{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379956543", "communityStandardTitle": [ "NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=976012[alleleid]", "alleleId": 976012, "preferredName": "NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/988073", "RCV": [ "RCV001269465" ], "variationId": 988073 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31815330C>G?assembly=hg19", "id": "chr11:g.31815330C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31793782C>G?assembly=hg38", "id": "chr11:g.31793782C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1950628459", "rs": 1950628459 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 31793782, "referenceAllele": "C", "start": 31793781 } ], "hgvs": [ "NC_000011.10:g.31793782C>G", "CM000673.2:g.31793782C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 31815330, "referenceAllele": "C", "start": 31815329 } ], "hgvs": [ "NC_000011.9:g.31815330C>G", "CM000673.1:g.31815330C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 31771906, "referenceAllele": "C", "start": 31771905 } ], "hgvs": [ "NC_000011.8:g.31771906C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "C", "end": 29180, "referenceAllele": "G", "start": 29179 } ], "hgvs": [ "NG_008679.1:g.29180G>C", "LRG_720:g.29180G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001164" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1232, "referenceAllele": "G", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.13:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Arg262Ser", "hgvsWellDefined": "ENSP00000241001.8:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS741099" }, { "coordinates": [ { "allele": "C", "end": 1356, "referenceAllele": "G", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379107.7:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000368401.2:p.Arg276Ser", "hgvsWellDefined": "ENSP00000368401.2:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752173" }, { "coordinates": [ { "allele": "C", "end": 1676, "referenceAllele": "G", "start": 1675 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379109.7:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000368403.2:p.Arg262Ser", "hgvsWellDefined": "ENSP00000368403.2:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752174" }, { "coordinates": [ { "allele": "C", "end": 1247, "referenceAllele": "G", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379111.7:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000368406.3:p.Arg262Ser", "hgvsWellDefined": "ENSP00000368406.3:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752175" }, { "coordinates": [ { "allele": "C", "end": 1151, "referenceAllele": "G", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379115.9:c.627G>C" ], "proteinEffect": { "hgvs": "ENSP00000368410.5:p.Arg209Ser", "hgvsWellDefined": "ENSP00000368410.5:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752176" }, { "coordinates": [ { "allele": "C", "end": 1453, "referenceAllele": "G", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379123.10:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000368418.6:p.Arg126Ser", "hgvsWellDefined": "ENSP00000368418.6:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752178" }, { "coordinates": [ { "allele": "C", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379129.7:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000368424.2:p.Arg276Ser", "hgvsWellDefined": "ENSP00000368424.2:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752179" }, { "coordinates": [ { "allele": "C", "end": 1067, "referenceAllele": "G", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379132.8:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000368427.2:p.Arg262Ser", "hgvsWellDefined": "ENSP00000368427.2:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752180" }, { "coordinates": [ { "allele": "C", "end": 1263, "referenceAllele": "G", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000419022.6:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000404100.1:p.Arg276Ser", "hgvsWellDefined": "ENSP00000404100.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS754772" }, { "coordinates": [ { "allele": "C", "end": 1045, "referenceAllele": "G", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000423822.7:c.627G>C" ], "proteinEffect": { "hgvs": "ENSP00000388132.3:p.Arg209Ser", "hgvsWellDefined": "ENSP00000388132.3:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS754997" }, { "coordinates": [ { "allele": "C", "end": 1062, "referenceAllele": "G", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000438681.6:c.627G>C" ], "proteinEffect": { "hgvs": "ENSP00000404356.2:p.Arg209Ser", "hgvsWellDefined": "ENSP00000404356.2:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS755709" }, { "coordinates": [ { "allele": "C", "end": 376, "referenceAllele": "G", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000464174.6:n.376G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS756795" }, { "coordinates": [ { "allele": "C", "end": 3106, "referenceAllele": "G", "start": 3105 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000470027.7:n.3106G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS756986" }, { "coordinates": [ { "allele": "C", "end": 1952, "referenceAllele": "G", "start": 1951 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000471303.6:n.1952G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS757021" }, { "coordinates": [ { "allele": "C", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000474783.2:n.1316G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS757128" }, { "coordinates": [ { "allele": "C", "end": 1104, "referenceAllele": "G", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000481563.6:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000492205.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000492205.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS757378" }, { "coordinates": [ { "allele": "C", "end": 1592, "referenceAllele": "G", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000494377.7:n.1592G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS757766" }, { "coordinates": [ { "allele": "C", "end": 1755, "referenceAllele": "G", "start": 1754 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000524853.6:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000431585.2:p.Arg262Ser", "hgvsWellDefined": "ENSP00000431585.2:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS758876" }, { "coordinates": [ { "allele": "C", "end": 396, "referenceAllele": "G", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000530373.6:n.396G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS759179" }, { "coordinates": [ { "allele": "C", "end": 1493, "referenceAllele": "G", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000531910.6:n.1493G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS759266" }, { "coordinates": [ { "allele": "C", "end": 1250, "referenceAllele": "G", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.7:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Arg276Ser", "hgvsWellDefined": "ENSP00000480026.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS761660" }, { "coordinates": [ { "allele": "C", "end": 1013, "referenceAllele": "G", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638250.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000491365.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000491365.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764429" }, { "coordinates": [ { "allele": "C", "end": 1460, "referenceAllele": "G", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638346.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000491267.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000491267.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764483" }, { "coordinates": [ { "allele": "C", "end": 2361, "referenceAllele": "G", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638629.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000490971.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000490971.