{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379959480", "communityStandardTitle": [ "NM_001368894.2(PAX6):c.130C>T (p.Arg44Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1353475", "active": true, "id": "COSM1353475" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=424543[alleleid]", "alleleId": 424543, "preferredName": "NM_001368894.2(PAX6):c.130C>T (p.Arg44Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/430976", "RCV": [ "RCV000496034" ], "variationId": 430976 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31824263G>A?assembly=hg19", "id": "chr11:g.31824263G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31802715G>A?assembly=hg38", "id": "chr11:g.31802715G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/141873759", "rs": 141873759 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 31802715, "referenceAllele": "G", "start": 31802714 } ], "hgvs": [ "NC_000011.10:g.31802715G>A", "CM000673.2:g.31802715G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 31824263, "referenceAllele": "G", "start": 31824262 } ], "hgvs": [ "NC_000011.9:g.31824263G>A", "CM000673.1:g.31824263G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 31780839, "referenceAllele": "G", "start": 31780838 } ], "hgvs": [ "NC_000011.8:g.31780839G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 20247, "referenceAllele": "C", "start": 20246 } ], "hgvs": [ 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"http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379123.10:c.-279C>T" ], "proteinEffect": { "hgvs": "ENSP00000368418.6:n.-279C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS752178" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379129.7:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000368424.2:p.Arg44Ter", "hgvsWellDefined": "ENSP00000368424.2:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" 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"ENSP00000368427.2:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" 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"ENSP00000404100.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" 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"http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000455099.6:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000397384.2:p.Arg44Ter", "hgvsWellDefined": "ENSP00000397384.2:p.Arg44Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS756498" }, { "coordinates": [ { "allele": "T", "end": 1746, "referenceAllele": "C", "start": 1745 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000470027.7:n.1746C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS756986" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000471303.6:n.552C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757021" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": 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"ENSP00000490963.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765241" }, { "coordinates": [ { "allele": "T", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639920.1:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000492111.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000492111.1:p.Arg44Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765242" }, { "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639943.1:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000491229.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000491229.1:p.Arg44Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765252" }, { "coordinates": [ { "allele": "T", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639950.1:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000491862.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000491862.1:p.Arg44_Pro419del" }, "referenceSequence": "http://reg.genome.network/refseq/RS765255" }, { "coordinates": [ { "allele": "T", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640125.1:c.-171C>T" ], "proteinEffect": { "hgvs": "ENSP00000492166.1:n.-171C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765349" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640172.1:n.663C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS765368" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640242.1:c.133C>T" ], "proteinEffect": { "hgvs": "ENSP00000492409.1:p.Arg45Ter", "hgvsWellDefined": "ENSP00000492409.1:p.Arg45Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765398" }, { "coordinates": [ { "allele": "T", "end": 348, "referenceAllele": "C", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640287.1:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000492822.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000492822.1:p.Arg44Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765421" }, { "coordinates": [ { "allele": "T", "end": 357, "endIntronDirection": "+", "endIntronOffset": 3687, "referenceAllele": "C", "start": 357, "startIntronDirection": "+", "startIntronOffset": 3686 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640335.1:c.10+3687C>T" ], "proteinEffect": { "hgvs": "ENSP00000492808.1:n.10+3687C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765446" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640368.2:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000492024.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000492024.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.130C>T" }, "RefSeq": { "hgvs": "NM_001368894.2:c.130C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Arg44Ter" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Arg44Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640431.1:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000491779.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000491779.1:p.Arg44Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765494" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640460.1:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000492802.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000492802.1:p.Arg44Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765507" }, { "coordinates": [ { "allele": "T", "end": 565, "referenceAllele": "C", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640610.1:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000491295.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000491295.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765580" }, { "coordinates": [ { "allele": "T", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640613.1:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000492587.