{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA116221", "communityStandardTitle": [ "NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18509[alleleid]", "alleleId": 18509, "preferredName": "NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3470", "RCV": [ "RCV000003635", "RCV000984410", "RCV001851621" ], "variationId": 3470 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31822380G>A?assembly=hg19", "id": "chr11:g.31822380G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31800832G>A?assembly=hg38", "id": "chr11:g.31800832G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121907918", "rs": 121907918 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 31800832, "referenceAllele": "G", "start": 31800831 } ], "hgvs": [ "NC_000011.10:g.31800832G>A", "CM000673.2:g.31800832G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 31822380, "referenceAllele": "G", "start": 31822379 } ], "hgvs": [ "NC_000011.9:g.31822380G>A", "CM000673.1:g.31822380G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 31778956, "referenceAllele": "G", "start": 31778955 } ], "hgvs": [ "NC_000011.8:g.31778956G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 22130, "referenceAllele": "C", "start": 22129 } ], "hgvs": [ "NG_008679.1:g.22130C>T", "LRG_720:g.22130C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001164" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.13:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Arg128Cys", "hgvsWellDefined": "ENSP00000241001.8:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS741099" }, { "coordinates": [ { "allele": "T", "end": 952, "referenceAllele": "C", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379107.7:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000368401.2:p.Arg142Cys", "hgvsWellDefined": "ENSP00000368401.2:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS752173" }, { "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379109.7:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000368403.2:p.Arg128Cys", "hgvsWellDefined": "ENSP00000368403.2:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS752174" }, { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379111.7:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000368406.3:p.Arg128Cys", "hgvsWellDefined": "ENSP00000368406.3:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS752175" }, { "coordinates": [ { "allele": "T", "end": 747, "referenceAllele": "C", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379115.9:c.223C>T" ], "proteinEffect": { "hgvs": "ENSP00000368410.5:p.Arg75Cys", "hgvsWellDefined": "ENSP00000368410.5:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS752176" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379123.10:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000368418.6:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS752178" }, { "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "C", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379129.7:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000368424.2:p.Arg142Cys", "hgvsWellDefined": "ENSP00000368424.2:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS752179" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379132.8:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000368427.2:p.Arg128Cys", "hgvsWellDefined": "ENSP00000368427.2:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS752180" }, { "coordinates": [ { "allele": "T", "end": 859, "referenceAllele": "C", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000419022.6:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000404100.1:p.Arg142Cys", "hgvsWellDefined": "ENSP00000404100.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS754772" }, { "coordinates": [ { "allele": "T", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000423822.7:c.223C>T" ], "proteinEffect": { "hgvs": "ENSP00000388132.3:p.Arg75Cys", "hgvsWellDefined": "ENSP00000388132.3:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS754997" }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "C", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000438681.6:c.223C>T" ], "proteinEffect": { "hgvs": "ENSP00000404356.2:p.Arg75Cys", "hgvsWellDefined": "ENSP00000404356.2:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS755709" }, { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000455099.6:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000397384.2:p.Arg142Cys", "hgvsWellDefined": "ENSP00000397384.2:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS756498" }, { "coordinates": [ { "allele": "T", "end": 2702, "referenceAllele": "C", "start": 2701 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000470027.7:n.2702C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS756986" }, { "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000471303.6:n.804C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757021" }, { "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "C", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000474783.2:n.912C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757128" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000481563.6:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000492205.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS757378" }, { "coordinates": [ { "allele": "T", "end": 1188, "referenceAllele": "C", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000494377.7:n.1188C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757766" }, { "coordinates": [ { "allele": "T", "end": 1351, "referenceAllele": "C", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000524853.6:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000431585.2:p.Arg128Cys", "hgvsWellDefined": "ENSP00000431585.2:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS758876" }, { "coordinates": [ { "allele": "T", "end": 1089, "referenceAllele": "C", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000531910.6:n.1089C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759266" }, { "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.7:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Arg142Cys", "hgvsWellDefined": "ENSP00000480026.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS761660" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638250.