{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379956736", "communityStandardTitle": [ "NM_001368894.2(PAX6):c.745C>A (p.Pro249Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2739559[alleleid]", "alleleId": 2739559, "preferredName": "NM_001368894.2(PAX6):c.745C>A (p.Pro249Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2574626", "RCV": [ "RCV003491359" ], "variationId": 2574626 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31815642G>T?assembly=hg19", "id": "chr11:g.31815642G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31794094G>T?assembly=hg38", "id": "chr11:g.31794094G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2495176679", "rs": 2495176679 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-31794094-G-T?dataset=gnomad_r4", "id": "11-31794094-G-T", "variant": "11:31794094 G / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 31794094, "referenceAllele": "G", "start": 31794093 } ], "hgvs": [ "NC_000011.10:g.31794094G>T", "CM000673.2:g.31794094G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 31815642, "referenceAllele": "G", "start": 31815641 } ], "hgvs": [ "NC_000011.9:g.31815642G>T", "CM000673.1:g.31815642G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 31772218, "referenceAllele": "G", "start": 31772217 } ], "hgvs": [ "NC_000011.8:g.31772218G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 28868, "referenceAllele": "C", "start": 28867 } ], "hgvs": [ "NG_008679.1:g.28868C>A", "LRG_720:g.28868C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001164" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.13:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Pro235Thr", "hgvsWellDefined": "ENSP00000241001.8:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS741099" }, { "coordinates": [ { "allele": "A", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379107.7:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000368401.2:p.Pro249Thr", "hgvsWellDefined": "ENSP00000368401.2:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS752173" }, { "coordinates": [ { "allele": "A", "end": 1593, "referenceAllele": "C", "start": 1592 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379109.7:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000368403.2:p.Pro235Thr", "hgvsWellDefined": "ENSP00000368403.2:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS752174" }, { "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379111.7:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000368406.3:p.Pro235Thr", "hgvsWellDefined": "ENSP00000368406.3:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS752175" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379115.9:c.544C>A" ], "proteinEffect": { "hgvs": "ENSP00000368410.5:p.Pro182Thr", "hgvsWellDefined": "ENSP00000368410.5:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS752176" }, { "coordinates": [ { "allele": "A", "end": 1370, "referenceAllele": "C", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379123.10:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000368418.6:p.Pro99Thr", "hgvsWellDefined": "ENSP00000368418.6:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS752178" }, { "coordinates": [ { "allele": "A", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379129.7:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000368424.2:p.Pro249Thr", "hgvsWellDefined": "ENSP00000368424.2:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS752179" }, { "coordinates": [ { "allele": "A", "end": 984, "referenceAllele": "C", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379132.8:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000368427.2:p.Pro235Thr", "hgvsWellDefined": "ENSP00000368427.2:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS752180" }, { "coordinates": [ { "allele": "A", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000419022.6:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000404100.1:p.Pro249Thr", "hgvsWellDefined": "ENSP00000404100.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS754772" }, { "coordinates": [ { "allele": "A", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000423822.7:c.544C>A" ], "proteinEffect": { "hgvs": "ENSP00000388132.3:p.Pro182Thr", "hgvsWellDefined": "ENSP00000388132.3:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS754997" }, { "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "C", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000438681.6:c.544C>A" ], "proteinEffect": { "hgvs": "ENSP00000404356.2:p.Pro182Thr", "hgvsWellDefined": "ENSP00000404356.2:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS755709" }, { "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000464174.6:n.293C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756795" }, { "coordinates": [ { "allele": "A", "end": 3023, "referenceAllele": "C", "start": 3022 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000470027.7:n.3023C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756986" }, { "coordinates": [ { "allele": "A", "end": 1640, "referenceAllele": "C", "start": 1639 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000471303.6:n.1640C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757021" }, { "coordinates": [ { "allele": "A", "end": 1233, "referenceAllele": "C", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000474783.2:n.1233C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757128" }, { "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "C", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000481563.6:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000492205.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000492205.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS757378" }, { "coordinates": [ { "allele": "A", "end": 1509, "referenceAllele": "C", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000494377.7:n.1509C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757766" }, { "coordinates": [ { "allele": "A", "end": 1672, "referenceAllele": "C", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000524853.6:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000431585.2:p.Pro235Thr", "hgvsWellDefined": "ENSP00000431585.2:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS758876" }, { "coordinates": [ { "allele": "A", "end": 313, "referenceAllele": "C", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000530373.6:n.313C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS759179" }, { "coordinates": [ { "allele": "A", "end": 1410, "referenceAllele": "C", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000531910.6:n.1410C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS759266" }, { "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "C", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.7:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Pro249Thr", "hgvsWellDefined": "ENSP00000480026.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS761660" }, { "coordinates": [ { "allele": "A", "end": 930, "referenceAllele": "C", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638250.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000491365.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000491365.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764429" }, { "coordinates": [ { "allele": "A", "end": 1377, "referenceAllele": "C", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638346.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000491267.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000491267.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764483" }, { "coordinates": [ { "allele": "A", "end": 2278, "referenceAllele": "C", "start": 2277 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638629.