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000492587.1:p.Arg44Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765581" }, { "coordinates": [ { "allele": "T", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640684.1:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000491492.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000491492.1:p.Arg44_Asp415delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnValSerAlaAlaGlyGlyGlyLeuHisAsnProGlyProArgGluValArgSerGlySerGlyProAlaAspLeuIleGlyCysValCysThrLeuGluSerPheSerHisTyrSerAspTrpLeuAspGlnSerSerArgArgGlnSerIleProSerLeuLeuSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765617" }, { "coordinates": [ { "allele": "T", "end": 670, "referenceAllele": "C", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640766.1:c.-279C>T" ], "proteinEffect": { "hgvs": "ENSP00000491214.1:n.-279C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765664" }, { "coordinates": [ { "allele": "T", "end": 1246, "referenceAllele": "C", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640872.1:c.-279C>T" ], "proteinEffect": { "hgvs": "ENSP00000491065.1:n.-279C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765711" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640963.1:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000492397.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000492397.1:p.Arg44Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765751" }, { "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640975.1:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000491872.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000491872.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765758" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000643871.1:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000495109.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000495109.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767517" }, { "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.12:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Arg44Ter", "hgvsWellDefined": "ENSP00000241001.8:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" 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"ENSP00000368401.2:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272346" }, { "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "C", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379109.6:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000368403.2:p.Arg44Ter", "hgvsWellDefined": "ENSP00000368403.2:p.Arg44Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS272348" }, { "coordinates": [ { "allele": "T", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379111.6:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000368406.2:p.Arg44Ter", "hgvsWellDefined": "ENSP00000368406.2:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" 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"ENSP00000368410.4:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS272359" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379132.7:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000368427.2:p.Arg44Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000530714.5:n.396C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS355922" }, { "coordinates": [ { "allele": "T", "end": 745, "referenceAllele": "C", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000533156.1:n.745C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS357969" }, { "coordinates": [ { "allele": "T", "end": 4109, "referenceAllele": "C", "start": 4108 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000533333.5:n.4109C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358121" }, { "coordinates": [ { "allele": "T", "end": 288, "referenceAllele": "C", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000534353.5:n.288C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358975" }, { "coordinates": [ { "allele": "T", "end": 257, "referenceAllele": "C", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000534390.1:n.257C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS359009" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.5:c.130C>T" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Arg44Ter", "hgvsWellDefined": "ENSP00000480026.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS399702" }, { "@id": "http://reg.genome.network/allele/PA645452538", "coordinates": [ { "allele": "T", "end": 685, "referenceAllele": "C", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.4:c.130C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Arg44Ter", "hgvsWellDefined": "NP_000271.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006341" }, { "@id": "http://reg.genome.network/allele/PA2825645967", "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Arg44Ter", "hgvsWellDefined": "NP_001121084.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011650" }, { "@id": "http://reg.genome.network/allele/PA2826474971", "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Arg44Ter", "hgvsWellDefined": "NP_001245391.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019896" }, { "@id": "http://reg.genome.network/allele/PA2826475310", "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Arg44Ter", "hgvsWellDefined": "NP_001245392.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019897" }, { "@id": "http://reg.genome.network/allele/PA2826475647", "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Arg44Ter", "hgvsWellDefined": "NP_001245393.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019898" }, { "@id": "http://reg.genome.network/allele/PA2826475980", "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "C", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Arg44Ter", "hgvsWellDefined": "NP_001245394.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019899" }, { "@id": "http://reg.genome.network/allele/PA2826939933", "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Arg44Ter", "hgvsWellDefined": "NP_001297087.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026395" }, { "@id": "http://reg.genome.network/allele/PA2826940271", "coordinates": [ { "allele": "T", "end": 258, "referenceAllele": "C", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310159.