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"http://reg.genome.network/allele/PA2828293208", "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.1:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355818.1:p.Gln136_Gln422delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691451" }, { "@id": "http://reg.genome.network/allele/PA2828293541", "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "C", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.1:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355819.1:p.Gln136_Gln422delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691452" }, { "@id": "http://reg.genome.network/allele/PA2828293874", "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.1:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Gln135Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2828294212", "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.1:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Gln149Ter", "hgvsWellDefined": 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"NP_001355823.1:p.Gln150_Gln436delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691456" }, { "coordinates": [ { "allele": "T", "end": 669, "referenceAllele": "C", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355828.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691461" }, { "coordinates": [ { "allele": "T", "end": 711, "referenceAllele": "C", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355829.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691462" }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355830.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691463" }, { "coordinates": [ { "allele": "T", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355831.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691464" }, { "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "C", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355832.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691465" }, { "coordinates": [ { "allele": "T", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691466" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691467" }, { "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355835.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691468" }, { "coordinates": [ { "allele": "T", "end": 1232, "referenceAllele": "C", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355836.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691469" }, { "coordinates": [ { "allele": "T", "end": 619, "referenceAllele": "C", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355837.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691470" }, { "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691471" }, { "@id": "http://reg.genome.network/allele/PA2828298171", "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.1:c.646C>T" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Gln216Ter", "hgvsWellDefined": "NP_001355839.1:p.Gln217_Gln503delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691472" }, { "@id": "http://reg.genome.network/allele/PA2828298426", "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.1:c.448C>T" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Gln150Ter", "hgvsWellDefined": "NP_001355840.1:p.Gln151_Met488delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691473" }, { "@id": "http://reg.genome.network/allele/PA2828298731", "coordinates": [ { "allele": "T", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.1:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Gln149Ter", "hgvsWellDefined": "NP_001355841.1:p.Gln150_Met487delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691474" }, { "@id": "http://reg.genome.network/allele/PA2828299047", "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.1:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Gln149Ter", "hgvsWellDefined": "NP_001355842.1:p.Gln150_Met487delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691475" }, { "@id": "http://reg.genome.network/allele/PA2828299363", "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "C", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.1:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Gln149Ter", "hgvsWellDefined": "NP_001355843.1:p.Gln150_Met487delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691476" }, { "@id": "http://reg.genome.network/allele/PA2828299675", "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.1:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355844.1:p.Gln136_Met473delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691477" }, { "@id": "http://reg.genome.network/allele/PA2828299987", "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.1:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355845.1:p.Gln136_Met473delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691478" }, { "@id": "http://reg.genome.network/allele/PA2828300290", "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.1:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355846.1:p.Gln136_Met473delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691479" }, { "@id": "http://reg.genome.network/allele/PA2828300617", "coordinates": [ { "allele": "T", "end": 942, "referenceAllele": "C", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.1:c.520C>T" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Gln174Ter", "hgvsWellDefined": "NP_001355847.1:p.Gln175_Gln461delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691480" }, { "@id": "http://reg.genome.network/allele/PA2828300941", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.1:c.520C>T" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Gln174Ter", "hgvsWellDefined": "NP_001355848.1:p.Gln175_Gln461delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691481" }, { "@id": "http://reg.genome.network/allele/PA2828301262", "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.1:c.478C>T" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Gln160Ter", "hgvsWellDefined": "NP_001355849.1:p.Gln161_Gln447delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691482" }, { "@id": "http://reg.genome.network/allele/PA2828301527", "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.1:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355850.1:p.Gln83_Met420delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691483" }, { "@id": "http://reg.genome.network/allele/PA2828301772", "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.1:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355851.1:p.Gln83_Gln369delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691484" }, { "@id": "http://reg.genome.network/allele/PA2828302039", "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.1:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355852.1:p.Gln83_Gln369delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691485" }, { "@id": "http://reg.genome.network/allele/PA2828302304", "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "C", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.1:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355853.1:p.Gln83_Gln369delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691486" }, { "@id": "http://reg.genome.network/allele/PA2828302571", "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "C", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.1:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355854.1:p.Gln83_Gln369delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691487" }, { "@id": "http://reg.genome.network/allele/PA2828302837", "coordinates": [ { "allele": "T", "end": 670, "referenceAllele": "C", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.1:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355855.1:p.Gln83_Gln369delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691488" }, { "@id": "http://reg.genome.network/allele/PA916047397", "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.1:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355856.1:p.Gln83_Gln369delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691489" }, { "@id": "http://reg.genome.network/allele/PA2828303340", "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.1:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Gln68Ter", "hgvsWellDefined": "NP_001355857.1:p.Gln69_Gln355delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691490" }, { "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "C", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.1:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355858.