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"ENSP00000492024.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" 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"ENST00000640460.1:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000492802.1:p.Arg103Ter", "hgvsWellDefined": "ENSP00000492802.1:p.Arg103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765507" }, { "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640610.1:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000491295.1:p.Arg103Ter", "hgvsWellDefined": "ENSP00000491295.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765580" }, { "coordinates": [ { "allele": "T", "end": 617, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 617, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640613.1:c.198+151C>T" ], "proteinEffect": { "hgvs": "ENSP00000492587.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765581" }, { "coordinates": [ { "allele": "T", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640684.1:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000491492.1:p.Arg117Ter", "hgvsWellDefined": "ENSP00000491492.1:p.Arg117_Asp415delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnValSerAlaAlaGlyGlyGlyLeuHisAsnProGlyProArgGluValArgSerGlySerGlyProAlaAspLeuIleGlyCysValCysThrLeuGluSerPheSerHisTyrSerAspTrpLeuAspGlnSerSerArgArgGlnSerIleProSerLeuLeuSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765617" }, { "coordinates": [ { "allele": "T", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640735.1:n.382C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS765648" }, { "coordinates": [ { "allele": "T", "end": 847, "referenceAllele": "C", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640766.1:c.-102C>T" ], "proteinEffect": { "hgvs": "ENSP00000491214.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765664" }, { "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640872.1:c.-102C>T" ], "proteinEffect": { "hgvs": "ENSP00000491065.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765711" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640963.1:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000492397.1:p.Arg117Ter", "hgvsWellDefined": "ENSP00000492397.1:p.Arg117Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765751" }, { "coordinates": [ { "allele": "T", "end": 859, "referenceAllele": "C", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640975.1:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000491872.1:p.Arg117Ter", "hgvsWellDefined": "ENSP00000491872.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765758" }, { "coordinates": [ { "allele": "T", "end": 840, "referenceAllele": "C", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000643871.1:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000495109.1:p.Arg103Ter", "hgvsWellDefined": "ENSP00000495109.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767517" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.12:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Arg103Ter", "hgvsWellDefined": "ENSP00000241001.8:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249157" }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379107.6:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000368401.2:p.Arg117Ter", "hgvsWellDefined": "ENSP00000368401.2:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272346" }, { "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379109.6:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000368403.2:p.Arg103Ter", "hgvsWellDefined": "ENSP00000368403.2:p.Arg103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS272348" }, { "coordinates": [ { "allele": "T", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379111.6:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000368406.2:p.Arg103Ter", "hgvsWellDefined": "ENSP00000368406.2:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272349" }, { "coordinates": [ { "allele": "T", "end": 784, "referenceAllele": "C", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379115.8:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000368410.4:p.Arg117Ter", "hgvsWellDefined": "ENSP00000368410.4:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272351" }, { "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379123.9:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000368418.5:p.Arg103Ter", "hgvsWellDefined": "ENSP00000368418.5:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272355" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379129.6:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000368424.2:p.Arg117Ter", "hgvsWellDefined": "ENSP00000368424.2:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272359" }, { "coordinates": [ { "allele": "T", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379132.7:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000368427.2:p.Arg103Ter", "hgvsWellDefined": "ENSP00000368427.2:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272360" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000419022.5:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000404100.1:p.Arg117Ter", "hgvsWellDefined": "ENSP00000404100.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285683" }, { "coordinates": [ { "allele": "T", "end": 322, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 322, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000455099.5:c.198+151C>T" ], "proteinEffect": { "hgvs": "ENSP00000397384.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS302876" }, { "coordinates": [ { "allele": "T", "end": 129, "endIntronDirection": "-", "endIntronOffset": 6822, "referenceAllele": "C", "start": 129, "startIntronDirection": "-", "startIntronOffset": 6823 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000464174.5:n.130-6823C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308064" }, { "coordinates": [ { "allele": "T", "end": 1551, "referenceAllele": "C", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000470027.6:n.1551C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS312565" }, { "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000471303.5:n.390C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS313536" }, { "coordinates": [ { "allele": "T", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000481563.5:n.413C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321447" }, { "coordinates": [ { "allele": "T", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000494377.6:n.796C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331325" }, { "coordinates": [ { "allele": "T", "end": 5213, "referenceAllele": "C", "start": 5212 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000533333.5:n.5213C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358121" }, { "coordinates": [ { "allele": "T", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000534353.5:n.507C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358975" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000534390.1:n.434C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS359009" }, { "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.5:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Arg117Ter", "hgvsWellDefined": "ENSP00000480026.