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000490971.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000490971.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764625" }, { "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638685.1:c.190C>A" ], "proteinEffect": { "hgvs": "ENSP00000492316.1:p.Pro64Thr", "hgvsWellDefined": "ENSP00000492316.1:p.Pro64Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764650" }, { "coordinates": [ { "allele": "A", "end": 637, "referenceAllele": "C", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638696.1:c.637C>A" ], "proteinEffect": { "hgvs": "ENSP00000492756.1:p.Pro213Thr", "hgvsWellDefined": "ENSP00000492756.1:p.Pro213Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764655" }, { "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "C", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638755.1:c.595C>A" ], "proteinEffect": { "hgvs": "ENSP00000492181.1:p.Pro199Thr", "hgvsWellDefined": "ENSP00000492181.1:p.Pro199Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764687" }, { "coordinates": [ { "allele": "A", "end": 2159, "referenceAllele": "C", "start": 2158 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638762.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000491517.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000491517.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764689" }, { "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638802.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000492437.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000492437.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764711" }, { "coordinates": [ { "allele": "A", "end": 710, "referenceAllele": "C", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638853.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000491280.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000491280.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764738" }, { "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638878.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000492081.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000492081.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764753" }, { "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638913.1:n.1852C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764765" }, { "coordinates": [ { "allele": "A", "end": 1214, "referenceAllele": "C", "start": 1213 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638914.3:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000492315.2:p.Pro249Thr", "hgvsWellDefined": "ENSP00000492315.2:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764766" }, { "coordinates": [ { "allele": "A", "end": 748, "referenceAllele": "C", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638963.1:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000491948.1:p.Pro235Thr", "hgvsWellDefined": "ENSP00000491948.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764792" }, { "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "C", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638965.1:c.100C>A" ], "proteinEffect": { "hgvs": "ENSP00000492769.1:p.Pro34Thr", "hgvsWellDefined": "ENSP00000492769.1:p.Pro34Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764793" }, { "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639006.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000491210.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000491210.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764814" }, { "coordinates": [ { "allele": "A", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639034.2:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000491679.1:p.Pro235Thr", "hgvsWellDefined": "ENSP00000491679.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764827" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639054.1:n.1826C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764840" }, { "coordinates": [ { "allele": "A", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639061.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000491324.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000491324.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764844" }, { "coordinates": [ { "allele": "A", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639079.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000492129.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000492129.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764855" }, { "coordinates": [ { "allele": "A", "end": 2196, "referenceAllele": "C", "start": 2195 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639109.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000491904.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000491904.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764869" }, { "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "C", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639386.2:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000492658.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000492658.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765000" }, { "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "C", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639394.1:c.*584C>A" ], "proteinEffect": { "hgvs": "ENSP00000492177.1:n.*584C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS765006" }, { "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639409.1:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000492476.1:p.Pro249Thr", "hgvsWellDefined": "ENSP00000492476.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765012" }, { "coordinates": [ { "allele": "A", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639548.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000491944.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000491944.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765076" }, { "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639916.1:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000490963.1:p.Pro235Thr", "hgvsWellDefined": "ENSP00000490963.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765241" }, { "coordinates": [ { "allele": "A", "end": 2185, "referenceAllele": "C", "start": 2184 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639943.1:c.544C>A" ], "proteinEffect": { "hgvs": "ENSP00000491229.1:p.Pro182Thr", "hgvsWellDefined": "ENSP00000491229.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765252" }, { "coordinates": [ { "allele": "A", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639950.1:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000491862.1:p.Pro235Thr", "hgvsWellDefined": "ENSP00000491862.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765255" }, { "coordinates": [ { "allele": "A", "end": 230, "referenceAllele": "C", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640038.1:n.230C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS765302" }, { "coordinates": [ { "allele": "A", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640125.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000492166.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000492166.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765349" }, { "coordinates": [ { "allele": "A", "end": 1982, "referenceAllele": "C", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640172.1:n.1982C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS765368" }, { "coordinates": [ { "allele": "A", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640242.1:c.706C>A" ], "proteinEffect": { "hgvs": "ENSP00000492409.1:p.Pro236Thr", "hgvsWellDefined": "ENSP00000492409.1:p.Pro236Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765398" }, { "coordinates": [ { "allele": "A", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640287.1:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000492822.1:p.Pro235Thr", "hgvsWellDefined": "ENSP00000492822.