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000491365.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764429" }, { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638346.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000491267.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764483" }, { "coordinates": [ { "allele": "T", "end": 1957, "referenceAllele": "C", "start": 1956 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638629.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000490971.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764625" }, { "coordinates": [ { "allele": "T", "end": 869, "endIntronDirection": "+", "endIntronOffset": 5570, "referenceAllele": "C", "start": 869, "startIntronDirection": "+", "startIntronOffset": 5569 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638685.1:c.10+5570C>T" ], "proteinEffect": { "hgvs": "ENSP00000492316.1:n.10+5570C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764650" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638696.1:c.316C>T" ], "proteinEffect": { "hgvs": "ENSP00000492756.1:p.Arg106Cys", "hgvsWellDefined": "ENSP00000492756.1:p.Arg106Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764655" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638755.1:c.274C>T" ], "proteinEffect": { "hgvs": "ENSP00000492181.1:p.Arg92Cys", "hgvsWellDefined": "ENSP00000492181.1:p.Arg92Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764687" }, { "coordinates": [ { "allele": "T", "end": 1838, "referenceAllele": "C", "start": 1837 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638762.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000491517.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764689" }, { "coordinates": [ { "allele": "T", "end": 690, "referenceAllele": "C", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638802.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000492437.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764711" }, { "coordinates": [ { "allele": "T", "end": 389, "referenceAllele": "C", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638853.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000491280.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764738" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638878.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000492081.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764753" }, { "coordinates": [ { "allele": "T", "end": 1531, "referenceAllele": "C", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638913.1:n.1531C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764765" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638914.3:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000492315.2:p.Arg142Cys", "hgvsWellDefined": "ENSP00000492315.2:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764766" }, { "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638963.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000491948.1:p.Arg128Cys", "hgvsWellDefined": "ENSP00000491948.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764792" }, { "coordinates": [ { "allele": "T", "end": 129, "endIntronDirection": "-", "endIntronOffset": 6043, "referenceAllele": "C", "start": 129, "startIntronDirection": "-", "startIntronOffset": 6044 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638965.1:c.-80-6044C>T" ], "proteinEffect": { "hgvs": "ENSP00000492769.1:n.-80-6044C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764793" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639006.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000491210.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764814" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639034.2:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000491679.1:p.Arg128Cys", "hgvsWellDefined": "ENSP00000491679.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764827" }, { "coordinates": [ { "allele": "T", "end": 1505, "referenceAllele": "C", "start": 1504 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639054.1:n.1505C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764840" }, { "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639061.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000491324.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764844" }, { "coordinates": [ { "allele": "T", "end": 1793, "referenceAllele": "C", "start": 1792 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639079.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000492129.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764855" }, { "coordinates": [ { "allele": "T", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639109.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000491904.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764869" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639386.2:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000492658.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765000" }, { "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "C", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639394.1:c.*263C>T" ], "proteinEffect": { "hgvs": "ENSP00000492177.1:n.*263C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765006" }, { "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "C", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639409.1:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000492476.1:p.Arg142Cys", "hgvsWellDefined": "ENSP00000492476.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765012" }, { "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639548.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000491944.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765076" }, { "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639916.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000490963.1:p.Arg128Cys", "hgvsWellDefined": "ENSP00000490963.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765241" }, { "coordinates": [ { "allele": "T", "end": 1864, "referenceAllele": "C", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639943.1:c.223C>T" ], "proteinEffect": { "hgvs": "ENSP00000491229.1:p.Arg75Cys", "hgvsWellDefined": "ENSP00000491229.