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS399702" }, { "@id": "http://reg.genome.network/allele/PA252791", "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.4:c.307C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Arg103Ter", "hgvsWellDefined": "NP_000271.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006341" }, { "@id": "http://reg.genome.network/allele/PA2825646039", "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Arg103Ter", "hgvsWellDefined": "NP_001121084.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011650" }, { "@id": "http://reg.genome.network/allele/PA2826475047", "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.1:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Arg117Ter", "hgvsWellDefined": "NP_001245391.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019896" }, { "@id": "http://reg.genome.network/allele/PA2826475386", "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.1:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Arg117Ter", "hgvsWellDefined": "NP_001245392.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019897" }, { "@id": "http://reg.genome.network/allele/PA2826475717", "coordinates": [ { "allele": "T", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Arg103Ter", "hgvsWellDefined": "NP_001245393.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019898" }, { "@id": "http://reg.genome.network/allele/PA2826476051", "coordinates": [ { "allele": "T", "end": 750, "referenceAllele": "C", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Arg103Ter", "hgvsWellDefined": "NP_001245394.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019899" }, { "@id": "http://reg.genome.network/allele/PA2826940010", "coordinates": [ { "allele": "T", "end": 859, "referenceAllele": "C", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.1:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Arg117Ter", "hgvsWellDefined": "NP_001297087.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026395" }, { "@id": "http://reg.genome.network/allele/PA2826940343", "coordinates": [ { "allele": "T", "end": 435, "referenceAllele": "C", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310159.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001297088.1:p.Arg103Ter", "hgvsWellDefined": "NP_001297088.1:p.Arg103_Asp401delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnValSerAlaAlaGlyGlyGlyLeuHisAsnProGlyProArgGluValArgSerGlySerGlyProAlaAspLeuIleGlyCysValCysThrLeuGluSerPheSerHisTyrSerAspTrpLeuAspGlnSerSerArgArgGlnSerIleProSerLeuLeuSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026396" }, { "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.1:c.-433C>T" ], "proteinEffect": { "hgvs": "NP_001297089.1:n.-433C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS026397" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.1:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS026398" }, { "@id": "http://reg.genome.network/allele/PA252792", "coordinates": [ { "allele": "T", "end": 806, "referenceAllele": "C", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.5:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Arg117Ter", "hgvsWellDefined": "NP_001595.2:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026945" }, { "coordinates": [ { "allele": "T", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252954.3:c.349C>T" ], "proteinEffect": { "hgvs": "XP_005253011.1:p.Arg117Ter", "hgvsWellDefined": "XP_005253011.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060099" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252955.3:c.307C>T" ], "proteinEffect": { "hgvs": "XP_005253012.1:p.Arg103Ter", "hgvsWellDefined": "XP_005253012.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060100" }, { "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252956.3:c.307C>T" ], "proteinEffect": { "hgvs": "XP_005253013.1:p.Arg103Ter", "hgvsWellDefined": "XP_005253013.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060101" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252958.3:c.-433C>T" ], "proteinEffect": { "hgvs": "XP_005253015.1:n.-433C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS060102" }, { "coordinates": [ { "allele": "T", "end": 627, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 627, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_006718246.2:c.156+151C>T" ], "proteinEffect": { "hgvs": "XP_006718309.1:n.156+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS072538" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520146.1:c.553C>T" ], "proteinEffect": { "hgvs": "XP_011518448.1:p.Arg185Ter", "hgvsWellDefined": "XP_011518448.1:p.Arg185_Gln504delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087315" }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520147.1:c.511C>T" ], "proteinEffect": { "hgvs": "XP_011518449.1:p.Arg171Ter", "hgvsWellDefined": "XP_011518449.1:p.Arg171_Gln490delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087316" }, { "coordinates": [ { "allele": "T", "end": 549, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 549, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520148.1:c.402+151C>T" ], "proteinEffect": { "hgvs": "XP_011518450.1:n.402+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS087317" }, { "coordinates": [ { "allele": "T", "end": 1638, "referenceAllele": "C", "start": 1637 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520149.1:c.349C>T" ], "proteinEffect": { "hgvs": "XP_011518451.1:p.Arg117Ter", "hgvsWellDefined": "XP_011518451.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087318" }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520150.1:c.349C>T" ], "proteinEffect": { "hgvs": "XP_011518452.1:p.Arg117Ter", "hgvsWellDefined": "XP_011518452.