{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379959502", "communityStandardTitle": [ "NM_001368894.2(PAX6):c.120C>A (p.Cys40Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=461056[alleleid]", "alleleId": 461056, "preferredName": "NM_001368894.2(PAX6):c.120C>A (p.Cys40Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/460456", "RCV": [ "RCV000527030" ], "variationId": 460456 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31824273G>T?assembly=hg19", "id": "chr11:g.31824273G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31802725G>T?assembly=hg38", "id": "chr11:g.31802725G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1329112134", "rs": 1329112134 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 31802725, 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"ENSP00000368424.2:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" 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"ENSP00000368427.2:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS764792" }, { "coordinates": [ { "allele": "A", "end": 129, "endIntronDirection": "-", "endIntronOffset": 7936, "referenceAllele": "C", "start": 129, "startIntronDirection": "-", "startIntronOffset": 7937 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638965.1:c.-80-7937C>A" ], "proteinEffect": { "hgvs": "ENSP00000492769.1:n.-80-7937C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS764793" }, { "coordinates": [ { "allele": "A", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639006.1:c.-428C>A" ], "proteinEffect": { "hgvs": "ENSP00000491210.1:n.-428C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS764814" }, { "coordinates": [ { "allele": "A", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": 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"ENSP00000492476.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" 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"ENSP00000490963.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765241" }, { "coordinates": [ { "allele": "A", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639920.1:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000492111.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000492111.1:p.Cys40Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765242" }, { "coordinates": [ { "allele": "A", "end": 1761, "referenceAllele": "C", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639943.1:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000491229.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000491229.1:p.Cys40Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765252" }, { "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "C", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639950.1:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000491862.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000491862.1:p.Cys40_Pro419del" }, "referenceSequence": "http://reg.genome.network/refseq/RS765255" }, { "coordinates": [ { "allele": "A", "end": 334, "referenceAllele": "C", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640125.1:c.-181C>A" ], "proteinEffect": { "hgvs": "ENSP00000492166.1:n.-181C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS765349" }, { "coordinates": [ { "allele": "A", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640172.1:n.653C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS765368" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640242.1:c.123C>A" ], "proteinEffect": { "hgvs": "ENSP00000492409.1:p.Cys41Ter", "hgvsWellDefined": "ENSP00000492409.1:p.Cys41Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765398" }, { "coordinates": [ { "allele": "A", "end": 338, "referenceAllele": "C", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640287.1:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000492822.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000492822.1:p.Cys40Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765421" }, { "coordinates": [ { "allele": "A", "end": 357, "endIntronDirection": "+", "endIntronOffset": 3677, "referenceAllele": "C", "start": 357, "startIntronDirection": "+", "startIntronOffset": 3676 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640335.1:c.10+3677C>A" ], "proteinEffect": { "hgvs": "ENSP00000492808.1:n.10+3677C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS765446" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640368.2:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000492024.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000492024.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.120C>A" }, "RefSeq": { "hgvs": "NM_001368894.2:c.120C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Cys40Ter" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Cys40Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1045, "referenceAllele": "C", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640431.1:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000491779.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000491779.1:p.Cys40Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765494" }, { "coordinates": [ { "allele": "A", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640460.1:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000492802.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000492802.1:p.Cys40Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765507" }, { "coordinates": [ { "allele": "A", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640610.1:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000491295.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000491295.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765580" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640613.1:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000492587.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000492587.1:p.Cys40Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765581" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640684.1:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000491492.