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764625" }, { "coordinates": [ { "allele": "C", "end": 1132, "referenceAllele": "G", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638685.1:c.273G>C" ], "proteinEffect": { "hgvs": "ENSP00000492316.1:p.Arg91Ser", "hgvsWellDefined": "ENSP00000492316.1:p.Arg91Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764650" }, { "coordinates": [ { "allele": "C", "end": 720, "referenceAllele": "G", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638696.1:c.720G>C" ], "proteinEffect": { "hgvs": "ENSP00000492756.1:p.Arg240Ser", "hgvsWellDefined": "ENSP00000492756.1:p.Arg240Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764655" }, { "coordinates": [ { "allele": "C", "end": 678, "referenceAllele": "G", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638755.1:c.678G>C" ], "proteinEffect": { "hgvs": "ENSP00000492181.1:p.Arg226Ser", "hgvsWellDefined": "ENSP00000492181.1:p.Arg226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764687" }, { "coordinates": [ { "allele": "C", "end": 2242, "referenceAllele": "G", "start": 2241 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638762.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000491517.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000491517.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764689" }, { "coordinates": [ { "allele": "C", "end": 1094, "referenceAllele": "G", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638802.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000492437.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000492437.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764711" }, { "coordinates": [ { "allele": "C", "end": 793, "referenceAllele": "G", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638853.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000491280.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000491280.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764738" }, { "coordinates": [ { "allele": "C", "end": 1052, "referenceAllele": "G", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638878.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000492081.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000492081.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764753" }, { "coordinates": [ { "allele": "C", "end": 1935, "referenceAllele": "G", "start": 1934 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638913.1:n.1935G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS764765" }, { "coordinates": [ { "allele": "C", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638914.3:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000492315.2:p.Arg276Ser", "hgvsWellDefined": "ENSP00000492315.2:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764766" }, { "coordinates": [ { "allele": "C", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638963.1:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000491948.1:p.Arg262Ser", "hgvsWellDefined": "ENSP00000491948.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764792" }, { "coordinates": [ { "allele": "C", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638965.1:c.183G>C" ], "proteinEffect": { "hgvs": "ENSP00000492769.1:p.Arg61Ser", "hgvsWellDefined": "ENSP00000492769.1:p.Arg61Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764793" }, { "coordinates": [ { "allele": "C", "end": 1138, "referenceAllele": "G", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639006.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000491210.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000491210.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764814" }, { "coordinates": [ { "allele": "C", "end": 1319, "referenceAllele": "G", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639034.2:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000491679.1:p.Arg262Ser", "hgvsWellDefined": "ENSP00000491679.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764827" }, { "coordinates": [ { "allele": "C", "end": 1909, "referenceAllele": "G", "start": 1908 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639054.1:n.1909G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS764840" }, { "coordinates": [ { "allele": "C", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639061.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000491324.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000491324.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764844" }, { "coordinates": [ { "allele": "C", "end": 2197, "referenceAllele": "G", "start": 2196 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639079.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000492129.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000492129.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764855" }, { "coordinates": [ { "allele": "C", "end": 2279, "referenceAllele": "G", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639109.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000491904.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000491904.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764869" }, { "coordinates": [ { "allele": "C", "end": 884, "referenceAllele": "G", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639386.2:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000492658.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000492658.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765000" }, { "coordinates": [ { "allele": "C", "end": 1528, "referenceAllele": "G", "start": 1527 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639394.1:c.*667G>C" ], "proteinEffect": { "hgvs": "ENSP00000492177.1:n.*667G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS765006" }, { "coordinates": [ { "allele": "C", "end": 1235, "referenceAllele": "G", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639409.1:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000492476.1:p.Arg276Ser", "hgvsWellDefined": "ENSP00000492476.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765012" }, { "coordinates": [ { "allele": "C", "end": 934, "referenceAllele": "G", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639548.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000491944.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000491944.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765076" }, { "coordinates": [ { "allele": "C", "end": 1231, "referenceAllele": "G", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639916.1:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000490963.1:p.Arg262Ser", "hgvsWellDefined": "ENSP00000490963.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765241" }, { "coordinates": [ { "allele": "C", "end": 2268, "referenceAllele": "G", "start": 2267 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639943.1:c.627G>C" ], "proteinEffect": { "hgvs": "ENSP00000491229.1:p.Arg209Ser", "hgvsWellDefined": "ENSP00000491229.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765252" }, { "coordinates": [ { "allele": "C", "end": 1662, "referenceAllele": "G", "start": 1661 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639950.1:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000491862.1:p.Arg262Ser", "hgvsWellDefined": "ENSP00000491862.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765255" }, { "coordinates": [ { "allele": "C", "end": 313, "referenceAllele": "G", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640038.1:n.313G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS765302" }, { "coordinates": [ { "allele": "C", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640125.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000492166.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000492166.