{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379958520", "communityStandardTitle": [ "NM_001368894.2(PAX6):c.359T>C (p.Leu120Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2076980[alleleid]", "alleleId": 2076980, "preferredName": "NM_001368894.2(PAX6):c.359T>C (p.Leu120Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2024203", "RCV": [ "RCV002863142" ], "variationId": 2024203 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31823149A>G?assembly=hg19", "id": "chr11:g.31823149A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.31801601A>G?assembly=hg38", "id": "chr11:g.31801601A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2496124596", "rs": 2496124596 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 31801601, "referenceAllele": "A", "start": 31801600 } ], "hgvs": [ "NC_000011.10:g.31801601A>G", "CM000673.2:g.31801601A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 31823149, "referenceAllele": "A", "start": 31823148 } ], "hgvs": [ "NC_000011.9:g.31823149A>G", "CM000673.1:g.31823149A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 31779725, "referenceAllele": "A", "start": 31779724 } ], "hgvs": [ "NC_000011.8:g.31779725A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "C", "end": 21361, "referenceAllele": "T", "start": 21360 } ], "hgvs": [ "NG_008679.1:g.21361T>C", "LRG_720:g.21361T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001164" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 763, "referenceAllele": "T", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.13:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Leu106Ser", "hgvsWellDefined": "ENSP00000241001.8:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS741099" }, { "coordinates": [ { "allele": "C", "end": 887, "referenceAllele": "T", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379107.7:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000368401.2:p.Leu120Ser", "hgvsWellDefined": "ENSP00000368401.2:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752173" }, { "coordinates": [ { "allele": "C", "end": 1207, "referenceAllele": "T", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379109.7:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000368403.2:p.Leu106Ser", "hgvsWellDefined": "ENSP00000368403.2:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752174" }, { "coordinates": [ { "allele": "C", "end": 778, "referenceAllele": "T", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379111.7:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000368406.3:p.Leu106Ser", "hgvsWellDefined": "ENSP00000368406.3:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752175" }, { "coordinates": [ { "allele": "C", "end": 722, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 722, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379115.9:c.198+161T>C" ], "proteinEffect": { "hgvs": "ENSP00000368410.5:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS752176" }, { "coordinates": [ { "allele": "C", "end": 984, "referenceAllele": "T", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379123.10:c.-92T>C" ], "proteinEffect": { "hgvs": "ENSP00000368418.6:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS752178" }, { "coordinates": [ { "allele": "C", "end": 640, "referenceAllele": "T", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379129.7:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000368424.2:p.Leu120Ser", "hgvsWellDefined": "ENSP00000368424.2:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752179" }, { "coordinates": [ { "allele": "C", "end": 598, "referenceAllele": "T", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379132.8:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000368427.2:p.Leu106Ser", "hgvsWellDefined": "ENSP00000368427.2:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752180" }, { "coordinates": [ { "allele": "C", "end": 794, "referenceAllele": "T", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000419022.6:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000404100.1:p.Leu120Ser", "hgvsWellDefined": "ENSP00000404100.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS754772" }, { "coordinates": [ { "allele": "C", "end": 616, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 616, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000423822.7:c.198+161T>C" ], "proteinEffect": { "hgvs": "ENSP00000388132.3:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS754997" }, { "coordinates": [ { "allele": "C", "end": 633, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 633, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000438681.6:c.198+161T>C" ], "proteinEffect": { "hgvs": "ENSP00000404356.2:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS755709" }, { "coordinates": [ { "allele": "C", "end": 837, "referenceAllele": "T", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000455099.6:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000397384.2:p.Leu120Ser", "hgvsWellDefined": "ENSP00000397384.2:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS756498" }, { "coordinates": [ { "allele": "C", "end": 1933, "referenceAllele": "T", "start": 1932 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000470027.7:n.1933T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS756986" }, { "coordinates": [ { "allele": "C", "end": 739, "referenceAllele": "T", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000471303.6:n.739T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS757021" }, { "coordinates": [ { "allele": "C", "end": 847, "referenceAllele": "T", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000474783.2:n.847T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS757128" }, { "coordinates": [ { "allele": "C", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000481563.6:c.