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000491492.1:p.Cys40_Asp415delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnValSerAlaAlaGlyGlyGlyLeuHisAsnProGlyProArgGluValArgSerGlySerGlyProAlaAspLeuIleGlyCysValCysThrLeuGluSerPheSerHisTyrSerAspTrpLeuAspGlnSerSerArgArgGlnSerIleProSerLeuLeuSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765617" }, { "coordinates": [ { "allele": "A", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640766.1:c.-289C>A" ], "proteinEffect": { "hgvs": "ENSP00000491214.1:n.-289C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS765664" }, { "coordinates": [ { "allele": "A", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640872.1:c.-289C>A" ], "proteinEffect": { "hgvs": "ENSP00000491065.1:n.-289C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS765711" }, { "coordinates": [ { "allele": "A", "end": 239, "referenceAllele": "C", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640963.1:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000492397.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000492397.1:p.Cys40Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765751" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640975.1:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000491872.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000491872.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765758" }, { "coordinates": [ { "allele": "A", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000643871.1:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000495109.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000495109.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767517" }, { "coordinates": [ { "allele": "A", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.12:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Cys40Ter", "hgvsWellDefined": "ENSP00000241001.8:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" 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"http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000530714.5:n.386C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS355922" }, { "coordinates": [ { "allele": "A", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000533156.1:n.735C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS357969" }, { "coordinates": [ { "allele": "A", "end": 4099, "referenceAllele": "C", "start": 4098 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000533333.5:n.4099C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS358121" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000534353.5:n.278C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS358975" }, { "coordinates": [ { "allele": "A", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000534390.1:n.247C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS359009" }, { "coordinates": [ { "allele": "A", "end": 527, "referenceAllele": "C", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.5:c.120C>A" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Cys40Ter", "hgvsWellDefined": "ENSP00000480026.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS399702" }, { "@id": "http://reg.genome.network/allele/PA658678127", "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "C", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.4:c.120C>A" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Cys40Ter", "hgvsWellDefined": "NP_000271.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006341" }, { "@id": "http://reg.genome.network/allele/PA2825645962", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Cys40Ter", "hgvsWellDefined": "NP_001121084.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011650" }, { "@id": "http://reg.genome.network/allele/PA2826474966", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Cys40Ter", "hgvsWellDefined": "NP_001245391.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019896" }, { "@id": "http://reg.genome.network/allele/PA2826475303", "coordinates": [ { "allele": "A", "end": 527, "referenceAllele": "C", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Cys40Ter", "hgvsWellDefined": "NP_001245392.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019897" }, { "@id": "http://reg.genome.network/allele/PA2826475640", "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Cys40Ter", "hgvsWellDefined": "NP_001245393.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019898" }, { "@id": "http://reg.genome.network/allele/PA2826475973", "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "C", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Cys40Ter", "hgvsWellDefined": "NP_001245394.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019899" }, { "@id": "http://reg.genome.network/allele/PA2826939927", "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Cys40Ter", "hgvsWellDefined": "NP_001297087.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026395" }, { "@id": "http://reg.genome.network/allele/PA2826940264", "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310159.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001297088.1:p.Cys40Ter", "hgvsWellDefined": "NP_001297088.1:p.Cys40_Asp401delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnValSerAlaAlaGlyGlyGlyLeuHisAsnProGlyProArgGluValArgSerGlySerGlyProAlaAspLeuIleGlyCysValCysThrLeuGluSerPheSerHisTyrSerAspTrpLeuAspGlnSerSerArgArgGlnSerIleProSerLeuLeuSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026396" }, { "coordinates": [ { "allele": "A", "end": 1513, "referenceAllele": "C", "start": 1512 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.1:c.-662C>A" ], "proteinEffect": { "hgvs": "NP_001297089.1:n.-662C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS026397" }, { "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.1:c.-331C>A" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS026398" }, { "@id": "http://reg.genome.network/allele/PA2829332254", "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.5:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Cys40Ter", "hgvsWellDefined": "NP_001595.2:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026945" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252954.3:c.120C>A" ], "proteinEffect": { "hgvs": "XP_005253011.1:p.Cys40Ter", "hgvsWellDefined": "XP_005253011.