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765349" }, { "coordinates": [ { "allele": "C", "end": 2065, "referenceAllele": "G", "start": 2064 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640172.1:n.2065G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS765368" }, { "coordinates": [ { "allele": "C", "end": 1063, "referenceAllele": "G", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640242.1:c.789G>C" ], "proteinEffect": { "hgvs": "ENSP00000492409.1:p.Arg263Ser", "hgvsWellDefined": "ENSP00000492409.1:p.Arg263Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765398" }, { "coordinates": [ { "allele": "C", "end": 1004, "referenceAllele": "G", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640287.1:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000492822.1:p.Arg262Ser", "hgvsWellDefined": "ENSP00000492822.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765421" }, { "coordinates": [ { "allele": "C", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640335.1:c.273G>C" ], "proteinEffect": { "hgvs": "ENSP00000492808.1:p.Arg91Ser", "hgvsWellDefined": "ENSP00000492808.1:p.Arg91Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765446" }, { "coordinates": [ { "allele": "C", "end": 1352, "referenceAllele": "G", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640368.2:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000492024.1:p.Arg276Ser", "hgvsWellDefined": "ENSP00000492024.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.828G>C" }, "RefSeq": { "hgvs": "NM_001368894.2:c.828G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Arg276Ser" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Arg276Ser" } } } }, { "coordinates": [ { "allele": "C", "end": 1753, "referenceAllele": "G", "start": 1752 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640431.1:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000491779.1:p.Arg276Ser", "hgvsWellDefined": "ENSP00000491779.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765494" }, { "coordinates": [ { "allele": "C", "end": 1281, "referenceAllele": "G", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640460.1:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000492802.1:p.Arg262Ser", "hgvsWellDefined": "ENSP00000492802.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765507" }, { "coordinates": [ { "allele": "C", "end": 1221, "referenceAllele": "G", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640610.1:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000491295.1:p.Arg262Ser", "hgvsWellDefined": "ENSP00000491295.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765580" }, { "coordinates": [ { "allele": "C", "end": 1046, "referenceAllele": "G", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640613.1:c.627G>C" ], "proteinEffect": { "hgvs": "ENSP00000492587.1:p.Arg209Ser", "hgvsWellDefined": "ENSP00000492587.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765581" }, { "coordinates": [ { "allele": "C", "end": 1120, "referenceAllele": "G", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640684.1:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000491492.1:p.Arg276Ser", "hgvsWellDefined": "ENSP00000491492.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765617" }, { "coordinates": [ { "allele": "C", "end": 1605, "referenceAllele": "G", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640735.1:n.1605G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS765648" }, { "coordinates": [ { "allele": "C", "end": 1326, "referenceAllele": "G", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640766.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000491214.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000491214.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765664" }, { "coordinates": [ { "allele": "C", "end": 1902, "referenceAllele": "G", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640872.1:c.378G>C" ], "proteinEffect": { "hgvs": "ENSP00000491065.1:p.Arg126Ser", "hgvsWellDefined": "ENSP00000491065.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765711" }, { "coordinates": [ { "allele": "C", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640963.1:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000492397.1:p.Arg276Ser", "hgvsWellDefined": "ENSP00000492397.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765751" }, { "coordinates": [ { "allele": "C", "end": 1338, "referenceAllele": "G", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640975.1:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000491872.1:p.Arg276Ser", "hgvsWellDefined": "ENSP00000491872.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765758" }, { "coordinates": [ { "allele": "C", "end": 1319, "referenceAllele": "G", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000643871.1:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000495109.1:p.Arg262Ser", "hgvsWellDefined": "ENSP00000495109.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS767517" }, { "coordinates": [ { "allele": "C", "end": 1127, "referenceAllele": "G", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.12:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Arg262Ser", "hgvsWellDefined": "ENSP00000241001.8:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS249157" }, { "coordinates": [ { "allele": "C", "end": 1356, "referenceAllele": "G", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379107.6:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000368401.2:p.Arg276Ser", "hgvsWellDefined": "ENSP00000368401.2:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272346" }, { "coordinates": [ { "allele": "C", "end": 1676, "referenceAllele": "G", "start": 1675 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379109.6:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000368403.2:p.Arg262Ser", "hgvsWellDefined": "ENSP00000368403.2:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272348" }, { "coordinates": [ { "allele": "C", "end": 1132, "referenceAllele": "G", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379111.6:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000368406.2:p.Arg262Ser", "hgvsWellDefined": "ENSP00000368406.2:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272349" }, { "coordinates": [ { "allele": "C", "end": 1263, "referenceAllele": "G", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379115.8:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000368410.4:p.Arg276Ser", "hgvsWellDefined": "ENSP00000368410.4:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272351" }, { "coordinates": [ { "allele": "C", "end": 1665, "referenceAllele": "G", "start": 1664 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379123.9:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000368418.5:p.Arg262Ser", "hgvsWellDefined": "ENSP00000368418.5:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272355" }, { "coordinates": [ { "allele": "C", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379129.6:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000368424.2:p.Arg276Ser", "hgvsWellDefined": "ENSP00000368424.2:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272359" }, { "coordinates": [ { "allele": "C", "end": 1067, "referenceAllele": "G", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379132.7:c.786G>C" ], "proteinEffect": { "hgvs": "ENSP00000368427.2:p.Arg262Ser", "hgvsWellDefined": "ENSP00000368427.2:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272360" }, { "coordinates": [ { "allele": "C", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000419022.5:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000404100.1:p.Arg276Ser", "hgvsWellDefined": "ENSP00000404100.