-92T>C" ], "proteinEffect": { "hgvs": "ENSP00000492205.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS757378" }, { "coordinates": [ { "allele": "C", "end": 419, "referenceAllele": "T", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000494377.7:n.419T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS757766" }, { "coordinates": [ { "allele": "C", "end": 1286, "referenceAllele": "T", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000524853.6:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000431585.2:p.Leu106Ser", "hgvsWellDefined": "ENSP00000431585.2:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS758876" }, { "coordinates": [ { "allele": "C", "end": 513, "referenceAllele": "T", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000530714.6:n.513T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS759200" }, { "coordinates": [ { "allele": "C", "end": 320, "referenceAllele": "T", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000531910.6:n.320T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS759266" }, { "coordinates": [ { "allele": "C", "end": 781, "referenceAllele": "T", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.7:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Leu120Ser", "hgvsWellDefined": "ENSP00000480026.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS761660" }, { "coordinates": [ { "allele": "C", "end": 544, "referenceAllele": "T", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638250.1:c.-92T>C" ], "proteinEffect": { "hgvs": "ENSP00000491365.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764429" }, { "coordinates": [ { "allele": "C", "end": 991, "referenceAllele": "T", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638346.1:c.-92T>C" ], "proteinEffect": { "hgvs": "ENSP00000491267.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764483" }, { "coordinates": [ { "allele": "C", "end": 1561, "referenceAllele": "T", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638629.1:c.-423T>C" ], "proteinEffect": { "hgvs": "ENSP00000490971.1:n.-423T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764625" }, { "coordinates": [ { "allele": "C", "end": 869, "endIntronDirection": "+", "endIntronOffset": 4801, "referenceAllele": "T", "start": 869, "startIntronDirection": "+", "startIntronOffset": 4800 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638685.1:c.10+4801T>C" ], "proteinEffect": { "hgvs": "ENSP00000492316.1:n.10+4801T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764650" }, { "coordinates": [ { "allele": "C", "end": 291, "endIntronDirection": "+", "endIntronOffset": 68, "referenceAllele": "T", "start": 291, "startIntronDirection": "+", "startIntronOffset": 67 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638696.1:c.291+68T>C" ], "proteinEffect": { "hgvs": "ENSP00000492756.1:n.291+68T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764655" }, { "coordinates": [ { "allele": "C", "end": 249, "endIntronDirection": "+", "endIntronOffset": 68, "referenceAllele": "T", "start": 249, "startIntronDirection": "+", "startIntronOffset": 67 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638755.1:c.249+68T>C" ], "proteinEffect": { "hgvs": "ENSP00000492181.1:n.249+68T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764687" }, { "coordinates": [ { "allele": "C", "end": 1773, "referenceAllele": "T", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638762.1:c.-92T>C" ], "proteinEffect": { "hgvs": "ENSP00000491517.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764689" }, { "coordinates": [ { "allele": "C", "end": 625, "referenceAllele": "T", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638802.1:c.-92T>C" ], "proteinEffect": { "hgvs": "ENSP00000492437.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764711" }, { "coordinates": [ { "allele": "C", "end": 267, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 267, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638853.1:c.-149+161T>C" ], "proteinEffect": { "hgvs": "ENSP00000491280.1:n.-149+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764738" }, { "coordinates": [ { "allele": "C", "end": 583, "referenceAllele": "T", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638878.1:c.-92T>C" ], "proteinEffect": { "hgvs": "ENSP00000492081.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764753" }, { "coordinates": [ { "allele": "C", "end": 762, "referenceAllele": "T", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638913.1:n.762T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS764765" }, { "coordinates": [ { "allele": "C", "end": 828, "referenceAllele": "T", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638914.3:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000492315.2:p.Leu120Ser", "hgvsWellDefined": "ENSP00000492315.2:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764766" }, { "coordinates": [ { "allele": "C", "end": 362, "referenceAllele": "T", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638963.1:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000491948.1:p.Leu106Ser", "hgvsWellDefined": "ENSP00000491948.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764792" }, { "coordinates": [ { "allele": "C", "end": 129, "endIntronDirection": "-", "endIntronOffset": 6812, "referenceAllele": "T", "start": 129, "startIntronDirection": "-", "startIntronOffset": 6813 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000638965.1:c.-80-6813T>C" ], "proteinEffect": { "hgvs": "ENSP00000492769.1:n.-80-6813T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764793" }, { "coordinates": [ { "allele": "C", "end": 572, "referenceAllele": "T", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639006.1:c.-189T>C" ], "proteinEffect": { "hgvs": "ENSP00000491210.1:n.