{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379960116", "communityStandardTitle": [ "NM_001368894.2(PAX6):c.4C>T (p.Gln2Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1878049[alleleid]", "alleleId": 1878049, "preferredName": "NM_001368894.2(PAX6):c.4C>T (p.Gln2Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2137047", "RCV": [ "RCV003062356" ], "variationId": 2137047 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31827956G>A?assembly=hg19", "id": "chr11:g.31827956G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31806408G>A?assembly=hg38", "id": "chr11:g.31806408G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2496627345", "rs": 2496627345 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 31806408, "referenceAllele": "G", "start": 31806407 } ], "hgvs": [ "NC_000011.10:g.31806408G>A", "CM000673.2:g.31806408G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 31827956, "referenceAllele": "G", "start": 31827955 } ], "hgvs": [ "NC_000011.9:g.31827956G>A", "CM000673.1:g.31827956G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 31784532, "referenceAllele": "G", "start": 31784531 } ], "hgvs": [ "NC_000011.8:g.31784532G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 16554, "referenceAllele": "C", "start": 16553 } ], "hgvs": [ "NG_008679.1:g.16554C>T", "LRG_720:g.16554C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001164" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.13:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Gln2Ter", "hgvsWellDefined": "ENSP00000241001.8:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741099" }, { "coordinates": [ { "allele": "T", "end": 532, "referenceAllele": "C", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379107.7:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000368401.2:p.Gln2Ter", "hgvsWellDefined": 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"ENSP00000368403.2:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" 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"http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379123.10:c.-548C>T" ], "proteinEffect": { "hgvs": "ENSP00000368418.6:n.-548C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS752178" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379129.7:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000368424.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000368424.2:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752179" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379132.8:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000368427.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000368427.2:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752180" }, { "coordinates": [ { "allele": "T", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000419022.6:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000404100.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000404100.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754772" }, { "coordinates": [ { "allele": "T", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000423822.7:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000388132.3:p.Gln2Ter", "hgvsWellDefined": "ENSP00000388132.3:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS754997" }, { "coordinates": [ { "allele": "T", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000438681.6:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000404356.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000404356.2:p.Gln2_Thr320del" }, "referenceSequence": "http://reg.genome.network/refseq/RS755709" }, { "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": 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"http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000524853.6:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000431585.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000431585.2:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS758876" }, { "coordinates": [ { "allele": "T", "end": 869, "referenceAllele": "C", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000525535.2:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000436365.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000436365.2:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS758911" }, { "coordinates": [ { "allele": "T", "end": 91, "referenceAllele": "C", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000534390.2:n.91C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759396" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.7:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000480026.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761660" }, { "coordinates": [ { "allele": "T", "end": 362, "referenceAllele": "C", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638250.1:c.-274C>T" ], "proteinEffect": { "hgvs": "ENSP00000491365.1:n.-274C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764429" }, { "coordinates": [ { "allele": "T", "end": 863, "referenceAllele": "C", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638685.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492316.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492316.1:p.Gln2_Met302delinsAsnAsnGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764650" }, { "coordinates": [ { "allele": "T", "end": 4, "referenceAllele": "C", "start": 3 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638696.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492756.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492756.1:p.Gln2_Gln400delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764655" }, { "coordinates": [ { "allele": "T", "end": 4, "referenceAllele": "C", "start": 3 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638755.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492181.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492181.1:p.Gln2_Gln386delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764687" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638913.1:n.449C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764765" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638914.3:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492315.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492315.2:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764766" }, { "coordinates": [ { "allele": "T", "end": 49, "referenceAllele": "C", "start": 48 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638963.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000491948.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000491948.1:p.Gln2_Met473delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764792" }, { "coordinates": [ { "allele": "T", "end": 129, "endIntronDirection": "+", "endIntronOffset": 11401, "referenceAllele": "C", "start": 129, "startIntronDirection": "+", "startIntronOffset": 11400 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638965.1:c.-81+11401C>T" ], "proteinEffect": { "hgvs": "ENSP00000492769.1:n.-81+11401C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764793" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639034.2:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000491679.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000491679.1:p.Gln2_Asp401delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnValSerAlaAlaGlyGlyGlyLeuHisAsnProGlyProArgGluValArgSerGlySerGlyProAlaAspLeuIleGlyCysValCysThrLeuGluSerPheSerHisTyrSerAspTrpLeuAspGlnSerSerArgArgGlnSerIleProSerLeuLeuSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764827" }, { "coordinates": [ { "allele": "T", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639054.1:n.423C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764840" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639394.