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS285683" }, { "coordinates": [ { "allele": "C", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000464174.5:n.392G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS308064" }, { "coordinates": [ { "allele": "C", "end": 2361, "referenceAllele": "G", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000470027.6:n.2361G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS312565" }, { "coordinates": [ { "allele": "C", "end": 1979, "referenceAllele": "G", "start": 1978 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000494377.6:n.1979G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS331325" }, { "coordinates": [ { "allele": "C", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000530373.5:n.371G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS355639" }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "G", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000531910.5:n.535G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS356921" }, { "coordinates": [ { "allele": "C", "end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000532916.5:n.116G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS357762" }, { "coordinates": [ { "allele": "C", "end": 5692, "referenceAllele": "G", "start": 5691 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000533333.5:n.5692G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS358121" }, { "coordinates": [ { "allele": "C", "end": 1235, "referenceAllele": "G", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.5:c.828G>C" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Arg276Ser", "hgvsWellDefined": "ENSP00000480026.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS399702" }, { "@id": "http://reg.genome.network/allele/PA2825138720", "coordinates": [ { "allele": "C", "end": 1341, "referenceAllele": "G", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.4:c.786G>C" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Arg262Ser", "hgvsWellDefined": "NP_000271.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006341" }, { "@id": "http://reg.genome.network/allele/PA2825646165", "coordinates": [ { "allele": "C", "end": 1255, "referenceAllele": "G", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.1:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Arg262Ser", "hgvsWellDefined": "NP_001121084.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011650" }, { "@id": "http://reg.genome.network/allele/PA2826475173", "coordinates": [ { "allele": "C", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.1:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Arg276Ser", "hgvsWellDefined": "NP_001245391.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS019896" }, { "@id": "http://reg.genome.network/allele/PA2826475510", "coordinates": [ { "allele": "C", "end": 1235, "referenceAllele": "G", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.1:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Arg276Ser", "hgvsWellDefined": "NP_001245392.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS019897" }, { "@id": "http://reg.genome.network/allele/PA2826475843", "coordinates": [ { "allele": "C", "end": 1243, "referenceAllele": "G", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.1:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Arg262Ser", "hgvsWellDefined": "NP_001245393.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS019898" }, { "@id": "http://reg.genome.network/allele/PA2826476176", "coordinates": [ { "allele": "C", "end": 1229, "referenceAllele": "G", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.1:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Arg262Ser", "hgvsWellDefined": "NP_001245394.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS019899" }, { "@id": "http://reg.genome.network/allele/PA2826940134", "coordinates": [ { "allele": "C", "end": 1338, "referenceAllele": "G", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.1:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Arg276Ser", "hgvsWellDefined": "NP_001297087.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS026395" }, { "@id": "http://reg.genome.network/allele/PA2826940467", "coordinates": [ { "allele": "C", "end": 914, "referenceAllele": "G", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310159.1:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001297088.1:p.Arg262Ser", "hgvsWellDefined": "NP_001297088.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS026396" }, { "@id": "http://reg.genome.network/allele/PA2826940605", "coordinates": [ { "allele": "C", "end": 2552, "referenceAllele": "G", "start": 2551 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001297089.1:p.Arg126Ser", "hgvsWellDefined": "NP_001297089.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS026397" }, { "@id": "http://reg.genome.network/allele/PA2826940784", "coordinates": [ { "allele": "C", "end": 1104, "referenceAllele": "G", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001297090.1:p.Arg126Ser", "hgvsWellDefined": "NP_001297090.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS026398" }, { "@id": "http://reg.genome.network/allele/PA2829332514", "coordinates": [ { "allele": "C", "end": 1285, "referenceAllele": "G", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.5:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Arg276Ser", "hgvsWellDefined": "NP_001595.2:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS026945" }, { "coordinates": [ { "allele": "C", "end": 1299, "referenceAllele": "G", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252954.3:c.828G>C" ], "proteinEffect": { "hgvs": "XP_005253011.1:p.Arg276Ser", "hgvsWellDefined": "XP_005253011.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS060099" }, { "coordinates": [ { "allele": "C", "end": 1281, "referenceAllele": "G", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252955.3:c.786G>C" ], "proteinEffect": { "hgvs": "XP_005253012.1:p.Arg262Ser", "hgvsWellDefined": "XP_005253012.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS060100" }, { "coordinates": [ { "allele": "C", "end": 1676, "referenceAllele": "G", "start": 1675 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252956.3:c.786G>C" ], "proteinEffect": { "hgvs": "XP_005253013.1:p.Arg262Ser", "hgvsWellDefined": "XP_005253013.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS060101" }, { "coordinates": [ { "allele": "C", "end": 1435, "referenceAllele": "G", "start": 1434 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252958.3:c.378G>C" ], "proteinEffect": { "hgvs": "XP_005253015.1:p.Arg126Ser", "hgvsWellDefined": "XP_005253015.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS060102" }, { "coordinates": [ { "allele": "C", "end": 1056, "referenceAllele": "G", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_006718246.2:c.585G>C" ], "proteinEffect": { "hgvs": "XP_006718309.1:p.Arg195Ser", "hgvsWellDefined": "XP_006718309.1:p.Arg195Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS072538" }, { "coordinates": [ { "allele": "C", "end": 1179, "referenceAllele": "G", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520146.1:c.1032G>C" ], "proteinEffect": { "hgvs": "XP_011518448.1:p.Arg344Ser", "hgvsWellDefined": "XP_011518448.1:p.Arg344Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS087315" }, { "coordinates": [ { "allele": "C", "end": 1136, "referenceAllele": "G", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520147.1:c.990G>C" ], "proteinEffect": { "hgvs": "XP_011518449.1:p.Arg330Ser", "hgvsWellDefined": "XP_011518449.1:p.Arg330Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS087316" }, { "coordinates": [ { "allele": "C", "end": 978, "referenceAllele": "G", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520148.1:c.831G>C" ], "proteinEffect": { "hgvs": "XP_011518450.1:p.Arg277Ser", "hgvsWellDefined": "XP_011518450.1:p.Arg277Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS087317" }, { "coordinates": [ { "allele": "C", "end": 2117, "referenceAllele": "G", "start": 2116 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520149.1:c.828G>C" ], "proteinEffect": { "hgvs": "XP_011518451.1:p.Arg276Ser", "hgvsWellDefined": "XP_011518451.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS087318" }, { "coordinates": [ { "allele": "C", "end": 1208, "referenceAllele": "G", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520150.1:c.828G>C" ], "proteinEffect": { "hgvs": "XP_011518452.1:p.Arg276Ser", "hgvsWellDefined": "XP_011518452.