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060099" }, { "coordinates": [ { "allele": "A", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252955.3:c.120C>A" ], "proteinEffect": { "hgvs": "XP_005253012.1:p.Cys40Ter", "hgvsWellDefined": "XP_005253012.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060100" }, { "coordinates": [ { "allele": "A", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252956.3:c.120C>A" ], "proteinEffect": { "hgvs": "XP_005253013.1:p.Cys40Ter", "hgvsWellDefined": "XP_005253013.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060101" }, { "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252958.3:c.-662C>A" ], "proteinEffect": { "hgvs": "XP_005253015.1:n.-662C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS060102" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_006718246.2:c.120C>A" ], "proteinEffect": { "hgvs": "XP_006718309.1:p.Cys40Ter", "hgvsWellDefined": "XP_006718309.1:p.Cys40_Gln355delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072538" }, { "coordinates": [ { "allele": "A", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520146.1:c.324C>A" ], "proteinEffect": { "hgvs": "XP_011518448.1:p.Cys108Ter", "hgvsWellDefined": "XP_011518448.1:p.Cys108_Gln504delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087315" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "C", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520147.1:c.324C>A" ], "proteinEffect": { "hgvs": "XP_011518449.1:p.Cys108Ter", "hgvsWellDefined": "XP_011518449.1:p.Cys108_Gln490delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087316" }, { "coordinates": [ { "allele": "A", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520148.1:c.324C>A" ], "proteinEffect": { "hgvs": "XP_011518450.1:p.Cys108Ter", "hgvsWellDefined": "XP_011518450.1:p.Cys108_Gln437delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087317" }, { "coordinates": [ { "allele": "A", "end": 1409, "referenceAllele": "C", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520149.1:c.120C>A" ], "proteinEffect": { "hgvs": "XP_011518451.1:p.Cys40Ter", "hgvsWellDefined": "XP_011518451.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087318" }, { "coordinates": [ { "allele": "A", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520150.1:c.120C>A" ], "proteinEffect": { "hgvs": "XP_011518452.1:p.Cys40Ter", "hgvsWellDefined": "XP_011518452.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087319" }, { "coordinates": [ { "allele": "A", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520151.1:c.324C>A" ], "proteinEffect": { "hgvs": "XP_011518453.1:p.Cys108Ter", "hgvsWellDefined": "XP_011518453.1:p.Cys108_Gln423delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087320" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520152.1:c.120C>A" ], "proteinEffect": { "hgvs": "XP_011518454.1:p.Cys40Ter", "hgvsWellDefined": "XP_011518454.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087321" }, { "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520153.1:c.-331C>A" ], "proteinEffect": { "hgvs": "XP_011518455.1:n.-331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS087322" }, { "@id": "http://reg.genome.network/allele/PA2825645962", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Cys40Ter", "hgvsWellDefined": "NP_001121084.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676915" }, { "@id": "http://reg.genome.network/allele/PA2826474966", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Cys40Ter", "hgvsWellDefined": "NP_001245391.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680853" }, { "@id": "http://reg.genome.network/allele/PA2826475973", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Cys40Ter", "hgvsWellDefined": "NP_001245394.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680854" }, { "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "C", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.2:c.-331C>A" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS684056" }, { "@id": "http://reg.genome.network/allele/PA2828292433", "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355816.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691449" }, { "@id": "http://reg.genome.network/allele/PA2828292766", "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355817.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691450" }, { "@id": "http://reg.genome.network/allele/PA2828293099", "coordinates": [ { "allele": "A", "end": 302, "referenceAllele": "C", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355818.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691451" }, { "@id": "http://reg.genome.network/allele/PA2828293432", "coordinates": [ { "allele": "A", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355819.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691452" }, { "@id": "http://reg.genome.network/allele/PA2828293765", "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355820.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691453" }, { "@id": "http://reg.genome.network/allele/PA2828294098", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355821.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691454" }, { "@id": "http://reg.genome.network/allele/PA2828294435", "coordinates": [ { "allele": "A", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355822.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691455" }, { "@id": "http://reg.genome.network/allele/PA2828294772", "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355823.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691456" }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.1:c.-289C>A" ], "proteinEffect": { "hgvs": "NP_001355828.1:n.-289C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691461" }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.1:c.-331C>A" ], "proteinEffect": { "hgvs": "NP_001355829.1:n.-331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691462" }, { "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "C", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.1:c.-289C>A" ], "proteinEffect": { "hgvs": "NP_001355830.1:n.