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001297088.1:p.Arg44Ter", "hgvsWellDefined": "NP_001297088.1:p.Arg44_Asp401delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnValSerAlaAlaGlyGlyGlyLeuHisAsnProGlyProArgGluValArgSerGlySerGlyProAlaAspLeuIleGlyCysValCysThrLeuGluSerPheSerHisTyrSerAspTrpLeuAspGlnSerSerArgArgGlnSerIleProSerLeuLeuSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026396" }, { "coordinates": [ { "allele": "T", "end": 1523, "referenceAllele": "C", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.1:c.-652C>T" ], "proteinEffect": { "hgvs": "NP_001297089.1:n.-652C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS026397" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.1:c.-321C>T" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-321C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS026398" }, { "@id": "http://reg.genome.network/allele/PA2829332260", "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.5:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Arg44Ter", "hgvsWellDefined": "NP_001595.2:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026945" }, { "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "C", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252954.3:c.130C>T" ], "proteinEffect": { "hgvs": "XP_005253011.1:p.Arg44Ter", "hgvsWellDefined": "XP_005253011.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060099" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252955.3:c.130C>T" ], "proteinEffect": { "hgvs": "XP_005253012.1:p.Arg44Ter", "hgvsWellDefined": "XP_005253012.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060100" }, { "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "C", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252956.3:c.130C>T" ], "proteinEffect": { "hgvs": "XP_005253013.1:p.Arg44Ter", "hgvsWellDefined": "XP_005253013.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060101" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252958.3:c.-652C>T" ], "proteinEffect": { "hgvs": "XP_005253015.1:n.-652C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS060102" }, { "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "C", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_006718246.2:c.130C>T" ], "proteinEffect": { "hgvs": "XP_006718309.1:p.Arg44Ter", "hgvsWellDefined": "XP_006718309.1:p.Arg44_Gln355delinsIleLeuGlnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072538" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "C", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520146.1:c.334C>T" ], "proteinEffect": { "hgvs": "XP_011518448.1:p.Arg112Ter", "hgvsWellDefined": "XP_011518448.1:p.Arg112_Gln504delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087315" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520147.1:c.334C>T" ], "proteinEffect": { "hgvs": "XP_011518449.1:p.Arg112Ter", "hgvsWellDefined": "XP_011518449.1:p.Arg112_Gln490delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087316" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "C", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520148.1:c.334C>T" ], "proteinEffect": { "hgvs": "XP_011518450.1:p.Arg112Ter", "hgvsWellDefined": "XP_011518450.1:p.Arg112_Gln437delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087317" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520149.1:c.130C>T" ], "proteinEffect": { "hgvs": "XP_011518451.1:p.Arg44Ter", "hgvsWellDefined": "XP_011518451.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087318" }, { "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520150.1:c.130C>T" ], "proteinEffect": { "hgvs": "XP_011518452.1:p.Arg44Ter", "hgvsWellDefined": "XP_011518452.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087319" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "C", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520151.1:c.334C>T" ], "proteinEffect": { "hgvs": "XP_011518453.1:p.Arg112Ter", "hgvsWellDefined": "XP_011518453.1:p.Arg112_Gln423delinsIleLeuGlnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087320" }, { "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "C", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520152.1:c.130C>T" ], "proteinEffect": { "hgvs": "XP_011518454.1:p.Arg44Ter", "hgvsWellDefined": "XP_011518454.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087321" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520153.1:c.-321C>T" ], "proteinEffect": { "hgvs": "XP_011518455.1:n.-321C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS087322" }, { "@id": "http://reg.genome.network/allele/PA2825645967", "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Arg44Ter", "hgvsWellDefined": "NP_001121084.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676915" }, { "@id": "http://reg.genome.network/allele/PA2826474971", "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Arg44Ter", "hgvsWellDefined": "NP_001245391.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680853" }, { "@id": "http://reg.genome.network/allele/PA2826475980", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Arg44Ter", "hgvsWellDefined": "NP_001245394.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680854" }, { "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.2:c.-321C>T" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-321C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS684056" }, { "@id": "http://reg.genome.network/allele/PA2828292440", "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355816.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691449" }, { "@id": "http://reg.genome.network/allele/PA2828292772", "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355817.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691450" }, { "@id": "http://reg.genome.network/allele/PA2828293104", "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355818.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691451" }, { "@id": "http://reg.genome.network/allele/PA2828293437", "coordinates": [ { "allele": "T", "end": 595, "referenceAllele": "C", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355819.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691452" }, { "@id": "http://reg.genome.network/allele/PA2828293770", "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355820.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691453" }, { "@id": "http://reg.genome.network/allele/PA2828294103", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355821.