-189T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764814" }, { "coordinates": [ { "allele": "C", "end": 850, "referenceAllele": "T", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639034.2:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000491679.1:p.Leu106Ser", "hgvsWellDefined": "ENSP00000491679.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764827" }, { "coordinates": [ { "allele": "C", "end": 736, "referenceAllele": "T", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639054.1:n.736T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS764840" }, { "coordinates": [ { "allele": "C", "end": 533, "referenceAllele": "T", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639061.1:c.-92T>C" ], "proteinEffect": { "hgvs": "ENSP00000491324.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764844" }, { "coordinates": [ { "allele": "C", "end": 1728, "referenceAllele": "T", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639079.1:c.-92T>C" ], "proteinEffect": { "hgvs": "ENSP00000492129.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764855" }, { "coordinates": [ { "allele": "C", "end": 1479, "referenceAllele": "T", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639109.1:c.-423T>C" ], "proteinEffect": { "hgvs": "ENSP00000491904.1:n.-423T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS764869" }, { "coordinates": [ { "allele": "C", "end": 415, "referenceAllele": "T", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639386.2:c.-92T>C" ], "proteinEffect": { "hgvs": "ENSP00000492658.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS765000" }, { "coordinates": [ { "allele": "C", "end": 728, "referenceAllele": "T", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639394.1:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000492177.1:p.Leu120Ser", "hgvsWellDefined": "ENSP00000492177.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765006" }, { "coordinates": [ { "allele": "C", "end": 766, "referenceAllele": "T", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639409.1:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000492476.1:p.Leu120Ser", "hgvsWellDefined": "ENSP00000492476.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765012" }, { "coordinates": [ { "allele": "C", "end": 505, "endIntronDirection": "+", "endIntronOffset": 68, "referenceAllele": "T", "start": 505, "startIntronDirection": "+", "startIntronOffset": 67 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639548.1:c.-52+68T>C" ], "proteinEffect": { "hgvs": "ENSP00000491944.1:n.-52+68T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS765076" }, { "coordinates": [ { "allele": "C", "end": 762, "referenceAllele": "T", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639916.1:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000490963.1:p.Leu106Ser", "hgvsWellDefined": "ENSP00000490963.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765241" }, { "coordinates": [ { "allele": "C", "end": 1839, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 1839, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639943.1:c.198+161T>C" ], "proteinEffect": { "hgvs": "ENSP00000491229.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS765252" }, { "coordinates": [ { "allele": "C", "end": 1193, "referenceAllele": "T", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000639950.1:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000491862.1:p.Leu106Ser", "hgvsWellDefined": "ENSP00000491862.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765255" }, { "coordinates": [ { "allele": "C", "end": 463, "endIntronDirection": "+", "endIntronOffset": 68, "referenceAllele": "T", "start": 463, "startIntronDirection": "+", "startIntronOffset": 67 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640125.1:c.-52+68T>C" ], "proteinEffect": { "hgvs": "ENSP00000492166.1:n.-52+68T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS765349" }, { "coordinates": [ { "allele": "C", "end": 892, "referenceAllele": "T", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640172.1:n.892T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS765368" }, { "coordinates": [ { "allele": "C", "end": 594, "referenceAllele": "T", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640242.1:c.320T>C" ], "proteinEffect": { "hgvs": "ENSP00000492409.1:p.Leu107Ser", "hgvsWellDefined": "ENSP00000492409.1:p.Leu107Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765398" }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "T", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640287.1:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000492822.1:p.Leu106Ser", "hgvsWellDefined": "ENSP00000492822.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765421" }, { "coordinates": [ { "allele": "C", "end": 357, "endIntronDirection": "+", "endIntronOffset": 4801, "referenceAllele": "T", "start": 357, "startIntronDirection": "+", "startIntronOffset": 4800 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640335.1:c.10+4801T>C" ], "proteinEffect": { "hgvs": "ENSP00000492808.1:n.10+4801T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS765446" }, { "coordinates": [ { "allele": "C", "end": 883, "referenceAllele": "T", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640368.2:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000492024.1:p.Leu120Ser", "hgvsWellDefined": "ENSP00000492024.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.359T>C" }, "RefSeq": { "hgvs": "NM_001368894.2:c.359T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Leu120Ser" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Leu120Ser" } } } }, { "coordinates": [ { "allele": "C", "end": 1284, "referenceAllele": "T", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640431.1:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000491779.1:p.Leu120Ser", "hgvsWellDefined": "ENSP00000491779.