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765252" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639950.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000491862.1:p.Arg128Cys", "hgvsWellDefined": "ENSP00000491862.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765255" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640125.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000492166.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765349" }, { "coordinates": [ { "allele": "T", "end": 1661, "referenceAllele": "C", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640172.1:n.1661C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS765368" }, { "coordinates": [ { "allele": "T", "end": 659, "referenceAllele": "C", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640242.1:c.385C>T" ], "proteinEffect": { "hgvs": "ENSP00000492409.1:p.Arg129Cys", "hgvsWellDefined": "ENSP00000492409.1:p.Arg129Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765398" }, { "coordinates": [ { "allele": "T", "end": 600, "referenceAllele": "C", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640287.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000492822.1:p.Arg128Cys", "hgvsWellDefined": "ENSP00000492822.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765421" }, { "coordinates": [ { "allele": "T", "end": 357, "endIntronDirection": "+", "endIntronOffset": 5570, "referenceAllele": "C", "start": 357, "startIntronDirection": "+", "startIntronOffset": 5569 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640335.1:c.10+5570C>T" ], "proteinEffect": { "hgvs": "ENSP00000492808.1:n.10+5570C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765446" }, { "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640368.2:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000492024.1:p.Arg142Cys", "hgvsWellDefined": "ENSP00000492024.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.424C>T" }, "RefSeq": { "hgvs": "NM_001368894.2:c.424C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Arg142Cys" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Arg142Cys" } } } }, { "coordinates": [ { "allele": "T", "end": 1349, "referenceAllele": "C", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640431.1:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000491779.1:p.Arg142Cys", "hgvsWellDefined": "ENSP00000491779.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765494" }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640460.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000492802.1:p.Arg128Cys", "hgvsWellDefined": "ENSP00000492802.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765507" }, { "coordinates": [ { "allele": "T", "end": 817, "referenceAllele": "C", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640610.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000491295.1:p.Arg128Cys", "hgvsWellDefined": "ENSP00000491295.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765580" }, { "coordinates": [ { "allele": "T", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640613.1:c.223C>T" ], "proteinEffect": { "hgvs": "ENSP00000492587.1:p.Arg75Cys", "hgvsWellDefined": "ENSP00000492587.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765581" }, { "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640684.1:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000491492.1:p.Arg142Cys", "hgvsWellDefined": "ENSP00000491492.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765617" }, { "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640735.1:n.457C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS765648" }, { "coordinates": [ { "allele": "T", "end": 922, "referenceAllele": "C", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640766.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000491214.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765664" }, { "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640872.1:c.-27C>T" ], "proteinEffect": { "hgvs": "ENSP00000491065.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765711" }, { "coordinates": [ { "allele": "T", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640963.1:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000492397.1:p.Arg142Cys", "hgvsWellDefined": "ENSP00000492397.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765751" }, { "coordinates": [ { "allele": "T", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640975.1:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000491872.1:p.Arg142Cys", "hgvsWellDefined": "ENSP00000491872.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765758" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000643871.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000495109.1:p.Arg128Cys", "hgvsWellDefined": "ENSP00000495109.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS767517" }, { "coordinates": [ { "allele": "T", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.12:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Arg128Cys", "hgvsWellDefined": "ENSP00000241001.8:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS249157" }, { "coordinates": [ { "allele": "T", "end": 952, "referenceAllele": "C", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379107.6:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000368401.2:p.Arg142Cys", "hgvsWellDefined": "ENSP00000368401.2:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS272346" }, { "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379109.6:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000368403.2:p.Arg128Cys", "hgvsWellDefined": "ENSP00000368403.2:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS272348" }, { "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379111.6:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000368406.2:p.Arg128Cys", "hgvsWellDefined": "ENSP00000368406.2:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS272349" }, { "coordinates": [ { "allele": "T", "end": 