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691454" }, { "@id": "http://reg.genome.network/allele/PA2828294442", "coordinates": [ { "allele": "T", "end": 626, "referenceAllele": "C", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355822.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691455" }, { "@id": "http://reg.genome.network/allele/PA2828294777", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355823.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691456" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.1:c.-279C>T" ], "proteinEffect": { "hgvs": "NP_001355828.1:n.-279C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691461" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.1:c.-321C>T" ], "proteinEffect": { "hgvs": "NP_001355829.1:n.-321C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691462" }, { "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.1:c.-279C>T" ], "proteinEffect": { "hgvs": "NP_001355830.1:n.-279C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691463" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.1:c.-610C>T" ], "proteinEffect": { "hgvs": "NP_001355831.1:n.-610C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691464" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.1:c.-321C>T" ], "proteinEffect": { "hgvs": "NP_001355832.1:n.-321C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691465" }, { "coordinates": [ { "allele": "T", "end": 432, "endIntronDirection": "-", "endIntronOffset": 938, "referenceAllele": "C", "start": 432, "startIntronDirection": "-", "startIntronOffset": 939 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.1:c.-267-939C>T" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-267-939C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691466" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.1:c.-652C>T" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-652C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691467" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "C", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.1:c.-279C>T" ], "proteinEffect": { "hgvs": "NP_001355835.1:n.-279C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691468" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.1:c.-279C>T" ], "proteinEffect": { "hgvs": "NP_001355836.1:n.-279C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691469" }, { "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "C", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.1:c.-321C>T" ], "proteinEffect": { "hgvs": "NP_001355837.1:n.-321C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691470" }, { "coordinates": [ { "allele": "T", "end": 294, "endIntronDirection": "-", "endIntronOffset": 938, "referenceAllele": "C", "start": 294, "startIntronDirection": "-", "startIntronOffset": 939 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.1:c.-267-939C>T" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-267-939C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691471" }, { "@id": "http://reg.genome.network/allele/PA2828298080", "coordinates": [ { "allele": "T", "end": 797, "referenceAllele": "C", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.1:c.373C>T" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Arg125Ter", "hgvsWellDefined": "NP_001355839.1:p.Arg125_Gln503delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691472" }, { "@id": "http://reg.genome.network/allele/PA916047354", "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.1:c.133C>T" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Arg45Ter", "hgvsWellDefined": "NP_001355840.1:p.Arg45_Met488delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691473" }, { "@id": "http://reg.genome.network/allele/PA2828298623", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355841.1:p.Arg44_Met487delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691474" }, { "@id": "http://reg.genome.network/allele/PA2828298939", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355842.1:p.Arg44_Met487delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691475" }, { "@id": "http://reg.genome.network/allele/PA2828299256", "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355843.1:p.Arg44_Met487delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691476" }, { "@id": "http://reg.genome.network/allele/PA2828299573", "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355844.1:p.Arg44_Met473delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691477" }, { "@id": "http://reg.genome.network/allele/PA2828299885", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355845.1:p.Arg44_Met473delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691478" }, { "@id": "http://reg.genome.network/allele/PA2828300197", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355846.1:p.Arg44_Met473delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691479" }, { "@id": "http://reg.genome.network/allele/PA2828300500", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355847.1:p.Arg44_Gln461delinsIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691480" }, { "@id": "http://reg.genome.network/allele/PA2828300846", "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355848.1:p.Arg44_Gln461delinsIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691481" }, { "@id": "http://reg.genome.network/allele/PA2828301170", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355849.1:p.Arg44_Gln447delinsIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691482" }, { "@id": "http://reg.genome.network/allele/PA2828301492", "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355850.1:p.Arg44_Met420delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691483" }, { "@id": "http://reg.genome.network/allele/PA2828301736", "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355851.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691484" }, { "@id": "http://reg.genome.network/allele/PA2828302003", "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355852.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691485" }, { "@id": "http://reg.genome.network/allele/PA2828302267", "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355853.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691486" }, { "@id": "http://reg.genome.network/allele/PA2828302535", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355854.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691487" }, { "@id": "http://reg.genome.network/allele/PA2828302801", "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355855.