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765421" }, { "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640335.1:c.190C>A" ], "proteinEffect": { "hgvs": "ENSP00000492808.1:p.Pro64Thr", "hgvsWellDefined": "ENSP00000492808.1:p.Pro64Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765446" }, { "coordinates": [ { "allele": "A", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640368.2:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000492024.1:p.Pro249Thr", "hgvsWellDefined": "ENSP00000492024.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.745C>A" }, "RefSeq": { "hgvs": "NM_001368894.2:c.745C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Pro249Thr" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Pro249Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "C", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640431.1:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000491779.1:p.Pro249Thr", "hgvsWellDefined": "ENSP00000491779.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765494" }, { "coordinates": [ { "allele": "A", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640460.1:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000492802.1:p.Pro235Thr", "hgvsWellDefined": "ENSP00000492802.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765507" }, { "coordinates": [ { "allele": "A", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640610.1:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000491295.1:p.Pro235Thr", "hgvsWellDefined": "ENSP00000491295.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765580" }, { "coordinates": [ { "allele": "A", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640613.1:c.544C>A" ], "proteinEffect": { "hgvs": "ENSP00000492587.1:p.Pro182Thr", "hgvsWellDefined": "ENSP00000492587.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765581" }, { "coordinates": [ { "allele": "A", "end": 1037, "referenceAllele": "C", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640684.1:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000491492.1:p.Pro249Thr", "hgvsWellDefined": "ENSP00000491492.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765617" }, { "coordinates": [ { "allele": "A", "end": 1293, "referenceAllele": "C", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640735.1:n.1293C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS765648" }, { "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640766.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000491214.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000491214.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765664" }, { "coordinates": [ { "allele": "A", "end": 1819, "referenceAllele": "C", "start": 1818 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640872.1:c.295C>A" ], "proteinEffect": { "hgvs": "ENSP00000491065.1:p.Pro99Thr", "hgvsWellDefined": "ENSP00000491065.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765711" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640963.1:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000492397.1:p.Pro249Thr", "hgvsWellDefined": "ENSP00000492397.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765751" }, { "coordinates": [ { "allele": "A", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640975.1:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000491872.1:p.Pro249Thr", "hgvsWellDefined": "ENSP00000491872.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765758" }, { "coordinates": [ { "allele": "A", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000643871.1:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000495109.1:p.Pro235Thr", "hgvsWellDefined": "ENSP00000495109.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767517" }, { "coordinates": [ { "allele": "A", "end": 1044, "referenceAllele": "C", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.12:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Pro235Thr", "hgvsWellDefined": "ENSP00000241001.8:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS249157" }, { "coordinates": [ { "allele": "A", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379107.6:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000368401.2:p.Pro249Thr", "hgvsWellDefined": "ENSP00000368401.2:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS272346" }, { "coordinates": [ { "allele": "A", "end": 1593, "referenceAllele": "C", "start": 1592 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379109.6:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000368403.2:p.Pro235Thr", "hgvsWellDefined": "ENSP00000368403.2:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS272348" }, { "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379111.6:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000368406.2:p.Pro235Thr", "hgvsWellDefined": "ENSP00000368406.2:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS272349" }, { "coordinates": [ { "allele": "A", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379115.8:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000368410.4:p.Pro249Thr", "hgvsWellDefined": "ENSP00000368410.4:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS272351" }, { "coordinates": [ { "allele": "A", "end": 1582, "referenceAllele": "C", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379123.9:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000368418.5:p.Pro235Thr", "hgvsWellDefined": "ENSP00000368418.5:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS272355" }, { "coordinates": [ { "allele": "A", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379129.6:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000368424.2:p.Pro249Thr", "hgvsWellDefined": "ENSP00000368424.2:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS272359" }, { "coordinates": [ { "allele": "A", "end": 984, "referenceAllele": "C", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379132.7:c.703C>A" ], "proteinEffect": { "hgvs": "ENSP00000368427.2:p.Pro235Thr", "hgvsWellDefined": "ENSP00000368427.2:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS272360" }, { "coordinates": [ { "allele": "A", "end": 1214, "referenceAllele": "C", "start": 1213 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000419022.5:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000404100.1:p.Pro249Thr", "hgvsWellDefined": "ENSP00000404100.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS285683" }, { "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "C", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000464174.5:n.309C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS308064" }, { "coordinates": [ { "allele": "A", "end": 2278, "referenceAllele": "C", "start": 2277 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000470027.6:n.2278C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS312565" }, { "coordinates": [ { "allele": "A", "end": 1896, "referenceAllele": "C", "start": 1895 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000494377.6:n.1896C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS331325" }, { "coordinates": [ { "allele": "A", "end": 288, "referenceAllele": "C", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000530373.5:n.288C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS355639" }, { "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "C", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000531910.5:n.452C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS356921" }, { "coordinates": [ { "allele": "A", "end": 33, "referenceAllele": "C", "start": 32 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000532916.5:n.33C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS357762" }, { "coordinates": [ { "allele": "A", "end": 5609, "referenceAllele": "C", "start": 5608 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000533333.5:n.5609C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS358121" }, { "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.5:c.745C>A" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Pro249Thr", "hgvsWellDefined": "ENSP00000480026.