859, "referenceAllele": "C", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379115.8:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000368410.4:p.Arg142Cys", "hgvsWellDefined": "ENSP00000368410.4:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS272351" }, { "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379123.9:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000368418.5:p.Arg128Cys", "hgvsWellDefined": "ENSP00000368418.5:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS272355" }, { "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "C", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379129.6:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000368424.2:p.Arg142Cys", "hgvsWellDefined": "ENSP00000368424.2:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS272359" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379132.7:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000368427.2:p.Arg128Cys", "hgvsWellDefined": "ENSP00000368427.2:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS272360" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000419022.5:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000404100.1:p.Arg142Cys", "hgvsWellDefined": "ENSP00000404100.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS285683" }, { "coordinates": [ { "allele": "T", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000455099.5:c.223C>T" ], "proteinEffect": { "hgvs": "ENSP00000397384.1:p.Arg75Cys", "hgvsWellDefined": "ENSP00000397384.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS302876" }, { "coordinates": [ { "allele": "T", "end": 129, "endIntronDirection": "-", "endIntronOffset": 6043, "referenceAllele": "C", "start": 129, "startIntronDirection": "-", "startIntronOffset": 6044 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000464174.5:n.130-6044C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308064" }, { "coordinates": [ { "allele": "T", "end": 1957, "referenceAllele": "C", "start": 1956 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000470027.6:n.1957C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS312565" }, { "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000471303.5:n.465C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS313536" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000481563.5:n.488C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321447" }, { "coordinates": [ { "allele": "T", "end": 1575, "referenceAllele": "C", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000494377.6:n.1575C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331325" }, { "coordinates": [ { "allele": "T", "end": 131, "referenceAllele": "C", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000531910.5:n.131C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS356921" }, { "coordinates": [ { "allele": "T", "end": 5288, "referenceAllele": "C", "start": 5287 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000533333.5:n.5288C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358121" }, { "coordinates": [ { "allele": "T", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000534390.1:n.509C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS359009" }, { "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "C", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.5:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Arg142Cys", "hgvsWellDefined": "ENSP00000480026.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS399702" }, { "@id": "http://reg.genome.network/allele/PA106910", "coordinates": [ { "allele": "T", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.4:c.382C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Arg128Cys", "hgvsWellDefined": "NP_000271.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006341" }, { "@id": "http://reg.genome.network/allele/PA2825646068", "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Arg128Cys", "hgvsWellDefined": "NP_001121084.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011650" }, { "@id": "http://reg.genome.network/allele/PA2826475076", "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Arg142Cys", "hgvsWellDefined": "NP_001245391.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS019896" }, { "@id": "http://reg.genome.network/allele/PA2826475410", "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "C", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Arg142Cys", "hgvsWellDefined": "NP_001245392.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS019897" }, { "@id": "http://reg.genome.network/allele/PA2826475744", "coordinates": [ { "allele": "T", "end": 839, "referenceAllele": "C", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Arg128Cys", "hgvsWellDefined": "NP_001245393.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS019898" }, { "@id": "http://reg.genome.network/allele/PA2826476075", "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Arg128Cys", "hgvsWellDefined": "NP_001245394.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS019899" }, { "@id": "http://reg.genome.network/allele/PA2826940036", "coordinates": [ { "allele": "T", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Arg142Cys", "hgvsWellDefined": "NP_001297087.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS026395" }, { "@id": "http://reg.genome.network/allele/PA2826940370", "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310159.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001297088.1:p.Arg128Cys", "hgvsWellDefined": "NP_001297088.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS026396" }, { "coordinates": [ { "allele": "T", "end": 2148, "referenceAllele": "C", "start": 2147 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001297089.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS026397" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS026398" }, { "@id": "http://reg.genome.network/allele/PA116223", "coordinates": [ { "allele": "T", "end": 881, "referenceAllele": "C", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.5:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Arg142Cys", "hgvsWellDefined": "NP_001595.2:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS026945" }, { "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252954.3:c.424C>T" ], "proteinEffect": { "hgvs": "XP_005253011.1:p.Arg142Cys", "hgvsWellDefined": "XP_005253011.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS060099" }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252955.3:c.382C>T" ], "proteinEffect": { "hgvs": "XP_005253012.1:p.Arg128Cys", "hgvsWellDefined": "XP_005253012.