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS087319" }, { "coordinates": [ { "allele": "C", "end": 936, "referenceAllele": "G", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520151.1:c.789G>C" ], "proteinEffect": { "hgvs": "XP_011518453.1:p.Arg263Ser", "hgvsWellDefined": "XP_011518453.1:p.Arg263Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS087320" }, { "coordinates": [ { "allele": "C", "end": 1098, "referenceAllele": "G", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520152.1:c.627G>C" ], "proteinEffect": { "hgvs": "XP_011518454.1:p.Arg209Ser", "hgvsWellDefined": "XP_011518454.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS087321" }, { "coordinates": [ { "allele": "C", "end": 1104, "referenceAllele": "G", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520153.1:c.378G>C" ], "proteinEffect": { "hgvs": "XP_011518455.1:p.Arg126Ser", "hgvsWellDefined": "XP_011518455.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS087322" }, { "@id": "http://reg.genome.network/allele/PA2825646165", "coordinates": [ { "allele": "C", "end": 1255, "referenceAllele": "G", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.2:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Arg262Ser", "hgvsWellDefined": "NP_001121084.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676915" }, { "@id": "http://reg.genome.network/allele/PA2826475173", "coordinates": [ { "allele": "C", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.2:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Arg276Ser", "hgvsWellDefined": "NP_001245391.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS680853" }, { "@id": "http://reg.genome.network/allele/PA2826476176", "coordinates": [ { "allele": "C", "end": 1208, "referenceAllele": "G", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.2:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Arg262Ser", "hgvsWellDefined": "NP_001245394.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS680854" }, { "@id": "http://reg.genome.network/allele/PA2826940784", "coordinates": [ { "allele": "C", "end": 926, "referenceAllele": "G", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001297090.1:p.Arg126Ser", "hgvsWellDefined": "NP_001297090.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS684056" }, { "@id": "http://reg.genome.network/allele/PA2828292636", "coordinates": [ { "allele": "C", "end": 1333, "referenceAllele": "G", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.1:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355816.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691449" }, { "@id": "http://reg.genome.network/allele/PA2828292969", "coordinates": [ { "allele": "C", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.1:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355817.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691450" }, { "@id": "http://reg.genome.network/allele/PA2828293302", "coordinates": [ { "allele": "C", "end": 968, "referenceAllele": "G", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.1:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355818.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691451" }, { "@id": "http://reg.genome.network/allele/PA2828293635", "coordinates": [ { "allele": "C", "end": 1251, "referenceAllele": "G", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.1:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355819.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691452" }, { "@id": "http://reg.genome.network/allele/PA2828293968", "coordinates": [ { "allele": "C", "end": 1247, "referenceAllele": "G", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.1:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355820.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691453" }, { "@id": "http://reg.genome.network/allele/PA2828294305", "coordinates": [ { "allele": "C", "end": 1250, "referenceAllele": "G", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.1:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Arg276Ser", "hgvsWellDefined": "NP_001355821.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691454" }, { "@id": "http://reg.genome.network/allele/PA2828294642", "coordinates": [ { "allele": "C", "end": 1324, "referenceAllele": "G", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.1:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Arg276Ser", "hgvsWellDefined": "NP_001355822.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691455" }, { "@id": "http://reg.genome.network/allele/PA2828294979", "coordinates": [ { "allele": "C", "end": 1352, "referenceAllele": "G", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.1:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Arg276Ser", "hgvsWellDefined": "NP_001355823.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691456" }, { "@id": "http://reg.genome.network/allele/PA2828296164", "coordinates": [ { "allele": "C", "end": 1052, "referenceAllele": "G", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355828.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355828.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691461" }, { "@id": "http://reg.genome.network/allele/PA2828296343", "coordinates": [ { "allele": "C", "end": 1094, "referenceAllele": "G", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355829.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355829.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691462" }, { "@id": "http://reg.genome.network/allele/PA2828296522", "coordinates": [ { "allele": "C", "end": 884, "referenceAllele": "G", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355830.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355830.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691463" }, { "@id": "http://reg.genome.network/allele/PA2828296701", "coordinates": [ { "allele": "C", "end": 1946, "referenceAllele": "G", "start": 1945 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355831.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355831.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691464" }, { "@id": "http://reg.genome.network/allele/PA2828296880", "coordinates": [ { "allele": "C", "end": 1657, "referenceAllele": "G", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355832.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355832.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691465" }, { "@id": "http://reg.genome.network/allele/PA2828297059", "coordinates": [ { "allele": "C", "end": 1077, "referenceAllele": "G", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355833.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355833.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691466" }, { "@id": "http://reg.genome.network/allele/PA2828297238", "coordinates": [ { "allele": "C", "end": 1581, "referenceAllele": "G", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355834.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355834.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691467" }, { "@id": "http://reg.genome.network/allele/PA2828297417", "coordinates": [ { "allele": "C", "end": 1532, "referenceAllele": "G", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355835.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355835.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691468" }, { "@id": "http://reg.genome.network/allele/PA2828297596", "coordinates": [ { "allele": "C", "end": 1615, "referenceAllele": "G", "start": 1614 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355836.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355836.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691469" }, { "@id": "http://reg.genome.network/allele/PA2828297775", "coordinates": [ { "allele": "C", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355837.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355837.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691470" }, { "@id": "http://reg.genome.network/allele/PA2828297954", "coordinates": [ { "allele": "C", "end": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355838.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355838.