysAspSerAspSerAspArgLeuArgArgGlySerAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700463" }, { "coordinates": [ { "allele": "A", "end": 767, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "G", "start": 767, "startIntronDirection": "-", "startIntronOffset": 6 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172059.5:c.506-6G>A" ], "proteinEffect": { "hgvs": "NP_742056.2:n.506-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS700464" } ], "type": "nucleotide" }