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"ENSP00000373393.2:p.Ser265_Leu558delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274065" }, { "coordinates": [ { "allele": "A", "end": 1117, "referenceAllele": "C", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000388742.8:c.896C>A" ], "proteinEffect": { "hgvs": "ENSP00000373394.4:p.Ser299Ter", "hgvsWellDefined": "ENSP00000373394.4:p.Ser299_Leu592delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274066" }, { "coordinates": [ { "allele": "A", "end": 1045, "referenceAllele": "C", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000388743.6:c.893C>A" ], "proteinEffect": { "hgvs": "ENSP00000373395.2:p.Ser298Ter", "hgvsWellDefined": 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"coordinates": [ { "allele": "A", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000419131.5:c.881C>A" ], "proteinEffect": { "hgvs": "ENSP00000410176.1:p.Ser294Ter", "hgvsWellDefined": "ENSP00000410176.1:p.Ser294_Leu557delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285740" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000465115.5:c.*175C>A" ], "proteinEffect": { "hgvs": "ENSP00000428391.1:n.*175C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS308784" }, { "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "C", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000493349.1:c.-188C>A" ], "proteinEffect": { "hgvs": "ENSP00000428517.1:n.-188C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS330519" }, { "coordinates": [ { "allele": "A", "end": 1391, "referenceAllele": "C", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000496494.5:n.1391C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332943" }, { "@id": "http://reg.genome.network/allele/PA658803951", "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_000503.5:c.896C>A" ], "proteinEffect": { "hgvs": "NP_000494.2:p.Ser299Ter", "hgvsWellDefined": "NP_000494.2:p.Ser299_Leu592delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006557" }, { "@id": "http://reg.genome.network/allele/PA2826707363", "coordinates": [ { "allele": "A", "end": 1518, "referenceAllele": "C", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001288574.1:c.878C>A" ], "proteinEffect": { "hgvs": "NP_001275503.1:p.Ser293Ter", "hgvsWellDefined": "NP_001275503.1:p.Ser293_Leu586delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023477" }, { "@id": "http://reg.genome.network/allele/PA2826707718", "coordinates": [ { "allele": "A", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001288575.1:c.530C>A" ], "proteinEffect": { "hgvs": "NP_001275504.1:p.Ser177Ter", "hgvsWellDefined": "NP_001275504.1:p.Ser177_Leu470delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023478" }, { "@id": "http://reg.genome.network/allele/PA645408309", "coordinates": [ { "allele": "A", "end": 1128, "referenceAllele": "C", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172058.3:c.896C>A" ], "proteinEffect": { "hgvs": "NP_742055.1:p.Ser299Ter", "hgvsWellDefined": "NP_742055.1:p.Ser299_Leu592delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042627" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "C", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172059.3:c.881C>A" ], "proteinEffect": { "hgvs": "NP_742056.1:p.Ser294Ter", "hgvsWellDefined": "NP_742056.1:p.Ser294_Leu557delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042628" }, { "coordinates": [ { "allele": "A", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172060.3:c.797C>A" ], "proteinEffect": { "hgvs": "NP_742057.1:p.Ser266Ter", "hgvsWellDefined": "NP_742057.1:p.Ser266_Leu559delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042629" }, { "coordinates": [ { "allele": "A", "end": 1077, "referenceAllele": "C", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517481.1:c.968C>A" ], "proteinEffect": { "hgvs": "XP_011515783.1:p.Ser323Ter", "hgvsWellDefined": "XP_011515783.1:p.Ser323_Trp654delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084675" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "C", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517482.1:c.983C>A" ], "proteinEffect": { "hgvs": "XP_011515784.1:p.Ser328Ter", "hgvsWellDefined": "XP_011515784.1:p.Ser328_Trp659delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS084683" }, { "coordinates": [ { "allele": "A", "end": 1305, "referenceAllele": "C", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517490.1:c.797C>A" ], "proteinEffect": { "hgvs": "XP_011515792.1:p.Ser266Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS084685" }, { "coordinates": [ { "allele": "A", "end": 1078, "referenceAllele": "C", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517492.1:c.545C>A" ], "proteinEffect": { "hgvs": "XP_011515794.1:p.Ser182Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS084686" }, { "@id": "http://reg.genome.network/allele/PA2830341169", "coordinates": [ { "allele": "A", "end": 1183, "referenceAllele": "C", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172059.4:c.968C>A" ], "proteinEffect": { "hgvs": "NP_742056.2:p.Ser323Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA916048399", "coordinates": [ { "allele": "A", "end": 1286, "referenceAllele": "C", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001370333.1:c.983C>A" ], "proteinEffect": { "hgvs": "NP_001357262.1:p.Ser328Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2828407053", "coordinates": [ { "allele": "A", "end": 1575, "referenceAllele": "C", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001370335.1:c.896C>A" ], "proteinEffect": { "hgvs": "NP_001357264.1:p.Ser299Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2828407305", "coordinates": [ { "allele": "A", "end": 1268, "referenceAllele": "C", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001370336.1:c.965C>A" ], "proteinEffect": { "hgvs": "NP_001357265.1:p.Ser322Ter", "hgvsWellDefined": "NP_001357265.1:p.Ser322_Leu585delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692343" }, { "@id": "http://reg.genome.network/allele/PA645408309", "coordinates": [ { "allele": "A", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172058.4:c.896C>A" ], "proteinEffect": { "hgvs": "NP_742055.1:p.Ser299Ter", "hgvsWellDefined": "NP_742055.1:p.Ser299_Leu592delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgAspProProThrSerValSerLeuGlyLeuArgMetGluGluMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700463" }, { "@id": "http://reg.genome.network/allele/PA2830341169", "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "C", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172059.5:c.968C>A" ], "proteinEffect": { "hgvs": "NP_742056.2:p.Ser323Ter", "hgvsWellDefined": "NP_742056.2:p.Ser323_Leu586delinsAspGlyLysSerArgGlyArgGlyArgArgAsnAsnAsnProSerProProProAspSerAspLeuGluArgValPheIleTrpAspLeuAspGluThrIleIleValPheHisSerLeuLeuThrGlySerTyrAlaAsnArgTyrGlyArgGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700464" } ], "type": "nucleotide" }