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS399702" }, { "@id": "http://reg.genome.network/allele/PA2825138707", "coordinates": [ { "allele": "A", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.4:c.703C>A" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Pro235Thr", "hgvsWellDefined": "NP_000271.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006341" }, { "@id": "http://reg.genome.network/allele/PA2825646147", "coordinates": [ { "allele": "A", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.1:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Pro235Thr", "hgvsWellDefined": "NP_001121084.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011650" }, { "@id": "http://reg.genome.network/allele/PA2826475155", "coordinates": [ { "allele": "A", "end": 1214, "referenceAllele": "C", "start": 1213 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.1:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Pro249Thr", "hgvsWellDefined": "NP_001245391.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS019896" }, { "@id": "http://reg.genome.network/allele/PA2826475492", "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.1:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Pro249Thr", "hgvsWellDefined": "NP_001245392.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS019897" }, { "@id": "http://reg.genome.network/allele/PA2826475825", "coordinates": [ { "allele": "A", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.1:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Pro235Thr", "hgvsWellDefined": "NP_001245393.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS019898" }, { "@id": "http://reg.genome.network/allele/PA2826476158", "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "C", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.1:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Pro235Thr", "hgvsWellDefined": "NP_001245394.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS019899" }, { "@id": "http://reg.genome.network/allele/PA2826940116", "coordinates": [ { "allele": "A", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.1:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Pro249Thr", "hgvsWellDefined": "NP_001297087.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS026395" }, { "@id": "http://reg.genome.network/allele/PA2826940449", "coordinates": [ { "allele": "A", "end": 831, "referenceAllele": "C", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310159.1:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001297088.1:p.Pro235Thr", "hgvsWellDefined": "NP_001297088.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS026396" }, { "@id": "http://reg.genome.network/allele/PA2826940587", "coordinates": [ { "allele": "A", "end": 2469, "referenceAllele": "C", "start": 2468 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001297089.1:p.Pro99Thr", "hgvsWellDefined": "NP_001297089.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS026397" }, { "@id": "http://reg.genome.network/allele/PA2826940766", "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "C", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001297090.1:p.Pro99Thr", "hgvsWellDefined": "NP_001297090.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS026398" }, { "@id": "http://reg.genome.network/allele/PA2829332494", "coordinates": [ { "allele": "A", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.5:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Pro249Thr", "hgvsWellDefined": "NP_001595.2:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS026945" }, { "coordinates": [ { "allele": "A", "end": 1216, "referenceAllele": "C", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252954.3:c.745C>A" ], "proteinEffect": { "hgvs": "XP_005253011.1:p.Pro249Thr", "hgvsWellDefined": "XP_005253011.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS060099" }, { "coordinates": [ { "allele": "A", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252955.3:c.703C>A" ], "proteinEffect": { "hgvs": "XP_005253012.1:p.Pro235Thr", "hgvsWellDefined": "XP_005253012.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS060100" }, { "coordinates": [ { "allele": "A", "end": 1593, "referenceAllele": "C", "start": 1592 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252956.3:c.703C>A" ], "proteinEffect": { "hgvs": "XP_005253013.1:p.Pro235Thr", "hgvsWellDefined": "XP_005253013.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS060101" }, { "coordinates": [ { "allele": "A", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252958.3:c.295C>A" ], "proteinEffect": { "hgvs": "XP_005253015.1:p.Pro99Thr", "hgvsWellDefined": "XP_005253015.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS060102" }, { "coordinates": [ { "allele": "A", "end": 973, "referenceAllele": "C", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_006718246.2:c.502C>A" ], "proteinEffect": { "hgvs": "XP_006718309.1:p.Pro168Thr", "hgvsWellDefined": "XP_006718309.1:p.Pro168Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS072538" }, { "coordinates": [ { "allele": "A", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520146.1:c.949C>A" ], "proteinEffect": { "hgvs": "XP_011518448.1:p.Pro317Thr", "hgvsWellDefined": "XP_011518448.1:p.Pro317Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS087315" }, { "coordinates": [ { "allele": "A", "end": 1053, "referenceAllele": "C", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520147.1:c.907C>A" ], "proteinEffect": { "hgvs": "XP_011518449.1:p.Pro303Thr", "hgvsWellDefined": "XP_011518449.1:p.Pro303Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS087316" }, { "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520148.1:c.748C>A" ], "proteinEffect": { "hgvs": "XP_011518450.1:p.Pro250Thr", "hgvsWellDefined": "XP_011518450.1:p.Pro250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS087317" }, { "coordinates": [ { "allele": "A", "end": 2034, "referenceAllele": "C", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520149.1:c.745C>A" ], "proteinEffect": { "hgvs": "XP_011518451.1:p.Pro249Thr", "hgvsWellDefined": "XP_011518451.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS087318" }, { "coordinates": [ { "allele": "A", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520150.1:c.745C>A" ], "proteinEffect": { "hgvs": "XP_011518452.1:p.Pro249Thr", "hgvsWellDefined": "XP_011518452.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS087319" }, { "coordinates": [ { "allele": "A", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520151.1:c.706C>A" ], "proteinEffect": { "hgvs": "XP_011518453.1:p.Pro236Thr", "hgvsWellDefined": "XP_011518453.1:p.Pro236Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS087320" }, { "coordinates": [ { "allele": "A", "end": 1015, "referenceAllele": "C", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520152.1:c.544C>A" ], "proteinEffect": { "hgvs": "XP_011518454.1:p.Pro182Thr", "hgvsWellDefined": "XP_011518454.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS087321" }, { "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "C", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520153.1:c.295C>A" ], "proteinEffect": { "hgvs": "XP_011518455.1:p.Pro99Thr", "hgvsWellDefined": "XP_011518455.