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691491" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.1:n.867C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705223" }, { "coordinates": [ { "allele": "T", "end": 872, "referenceAllele": "C", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.1:n.872C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705224" }, { "@id": "http://reg.genome.network/allele/PA645452845", "coordinates": [ { "allele": "T", "end": 726, "referenceAllele": "C", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.5:c.403C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Gln135Ter", "hgvsWellDefined": "NP_000271.1:p.Gln136_Gln422delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710820" }, { "@id": "http://reg.genome.network/allele/PA2825646071", "coordinates": [ { "allele": "T", "end": 872, "referenceAllele": "C", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.3:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Gln135Ter", "hgvsWellDefined": "NP_001121084.1:p.Gln136_Gln422delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712221" }, { "@id": "http://reg.genome.network/allele/PA2826475080", "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "C", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.3:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Gln149Ter", "hgvsWellDefined": "NP_001245391.1:p.Gln150_Gln436delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714982" }, { "@id": "http://reg.genome.network/allele/PA2826475417", "coordinates": [ { "allele": "T", "end": 872, "referenceAllele": "C", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.2:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Gln149Ter", "hgvsWellDefined": "NP_001245392.1:p.Gln150_Gln436delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714983" }, { "@id": "http://reg.genome.network/allele/PA2826475750", "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.2:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Gln135Ter", "hgvsWellDefined": "NP_001245393.1:p.Gln136_Gln422delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714984" }, { "@id": "http://reg.genome.network/allele/PA2826476083", "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.3:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Gln135Ter", "hgvsWellDefined": "NP_001245394.1:p.Gln136_Gln422delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714985" }, { "@id": "http://reg.genome.network/allele/PA2826940041", "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.2:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Gln149Ter", "hgvsWellDefined": "NP_001297087.1:p.Gln150_Gln436delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717309" }, { "coordinates": [ { "allele": "T", "end": 1991, "referenceAllele": "C", "start": 1990 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001297089.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717310" }, { "coordinates": [ { "allele": "T", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.3:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717311" }, { "@id": "http://reg.genome.network/allele/PA2828292543", "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.2:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355816.1:p.Gln136_Gln422delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721095" }, { "@id": "http://reg.genome.network/allele/PA2828292875", "coordinates": [ { "allele": "T", "end": 830, "referenceAllele": "C", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.2:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355817.1:p.Gln136_Gln422delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721096" }, { "@id": "http://reg.genome.network/allele/PA2828293208", "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.2:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355818.1:p.Gln136_Gln422delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721097" }, { "@id": "http://reg.genome.network/allele/PA2828293541", "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "C", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.2:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355819.1:p.Gln136_Gln422delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721098" }, { "@id": "http://reg.genome.network/allele/PA2828293874", "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.2:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355820.1:p.Gln136_Gln422delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721099" }, { "@id": "http://reg.genome.network/allele/PA2828294212", "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.2:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Gln149Ter", "hgvsWellDefined": "NP_001355821.1:p.Gln150_Gln436delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721100" }, { "@id": "http://reg.genome.network/allele/PA2828294548", "coordinates": [ { "allele": "T", "end": 941, "referenceAllele": "C", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.2:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Gln149Ter", "hgvsWellDefined": "NP_001355822.1:p.Gln150_Gln436delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721101" }, { "@id": "http://reg.genome.network/allele/PA2828294885", "coordinates": [ { "allele": "T", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.2:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Gln149Ter", "hgvsWellDefined": "NP_001355823.1:p.Gln150_Gln436delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721102", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.445C>T" }, "RefSeq": { "hgvs": "NM_001368894.2:c.445C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Gln149Ter" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Gln149Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 669, "referenceAllele": "C", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355828.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721103" }, { "coordinates": [ { "allele": "T", "end": 711, "referenceAllele": "C", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355829.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721104" }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355830.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721105" }, { "coordinates": [ { "allele": "T", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355831.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721106" }, { "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "C", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355832.