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765494" }, { "coordinates": [ { "allele": "C", "end": 812, "referenceAllele": "T", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640460.1:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000492802.1:p.Leu106Ser", "hgvsWellDefined": "ENSP00000492802.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765507" }, { "coordinates": [ { "allele": "C", "end": 752, "referenceAllele": "T", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640610.1:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000491295.1:p.Leu106Ser", "hgvsWellDefined": "ENSP00000491295.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765580" }, { "coordinates": [ { "allele": "C", "end": 617, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 617, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640613.1:c.198+161T>C" ], "proteinEffect": { "hgvs": "ENSP00000492587.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS765581" }, { "coordinates": [ { "allele": "C", "end": 651, "referenceAllele": "T", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640684.1:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000491492.1:p.Leu120Ser", "hgvsWellDefined": "ENSP00000491492.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765617" }, { "coordinates": [ { "allele": "C", "end": 392, "referenceAllele": "T", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640735.1:n.392T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS765648" }, { "coordinates": [ { "allele": "C", "end": 857, "referenceAllele": "T", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640766.1:c.-92T>C" ], "proteinEffect": { "hgvs": "ENSP00000491214.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS765664" }, { "coordinates": [ { "allele": "C", "end": 1433, "referenceAllele": "T", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640872.1:c.-92T>C" ], "proteinEffect": { "hgvs": "ENSP00000491065.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS765711" }, { "coordinates": [ { "allele": "C", "end": 478, "referenceAllele": "T", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640963.1:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000492397.1:p.Leu120Ser", "hgvsWellDefined": "ENSP00000492397.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765751" }, { "coordinates": [ { "allele": "C", "end": 869, "referenceAllele": "T", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000640975.1:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000491872.1:p.Leu120Ser", "hgvsWellDefined": "ENSP00000491872.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765758" }, { "coordinates": [ { "allele": "C", "end": 850, "referenceAllele": "T", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000643871.1:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000495109.1:p.Leu106Ser", "hgvsWellDefined": "ENSP00000495109.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS767517" }, { "coordinates": [ { "allele": "C", "end": 658, "referenceAllele": "T", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000241001.12:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000241001.8:p.Leu106Ser", "hgvsWellDefined": "ENSP00000241001.8:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS249157" }, { "coordinates": [ { "allele": "C", "end": 887, "referenceAllele": "T", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379107.6:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000368401.2:p.Leu120Ser", "hgvsWellDefined": "ENSP00000368401.2:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272346" }, { "coordinates": [ { "allele": "C", "end": 1207, "referenceAllele": "T", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379109.6:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000368403.2:p.Leu106Ser", "hgvsWellDefined": "ENSP00000368403.2:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272348" }, { "coordinates": [ { "allele": "C", "end": 663, "referenceAllele": "T", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379111.6:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000368406.2:p.Leu106Ser", "hgvsWellDefined": "ENSP00000368406.2:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272349" }, { "coordinates": [ { "allele": "C", "end": 794, "referenceAllele": "T", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379115.8:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000368410.4:p.Leu120Ser", "hgvsWellDefined": "ENSP00000368410.4:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272351" }, { "coordinates": [ { "allele": "C", "end": 1196, "referenceAllele": "T", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379123.9:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000368418.5:p.Leu106Ser", "hgvsWellDefined": "ENSP00000368418.5:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272355" }, { "coordinates": [ { "allele": "C", "end": 640, "referenceAllele": "T", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379129.6:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000368424.2:p.Leu120Ser", "hgvsWellDefined": "ENSP00000368424.2:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272359" }, { "coordinates": [ { "allele": "C", "end": 598, "referenceAllele": "T", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000379132.7:c.317T>C" ], "proteinEffect": { "hgvs": "ENSP00000368427.2:p.Leu106Ser", "hgvsWellDefined": "ENSP00000368427.2:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272360" }, { "coordinates": [ { "allele": "C", "end": 828, "referenceAllele": "T", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000419022.5:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000404100.1:p.Leu120Ser", "hgvsWellDefined": "ENSP00000404100.