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS060100" }, { "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252956.3:c.382C>T" ], "proteinEffect": { "hgvs": "XP_005253013.1:p.Arg128Cys", "hgvsWellDefined": "XP_005253013.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS060101" }, { "coordinates": [ { "allele": "T", "end": 1031, "referenceAllele": "C", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252958.3:c.-27C>T" ], "proteinEffect": { "hgvs": "XP_005253015.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS060102" }, { "coordinates": [ { "allele": "T", "end": 652, "referenceAllele": "C", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_006718246.2:c.181C>T" ], "proteinEffect": { "hgvs": "XP_006718309.1:p.Arg61Cys", "hgvsWellDefined": "XP_006718309.1:p.Arg61Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS072538" }, { "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520146.1:c.628C>T" ], "proteinEffect": { "hgvs": "XP_011518448.1:p.Arg210Cys", "hgvsWellDefined": "XP_011518448.1:p.Arg210Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS087315" }, { "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520147.1:c.586C>T" ], "proteinEffect": { "hgvs": "XP_011518449.1:p.Arg196Cys", "hgvsWellDefined": "XP_011518449.1:p.Arg196Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS087316" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520148.1:c.427C>T" ], "proteinEffect": { "hgvs": "XP_011518450.1:p.Arg143Cys", "hgvsWellDefined": "XP_011518450.1:p.Arg143Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS087317" }, { "coordinates": [ { "allele": "T", "end": 1713, "referenceAllele": "C", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520149.1:c.424C>T" ], "proteinEffect": { "hgvs": "XP_011518451.1:p.Arg142Cys", "hgvsWellDefined": "XP_011518451.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS087318" }, { "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520150.1:c.424C>T" ], "proteinEffect": { "hgvs": "XP_011518452.1:p.Arg142Cys", "hgvsWellDefined": "XP_011518452.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS087319" }, { "coordinates": [ { "allele": "T", "end": 532, "referenceAllele": "C", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520151.1:c.385C>T" ], "proteinEffect": { "hgvs": "XP_011518453.1:p.Arg129Cys", "hgvsWellDefined": "XP_011518453.1:p.Arg129Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS087320" }, { "coordinates": [ { "allele": "T", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520152.1:c.223C>T" ], "proteinEffect": { "hgvs": "XP_011518454.1:p.Arg75Cys", "hgvsWellDefined": "XP_011518454.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS087321" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520153.1:c.-27C>T" ], "proteinEffect": { "hgvs": "XP_011518455.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS087322" }, { "@id": "http://reg.genome.network/allele/PA2825646068", "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Arg128Cys", "hgvsWellDefined": "NP_001121084.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676915" }, { "@id": "http://reg.genome.network/allele/PA2826475076", "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Arg142Cys", "hgvsWellDefined": "NP_001245391.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS680853" }, { "@id": "http://reg.genome.network/allele/PA2826476075", "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Arg128Cys", "hgvsWellDefined": "NP_001245394.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS680854" }, { "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS684056" }, { "@id": "http://reg.genome.network/allele/PA2828292539", "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "C", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355816.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691449" }, { "@id": "http://reg.genome.network/allele/PA2828292868", "coordinates": [ { "allele": "T", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355817.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691450" }, { "@id": "http://reg.genome.network/allele/PA2828293201", "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355818.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691451" }, { "@id": "http://reg.genome.network/allele/PA2828293536", "coordinates": [ { "allele": "T", "end": 847, "referenceAllele": "C", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355819.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691452" }, { "@id": "http://reg.genome.network/allele/PA2828293868", "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355820.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691453" }, { "@id": "http://reg.genome.network/allele/PA2828294208", "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Arg142Cys", "hgvsWellDefined": "NP_001355821.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691454" }, { "@id": "http://reg.genome.network/allele/PA2828294545", "coordinates": [ { "allele": "T", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Arg142Cys", "hgvsWellDefined": "NP_001355822.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691455" }, { "@id": "http://reg.genome.network/allele/PA2828294879", "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Arg142Cys", "hgvsWellDefined": "NP_001355823.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691456" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355828.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691461" }, { "coordinates": [ { "allele": "T", "end": 690, "referenceAllele": "C", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355829.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691462" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355830.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691463" }, { "coordinates": [ { "allele": "T", "end": 1542, "referenceAllele": "C", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355831.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691464" }, { "coordinates": [ { "allele": "T", "end": 1253, "referenceAllele": "C", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355832.