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691471" }, { "@id": "http://reg.genome.network/allele/PA2828298265", "coordinates": [ { "allele": "C", "end": 1453, "referenceAllele": "G", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.1:c.1029G>C" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Arg343Ser", "hgvsWellDefined": "NP_001355839.1:p.Arg343Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691472" }, { "@id": "http://reg.genome.network/allele/PA2828298520", "coordinates": [ { "allele": "C", "end": 1112, "referenceAllele": "G", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.1:c.831G>C" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Arg277Ser", "hgvsWellDefined": "NP_001355840.1:p.Arg277Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691473" }, { "@id": "http://reg.genome.network/allele/PA2828298825", "coordinates": [ { "allele": "C", "end": 1352, "referenceAllele": "G", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.1:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Arg276Ser", "hgvsWellDefined": "NP_001355841.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691474" }, { "@id": "http://reg.genome.network/allele/PA2828299141", "coordinates": [ { "allele": "C", "end": 1250, "referenceAllele": "G", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.1:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Arg276Ser", "hgvsWellDefined": "NP_001355842.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691475" }, { "@id": "http://reg.genome.network/allele/PA2828299457", "coordinates": [ { "allele": "C", "end": 1254, "referenceAllele": "G", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.1:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Arg276Ser", "hgvsWellDefined": "NP_001355843.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691476" }, { "@id": "http://reg.genome.network/allele/PA2828299769", "coordinates": [ { "allele": "C", "end": 1333, "referenceAllele": "G", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.1:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355844.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691477" }, { "@id": "http://reg.genome.network/allele/PA2828300081", "coordinates": [ { "allele": "C", "end": 1208, "referenceAllele": "G", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.1:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355845.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691478" }, { "@id": "http://reg.genome.network/allele/PA2828300384", "coordinates": [ { "allele": "C", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.1:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355846.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691479" }, { "@id": "http://reg.genome.network/allele/PA2828300710", "coordinates": [ { "allele": "C", "end": 1325, "referenceAllele": "G", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.1:c.903G>C" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Arg301Ser", "hgvsWellDefined": "NP_001355847.1:p.Arg301Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691480" }, { "@id": "http://reg.genome.network/allele/PA2828301034", "coordinates": [ { "allele": "C", "end": 1372, "referenceAllele": "G", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.1:c.903G>C" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Arg301Ser", "hgvsWellDefined": "NP_001355848.1:p.Arg301Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691481" }, { "@id": "http://reg.genome.network/allele/PA2828301355", "coordinates": [ { "allele": "C", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.1:c.861G>C" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Arg287Ser", "hgvsWellDefined": "NP_001355849.1:p.Arg287Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691482" }, { "@id": "http://reg.genome.network/allele/PA2828301621", "coordinates": [ { "allele": "C", "end": 1096, "referenceAllele": "G", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.1:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355850.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691483" }, { "@id": "http://reg.genome.network/allele/PA2828301866", "coordinates": [ { "allele": "C", "end": 1153, "referenceAllele": "G", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.1:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355851.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691484" }, { "@id": "http://reg.genome.network/allele/PA2828302132", "coordinates": [ { "allele": "C", "end": 1096, "referenceAllele": "G", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.1:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355852.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691485" }, { "@id": "http://reg.genome.network/allele/PA2828302398", "coordinates": [ { "allele": "C", "end": 1088, "referenceAllele": "G", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.1:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355853.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691486" }, { "@id": "http://reg.genome.network/allele/PA2828302664", "coordinates": [ { "allele": "C", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.1:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355854.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691487" }, { "@id": "http://reg.genome.network/allele/PA2828302930", "coordinates": [ { "allele": "C", "end": 1053, "referenceAllele": "G", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.1:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355855.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691488" }, { "@id": "http://reg.genome.network/allele/PA2828303172", "coordinates": [ { "allele": "C", "end": 1151, "referenceAllele": "G", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.1:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355856.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691489" }, { "@id": "http://reg.genome.network/allele/PA2828303425", "coordinates": [ { "allele": "C", "end": 1007, "referenceAllele": "G", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.1:c.585G>C" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Arg195Ser", "hgvsWellDefined": "NP_001355857.1:p.Arg195Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691490" }, { "@id": "http://reg.genome.network/allele/PA2828303569", "coordinates": [ { "allele": "C", "end": 1657, "referenceAllele": "G", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.1:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355858.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355858.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691491" }, { "@id": "http://reg.genome.network/allele/PA1139742222", "coordinates": [ { "allele": "C", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368930.1:c.183G>C" ], "proteinEffect": { "hgvs": "NP_001355859.1:p.Arg61Ser", "hgvsWellDefined": "NP_001355859.1:p.Arg61Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691492" }, { "coordinates": [ { "allele": "C", "end": 1167, "referenceAllele": "G", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.1:n.1167G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS705223" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.1:n.1172G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS705224" }, { "@id": "http://reg.genome.network/allele/PA2825138720", "coordinates": [ { "allele": "C", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.5:c.786G>C" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Arg262Ser", "hgvsWellDefined": "NP_000271.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS710820" }, { "@id": "http://reg.genome.network/allele/PA2825646165", "coordinates": [ { "allele": "C", "end": 1255, "referenceAllele": "G", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.3:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Arg262Ser", "hgvsWellDefined": "NP_001121084.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS712221" }, { "@id": "http://reg.genome.network/allele/PA2826475173", "coordinates": [ { "allele": "C", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.3:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Arg276Ser", "hgvsWellDefined": "NP_001245391.