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087319" }, { "coordinates": [ { "allele": "T", "end": 507, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 507, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520151.1:c.360+151C>T" ], "proteinEffect": { "hgvs": "XP_011518453.1:n.360+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS087320" }, { "coordinates": [ { "allele": "T", "end": 669, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 669, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520152.1:c.198+151C>T" ], "proteinEffect": { "hgvs": "XP_011518454.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS087321" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520153.1:c.-102C>T" ], "proteinEffect": { "hgvs": "XP_011518455.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS087322" }, { "@id": "http://reg.genome.network/allele/PA2825646039", "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Arg103Ter", "hgvsWellDefined": "NP_001121084.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676915" }, { "@id": "http://reg.genome.network/allele/PA2826475047", "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.2:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Arg117Ter", "hgvsWellDefined": "NP_001245391.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680853" }, { "@id": "http://reg.genome.network/allele/PA2826476051", "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Arg103Ter", "hgvsWellDefined": "NP_001245394.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680854" }, { "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.2:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS684056" }, { "@id": "http://reg.genome.network/allele/PA2828292510", "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355816.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691449" }, { "@id": "http://reg.genome.network/allele/PA2828292843", "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355817.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691450" }, { "@id": "http://reg.genome.network/allele/PA2828293178", "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355818.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691451" }, { "@id": "http://reg.genome.network/allele/PA2828293509", "coordinates": [ { "allele": "T", "end": 772, "referenceAllele": "C", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355819.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691452" }, { "@id": "http://reg.genome.network/allele/PA2828293843", "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355820.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691453" }, { "@id": "http://reg.genome.network/allele/PA2828294181", "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.1:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Arg117Ter", "hgvsWellDefined": "NP_001355821.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691454" }, { "@id": "http://reg.genome.network/allele/PA2828294516", "coordinates": [ { "allele": "T", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.1:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Arg117Ter", "hgvsWellDefined": "NP_001355822.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691455" }, { "@id": "http://reg.genome.network/allele/PA2828294853", "coordinates": [ { "allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.1:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Arg117Ter", "hgvsWellDefined": "NP_001355823.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691456" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "C", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.1:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355828.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691461" }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.1:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355829.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691462" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.1:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355830.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691463" }, { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.1:c.-433C>T" ], "proteinEffect": { "hgvs": "NP_001355831.1:n.-433C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691464" }, { "coordinates": [ { "allele": "T", "end": 1178, "referenceAllele": "C", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.1:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355832.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691465" }, { "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.1:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691466" }, { "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.1:c.-433C>T" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-433C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691467" }, { "coordinates": [ { "allele": "T", "end": 1053, "referenceAllele": "C", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.1:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355835.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691468" }, { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.1:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355836.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691469" }, { "coordinates": [ { "allele": "T", "end": 523, "referenceAllele": "C", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.1:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355837.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691470" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.1:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691471" }, { "@id": "http://reg.genome.network/allele/PA916047326", "coordinates": [ { "allele": "T", "end": 974, "referenceAllele": "C", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.1:c.550C>T" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Arg184Ter", "hgvsWellDefined": "NP_001355839.1:p.Arg184_Gln503delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691472" }, { "@id": "http://reg.genome.network/allele/PA2828298395", "coordinates": [ { "allele": "T", "end": 633, "referenceAllele": "C", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.1:c.352C>T" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Arg118Ter", "hgvsWellDefined": "NP_001355840.1:p.Arg118_Met488delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691473" }, { "@id": "http://reg.genome.network/allele/PA2828298701", "coordinates": [ { "allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.1:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Arg117Ter", "hgvsWellDefined": "NP_001355841.1:p.Arg117_Met487delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691474" }, { "@id": "http://reg.genome.network/allele/PA2828299017", "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.1:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Arg117Ter", "hgvsWellDefined": "NP_001355842.1:p.Arg117_Met487delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691475" }, { "@id": "http://reg.genome.network/allele/PA2828299331", "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.1:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Arg117Ter", "hgvsWellDefined": "NP_001355843.1:p.Arg117_Met487delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691476" }, { "@id": "http://reg.genome.network/allele/PA2828299645", "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355844.1:p.Arg103_Met473delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691477" }, { "@id": "http://reg.genome.network/allele/PA2828299957", "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355845.1:p.Arg103_Met473delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691478" }, { "@id": "http://reg.genome.network/allele/PA2828300258", "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "C", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355846.1:p.Arg103_Met473delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691479" }, { "@id": "http://reg.genome.network/allele/PA2828300586", "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Arg142Ter", "hgvsWellDefined": "NP_001355847.1:p.Arg142_Gln461delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691480" }, { "@id": "http://reg.genome.network/allele/PA2828300910", "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Arg142Ter", "hgvsWellDefined": "NP_001355848.1:p.Arg142_Gln461delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691481" }, { "@id": "http://reg.genome.network/allele/PA2828301230", "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Arg128Ter", "hgvsWellDefined": "NP_001355849.1:p.Arg128_Gln447delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691482" }, { "coordinates": [ { "allele": "T", "end": 667, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 667, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.1:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355850.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691483" }, { "coordinates": [ { "allele": "T", "end": 724, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 724, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.1:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355851.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691484" }, { "coordinates": [ { "allele": "T", "end": 667, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 667, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.1:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355852.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691485" }, { "coordinates": [ { "allele": "T", "end": 659, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 659, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.1:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355853.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691486" }, { "coordinates": [ { "allele": "T", "end": 620, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 620, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.1:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355854.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691487" }, { "coordinates": [ { "allele": "T", "end": 624, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 624, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.1:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355855.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691488" }, { "coordinates": [ { "allele": "T", "end": 722, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 722, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.1:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355856.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691489" }, { "coordinates": [ { "allele": "T", "end": 578, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 578, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.1:c.156+151C>T" ], "proteinEffect": { "hgvs": "NP_001355857.1:n.156+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691490" }, { "coordinates": [ { "allele": "T", "end": 1178, "referenceAllele": "C", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.1:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355858.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691491" }, { "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.1:n.771C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705223" }, { "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.1:n.776C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705224" }, { "@id": "http://reg.genome.network/allele/PA252791", "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.5:c.307C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Arg103Ter", "hgvsWellDefined": "NP_000271.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710820" }, { "@id": "http://reg.genome.network/allele/PA2825646039", "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.3:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Arg103Ter", "hgvsWellDefined": "NP_001121084.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712221" }, { "@id": "http://reg.genome.network/allele/PA2826475047", "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.3:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Arg117Ter", "hgvsWellDefined": "NP_001245391.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714982" }, { "@id": "http://reg.genome.network/allele/PA2826475386", "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.2:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Arg117Ter", "hgvsWellDefined": "NP_001245392.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714983" }, { "@id": "http://reg.genome.network/allele/PA2826475717", "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Arg103Ter", "hgvsWellDefined": "NP_001245393.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714984" }, { "@id": "http://reg.genome.network/allele/PA2826476051", "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.3:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Arg103Ter", "hgvsWellDefined": "NP_001245394.