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691465" }, { "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691466" }, { "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691467" }, { "coordinates": [ { "allele": "T", "end": 1128, "referenceAllele": "C", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355835.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691468" }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355836.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691469" }, { "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355837.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691470" }, { "coordinates": [ { "allele": "T", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691471" }, { "@id": "http://reg.genome.network/allele/PA2828298164", "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.1:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Arg209Cys", "hgvsWellDefined": "NP_001355839.1:p.Arg209Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691472" }, { "@id": "http://reg.genome.network/allele/PA2828298420", "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.1:c.427C>T" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Arg143Cys", "hgvsWellDefined": "NP_001355840.1:p.Arg143Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691473" }, { "@id": "http://reg.genome.network/allele/PA2828298725", "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Arg142Cys", "hgvsWellDefined": "NP_001355841.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691474" }, { "@id": "http://reg.genome.network/allele/PA2828299040", "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Arg142Cys", "hgvsWellDefined": "NP_001355842.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691475" }, { "@id": "http://reg.genome.network/allele/PA2828299356", "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Arg142Cys", "hgvsWellDefined": "NP_001355843.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691476" }, { "@id": "http://reg.genome.network/allele/PA2828299672", "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "C", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355844.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691477" }, { "@id": "http://reg.genome.network/allele/PA2828299981", "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355845.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691478" }, { "@id": "http://reg.genome.network/allele/PA2828300287", "coordinates": [ { "allele": "T", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.1:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355846.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691479" }, { "@id": "http://reg.genome.network/allele/PA2828300611", "coordinates": [ { "allele": "T", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.1:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Arg167Cys", "hgvsWellDefined": "NP_001355847.1:p.Arg167Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691480" }, { "@id": "http://reg.genome.network/allele/PA2828300937", "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.1:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Arg167Cys", "hgvsWellDefined": "NP_001355848.1:p.Arg167Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691481" }, { "@id": "http://reg.genome.network/allele/PA2828301256", "coordinates": [ { "allele": "T", "end": 879, "referenceAllele": "C", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.1:c.457C>T" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Arg153Cys", "hgvsWellDefined": "NP_001355849.1:p.Arg153Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691482" }, { "@id": "http://reg.genome.network/allele/PA2828301524", "coordinates": [ { "allele": "T", "end": 692, "referenceAllele": "C", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.1:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355850.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691483" }, { "@id": "http://reg.genome.network/allele/PA2828301768", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "C", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.1:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355851.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691484" }, { "@id": "http://reg.genome.network/allele/PA2828302035", "coordinates": [ { "allele": "T", "end": 692, "referenceAllele": "C", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.1:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355852.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691485" }, { "@id": "http://reg.genome.network/allele/PA2828302301", "coordinates": [ { "allele": "T", "end": 684, "referenceAllele": "C", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.1:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355853.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691486" }, { "@id": "http://reg.genome.network/allele/PA2828302567", "coordinates": [ { "allele": "T", "end": 645, "referenceAllele": "C", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.1:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355854.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691487" }, { "@id": "http://reg.genome.network/allele/PA2828302833", "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "C", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.1:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355855.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691488" }, { "@id": "http://reg.genome.network/allele/PA916047395", "coordinates": [ { "allele": "T", "end": 747, "referenceAllele": "C", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.1:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355856.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691489" }, { "@id": "http://reg.genome.network/allele/PA2828303333", "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.1:c.181C>T" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Arg61Cys", "hgvsWellDefined": "NP_001355857.1:p.Arg61Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691490" }, { "coordinates": [ { "allele": "T", "end": 1253, "referenceAllele": "C", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.1:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355858.