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS285683" }, { "coordinates": [ { "allele": "C", "end": 322, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 322, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000455099.5:c.198+161T>C" ], "proteinEffect": { "hgvs": "ENSP00000397384.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS302876" }, { "coordinates": [ { "allele": "C", "end": 129, "endIntronDirection": "-", "endIntronOffset": 6812, "referenceAllele": "T", "start": 129, "startIntronDirection": "-", "startIntronOffset": 6813 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000464174.5:n.130-6813T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS308064" }, { "coordinates": [ { "allele": "C", "end": 1561, "referenceAllele": "T", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000470027.6:n.1561T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS312565" }, { "coordinates": [ { "allele": "C", "end": 400, "referenceAllele": "T", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000471303.5:n.400T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS313536" }, { "coordinates": [ { "allele": "C", "end": 423, "referenceAllele": "T", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000481563.5:n.423T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS321447" }, { "coordinates": [ { "allele": "C", "end": 806, "referenceAllele": "T", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000494377.6:n.806T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS331325" }, { "coordinates": [ { "allele": "C", "end": 5223, "referenceAllele": "T", "start": 5222 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000533333.5:n.5223T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS358121" }, { "coordinates": [ { "allele": "C", "end": 517, "referenceAllele": "T", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000534353.5:n.517T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS358975" }, { "coordinates": [ { "allele": "C", "end": 444, "referenceAllele": "T", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000534390.1:n.444T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS359009" }, { "coordinates": [ { "allele": "C", "end": 766, "referenceAllele": "T", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "ENST00000606377.5:c.359T>C" ], "proteinEffect": { "hgvs": "ENSP00000480026.1:p.Leu120Ser", "hgvsWellDefined": "ENSP00000480026.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS399702" }, { "@id": "http://reg.genome.network/allele/PA2825138622", "coordinates": [ { "allele": "C", "end": 872, "referenceAllele": "T", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.4:c.317T>C" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Leu106Ser", "hgvsWellDefined": "NP_000271.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006341" }, { "@id": "http://reg.genome.network/allele/PA2825646042", "coordinates": [ { "allele": "C", "end": 786, "referenceAllele": "T", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.1:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Leu106Ser", "hgvsWellDefined": "NP_001121084.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011650" }, { "@id": "http://reg.genome.network/allele/PA2826475050", "coordinates": [ { "allele": "C", "end": 828, "referenceAllele": "T", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.1:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Leu120Ser", "hgvsWellDefined": "NP_001245391.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS019896" }, { "@id": "http://reg.genome.network/allele/PA2826475387", "coordinates": [ { "allele": "C", "end": 766, "referenceAllele": "T", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.1:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Leu120Ser", "hgvsWellDefined": "NP_001245392.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS019897" }, { "@id": "http://reg.genome.network/allele/PA2826475720", "coordinates": [ { "allele": "C", "end": 774, "referenceAllele": "T", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.1:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Leu106Ser", "hgvsWellDefined": "NP_001245393.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS019898" }, { "@id": "http://reg.genome.network/allele/PA2826476053", "coordinates": [ { "allele": "C", "end": 760, "referenceAllele": "T", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.1:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Leu106Ser", "hgvsWellDefined": "NP_001245394.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS019899" }, { "@id": "http://reg.genome.network/allele/PA2826940011", "coordinates": [ { "allele": "C", "end": 869, "referenceAllele": "T", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.1:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Leu120Ser", "hgvsWellDefined": "NP_001297087.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS026395" }, { "@id": "http://reg.genome.network/allele/PA2826940344", "coordinates": [ { "allele": "C", "end": 445, "referenceAllele": "T", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310159.1:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001297088.1:p.Leu106Ser", "hgvsWellDefined": "NP_001297088.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS026396" }, { "coordinates": [ { "allele": "C", "end": 1752, "referenceAllele": "T", "start": 1751 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.1:c.-423T>C" ], "proteinEffect": { "hgvs": "NP_001297089.1:n.-423T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS026397" }, { "coordinates": [ { "allele": "C", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.1:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS026398" }, { "@id": "http://reg.genome.network/allele/PA2829332364", "coordinates": [ { "allele": "C", "end": 816, "referenceAllele": "T", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.5:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Leu120Ser", "hgvsWellDefined": "NP_001595.2:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS026945" }, { "coordinates": [ { "allele": "C", "end": 830, "referenceAllele": "T", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252954.3:c.359T>C" ], "proteinEffect": { "hgvs": "XP_005253011.1:p.Leu120Ser", "hgvsWellDefined": "XP_005253011.