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714985" }, { "@id": "http://reg.genome.network/allele/PA2826940010", "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.2:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Arg117Ter", "hgvsWellDefined": "NP_001297087.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717309" }, { "coordinates": [ { "allele": "T", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.2:c.-433C>T" ], "proteinEffect": { "hgvs": "NP_001297089.1:n.-433C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717310" }, { "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.3:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717311" }, { "@id": "http://reg.genome.network/allele/PA2828292510", "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355816.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721095" }, { "@id": "http://reg.genome.network/allele/PA2828292843", "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355817.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721096" }, { "@id": "http://reg.genome.network/allele/PA2828293178", "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355818.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721097" }, { "@id": "http://reg.genome.network/allele/PA2828293509", "coordinates": [ { "allele": "T", "end": 772, "referenceAllele": "C", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355819.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721098" }, { "@id": "http://reg.genome.network/allele/PA2828293843", "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355820.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721099" }, { "@id": "http://reg.genome.network/allele/PA2828294181", "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.2:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Arg117Ter", "hgvsWellDefined": "NP_001355821.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721100" }, { "@id": "http://reg.genome.network/allele/PA2828294516", "coordinates": [ { "allele": "T", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.2:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Arg117Ter", "hgvsWellDefined": "NP_001355822.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721101" }, { "@id": "http://reg.genome.network/allele/PA2828294853", "coordinates": [ { "allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.2:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Arg117Ter", "hgvsWellDefined": "NP_001355823.1:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721102", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.349C>T" }, "RefSeq": { "hgvs": "NM_001368894.2:c.349C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Arg117Ter" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Arg117Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "C", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.2:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355828.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721103" }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.2:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355829.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721104" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.2:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355830.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721105" }, { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.2:c.-433C>T" ], "proteinEffect": { "hgvs": "NP_001355831.1:n.-433C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721106" }, { "coordinates": [ { "allele": "T", "end": 1178, "referenceAllele": "C", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.2:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355832.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721107" }, { "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.2:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721108" }, { "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.2:c.-433C>T" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-433C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721109" }, { "coordinates": [ { "allele": "T", "end": 1053, "referenceAllele": "C", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.2:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355835.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721110" }, { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.2:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355836.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721111" }, { "coordinates": [ { "allele": "T", "end": 523, "referenceAllele": "C", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.2:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355837.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721112" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.2:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721113" }, { "@id": "http://reg.genome.network/allele/PA916047326", "coordinates": [ { "allele": "T", "end": 974, "referenceAllele": "C", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.2:c.550C>T" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Arg184Ter", "hgvsWellDefined": "NP_001355839.1:p.Arg184_Gln503delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721114" }, { "@id": "http://reg.genome.network/allele/PA2828298395", "coordinates": [ { "allele": "T", "end": 633, "referenceAllele": "C", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.2:c.352C>T" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Arg118Ter", "hgvsWellDefined": "NP_001355840.1:p.Arg118_Met488delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721115" }, { "@id": "http://reg.genome.network/allele/PA2828298701", "coordinates": [ { "allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.2:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Arg117Ter", "hgvsWellDefined": "NP_001355841.1:p.Arg117_Met487delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721116" }, { "@id": "http://reg.genome.network/allele/PA2828299017", "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.2:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Arg117Ter", "hgvsWellDefined": "NP_001355842.1:p.Arg117_Met487delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721117" }, { "@id": "http://reg.genome.network/allele/PA2828299331", "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.2:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Arg117Ter", "hgvsWellDefined": "NP_001355843.1:p.Arg117_Met487delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721118" }, { "@id": "http://reg.genome.network/allele/PA2828299645", "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355844.1:p.Arg103_Met473delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721119" }, { "@id": "http://reg.genome.network/allele/PA2828299957", "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355845.1:p.Arg103_Met473delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721120" }, { "@id": "http://reg.genome.network/allele/PA2828300258", "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "C", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Arg103Ter", "hgvsWellDefined": "NP_001355846.1:p.Arg103_Met473delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnAspSerPheProLeuValCysGlnPheGlnPheLysPheProGluValAsnLeuIleCysLeuAsnThrGlyGlnAspTyrSerLysLysLysLysLysLysLysLysGluArgLysTyrCysValAsnSerValSerAspTyrGlyAspThrThrValGluLeuSerGlyLysLysGluLysTrpLeuLeuGluProLeuGlnPheTyrAsnCysValLeuTyrCysThrThrGlyGluGlyMetAspLeuLysGlnGlyProLeuTyrThrGluGlyThrIleSerValGlyThrAsnLeuHisPheGlyIleGlnThrPheIleHisPheGlyValLeuPheValAsnGlyHisLeuTyrValIleMetLysLysArgThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721121" }, { "@id": "http://reg.genome.network/allele/PA2828300586", "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Arg142Ter", "hgvsWellDefined": "NP_001355847.1:p.Arg142_Gln461delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721122" }, { "@id": "http://reg.genome.network/allele/PA2828300910", "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Arg142Ter", "hgvsWellDefined": "NP_001355848.1:p.Arg142_Gln461delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721123" }, { "@id": "http://reg.genome.network/allele/PA2828301230", "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Arg128Ter", "hgvsWellDefined": "NP_001355849.1:p.Arg128_Gln447delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721124" }, { "coordinates": [ { "allele": "T", "end": 667, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 667, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.2:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355850.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721125" }, { "coordinates": [ { "allele": "T", "end": 724, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 724, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.2:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355851.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721126" }, { "coordinates": [ { "allele": "T", "end": 667, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 667, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.2:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355852.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721127" }, { "coordinates": [ { "allele": "T", "end": 659, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 659, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.2:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355853.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721128" }, { "coordinates": [ { "allele": "T", "end": 620, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 620, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.2:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355854.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721129" }, { "coordinates": [ { "allele": "T", "end": 624, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 624, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.2:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355855.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721130" }, { "coordinates": [ { "allele": "T", "end": 722, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 722, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.2:c.198+151C>T" ], "proteinEffect": { "hgvs": "NP_001355856.1:n.198+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721131" }, { "coordinates": [ { "allele": "T", "end": 578, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "C", "start": 578, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.2:c.156+151C>T" ], "proteinEffect": { "hgvs": "NP_001355857.1:n.156+151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721132" }, { "coordinates": [ { "allele": "T", "end": 1178, "referenceAllele": "C", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.2:c.-102C>T" ], "proteinEffect": { "hgvs": "NP_001355858.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721133" }, { "@id": "http://reg.genome.network/allele/PA252792", "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.6:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Arg117Ter", "hgvsWellDefined": "NP_001595.2:p.Arg117_Gln436delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727197" }, { "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.2:n.771C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731591" }, { "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.2:n.776C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731592" }, { "@id": "http://reg.genome.network/allele/PA252791", "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "C", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.6:c.307C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Arg103Ter", "hgvsWellDefined": "NP_000271.1:p.Arg103_Gln422delinsAspArgLeuLeuSerGluGlyValCysThrAsnAspAsnIleProSerValSerSerIleAsnArgValLeuArgAsnLeuAlaSerGluLysGlnGlnMetGlyAlaAspGlyMetTyrAspLysLeuArgMetLeuAsnGlyGlnThrGlySerTrpGlyThrArgProGlyTrpTyrProGlyThrSerValProGlyGlnProThrGlnAspGlyCysGlnGlnGlnGluGlyGlyGlyGluAsnThrAsnSerIleSerSerAsnGlyGluAspSerAspGluAlaGlnMetArgLeuGlnLeuLysArgLysLeuGlnArgAsnArgThrSerPheThrGlnGluGlnIleGluAlaLeuGluLysGluPheGluArgThrHisTyrProAspValPheAlaArgGluArgLeuAlaAlaLysIleAspLeuProGluAlaArgIleGlnValTrpPheSerAsnArgArgAlaLysTrpArgArgGluGluLysLeuArgAsnGlnArgArgGlnAlaSerAsnThrProSerHisIleProIleSerSerSerPheSerThrSerValTyrGlnProIleProGlnProThrThrProValSerSerPheThrSerGlySerMetLeuGlyArgThrAspThrAlaLeuThrAsnThrTyrSerAlaLeuProProMetProSerPheThrMetAlaAsnAsnLeuProMetGlnProProValProSerGlnThrSerSerTyrSerCysMetLeuProThrSerProSerValAsnGlyArgSerTyrAspThrTyrThrProProHisMetGlnThrHisMetAsnSerGlnProMetGlyThrSerGlyThrThrSerThrGlyLeuIleSerProGlyValSerValProValGlnValProGlySerGluProAspMetSerGlnTyrTrpProArgLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781557" } ], "type": "nucleotide" }