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS087322" }, { "@id": "http://reg.genome.network/allele/PA2825646147", "coordinates": [ { "allele": "A", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.2:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Pro235Thr", "hgvsWellDefined": "NP_001121084.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676915" }, { "@id": "http://reg.genome.network/allele/PA2826475155", "coordinates": [ { "allele": "A", "end": 1214, "referenceAllele": "C", "start": 1213 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.2:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Pro249Thr", "hgvsWellDefined": "NP_001245391.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS680853" }, { "@id": "http://reg.genome.network/allele/PA2826476158", "coordinates": [ { "allele": "A", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.2:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Pro235Thr", "hgvsWellDefined": "NP_001245394.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS680854" }, { "@id": "http://reg.genome.network/allele/PA2826940766", "coordinates": [ { "allele": "A", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001297090.1:p.Pro99Thr", "hgvsWellDefined": "NP_001297090.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS684056" }, { "@id": "http://reg.genome.network/allele/PA2828292618", "coordinates": [ { "allele": "A", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.1:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355816.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691449" }, { "@id": "http://reg.genome.network/allele/PA2828292951", "coordinates": [ { "allele": "A", "end": 1130, "referenceAllele": "C", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.1:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355817.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691450" }, { "@id": "http://reg.genome.network/allele/PA2828293284", "coordinates": [ { "allele": "A", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.1:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355818.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691451" }, { "@id": "http://reg.genome.network/allele/PA2828293617", "coordinates": [ { "allele": "A", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.1:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355819.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691452" }, { "@id": "http://reg.genome.network/allele/PA2828293950", "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.1:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355820.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691453" }, { "@id": "http://reg.genome.network/allele/PA2828294287", "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "C", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.1:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Pro249Thr", "hgvsWellDefined": "NP_001355821.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691454" }, { "@id": "http://reg.genome.network/allele/PA2828294624", "coordinates": [ { "allele": "A", "end": 1241, "referenceAllele": "C", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.1:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Pro249Thr", "hgvsWellDefined": "NP_001355822.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691455" }, { "@id": "http://reg.genome.network/allele/PA2828294961", "coordinates": [ { "allele": "A", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.1:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Pro249Thr", "hgvsWellDefined": "NP_001355823.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691456" }, { "@id": "http://reg.genome.network/allele/PA2828296146", "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355828.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355828.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691461" }, { "@id": "http://reg.genome.network/allele/PA2828296325", "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355829.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355829.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691462" }, { "@id": "http://reg.genome.network/allele/PA2828296504", "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "C", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355830.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355830.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691463" }, { "@id": "http://reg.genome.network/allele/PA2828296683", "coordinates": [ { "allele": "A", "end": 1863, "referenceAllele": "C", "start": 1862 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355831.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355831.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691464" }, { "@id": "http://reg.genome.network/allele/PA2828296862", "coordinates": [ { "allele": "A", "end": 1574, "referenceAllele": "C", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355832.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355832.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691465" }, { "@id": "http://reg.genome.network/allele/PA2828297041", "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "C", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355833.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355833.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691466" }, { "@id": "http://reg.genome.network/allele/PA2828297220", "coordinates": [ { "allele": "A", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355834.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355834.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691467" }, { "@id": "http://reg.genome.network/allele/PA2828297399", "coordinates": [ { "allele": "A", "end": 1449, "referenceAllele": "C", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355835.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355835.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691468" }, { "@id": "http://reg.genome.network/allele/PA2828297578", "coordinates": [ { "allele": "A", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355836.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355836.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691469" }, { "@id": "http://reg.genome.network/allele/PA2828297757", "coordinates": [ { "allele": "A", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355837.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355837.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691470" }, { "@id": "http://reg.genome.network/allele/PA2828297936", "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355838.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355838.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691471" }, { "@id": "http://reg.genome.network/allele/PA2828298247", "coordinates": [ { "allele": "A", "end": 1370, "referenceAllele": "C", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.1:c.946C>A" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Pro316Thr", "hgvsWellDefined": "NP_001355839.1:p.Pro316Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691472" }, { "@id": "http://reg.genome.network/allele/PA2828298502", "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "C", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.1:c.748C>A" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Pro250Thr", "hgvsWellDefined": "NP_001355840.1:p.Pro250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691473" }, { "@id": "http://reg.genome.network/allele/PA2828298807", "coordinates": [ { "allele": "A", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.1:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Pro249Thr", "hgvsWellDefined": "NP_001355841.