-289C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691463" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.1:c.-620C>A" ], "proteinEffect": { "hgvs": "NP_001355831.1:n.-620C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691464" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.1:c.-331C>A" ], "proteinEffect": { "hgvs": "NP_001355832.1:n.-331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691465" }, { "coordinates": [ { "allele": "A", "end": 432, "endIntronDirection": "-", "endIntronOffset": 948, "referenceAllele": "C", "start": 432, "startIntronDirection": "-", "startIntronOffset": 949 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.1:c.-267-949C>A" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-267-949C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691466" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.1:c.-662C>A" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-662C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691467" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "C", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.1:c.-289C>A" ], "proteinEffect": { "hgvs": "NP_001355835.1:n.-289C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691468" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.1:c.-289C>A" ], "proteinEffect": { "hgvs": "NP_001355836.1:n.-289C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691469" }, { "coordinates": [ { "allele": "A", "end": 294, "referenceAllele": "C", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.1:c.-331C>A" ], "proteinEffect": { "hgvs": "NP_001355837.1:n.-331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691470" }, { "coordinates": [ { "allele": "A", "end": 294, "endIntronDirection": "-", "endIntronOffset": 948, "referenceAllele": "C", "start": 294, "startIntronDirection": "-", "startIntronOffset": 949 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.1:c.-267-949C>A" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-267-949C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691471" }, { "@id": "http://reg.genome.network/allele/PA2828298075", "coordinates": [ { "allele": "A", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.1:c.363C>A" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Cys121Ter", "hgvsWellDefined": "NP_001355839.1:p.Cys121_Gln503delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691472" }, { "@id": "http://reg.genome.network/allele/PA916047350", "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.1:c.123C>A" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Cys41Ter", "hgvsWellDefined": "NP_001355840.1:p.Cys41_Met488delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691473" }, { "@id": "http://reg.genome.network/allele/PA2828298618", "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355841.1:p.Cys40_Met487delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691474" }, { "@id": "http://reg.genome.network/allele/PA2828298934", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355842.1:p.Cys40_Met487delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691475" }, { "@id": "http://reg.genome.network/allele/PA2828299250", "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355843.1:p.Cys40_Met487delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691476" }, { "@id": "http://reg.genome.network/allele/PA2828299566", "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355844.1:p.Cys40_Met473delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691477" }, { "@id": "http://reg.genome.network/allele/PA2828299878", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355845.1:p.Cys40_Met473delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691478" }, { "@id": "http://reg.genome.network/allele/PA2828300190", "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355846.1:p.Cys40_Met473delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691479" }, { "@id": "http://reg.genome.network/allele/PA2828300493", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355847.1:p.Cys40_Gln461delinsAspIleSerArgIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691480" }, { "@id": "http://reg.genome.network/allele/PA2828300840", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355848.1:p.Cys40_Gln461delinsAspIleSerArgIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691481" }, { "@id": "http://reg.genome.network/allele/PA2828301164", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355849.1:p.Cys40_Gln447delinsAspIleSerArgIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691482" }, { "@id": "http://reg.genome.network/allele/PA2828301485", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355850.1:p.Cys40_Met420delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691483" }, { "@id": "http://reg.genome.network/allele/PA2828301730", "coordinates": [ { "allele": "A", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355851.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691484" }, { "@id": "http://reg.genome.network/allele/PA2828301996", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355852.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691485" }, { "@id": "http://reg.genome.network/allele/PA2828302262", "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355853.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691486" }, { "@id": "http://reg.genome.network/allele/PA2828302528", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355854.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691487" }, { "@id": "http://reg.genome.network/allele/PA2828302794", "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355855.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691488" }, { "@id": "http://reg.genome.network/allele/PA2828303060", "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355856.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691489" }, { "@id": "http://reg.genome.network/allele/PA2828303302", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.1:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355857.1:p.Cys40_Gln355delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691490" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.1:c.