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"proteinEffect": { "hgvs": "NP_001257454.1:p.Trp93Ter", "hgvsWellDefined": "NP_001257454.1:p.Trp93_Leu297delinsPheLysAsnArgArgAlaLysCysArgGlnGlnGlnGlnGlnGlnGlnAsnGlyGlyGlnAsnLysValArgProAlaLysLysLysThrSerProAlaArgGluValSerSerGluSerGlyThrSerGlyGlnPheThrProProSerSerThrSerValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020347" }, { "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "G", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN008522", "geneNCBI_id": 5015, "geneSymbol": "OTX2", "hgvs": [ "NM_021728.3:c.279G>A" ], "proteinEffect": { "hgvs": "NP_068374.1:p.Trp93Ter", "hgvsWellDefined": "NP_068374.1:p.Trp93_Leu297delinsPheLysAsnArgArgAlaLysCysArgGlnGlnGlnGlnGlnGlnGlnAsnGlyGlyGlnAsnLysValArgProAlaLysLysLysThrSerProAlaArgGluValSerSerGluSerGlyThrSerGlyGlnPheThrProProSerSerThrSerValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037015" }, { "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN008522", "geneNCBI_id": 5015, "geneSymbol": "OTX2", "hgvs": [ "NM_172337.2:c.255G>A" ], "proteinEffect": { "hgvs": "NP_758840.1:p.Trp85Ter", "hgvsWellDefined": "NP_758840.1:p.Trp85_Leu289delinsPheLysAsnArgArgAlaLysCysArgGlnGlnGlnGlnGlnGlnGlnAsnGlyGlyGlnAsnLysValArgProAlaLysLysLysThrSerProAlaArgGluValSerSerGluSerGlyThrSerGlyGlnPheThrProProSerSerThrSerValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042722" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN008522", "geneNCBI_id": 5015, "geneSymbol": "OTX2", "hgvs": [ "NR_073034.1:n.387G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS052438" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "G", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN008522", "geneNCBI_id": 5015, "geneSymbol": "OTX2", "hgvs": [ "NR_073036.1:n.310G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS052439" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008522", "geneNCBI_id": 5015, "geneSymbol": "OTX2", "hgvs": [ "NM_001270523.2:c.255G>A" ], "proteinEffect": { "hgvs": "NP_001257452.1:p.Trp85Ter", "hgvsWellDefined": "NP_001257452.1:p.Trp85_Leu289delinsPheLysAsnArgArgAlaLysCysArgGlnGlnGlnGlnGlnGlnGlnAsnGlyGlyGlnAsnLysValArgProAlaLysLysLysThrSerProAlaArgGluValSerSerGluSerGlyThrSerGlyGlnPheThrProProSerSerThrSerValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681043" }, { "coordinates": [ { "allele": "A", "end": 695, "referenceAllele": "G", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN008522", "geneNCBI_id": 5015, "geneSymbol": "OTX2", "hgvs": [ "NM_001270524.2:c.255G>A" ], "proteinEffect": { "hgvs": "NP_001257453.1:p.Trp85Ter", "hgvsWellDefined": "NP_001257453.1:p.Trp85_Leu289delinsPheLysAsnArgArgAlaLysCysArgGlnGlnGlnGlnGlnGlnGlnAsnGlyGlyGlnAsnLysValArgProAlaLysLysLysThrSerProAlaArgGluValSerSerGluSerGlyThrSerGlyGlnPheThrProProSerSerThrSerValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681044" }, { "coordinates": [ { "allele": "A", "end": 490, "referenceAllele": "G", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN008522", "geneNCBI_id": 5015, "geneSymbol": "OTX2", "hgvs": [ "NM_001270525.2:c.279G>A" ], "proteinEffect": { "hgvs": "NP_001257454.1:p.Trp93Ter", "hgvsWellDefined": "NP_001257454.1:p.Trp93_Leu297delinsPheLysAsnArgArgAlaLysCysArgGlnGlnGlnGlnGlnGlnGlnAsnGlyGlyGlnAsnLysValArgProAlaLysLysLysThrSerProAlaArgGluValSerSerGluSerGlyThrSerGlyGlnPheThrProProSerSerThrSerValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681045" }, { "coordinates": [ { "allele": "A", "end": 566, "referenceAllele": "G", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN008522", "geneNCBI_id": 5015, "geneSymbol": "OTX2", "hgvs": [ "NM_021728.4:c.279G>A" ], "proteinEffect": { "hgvs": "NP_068374.1:p.Trp93Ter", "hgvsWellDefined": "NP_068374.1:p.Trp93_Leu297delinsPheLysAsnArgArgAlaLysCysArgGlnGlnGlnGlnGlnGlnGlnAsnGlyGlyGlnAsnLysValArgProAlaLysLysLysThrSerProAlaArgGluValSerSerGluSerGlyThrSerGlyGlnPheThrProProSerSerThrSerValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698443", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000672264.2:c.279G>A" }, "RefSeq": { "hgvs": "NM_021728.4:c.279G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000500115.1:p.Trp93Ter" }, "RefSeq": { "hgvs": "NP_068374.1:p.Trp93Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN008522", "geneNCBI_id": 5015, "geneSymbol": "OTX2", "hgvs": [ "NM_172337.3:c.255G>A" ], "proteinEffect": { "hgvs": "NP_758840.1:p.Trp85Ter", "hgvsWellDefined": "NP_758840.1:p.Trp85_Leu289delinsPheLysAsnArgArgAlaLysCysArgGlnGlnGlnGlnGlnGlnGlnAsnGlyGlyGlnAsnLysValArgProAlaLysLysLysThrSerProAlaArgGluValSerSerGluSerGlyThrSerGlyGlnPheThrProProSerSerThrSerValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700522" }, { "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN008522", "geneNCBI_id": 5015, "geneSymbol": "OTX2", "hgvs": [ "NR_073034.2:n.390G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702647" }, { "coordinates": [ { "allele": "A", "end": 314, "referenceAllele": "G", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN008522", "geneNCBI_id": 5015, "geneSymbol": "OTX2", "hgvs": [ "NR_073036.2:n.314G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702648" } ], "type": "nucleotide" }