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691474" }, { "@id": "http://reg.genome.network/allele/PA2828299123", "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "C", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.1:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Pro249Thr", "hgvsWellDefined": "NP_001355842.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691475" }, { "@id": "http://reg.genome.network/allele/PA2828299439", "coordinates": [ { "allele": "A", "end": 1171, "referenceAllele": "C", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.1:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Pro249Thr", "hgvsWellDefined": "NP_001355843.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691476" }, { "@id": "http://reg.genome.network/allele/PA2828299751", "coordinates": [ { "allele": "A", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.1:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355844.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691477" }, { "@id": "http://reg.genome.network/allele/PA2828300063", "coordinates": [ { "allele": "A", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.1:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355845.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691478" }, { "@id": "http://reg.genome.network/allele/PA2828300366", "coordinates": [ { "allele": "A", "end": 1227, "referenceAllele": "C", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.1:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355846.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691479" }, { "@id": "http://reg.genome.network/allele/PA2828300692", "coordinates": [ { "allele": "A", "end": 1242, "referenceAllele": "C", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.1:c.820C>A" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Pro274Thr", "hgvsWellDefined": "NP_001355847.1:p.Pro274Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691480" }, { "@id": "http://reg.genome.network/allele/PA2828301016", "coordinates": [ { "allele": "A", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.1:c.820C>A" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Pro274Thr", "hgvsWellDefined": "NP_001355848.1:p.Pro274Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691481" }, { "@id": "http://reg.genome.network/allele/PA2828301337", "coordinates": [ { "allele": "A", "end": 1200, "referenceAllele": "C", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.1:c.778C>A" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Pro260Thr", "hgvsWellDefined": "NP_001355849.1:p.Pro260Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691482" }, { "@id": "http://reg.genome.network/allele/PA2828301603", "coordinates": [ { "allele": "A", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.1:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355850.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691483" }, { "@id": "http://reg.genome.network/allele/PA2828301848", "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.1:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355851.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691484" }, { "@id": "http://reg.genome.network/allele/PA2828302114", "coordinates": [ { "allele": "A", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.1:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355852.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691485" }, { "@id": "http://reg.genome.network/allele/PA2828302380", "coordinates": [ { "allele": "A", "end": 1005, "referenceAllele": "C", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.1:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355853.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691486" }, { "@id": "http://reg.genome.network/allele/PA2828302646", "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.1:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355854.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691487" }, { "@id": "http://reg.genome.network/allele/PA2828302912", "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "C", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.1:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355855.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691488" }, { "@id": "http://reg.genome.network/allele/PA2828303154", "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.1:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355856.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691489" }, { "@id": "http://reg.genome.network/allele/PA2828303407", "coordinates": [ { "allele": "A", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.1:c.502C>A" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Pro168Thr", "hgvsWellDefined": "NP_001355857.1:p.Pro168Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691490" }, { "@id": "http://reg.genome.network/allele/PA2741873764", "coordinates": [ { "allele": "A", "end": 1574, "referenceAllele": "C", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.1:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355858.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355858.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691491" }, { "@id": "http://reg.genome.network/allele/PA2828303656", "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368930.1:c.100C>A" ], "proteinEffect": { "hgvs": "NP_001355859.1:p.Pro34Thr", "hgvsWellDefined": "NP_001355859.1:p.Pro34Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691492" }, { "coordinates": [ { "allele": "A", "end": 1146, "endIntronDirection": "-", "endIntronOffset": 291, "referenceAllele": "C", "start": 1146, "startIntronDirection": "-", "startIntronOffset": 292 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.1:n.1147-292C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705223" }, { "coordinates": [ { "allele": "A", "end": 1151, "endIntronDirection": "-", "endIntronOffset": 291, "referenceAllele": "C", "start": 1151, "startIntronDirection": "-", "startIntronOffset": 292 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.1:n.1152-292C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705224" }, { "@id": "http://reg.genome.network/allele/PA2825138707", "coordinates": [ { "allele": "A", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.5:c.703C>A" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Pro235Thr", "hgvsWellDefined": "NP_000271.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS710820" }, { "@id": "http://reg.genome.network/allele/PA2825646147", "coordinates": [ { "allele": "A", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.3:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Pro235Thr", "hgvsWellDefined": "NP_001121084.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712221" }, { "@id": "http://reg.genome.network/allele/PA2826475155", "coordinates": [ { "allele": "A", "end": 1214, "referenceAllele": "C", "start": 1213 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.3:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Pro249Thr", "hgvsWellDefined": "NP_001245391.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS714982" }, { "@id": "http://reg.genome.network/allele/PA2826475492", "coordinates": [ { "allele": "A", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.2:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Pro249Thr", "hgvsWellDefined": "NP_001245392.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS714983" }, { "@id": "http://reg.genome.network/allele/PA2826475825", "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "C", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.2:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Pro235Thr", "hgvsWellDefined": "NP_001245393.