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691491" }, { "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.1:n.846C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705223" }, { "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.1:n.851C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705224" }, { "@id": "http://reg.genome.network/allele/PA106910", "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "C", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.5:c.382C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Arg128Cys", "hgvsWellDefined": "NP_000271.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS710820" }, { "@id": "http://reg.genome.network/allele/PA2825646068", "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.3:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Arg128Cys", "hgvsWellDefined": "NP_001121084.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712221" }, { "@id": "http://reg.genome.network/allele/PA2826475076", "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.3:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Arg142Cys", "hgvsWellDefined": "NP_001245391.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS714982" }, { "@id": "http://reg.genome.network/allele/PA2826475410", "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Arg142Cys", "hgvsWellDefined": "NP_001245392.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS714983" }, { "@id": "http://reg.genome.network/allele/PA2826475744", "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Arg128Cys", "hgvsWellDefined": "NP_001245393.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS714984" }, { "@id": "http://reg.genome.network/allele/PA2826476075", "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.3:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Arg128Cys", "hgvsWellDefined": "NP_001245394.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS714985" }, { "@id": "http://reg.genome.network/allele/PA2826940036", "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "C", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Arg142Cys", "hgvsWellDefined": "NP_001297087.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS717309" }, { "coordinates": [ { "allele": "T", "end": 1970, "referenceAllele": "C", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001297089.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717310" }, { "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.3:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717311" }, { "@id": "http://reg.genome.network/allele/PA2828292539", "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "C", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355816.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721095" }, { "@id": "http://reg.genome.network/allele/PA2828292868", "coordinates": [ { "allele": "T", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355817.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721096" }, { "@id": "http://reg.genome.network/allele/PA2828293201", "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355818.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721097" }, { "@id": "http://reg.genome.network/allele/PA2828293536", "coordinates": [ { "allele": "T", "end": 847, "referenceAllele": "C", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355819.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721098" }, { "@id": "http://reg.genome.network/allele/PA2828293868", "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355820.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721099" }, { "@id": "http://reg.genome.network/allele/PA2828294208", "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Arg142Cys", "hgvsWellDefined": "NP_001355821.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721100" }, { "@id": "http://reg.genome.network/allele/PA2828294545", "coordinates": [ { "allele": "T", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Arg142Cys", "hgvsWellDefined": "NP_001355822.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721101" }, { "@id": "http://reg.genome.network/allele/PA2828294879", "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Arg142Cys", "hgvsWellDefined": "NP_001355823.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721102", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.424C>T" }, "RefSeq": { "hgvs": "NM_001368894.2:c.424C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Arg142Cys" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Arg142Cys" } } } }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355828.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721103" }, { "coordinates": [ { "allele": "T", "end": 690, "referenceAllele": "C", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355829.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721104" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355830.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721105" }, { "coordinates": [ { "allele": "T", "end": 1542, "referenceAllele": "C", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355831.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721106" }, { "coordinates": [ { "allele": "T", "end": 1253, "referenceAllele": "C", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355832.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721107" }, { "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721108" }, { "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721109" }, { "coordinates": [ { "allele": "T", "end": 1128, "referenceAllele": "C", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355835.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721110" }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355836.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721111" }, { "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355837.