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS714982" }, { "@id": "http://reg.genome.network/allele/PA2826475510", "coordinates": [ { "allele": "C", "end": 1255, "referenceAllele": "G", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.2:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Arg276Ser", "hgvsWellDefined": "NP_001245392.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS714983" }, { "@id": "http://reg.genome.network/allele/PA2826475843", "coordinates": [ { "allele": "C", "end": 1212, "referenceAllele": "G", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.2:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Arg262Ser", "hgvsWellDefined": "NP_001245393.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS714984" }, { "@id": "http://reg.genome.network/allele/PA2826476176", "coordinates": [ { "allele": "C", "end": 1208, "referenceAllele": "G", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.3:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Arg262Ser", "hgvsWellDefined": "NP_001245394.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS714985" }, { "@id": "http://reg.genome.network/allele/PA2826940134", "coordinates": [ { "allele": "C", "end": 1199, "referenceAllele": "G", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.2:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Arg276Ser", "hgvsWellDefined": "NP_001297087.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS717309" }, { "@id": "http://reg.genome.network/allele/PA2826940605", "coordinates": [ { "allele": "C", "end": 2374, "referenceAllele": "G", "start": 2373 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001297089.1:p.Arg126Ser", "hgvsWellDefined": "NP_001297089.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS717310" }, { "@id": "http://reg.genome.network/allele/PA2826940784", "coordinates": [ { "allele": "C", "end": 926, "referenceAllele": "G", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.3:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001297090.1:p.Arg126Ser", "hgvsWellDefined": "NP_001297090.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS717311" }, { "@id": "http://reg.genome.network/allele/PA2828292636", "coordinates": [ { "allele": "C", "end": 1333, "referenceAllele": "G", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.2:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355816.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721095" }, { "@id": "http://reg.genome.network/allele/PA2828292969", "coordinates": [ { "allele": "C", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.2:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355817.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721096" }, { "@id": "http://reg.genome.network/allele/PA2828293302", "coordinates": [ { "allele": "C", "end": 968, "referenceAllele": "G", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.2:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355818.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721097" }, { "@id": "http://reg.genome.network/allele/PA2828293635", "coordinates": [ { "allele": "C", "end": 1251, "referenceAllele": "G", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.2:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355819.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721098" }, { "@id": "http://reg.genome.network/allele/PA2828293968", "coordinates": [ { "allele": "C", "end": 1247, "referenceAllele": "G", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.2:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355820.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721099" }, { "@id": "http://reg.genome.network/allele/PA2828294305", "coordinates": [ { "allele": "C", "end": 1250, "referenceAllele": "G", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.2:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Arg276Ser", "hgvsWellDefined": "NP_001355821.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721100" }, { "@id": "http://reg.genome.network/allele/PA2828294642", "coordinates": [ { "allele": "C", "end": 1324, "referenceAllele": "G", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.2:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Arg276Ser", "hgvsWellDefined": "NP_001355822.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721101" }, { "@id": "http://reg.genome.network/allele/PA2828294979", "coordinates": [ { "allele": "C", "end": 1352, "referenceAllele": "G", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.2:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Arg276Ser", "hgvsWellDefined": "NP_001355823.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721102", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.828G>C" }, "RefSeq": { "hgvs": "NM_001368894.2:c.828G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Arg276Ser" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Arg276Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2828296164", "coordinates": [ { "allele": "C", "end": 1052, "referenceAllele": "G", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355828.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355828.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721103" }, { "@id": "http://reg.genome.network/allele/PA2828296343", "coordinates": [ { "allele": "C", "end": 1094, "referenceAllele": "G", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355829.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355829.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721104" }, { "@id": "http://reg.genome.network/allele/PA2828296522", "coordinates": [ { "allele": "C", "end": 884, "referenceAllele": "G", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355830.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355830.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721105" }, { "@id": "http://reg.genome.network/allele/PA2828296701", "coordinates": [ { "allele": "C", "end": 1946, "referenceAllele": "G", "start": 1945 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355831.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355831.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721106" }, { "@id": "http://reg.genome.network/allele/PA2828296880", "coordinates": [ { "allele": "C", "end": 1657, "referenceAllele": "G", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355832.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355832.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721107" }, { "@id": "http://reg.genome.network/allele/PA2828297059", "coordinates": [ { "allele": "C", "end": 1077, "referenceAllele": "G", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355833.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355833.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721108" }, { "@id": "http://reg.genome.network/allele/PA2828297238", "coordinates": [ { "allele": "C", "end": 1581, "referenceAllele": "G", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355834.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355834.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721109" }, { "@id": "http://reg.genome.network/allele/PA2828297417", "coordinates": [ { "allele": "C", "end": 1532, "referenceAllele": "G", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355835.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355835.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721110" }, { "@id": "http://reg.genome.network/allele/PA2828297596", "coordinates": [ { "allele": "C", "end": 1615, "referenceAllele": "G", "start": 1614 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355836.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355836.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721111" }, { "@id": "http://reg.genome.network/allele/PA2828297775", "coordinates": [ { "allele": "C", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355837.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355837.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721112" }, { "@id": "http://reg.genome.network/allele/PA2828297954", "coordinates": [ { "allele": "C", "end": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355838.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355838.