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS714984" }, { "@id": "http://reg.genome.network/allele/PA2826476158", "coordinates": [ { "allele": "A", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.3:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Pro235Thr", "hgvsWellDefined": "NP_001245394.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS714985" }, { "@id": "http://reg.genome.network/allele/PA2826940116", "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "C", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.2:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Pro249Thr", "hgvsWellDefined": "NP_001297087.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS717309" }, { "@id": "http://reg.genome.network/allele/PA2826940587", "coordinates": [ { "allele": "A", "end": 2291, "referenceAllele": "C", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001297089.1:p.Pro99Thr", "hgvsWellDefined": "NP_001297089.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS717310" }, { "@id": "http://reg.genome.network/allele/PA2826940766", "coordinates": [ { "allele": "A", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.3:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001297090.1:p.Pro99Thr", "hgvsWellDefined": "NP_001297090.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS717311" }, { "@id": "http://reg.genome.network/allele/PA2828292618", "coordinates": [ { "allele": "A", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.2:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355816.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721095" }, { "@id": "http://reg.genome.network/allele/PA2828292951", "coordinates": [ { "allele": "A", "end": 1130, "referenceAllele": "C", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.2:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355817.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721096" }, { "@id": "http://reg.genome.network/allele/PA2828293284", "coordinates": [ { "allele": "A", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.2:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355818.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721097" }, { "@id": "http://reg.genome.network/allele/PA2828293617", "coordinates": [ { "allele": "A", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.2:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355819.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721098" }, { "@id": "http://reg.genome.network/allele/PA2828293950", "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.2:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355820.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721099" }, { "@id": "http://reg.genome.network/allele/PA2828294287", "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "C", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.2:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Pro249Thr", "hgvsWellDefined": "NP_001355821.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721100" }, { "@id": "http://reg.genome.network/allele/PA2828294624", "coordinates": [ { "allele": "A", "end": 1241, "referenceAllele": "C", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.2:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Pro249Thr", "hgvsWellDefined": "NP_001355822.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721101" }, { "@id": "http://reg.genome.network/allele/PA2828294961", "coordinates": [ { "allele": "A", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.2:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Pro249Thr", "hgvsWellDefined": "NP_001355823.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721102", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.745C>A" }, "RefSeq": { "hgvs": "NM_001368894.2:c.745C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Pro249Thr" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Pro249Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2828296146", "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355828.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355828.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721103" }, { "@id": "http://reg.genome.network/allele/PA2828296325", "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355829.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355829.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721104" }, { "@id": "http://reg.genome.network/allele/PA2828296504", "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "C", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355830.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355830.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721105" }, { "@id": "http://reg.genome.network/allele/PA2828296683", "coordinates": [ { "allele": "A", "end": 1863, "referenceAllele": "C", "start": 1862 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355831.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355831.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721106" }, { "@id": "http://reg.genome.network/allele/PA2828296862", "coordinates": [ { "allele": "A", "end": 1574, "referenceAllele": "C", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355832.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355832.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721107" }, { "@id": "http://reg.genome.network/allele/PA2828297041", "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "C", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355833.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355833.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721108" }, { "@id": "http://reg.genome.network/allele/PA2828297220", "coordinates": [ { "allele": "A", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355834.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355834.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721109" }, { "@id": "http://reg.genome.network/allele/PA2828297399", "coordinates": [ { "allele": "A", "end": 1449, "referenceAllele": "C", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355835.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355835.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721110" }, { "@id": "http://reg.genome.network/allele/PA2828297578", "coordinates": [ { "allele": "A", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355836.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355836.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721111" }, { "@id": "http://reg.genome.network/allele/PA2828297757", "coordinates": [ { "allele": "A", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355837.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355837.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721112" }, { "@id": "http://reg.genome.network/allele/PA2828297936", "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355838.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355838.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721113" }, { "@id": "http://reg.genome.network/allele/PA2828298247", "coordinates": [ { "allele": "A", "end": 1370, "referenceAllele": "C", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.2:c.946C>A" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Pro316Thr", "hgvsWellDefined": "NP_001355839.1:p.Pro316Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721114" }, { "@id": "http://reg.genome.network/allele/PA2828298502", "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "C", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.2:c.748C>A" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Pro250Thr", "hgvsWellDefined": "NP_001355840.1:p.Pro250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721115" }, { "@id": "http://reg.genome.network/allele/PA2828298807", "coordinates": [ { "allele": "A", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.2:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Pro249Thr", "hgvsWellDefined": "NP_001355841.