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721112" }, { "coordinates": [ { "allele": "T", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721113" }, { "@id": "http://reg.genome.network/allele/PA2828298164", "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.2:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Arg209Cys", "hgvsWellDefined": "NP_001355839.1:p.Arg209Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721114" }, { "@id": "http://reg.genome.network/allele/PA2828298420", "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.2:c.427C>T" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Arg143Cys", "hgvsWellDefined": "NP_001355840.1:p.Arg143Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721115" }, { "@id": "http://reg.genome.network/allele/PA2828298725", "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Arg142Cys", "hgvsWellDefined": "NP_001355841.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721116" }, { "@id": "http://reg.genome.network/allele/PA2828299040", "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Arg142Cys", "hgvsWellDefined": "NP_001355842.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721117" }, { "@id": "http://reg.genome.network/allele/PA2828299356", "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Arg142Cys", "hgvsWellDefined": "NP_001355843.1:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721118" }, { "@id": "http://reg.genome.network/allele/PA2828299672", "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "C", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355844.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721119" }, { "@id": "http://reg.genome.network/allele/PA2828299981", "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355845.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721120" }, { "@id": "http://reg.genome.network/allele/PA2828300287", "coordinates": [ { "allele": "T", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Arg128Cys", "hgvsWellDefined": "NP_001355846.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721121" }, { "@id": "http://reg.genome.network/allele/PA2828300611", "coordinates": [ { "allele": "T", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.2:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Arg167Cys", "hgvsWellDefined": "NP_001355847.1:p.Arg167Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721122" }, { "@id": "http://reg.genome.network/allele/PA2828300937", "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.2:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Arg167Cys", "hgvsWellDefined": "NP_001355848.1:p.Arg167Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721123" }, { "@id": "http://reg.genome.network/allele/PA2828301256", "coordinates": [ { "allele": "T", "end": 879, "referenceAllele": "C", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.2:c.457C>T" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Arg153Cys", "hgvsWellDefined": "NP_001355849.1:p.Arg153Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721124" }, { "@id": "http://reg.genome.network/allele/PA2828301524", "coordinates": [ { "allele": "T", "end": 692, "referenceAllele": "C", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.2:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355850.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721125" }, { "@id": "http://reg.genome.network/allele/PA2828301768", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "C", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.2:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355851.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721126" }, { "@id": "http://reg.genome.network/allele/PA2828302035", "coordinates": [ { "allele": "T", "end": 692, "referenceAllele": "C", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.2:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355852.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721127" }, { "@id": "http://reg.genome.network/allele/PA2828302301", "coordinates": [ { "allele": "T", "end": 684, "referenceAllele": "C", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.2:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355853.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721128" }, { "@id": "http://reg.genome.network/allele/PA2828302567", "coordinates": [ { "allele": "T", "end": 645, "referenceAllele": "C", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.2:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355854.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721129" }, { "@id": "http://reg.genome.network/allele/PA2828302833", "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "C", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.2:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355855.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721130" }, { "@id": "http://reg.genome.network/allele/PA916047395", "coordinates": [ { "allele": "T", "end": 747, "referenceAllele": "C", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.2:c.223C>T" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Arg75Cys", "hgvsWellDefined": "NP_001355856.1:p.Arg75Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721131" }, { "@id": "http://reg.genome.network/allele/PA2828303333", "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.2:c.181C>T" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Arg61Cys", "hgvsWellDefined": "NP_001355857.1:p.Arg61Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721132" }, { "coordinates": [ { "allele": "T", "end": 1253, "referenceAllele": "C", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.2:c.-27C>T" ], "proteinEffect": { "hgvs": "NP_001355858.1:n.-27C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721133" }, { "@id": "http://reg.genome.network/allele/PA116223", "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.6:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Arg142Cys", "hgvsWellDefined": "NP_001595.2:p.Arg142Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS727197" }, { "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.2:n.846C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731591" }, { "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.2:n.851C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731592" }, { "@id": "http://reg.genome.network/allele/PA106910", "coordinates": [ { "allele": "T", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.6:c.382C>T" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Arg128Cys", "hgvsWellDefined": "NP_000271.1:p.Arg128Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS781557" } ], "type": "nucleotide" }