-331C>A" ], "proteinEffect": { "hgvs": "NP_001355858.1:n.-331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691491" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.1:n.542C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705223" }, { "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.1:n.589C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705224" }, { "@id": "http://reg.genome.network/allele/PA658678127", "coordinates": [ { "allele": "A", "end": 443, "referenceAllele": "C", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.5:c.120C>A" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Cys40Ter", "hgvsWellDefined": "NP_000271.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710820" }, { "@id": "http://reg.genome.network/allele/PA2825645962", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.3:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Cys40Ter", "hgvsWellDefined": "NP_001121084.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712221" }, { "@id": "http://reg.genome.network/allele/PA2826474966", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.3:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Cys40Ter", "hgvsWellDefined": "NP_001245391.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714982" }, { "@id": "http://reg.genome.network/allele/PA2826475303", "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Cys40Ter", "hgvsWellDefined": "NP_001245392.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714983" }, { "@id": "http://reg.genome.network/allele/PA2826475640", "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Cys40Ter", "hgvsWellDefined": "NP_001245393.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714984" }, { "@id": "http://reg.genome.network/allele/PA2826475973", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.3:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Cys40Ter", "hgvsWellDefined": "NP_001245394.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714985" }, { "@id": "http://reg.genome.network/allele/PA2826939927", "coordinates": [ { "allele": "A", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Cys40Ter", "hgvsWellDefined": "NP_001297087.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717309" }, { "coordinates": [ { "allele": "A", "end": 1335, "referenceAllele": "C", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.2:c.-662C>A" ], "proteinEffect": { "hgvs": "NP_001297089.1:n.-662C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS717310" }, { "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "C", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.3:c.-331C>A" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS717311" }, { "@id": "http://reg.genome.network/allele/PA2828292433", "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355816.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721095" }, { "@id": "http://reg.genome.network/allele/PA2828292766", "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355817.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721096" }, { "@id": "http://reg.genome.network/allele/PA2828293099", "coordinates": [ { "allele": "A", "end": 302, "referenceAllele": "C", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355818.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721097" }, { "@id": "http://reg.genome.network/allele/PA2828293432", "coordinates": [ { "allele": "A", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355819.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721098" }, { "@id": "http://reg.genome.network/allele/PA2828293765", "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355820.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721099" }, { "@id": "http://reg.genome.network/allele/PA2828294098", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355821.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721100" }, { "@id": "http://reg.genome.network/allele/PA2828294435", "coordinates": [ { "allele": "A", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355822.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721101" }, { "@id": "http://reg.genome.network/allele/PA2828294772", "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355823.1:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721102", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.120C>A" }, "RefSeq": { "hgvs": "NM_001368894.2:c.120C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Cys40Ter" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Cys40Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.2:c.-289C>A" ], "proteinEffect": { "hgvs": "NP_001355828.1:n.-289C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721103" }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.2:c.-331C>A" ], "proteinEffect": { "hgvs": "NP_001355829.1:n.-331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721104" }, { "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "C", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.2:c.-289C>A" ], "proteinEffect": { "hgvs": "NP_001355830.1:n.-289C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721105" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.2:c.-620C>A" ], "proteinEffect": { "hgvs": "NP_001355831.1:n.-620C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721106" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.2:c.-331C>A" ], "proteinEffect": { "hgvs": "NP_001355832.1:n.-331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721107" }, { "coordinates": [ { "allele": "A", "end": 432, "endIntronDirection": "-", "endIntronOffset": 948, "referenceAllele": "C", "start": 432, "startIntronDirection": "-", "startIntronOffset": 949 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.2:c.-267-949C>A" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-267-949C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721108" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.2:c.-662C>A" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-662C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721109" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "C", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.2:c.