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721116" }, { "@id": "http://reg.genome.network/allele/PA2828299123", "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "C", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.2:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Pro249Thr", "hgvsWellDefined": "NP_001355842.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721117" }, { "@id": "http://reg.genome.network/allele/PA2828299439", "coordinates": [ { "allele": "A", "end": 1171, "referenceAllele": "C", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.2:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Pro249Thr", "hgvsWellDefined": "NP_001355843.1:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721118" }, { "@id": "http://reg.genome.network/allele/PA2828299751", "coordinates": [ { "allele": "A", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.2:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355844.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721119" }, { "@id": "http://reg.genome.network/allele/PA2828300063", "coordinates": [ { "allele": "A", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.2:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355845.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721120" }, { "@id": "http://reg.genome.network/allele/PA2828300366", "coordinates": [ { "allele": "A", "end": 1227, "referenceAllele": "C", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.2:c.703C>A" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Pro235Thr", "hgvsWellDefined": "NP_001355846.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721121" }, { "@id": "http://reg.genome.network/allele/PA2828300692", "coordinates": [ { "allele": "A", "end": 1242, "referenceAllele": "C", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.2:c.820C>A" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Pro274Thr", "hgvsWellDefined": "NP_001355847.1:p.Pro274Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721122" }, { "@id": "http://reg.genome.network/allele/PA2828301016", "coordinates": [ { "allele": "A", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.2:c.820C>A" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Pro274Thr", "hgvsWellDefined": "NP_001355848.1:p.Pro274Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721123" }, { "@id": "http://reg.genome.network/allele/PA2828301337", "coordinates": [ { "allele": "A", "end": 1200, "referenceAllele": "C", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.2:c.778C>A" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Pro260Thr", "hgvsWellDefined": "NP_001355849.1:p.Pro260Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721124" }, { "@id": "http://reg.genome.network/allele/PA2828301603", "coordinates": [ { "allele": "A", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.2:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355850.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355850.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721125" }, { "@id": "http://reg.genome.network/allele/PA2828301848", "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.2:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355851.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355851.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721126" }, { "@id": "http://reg.genome.network/allele/PA2828302114", "coordinates": [ { "allele": "A", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.2:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355852.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355852.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721127" }, { "@id": "http://reg.genome.network/allele/PA2828302380", "coordinates": [ { "allele": "A", "end": 1005, "referenceAllele": "C", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.2:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355853.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355853.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721128" }, { "@id": "http://reg.genome.network/allele/PA2828302646", "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.2:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355854.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355854.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721129" }, { "@id": "http://reg.genome.network/allele/PA2828302912", "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "C", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.2:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355855.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355855.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721130" }, { "@id": "http://reg.genome.network/allele/PA2828303154", "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.2:c.544C>A" ], "proteinEffect": { "hgvs": "NP_001355856.1:p.Pro182Thr", "hgvsWellDefined": "NP_001355856.1:p.Pro182Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721131" }, { "@id": "http://reg.genome.network/allele/PA2828303407", "coordinates": [ { "allele": "A", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.2:c.502C>A" ], "proteinEffect": { "hgvs": "NP_001355857.1:p.Pro168Thr", "hgvsWellDefined": "NP_001355857.1:p.Pro168Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721132" }, { "@id": "http://reg.genome.network/allele/PA2741873764", "coordinates": [ { "allele": "A", "end": 1574, "referenceAllele": "C", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.2:c.295C>A" ], "proteinEffect": { "hgvs": "NP_001355858.1:p.Pro99Thr", "hgvsWellDefined": "NP_001355858.1:p.Pro99Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721133" }, { "@id": "http://reg.genome.network/allele/PA2828303656", "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368930.2:c.100C>A" ], "proteinEffect": { "hgvs": "NP_001355859.1:p.Pro34Thr", "hgvsWellDefined": "NP_001355859.1:p.Pro34Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721134" }, { "@id": "http://reg.genome.network/allele/PA2829332494", "coordinates": [ { "allele": "A", "end": 1171, "referenceAllele": "C", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.6:c.745C>A" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Pro249Thr", "hgvsWellDefined": "NP_001595.2:p.Pro249Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS727197" }, { "coordinates": [ { "allele": "A", "end": 1146, "endIntronDirection": "-", "endIntronOffset": 291, "referenceAllele": "C", "start": 1146, "startIntronDirection": "-", "startIntronOffset": 292 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.2:n.1147-292C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731591" }, { "coordinates": [ { "allele": "A", "end": 1151, "endIntronDirection": "-", "endIntronOffset": 291, "referenceAllele": "C", "start": 1151, "startIntronDirection": "-", "startIntronOffset": 292 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.2:n.1152-292C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731592" }, { "@id": "http://reg.genome.network/allele/PA2825138707", "coordinates": [ { "allele": "A", "end": 1227, "referenceAllele": "C", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.6:c.703C>A" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Pro235Thr", "hgvsWellDefined": "NP_000271.1:p.Pro235Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS781557" } ], "type": "nucleotide" }