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492177.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492177.1:p.Gln2_Ser163delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerLeuArgThrSerAlaLeuProAlaLeuSerProMetLeuSerProLeuTyrLeuLeuProProSerLeuSerThrValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765006" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639409.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492476.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492476.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765012" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639916.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000490963.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000490963.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765241" }, { "coordinates": [ { "allele": "T", "end": 462, "referenceAllele": "C", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639920.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492111.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492111.1:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765242" }, { "coordinates": [ { "allele": "T", "end": 1645, "referenceAllele": "C", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639943.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000491229.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000491229.1:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765252" }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639950.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000491862.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000491862.1:p.Gln2_Pro419del" }, "referenceSequence": "http://reg.genome.network/refseq/RS765255" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640172.1:n.537C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS765368" }, { "coordinates": [ { "allele": "T", "end": 287, "endIntronDirection": "-", "endIntronOffset": 3573, "referenceAllele": "C", "start": 287, "startIntronDirection": "-", "startIntronOffset": 3574 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640242.1:c.14-3574C>T" ], "proteinEffect": { "hgvs": "ENSP00000492409.1:n.14-3574C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765398" }, { "coordinates": [ { "allele": "T", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640287.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492822.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492822.1:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765421" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640335.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492808.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492808.1:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765446" }, { "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640368.2:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492024.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492024.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.4C>T" }, "RefSeq": { "hgvs": "NM_001368894.2:c.4C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Gln2Ter" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Gln2Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "C", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640431.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000491779.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000491779.1:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765494" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640460.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492802.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492802.1:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765507" }, { "coordinates": [ { "allele": "T", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640610.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000491295.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000491295.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765580" }, { "coordinates": [ { "allele": "T", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640613.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492587.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492587.1:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765581" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640684.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000491492.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000491492.1:p.Gln2_Asp415delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnValSerAlaAlaGlyGlyGlyLeuHisAsnProGlyProArgGluValArgSerGlySerGlyProAlaAspLeuIleGlyCysValCysThrLeuGluSerPheSerHisTyrSerAspTrpLeuAspGlnSerSerArgArgGlnSerIleProSerLeuLeuSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765617" }, { "coordinates": [ { "allele": "T", "end": 123, "referenceAllele": "C", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640963.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000492397.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000492397.1:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765751" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640975.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000491872.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000491872.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765758" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000643871.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000495109.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000495109.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767517" }, { "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.12:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Gln2Ter", "hgvsWellDefined": "ENSP00000241001.8:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249157" }, { "coordinates": [ { "allele": "T", "end": 532, "referenceAllele": "C", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379107.6:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000368401.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000368401.2:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272346" }, { "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379109.6:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000368403.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000368403.2:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS272348" }, { "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "C", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379111.6:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000368406.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000368406.2:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272349" }, { "coordinates": [ { "allele": "T", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379115.8:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000368410.4:p.Gln2Ter", "hgvsWellDefined": "ENSP00000368410.4:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272351" }, { "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379123.9:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000368418.5:p.Gln2Ter", "hgvsWellDefined": "ENSP00000368418.5:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272355" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379129.6:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000368424.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000368424.2:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272359" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379132.7:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000368427.