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721107" }, { "coordinates": [ { "allele": "T", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721108" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721109" }, { "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355835.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721110" }, { "coordinates": [ { "allele": "T", "end": 1232, "referenceAllele": "C", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355836.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721111" }, { "coordinates": [ { "allele": "T", "end": 619, "referenceAllele": "C", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355837.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721112" }, { "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.2:c.-6C>T" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-6C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721113" }, { "@id": "http://reg.genome.network/allele/PA2828298171", "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.2:c.646C>T" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Gln216Ter", "hgvsWellDefined": "NP_001355839.1:p.Gln217_Gln503delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721114" }, { "@id": "http://reg.genome.network/allele/PA2828298426", "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.2:c.448C>T" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Gln150Ter", "hgvsWellDefined": "NP_001355840.1:p.Gln151_Met488delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721115" }, { "@id": "http://reg.genome.network/allele/PA2828298731", "coordinates": [ { "allele": "T", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.2:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Gln149Ter", "hgvsWellDefined": "NP_001355841.1:p.Gln150_Met487delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721116" }, { "@id": "http://reg.genome.network/allele/PA2828299047", "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.2:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Gln149Ter", "hgvsWellDefined": "NP_001355842.1:p.Gln150_Met487delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721117" }, { "@id": "http://reg.genome.network/allele/PA2828299363", "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "C", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.2:c.445C>T" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Gln149Ter", "hgvsWellDefined": "NP_001355843.1:p.Gln150_Met487delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721118" }, { "@id": "http://reg.genome.network/allele/PA2828299675", "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.2:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355844.1:p.Gln136_Met473delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721119" }, { "@id": "http://reg.genome.network/allele/PA2828299987", "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.2:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355845.1:p.Gln136_Met473delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721120" }, { "@id": "http://reg.genome.network/allele/PA2828300290", "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.2:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Gln135Ter", "hgvsWellDefined": "NP_001355846.1:p.Gln136_Met473delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721121" }, { "@id": "http://reg.genome.network/allele/PA2828300617", "coordinates": [ { "allele": "T", "end": 942, "referenceAllele": "C", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.2:c.520C>T" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Gln174Ter", "hgvsWellDefined": "NP_001355847.1:p.Gln175_Gln461delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721122" }, { "@id": "http://reg.genome.network/allele/PA2828300941", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.2:c.520C>T" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Gln174Ter", "hgvsWellDefined": "NP_001355848.1:p.Gln175_Gln461delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721123" }, { "@id": "http://reg.genome.network/allele/PA2828301262", "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.2:c.478C>T" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Gln160Ter", "hgvsWellDefined": "NP_001355849.1:p.Gln161_Gln447delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721124" }, { "@id": "http://reg.genome.network/allele/PA2828301527", "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.2:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355850.1:p.Gln83_Met420delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721125" }, { "@id": "http://reg.genome.network/allele/PA2828301772", "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.2:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355851.1:p.Gln83_Gln369delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721126" }, { "@id": "http://reg.genome.network/allele/PA2828302039", "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.2:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355852.1:p.Gln83_Gln369delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721127" }, { "@id": "http://reg.genome.network/allele/PA2828302304", "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "C", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.2:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355853.1:p.Gln83_Gln369delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721128" }, { "@id": "http://reg.genome.network/allele/PA2828302571", "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "C", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.2:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355854.1:p.Gln83_Gln369delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721129" }, { "@id": "http://reg.genome.network/allele/PA2828302837", "coordinates": [ { "allele": "T", "end": 670, "referenceAllele": "C", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.2:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355855.1:p.Gln83_Gln369delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721130" }, { "@id": "http://reg.genome.network/allele/PA916047397", "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.2:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Gln82Ter", "hgvsWellDefined": "NP_001355856.1:p.Gln83_Gln369delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721131" }, { "@id": "http://reg.genome.network/allele/PA2828303340", "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.2:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Gln68Ter", "hgvsWellDefined": "NP_001355857.1:p.Gln69_Gln355delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721132" }, { "coordinates": [ { "allele": 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"NP_001595.2:p.Gln150_Gln436delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727197" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.2:n.867C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731591" }, { "coordinates": [ { "allele": "T", "end": 872, "referenceAllele": "C", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.2:n.872C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731592" }, { "@id": "http://reg.genome.network/allele/PA645452845", "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.6:c.403C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Gln135Ter", "hgvsWellDefined": "NP_000271.1:p.Gln136_Gln422delinsMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781557" } ], "type": "nucleotide" }