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691488" }, { "@id": "http://reg.genome.network/allele/PA2828303065", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355856.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691489" }, { "@id": "http://reg.genome.network/allele/PA2828303307", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355857.1:p.Arg44_Gln355delinsIleLeuGlnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691490" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.1:c.-321C>T" ], "proteinEffect": { "hgvs": "NP_001355858.1:n.-321C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691491" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.1:n.552C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705223" }, { "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.1:n.599C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705224" }, { "@id": "http://reg.genome.network/allele/PA645452538", "coordinates": [ { "allele": "T", "end": 453, "referenceAllele": "C", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.5:c.130C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Arg44Ter", "hgvsWellDefined": "NP_000271.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710820" }, { "@id": "http://reg.genome.network/allele/PA2825645967", "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.3:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Arg44Ter", "hgvsWellDefined": "NP_001121084.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712221" }, { "@id": "http://reg.genome.network/allele/PA2826474971", "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.3:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Arg44Ter", "hgvsWellDefined": "NP_001245391.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714982" }, { "@id": "http://reg.genome.network/allele/PA2826475310", "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Arg44Ter", "hgvsWellDefined": "NP_001245392.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714983" }, { "@id": "http://reg.genome.network/allele/PA2826475647", "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Arg44Ter", "hgvsWellDefined": "NP_001245393.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714984" }, { "@id": "http://reg.genome.network/allele/PA2826475980", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.3:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Arg44Ter", "hgvsWellDefined": "NP_001245394.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714985" }, { "@id": "http://reg.genome.network/allele/PA2826939933", "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Arg44Ter", "hgvsWellDefined": "NP_001297087.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717309" }, { "coordinates": [ { "allele": "T", "end": 1345, "referenceAllele": "C", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.2:c.-652C>T" ], "proteinEffect": { "hgvs": "NP_001297089.1:n.-652C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717310" }, { "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.3:c.-321C>T" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-321C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717311" }, { "@id": "http://reg.genome.network/allele/PA2828292440", "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355816.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721095" }, { "@id": "http://reg.genome.network/allele/PA2828292772", "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355817.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721096" }, { "@id": "http://reg.genome.network/allele/PA2828293104", "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355818.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721097" }, { "@id": "http://reg.genome.network/allele/PA2828293437", "coordinates": [ { "allele": "T", "end": 595, "referenceAllele": "C", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355819.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721098" }, { "@id": "http://reg.genome.network/allele/PA2828293770", "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355820.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721099" }, { "@id": "http://reg.genome.network/allele/PA2828294103", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355821.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721100" }, { "@id": "http://reg.genome.network/allele/PA2828294442", "coordinates": [ { "allele": "T", "end": 626, "referenceAllele": "C", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355822.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721101" }, { "@id": "http://reg.genome.network/allele/PA2828294777", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355823.1:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721102", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.130C>T" }, "RefSeq": { "hgvs": "NM_001368894.2:c.130C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Arg44Ter" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Arg44Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.2:c.-279C>T" ], "proteinEffect": { "hgvs": "NP_001355828.1:n.-279C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721103" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.2:c.-321C>T" ], "proteinEffect": { "hgvs": "NP_001355829.1:n.-321C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721104" }, { "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.2:c.-279C>T" ], "proteinEffect": { "hgvs": "NP_001355830.1:n.-279C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721105" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.2:c.-610C>T" ], "proteinEffect": { "hgvs": "NP_001355831.1:n.-610C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721106" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.2:c.-321C>T" ], "proteinEffect": { "hgvs": "NP_001355832.1:n.-321C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721107" }, { "coordinates": [ { "allele": "T", "end": 432, "endIntronDirection": "-", "endIntronOffset": 938, "referenceAllele": "C", "start": 432, "startIntronDirection": "-", "startIntronOffset": 939 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.2:c.-267-939C>T" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-267-939C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721108" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.2:c.-652C>T" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-652C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721109" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "C", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.2:c.