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721113" }, { "@id": "http://reg.genome.network/allele/PA2828298265", "coordinates": [ { "allele": "C", "end": 1453, "referenceAllele": "G", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.2:c.1029G>C" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Arg343Ser", "hgvsWellDefined": "NP_001355839.1:p.Arg343Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721114" }, { "@id": "http://reg.genome.network/allele/PA2828298520", "coordinates": [ { "allele": "C", "end": 1112, "referenceAllele": "G", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.2:c.831G>C" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Arg277Ser", "hgvsWellDefined": "NP_001355840.1:p.Arg277Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721115" }, { "@id": "http://reg.genome.network/allele/PA2828298825", "coordinates": [ { "allele": "C", "end": 1352, "referenceAllele": "G", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.2:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Arg276Ser", "hgvsWellDefined": "NP_001355841.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721116" }, { "@id": "http://reg.genome.network/allele/PA2828299141", "coordinates": [ { "allele": "C", "end": 1250, "referenceAllele": "G", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.2:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Arg276Ser", "hgvsWellDefined": "NP_001355842.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721117" }, { "@id": "http://reg.genome.network/allele/PA2828299457", "coordinates": [ { "allele": "C", "end": 1254, "referenceAllele": "G", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.2:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Arg276Ser", "hgvsWellDefined": "NP_001355843.1:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721118" }, { "@id": "http://reg.genome.network/allele/PA2828299769", "coordinates": [ { "allele": "C", "end": 1333, "referenceAllele": "G", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.2:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355844.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721119" }, { "@id": "http://reg.genome.network/allele/PA2828300081", "coordinates": [ { "allele": "C", "end": 1208, "referenceAllele": "G", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.2:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355845.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721120" }, { "@id": "http://reg.genome.network/allele/PA2828300384", "coordinates": [ { "allele": "C", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.2:c.786G>C" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Arg262Ser", "hgvsWellDefined": "NP_001355846.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721121" }, { "@id": "http://reg.genome.network/allele/PA2828300710", "coordinates": [ { "allele": "C", "end": 1325, "referenceAllele": "G", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.2:c.903G>C" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Arg301Ser", "hgvsWellDefined": "NP_001355847.1:p.Arg301Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721122" }, { "@id": "http://reg.genome.network/allele/PA2828301034", "coordinates": [ { "allele": "C", "end": 1372, "referenceAllele": "G", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.2:c.903G>C" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Arg301Ser", "hgvsWellDefined": "NP_001355848.1:p.Arg301Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721123" }, { "@id": "http://reg.genome.network/allele/PA2828301355", "coordinates": [ { "allele": "C", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.2:c.861G>C" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Arg287Ser", "hgvsWellDefined": "NP_001355849.1:p.Arg287Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721124" }, { "@id": "http://reg.genome.network/allele/PA2828301621", "coordinates": [ { "allele": "C", "end": 1096, "referenceAllele": "G", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.2:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355850.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721125" }, { "@id": "http://reg.genome.network/allele/PA2828301866", "coordinates": [ { "allele": "C", "end": 1153, "referenceAllele": "G", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.2:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355851.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721126" }, { "@id": "http://reg.genome.network/allele/PA2828302132", "coordinates": [ { "allele": "C", "end": 1096, "referenceAllele": "G", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.2:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355852.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721127" }, { "@id": "http://reg.genome.network/allele/PA2828302398", "coordinates": [ { "allele": "C", "end": 1088, "referenceAllele": "G", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.2:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355853.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721128" }, { "@id": "http://reg.genome.network/allele/PA2828302664", "coordinates": [ { "allele": "C", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.2:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355854.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721129" }, { "@id": "http://reg.genome.network/allele/PA2828302930", "coordinates": [ { "allele": "C", "end": 1053, "referenceAllele": "G", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.2:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355855.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721130" }, { "@id": "http://reg.genome.network/allele/PA2828303172", "coordinates": [ { "allele": "C", "end": 1151, "referenceAllele": "G", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.2:c.627G>C" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Arg209Ser", "hgvsWellDefined": "NP_001355856.1:p.Arg209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721131" }, { "@id": "http://reg.genome.network/allele/PA2828303425", "coordinates": [ { "allele": "C", "end": 1007, "referenceAllele": "G", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.2:c.585G>C" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Arg195Ser", "hgvsWellDefined": "NP_001355857.1:p.Arg195Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721132" }, { "@id": "http://reg.genome.network/allele/PA2828303569", "coordinates": [ { "allele": "C", "end": 1657, "referenceAllele": "G", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.2:c.378G>C" ], "proteinEffect": { "hgvs": "NP_001355858.1:p.Arg126Ser", "hgvsWellDefined": "NP_001355858.1:p.Arg126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721133" }, { "@id": "http://reg.genome.network/allele/PA1139742222", "coordinates": [ { "allele": "C", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368930.2:c.183G>C" ], "proteinEffect": { "hgvs": "NP_001355859.1:p.Arg61Ser", "hgvsWellDefined": "NP_001355859.1:p.Arg61Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721134" }, { "@id": "http://reg.genome.network/allele/PA2829332514", "coordinates": [ { "allele": "C", "end": 1254, "referenceAllele": "G", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.6:c.828G>C" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Arg276Ser", "hgvsWellDefined": "NP_001595.2:p.Arg276Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS727197" }, { "coordinates": [ { "allele": "C", "end": 1167, "referenceAllele": "G", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.2:n.1167G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731591" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.2:n.1172G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731592" }, { "@id": "http://reg.genome.network/allele/PA2825138720", "coordinates": [ { "allele": "C", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.6:c.786G>C" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Arg262Ser", "hgvsWellDefined": "NP_000271.1:p.Arg262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS781557" } ], "type": "nucleotide" }