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000368427.2:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272360" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000419022.5:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000404100.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000404100.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285683" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000423822.6:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000388132.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000388132.2:p.Gln2_Val62del" }, "referenceSequence": "http://reg.genome.network/refseq/RS287955" }, { "coordinates": [ { "allele": "T", "end": 343, "referenceAllele": "C", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000438681.5:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000404356.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000404356.1:p.Gln2_Pro39del" }, "referenceSequence": "http://reg.genome.network/refseq/RS295055" }, { "coordinates": [ { "allele": "T", "end": 128, "referenceAllele": "C", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000455099.5:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000397384.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000397384.1:p.Gln2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS302876" }, { "coordinates": [ { "allele": "T", "end": 129, "endIntronDirection": "+", "endIntronOffset": 11401, "referenceAllele": "C", "start": 129, "startIntronDirection": "+", "startIntronOffset": 11400 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000464174.5:n.129+11401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308064" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000524853.5:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000431585.1:p.Gln2Ter", 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"PAX6", "hgvs": [ "ENST00000532175.5:n.460C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS357151" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000533333.5:n.416C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358121" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.5:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000480026.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS399702" }, { "@id": "http://reg.genome.network/allele/PA2825138535", "coordinates": [ { "allele": "T", "end": 559, "referenceAllele": "C", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.4:c.4C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Gln2Ter", "hgvsWellDefined": "NP_000271.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006341" }, { "@id": "http://reg.genome.network/allele/PA2825645922", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Gln2Ter", "hgvsWellDefined": "NP_001121084.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011650" }, { "@id": "http://reg.genome.network/allele/PA2826474926", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Gln2Ter", "hgvsWellDefined": "NP_001245391.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019896" }, { "@id": "http://reg.genome.network/allele/PA2826475263", "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Gln2Ter", "hgvsWellDefined": "NP_001245392.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019897" }, { "@id": "http://reg.genome.network/allele/PA2826475600", "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Gln2Ter", "hgvsWellDefined": "NP_001245393.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019898" }, { "@id": "http://reg.genome.network/allele/PA2826475933", "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Gln2Ter", "hgvsWellDefined": "NP_001245394.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019899" }, { "@id": "http://reg.genome.network/allele/PA2826939887", "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Gln2Ter", "hgvsWellDefined": "NP_001297087.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026395" }, { "@id": "http://reg.genome.network/allele/PA2826940224", "coordinates": [ { "allele": "T", "end": 132, "referenceAllele": "C", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310159.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001297088.1:p.Gln2Ter", "hgvsWellDefined": "NP_001297088.1:p.Gln2_Asp401delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnValSerAlaAlaGlyGlyGlyLeuHisAsnProGlyProArgGluValArgSerGlySerGlyProAlaAspLeuIleGlyCysValCysThrLeuGluSerPheSerHisTyrSerAspTrpLeuAspGlnSerSerArgArgGlnSerIleProSerLeuLeuSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026396" }, { "@id": "http://reg.genome.network/allele/PA2580254044", "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.5:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Gln2Ter", "hgvsWellDefined": "NP_001595.2:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026945" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252954.3:c.4C>T" ], "proteinEffect": { "hgvs": "XP_005253011.1:p.Gln2Ter", "hgvsWellDefined": "XP_005253011.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060099" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252955.3:c.4C>T" ], "proteinEffect": { "hgvs": "XP_005253012.1:p.Gln2Ter", "hgvsWellDefined": "XP_005253012.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060100" }, { "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252956.3:c.4C>T" ], "proteinEffect": { "hgvs": "XP_005253013.1:p.Gln2Ter", "hgvsWellDefined": "XP_005253013.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060101" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_006718246.2:c.4C>T" ], "proteinEffect": { "hgvs": "XP_006718309.1:p.Gln2Ter", "hgvsWellDefined": "XP_006718309.1:p.Gln2_Gln355delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072538" }, { "coordinates": [ { "allele": "T", "end": 1293, "referenceAllele": "C", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520149.1:c.4C>T" ], "proteinEffect": { "hgvs": "XP_011518451.1:p.Gln2Ter", "hgvsWellDefined": "XP_011518451.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087318" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520150.1:c.4C>T" ], "proteinEffect": { "hgvs": "XP_011518452.1:p.Gln2Ter", "hgvsWellDefined": "XP_011518452.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087319" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520152.1:c.4C>T" ], "proteinEffect": { "hgvs": "XP_011518454.1:p.Gln2Ter", "hgvsWellDefined": "XP_011518454.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087321" }, { "@id": "http://reg.genome.network/allele/PA2825645922", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Gln2Ter", "hgvsWellDefined": "NP_001121084.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676915" }, { "@id": "http://reg.genome.network/allele/PA2826474926", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Gln2Ter", "hgvsWellDefined": "NP_001245391.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680853" }, { "@id": "http://reg.genome.network/allele/PA2826475933", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Gln2Ter", "hgvsWellDefined": "NP_001245394.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680854" }, { "@id": "http://reg.genome.network/allele/PA2828292393", "coordinates": [ { "allele": "T", "end": 551, "referenceAllele": "C", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355816.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691449" }, { "@id": "http://reg.genome.network/allele/PA2828292726", "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355817.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691450" }, { "@id": "http://reg.genome.network/allele/PA2828293059", "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355818.