-279C>T" ], "proteinEffect": { "hgvs": "NP_001355835.1:n.-279C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721110" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.2:c.-279C>T" ], "proteinEffect": { "hgvs": "NP_001355836.1:n.-279C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721111" }, { "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "C", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.2:c.-321C>T" ], "proteinEffect": { "hgvs": "NP_001355837.1:n.-321C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721112" }, { "coordinates": [ { "allele": "T", "end": 294, "endIntronDirection": "-", "endIntronOffset": 938, "referenceAllele": "C", "start": 294, "startIntronDirection": "-", "startIntronOffset": 939 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.2:c.-267-939C>T" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-267-939C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721113" }, { "@id": "http://reg.genome.network/allele/PA2828298080", "coordinates": [ { "allele": "T", "end": 797, "referenceAllele": "C", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.2:c.373C>T" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Arg125Ter", "hgvsWellDefined": "NP_001355839.1:p.Arg125_Gln503delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721114" }, { "@id": "http://reg.genome.network/allele/PA916047354", "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.2:c.133C>T" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Arg45Ter", "hgvsWellDefined": "NP_001355840.1:p.Arg45_Met488delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721115" }, { "@id": "http://reg.genome.network/allele/PA2828298623", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355841.1:p.Arg44_Met487delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721116" }, { "@id": "http://reg.genome.network/allele/PA2828298939", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355842.1:p.Arg44_Met487delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721117" }, { "@id": "http://reg.genome.network/allele/PA2828299256", "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355843.1:p.Arg44_Met487delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721118" }, { "@id": "http://reg.genome.network/allele/PA2828299573", "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355844.1:p.Arg44_Met473delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721119" }, { "@id": "http://reg.genome.network/allele/PA2828299885", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355845.1:p.Arg44_Met473delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721120" }, { "@id": "http://reg.genome.network/allele/PA2828300197", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355846.1:p.Arg44_Met473delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721121" }, { "@id": "http://reg.genome.network/allele/PA2828300500", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355847.1:p.Arg44_Gln461delinsIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721122" }, { "@id": "http://reg.genome.network/allele/PA2828300846", "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355848.1:p.Arg44_Gln461delinsIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721123" }, { "@id": "http://reg.genome.network/allele/PA2828301170", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355849.1:p.Arg44_Gln447delinsIleLeuGlnValIleLeuProAlaProProHisSerProProProArgProSerThrLeuAsnAlaLeuSerSerPheLeuThrValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721124" }, { "@id": "http://reg.genome.network/allele/PA2828301492", "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355850.1:p.Arg44_Met420delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721125" }, { "@id": "http://reg.genome.network/allele/PA2828301736", "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355851.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721126" }, { "@id": "http://reg.genome.network/allele/PA2828302003", "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355852.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721127" }, { "@id": "http://reg.genome.network/allele/PA2828302267", "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355853.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721128" }, { "@id": "http://reg.genome.network/allele/PA2828302535", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355854.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721129" }, { "@id": "http://reg.genome.network/allele/PA2828302801", "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355855.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721130" }, { "@id": "http://reg.genome.network/allele/PA2828303065", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355856.1:p.Arg44_Gln369delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721131" }, { "@id": "http://reg.genome.network/allele/PA2828303307", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Arg44Ter", "hgvsWellDefined": "NP_001355857.1:p.Arg44_Gln355delinsIleLeuGlnValSerAsnGlyCysValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721132" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.2:c.-321C>T" ], "proteinEffect": { "hgvs": "NP_001355858.1:n.-321C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721133" }, { "@id": "http://reg.genome.network/allele/PA2829332260", "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.6:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Arg44Ter", "hgvsWellDefined": "NP_001595.2:p.Arg44_Gln436delinsIleLeuGlnThrHisAlaAspAlaLysValGlnValLeuAspAsnGlnAsnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727197" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.2:n.552C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731591" }, { "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.2:n.599C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731592" }, { "@id": "http://reg.genome.network/allele/PA645452538", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.6:c.130C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Arg44Ter", "hgvsWellDefined": "NP_000271.1:p.Arg44_Gln422delinsIleLeuGlnValSerAsnGlyCysValSerLysIleLeuGlyArgTyrTyrGluThrGlySerIleArgProArgAlaIleGlyGlySerLysProArgValAlaThrProGluValValSerLysIleAlaGlnTyrLysArgGluCysProSerIlePheAlaTrpGluIleArgAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781557" } ], "type": "nucleotide" }