-289C>A" ], "proteinEffect": { "hgvs": "NP_001355835.1:n.-289C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721110" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.2:c.-289C>A" ], "proteinEffect": { "hgvs": "NP_001355836.1:n.-289C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721111" }, { "coordinates": [ { "allele": "A", "end": 294, "referenceAllele": "C", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.2:c.-331C>A" ], "proteinEffect": { "hgvs": "NP_001355837.1:n.-331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721112" }, { "coordinates": [ { "allele": "A", "end": 294, "endIntronDirection": "-", "endIntronOffset": 948, "referenceAllele": "C", "start": 294, "startIntronDirection": "-", "startIntronOffset": 949 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.2:c.-267-949C>A" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-267-949C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721113" }, { "@id": "http://reg.genome.network/allele/PA2828298075", "coordinates": [ { "allele": "A", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.2:c.363C>A" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Cys121Ter", "hgvsWellDefined": "NP_001355839.1:p.Cys121_Gln503delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721114" }, { "@id": "http://reg.genome.network/allele/PA916047350", "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.2:c.123C>A" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Cys41Ter", "hgvsWellDefined": "NP_001355840.1:p.Cys41_Met488delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721115" }, { "@id": "http://reg.genome.network/allele/PA2828298618", "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355841.1:p.Cys40_Met487delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721116" }, { "@id": "http://reg.genome.network/allele/PA2828298934", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355842.1:p.Cys40_Met487delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721117" }, { "@id": "http://reg.genome.network/allele/PA2828299250", "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355843.1:p.Cys40_Met487delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721118" }, { "@id": "http://reg.genome.network/allele/PA2828299566", "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355844.1:p.Cys40_Met473delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721119" }, { "@id": "http://reg.genome.network/allele/PA2828299878", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355845.1:p.Cys40_Met473delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721120" }, { "@id": "http://reg.genome.network/allele/PA2828300190", "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355846.1:p.Cys40_Met473delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721121" }, { "@id": "http://reg.genome.network/allele/PA2828300493", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355847.1:p.Cys40_Gln461delinsAspIleSerArgIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721122" }, { "@id": "http://reg.genome.network/allele/PA2828300840", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355848.1:p.Cys40_Gln461delinsAspIleSerArgIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721123" }, { "@id": "http://reg.genome.network/allele/PA2828301164", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355849.1:p.Cys40_Gln447delinsAspIleSerArgIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721124" }, { "@id": "http://reg.genome.network/allele/PA2828301485", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355850.1:p.Cys40_Met420delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721125" }, { "@id": "http://reg.genome.network/allele/PA2828301730", "coordinates": [ { "allele": "A", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355851.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721126" }, { "@id": "http://reg.genome.network/allele/PA2828301996", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355852.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721127" }, { "@id": "http://reg.genome.network/allele/PA2828302262", "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355853.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721128" }, { "@id": "http://reg.genome.network/allele/PA2828302528", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355854.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721129" }, { "@id": "http://reg.genome.network/allele/PA2828302794", "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355855.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721130" }, { "@id": "http://reg.genome.network/allele/PA2828303060", "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355856.1:p.Cys40_Gln369delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721131" }, { "@id": "http://reg.genome.network/allele/PA2828303302", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.2:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Cys40Ter", "hgvsWellDefined": "NP_001355857.1:p.Cys40_Gln355delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721132" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.2:c.-331C>A" ], "proteinEffect": { "hgvs": "NP_001355858.1:n.-331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721133" }, { "@id": "http://reg.genome.network/allele/PA2829332254", "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.6:c.120C>A" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Cys40Ter", "hgvsWellDefined": "NP_001595.2:p.Cys40_Gln436delinsAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727197" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.2:n.542C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731591" }, { "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.2:n.589C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731592" }, { "@id": "http://reg.genome.network/allele/PA658678127", "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.6:c.120C>A" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Cys40Ter", "hgvsWellDefined": "NP_000271.1:p.Cys40_Gln422delinsAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781557" } ], "type": "nucleotide" }