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691451" }, { "@id": "http://reg.genome.network/allele/PA2828293392", "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355819.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691452" }, { "@id": "http://reg.genome.network/allele/PA2828293725", "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355820.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691453" }, { "@id": "http://reg.genome.network/allele/PA2828294058", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355821.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691454" }, { "@id": "http://reg.genome.network/allele/PA2828294395", "coordinates": [ { "allele": "T", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355822.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691455" }, { "@id": "http://reg.genome.network/allele/PA2828294732", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355823.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691456" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.1:c.-274C>T" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-274C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691466" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.1:c.-778C>T" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-778C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691467" }, { "coordinates": [ { "allele": "T", "end": 294, "endIntronDirection": "+", "endIntronOffset": 4420, "referenceAllele": "C", "start": 294, "startIntronDirection": "+", "startIntronOffset": 4419 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.1:c.-268+4420C>T" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-268+4420C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691471" }, { "@id": "http://reg.genome.network/allele/PA2828298045", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.1:c.104C>T" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Ala35Val", "hgvsWellDefined": "NP_001355839.1:p.Ala35Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS691472" }, { "coordinates": [ { "allele": "T", "end": 294, "endIntronDirection": "-", "endIntronOffset": 3573, "referenceAllele": "C", "start": 294, "startIntronDirection": "-", "startIntronOffset": 3574 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.1:c.14-3574C>T" ], "proteinEffect": { "hgvs": "NP_001355840.1:n.14-3574C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691473" }, { "@id": "http://reg.genome.network/allele/PA2828298578", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355841.1:p.Gln2_Met487delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691474" }, { "@id": "http://reg.genome.network/allele/PA2828298894", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355842.1:p.Gln2_Met487delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691475" }, { "@id": "http://reg.genome.network/allele/PA2828299207", "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355843.1:p.Gln2_Met487delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691476" }, { "@id": "http://reg.genome.network/allele/PA2828299526", "coordinates": [ { "allele": "T", "end": 551, "referenceAllele": "C", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355844.1:p.Gln2_Met473delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691477" }, { "@id": "http://reg.genome.network/allele/PA2828299837", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355845.1:p.Gln2_Met473delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691478" }, { "@id": "http://reg.genome.network/allele/PA2828300147", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355846.1:p.Gln2_Met473delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691479" }, { "@id": "http://reg.genome.network/allele/PA2828300453", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355847.1:p.Gln2_Gln461delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691480" }, { "@id": "http://reg.genome.network/allele/PA2828300800", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355848.1:p.Gln2_Gln461delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691481" }, { "@id": "http://reg.genome.network/allele/PA2828301124", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355849.1:p.Gln2_Gln447delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691482" }, { "@id": "http://reg.genome.network/allele/PA2828301442", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355850.1:p.Gln2_Met420delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691483" }, { "@id": "http://reg.genome.network/allele/PA2828301690", "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355851.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691484" }, { "@id": "http://reg.genome.network/allele/PA2828301956", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355852.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691485" }, { "@id": "http://reg.genome.network/allele/PA2828302222", "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355853.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691486" }, { "@id": "http://reg.genome.network/allele/PA2828302488", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355854.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691487" }, { "@id": "http://reg.genome.network/allele/PA2828302754", "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355855.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691488" }, { "@id": "http://reg.genome.network/allele/PA2828303020", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355856.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691489" }, { "@id": "http://reg.genome.network/allele/PA2828303262", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355857.1:p.Gln2_Gln355delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691490" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.1:n.426C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705223" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.1:n.473C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705224" }, { "@id": "http://reg.genome.network/allele/PA2825138535", "coordinates": [ { "allele": "T", "end": 327, "referenceAllele": "C", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.5:c.4C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Gln2Ter", "hgvsWellDefined": "NP_000271.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710820" }, { "@id": "http://reg.genome.network/allele/PA2825645922", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.3:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Gln2Ter", "hgvsWellDefined": "NP_001121084.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712221" }, { "@id": "http://reg.genome.network/allele/PA2826474926", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.3:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Gln2Ter", "hgvsWellDefined": "NP_001245391.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714982" }, { "@id": "http://reg.genome.network/allele/PA2826475263", "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Gln2Ter", "hgvsWellDefined": "NP_001245392.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714983" }, { "@id": "http://reg.genome.network/allele/PA2826475600", "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Gln2Ter", "hgvsWellDefined": "NP_001245393.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714984" }, { "@id": "http://reg.genome.network/allele/PA2826475933", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.3:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Gln2Ter", "hgvsWellDefined": "NP_001245394.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714985" }, { "@id": "http://reg.genome.network/allele/PA2826939887", "coordinates": [ { "allele": "T", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Gln2Ter", "hgvsWellDefined": "NP_001297087.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717309" }, { "@id": "http://reg.genome.network/allele/PA2828292393", "coordinates": [ { "allele": "T", "end": 551, "referenceAllele": "C", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355816.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721095" }, { "@id": "http://reg.genome.network/allele/PA2828292726", "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355817.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721096" }, { "@id": "http://reg.genome.network/allele/PA2828293059", "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355818.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721097" }, { "@id": "http://reg.genome.network/allele/PA2828293392", "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355819.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721098" }, { "@id": "http://reg.genome.network/allele/PA2828293725", "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355820.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721099" }, { "@id": "http://reg.genome.network/allele/PA2828294058", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355821.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721100" }, { "@id": "http://reg.genome.network/allele/PA2828294395", "coordinates": [ { "allele": "T", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355822.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721101" }, { "@id": "http://reg.genome.network/allele/PA2828294732", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355823.1:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721102", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.4C>T" }, "RefSeq": { "hgvs": "NM_001368894.2:c.4C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Gln2Ter" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Gln2Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.2:c.-274C>T" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-274C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721108" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.2:c.-778C>T" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-778C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721109" }, { "coordinates": [ { "allele": "T", "end": 294, "endIntronDirection": "+", "endIntronOffset": 4420, "referenceAllele": "C", "start": 294, "startIntronDirection": "+", "startIntronOffset": 4419 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.2:c.-268+4420C>T" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-268+4420C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721113" }, { "@id": "http://reg.genome.network/allele/PA2828298045", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.2:c.104C>T" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Ala35Val", "hgvsWellDefined": "NP_001355839.1:p.Ala35Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS721114" }, { "coordinates": [ { "allele": "T", "end": 294, "endIntronDirection": "-", "endIntronOffset": 3573, "referenceAllele": "C", "start": 294, "startIntronDirection": "-", "startIntronOffset": 3574 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.2:c.14-3574C>T" ], "proteinEffect": { "hgvs": "NP_001355840.1:n.14-3574C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721115" }, { "@id": "http://reg.genome.network/allele/PA2828298578", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355841.1:p.Gln2_Met487delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721116" }, { "@id": "http://reg.genome.network/allele/PA2828298894", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355842.1:p.Gln2_Met487delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721117" }, { "@id": "http://reg.genome.network/allele/PA2828299207", "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355843.1:p.Gln2_Met487delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721118" }, { "@id": "http://reg.genome.network/allele/PA2828299526", "coordinates": [ { "allele": "T", "end": 551, "referenceAllele": "C", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355844.1:p.Gln2_Met473delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721119" }, { "@id": "http://reg.genome.network/allele/PA2828299837", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355845.1:p.Gln2_Met473delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721120" }, { "@id": "http://reg.genome.network/allele/PA2828300147", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355846.1:p.Gln2_Met473delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721121" }, { "@id": "http://reg.genome.network/allele/PA2828300453", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355847.1:p.Gln2_Gln461delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721122" }, { "@id": "http://reg.genome.network/allele/PA2828300800", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355848.1:p.Gln2_Gln461delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721123" }, { "@id": "http://reg.genome.network/allele/PA2828301124", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355849.1:p.Gln2_Gln447delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721124" }, { "@id": "http://reg.genome.network/allele/PA2828301442", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355850.1:p.Gln2_Met420delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721125" }, { "@id": "http://reg.genome.network/allele/PA2828301690", "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355851.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721126" }, { "@id": "http://reg.genome.network/allele/PA2828301956", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355852.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721127" }, { "@id": "http://reg.genome.network/allele/PA2828302222", "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355853.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721128" }, { "@id": "http://reg.genome.network/allele/PA2828302488", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355854.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721129" }, { "@id": "http://reg.genome.network/allele/PA2828302754", "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355855.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721130" }, { "@id": "http://reg.genome.network/allele/PA2828303020", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355856.1:p.Gln2_Gln369delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721131" }, { "@id": "http://reg.genome.network/allele/PA2828303262", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Gln2Ter", "hgvsWellDefined": "NP_001355857.1:p.Gln2_Gln355delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721132" }, { "@id": "http://reg.genome.network/allele/PA2580254044", "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.6:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Gln2Ter", "hgvsWellDefined": "NP_001595.2:p.Gln2_Gln436delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727197" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.2:n.426C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731591" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.2:n.473C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731592" }, { "@id": "http://reg.genome.network/allele/PA2825138535", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.6:c.4C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Gln2Ter", "hgvsWellDefined": "NP_000271.1:p.Gln2_Gln422delinsAsnSerHisSerGlyValAsnGlnLeuGlyGlyValPheValAsnGlyArgProLeuProAspSerThrArgGlnLysIleValGluLeuAlaHisSerGlyAlaArgProCysAspIleSerArgIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781557" } ], "type": "nucleotide" }