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS060099" }, { "coordinates": [ { "allele": "C", "end": 812, "referenceAllele": "T", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252955.3:c.317T>C" ], "proteinEffect": { "hgvs": "XP_005253012.1:p.Leu106Ser", "hgvsWellDefined": "XP_005253012.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS060100" }, { "coordinates": [ { "allele": "C", "end": 1207, "referenceAllele": "T", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252956.3:c.317T>C" ], "proteinEffect": { "hgvs": "XP_005253013.1:p.Leu106Ser", "hgvsWellDefined": "XP_005253013.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS060101" }, { "coordinates": [ { "allele": "C", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_005252958.3:c.-423T>C" ], "proteinEffect": { "hgvs": "XP_005253015.1:n.-423T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS060102" }, { "coordinates": [ { "allele": "C", "end": 627, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 627, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_006718246.2:c.156+161T>C" ], "proteinEffect": { "hgvs": "XP_006718309.1:n.156+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS072538" }, { "coordinates": [ { "allele": "C", "end": 710, "referenceAllele": "T", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520146.1:c.563T>C" ], "proteinEffect": { "hgvs": "XP_011518448.1:p.Leu188Ser", "hgvsWellDefined": "XP_011518448.1:p.Leu188Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS087315" }, { "coordinates": [ { "allele": "C", "end": 667, "referenceAllele": "T", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520147.1:c.521T>C" ], "proteinEffect": { "hgvs": "XP_011518449.1:p.Leu174Ser", "hgvsWellDefined": "XP_011518449.1:p.Leu174Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS087316" }, { "coordinates": [ { "allele": "C", "end": 549, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 549, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520148.1:c.402+161T>C" ], "proteinEffect": { "hgvs": "XP_011518450.1:n.402+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS087317" }, { "coordinates": [ { "allele": "C", "end": 1648, "referenceAllele": "T", "start": 1647 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520149.1:c.359T>C" ], "proteinEffect": { "hgvs": "XP_011518451.1:p.Leu120Ser", "hgvsWellDefined": "XP_011518451.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS087318" }, { "coordinates": [ { "allele": "C", "end": 739, "referenceAllele": "T", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520150.1:c.359T>C" ], "proteinEffect": { "hgvs": "XP_011518452.1:p.Leu120Ser", "hgvsWellDefined": "XP_011518452.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS087319" }, { "coordinates": [ { "allele": "C", "end": 507, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 507, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520151.1:c.360+161T>C" ], "proteinEffect": { "hgvs": "XP_011518453.1:n.360+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS087320" }, { "coordinates": [ { "allele": "C", "end": 669, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 669, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520152.1:c.198+161T>C" ], "proteinEffect": { "hgvs": "XP_011518454.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS087321" }, { "coordinates": [ { "allele": "C", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "XM_011520153.1:c.-92T>C" ], "proteinEffect": { "hgvs": "XP_011518455.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS087322" }, { "@id": "http://reg.genome.network/allele/PA2825646042", "coordinates": [ { "allele": "C", "end": 786, "referenceAllele": "T", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.2:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Leu106Ser", "hgvsWellDefined": "NP_001121084.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676915" }, { "@id": "http://reg.genome.network/allele/PA2826475050", "coordinates": [ { "allele": "C", "end": 828, "referenceAllele": "T", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.2:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Leu120Ser", "hgvsWellDefined": "NP_001245391.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS680853" }, { "@id": "http://reg.genome.network/allele/PA2826476053", "coordinates": [ { "allele": "C", "end": 739, "referenceAllele": "T", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.2:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Leu106Ser", "hgvsWellDefined": "NP_001245394.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS680854" }, { "coordinates": [ { "allele": "C", "end": 457, "referenceAllele": "T", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.2:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS684056" }, { "@id": "http://reg.genome.network/allele/PA2828292513", "coordinates": [ { "allele": "C", "end": 864, "referenceAllele": "T", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.1:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355816.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691449" }, { "@id": "http://reg.genome.network/allele/PA2828292846", "coordinates": [ { "allele": "C", "end": 744, "referenceAllele": "T", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.1:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355817.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691450" }, { "@id": "http://reg.genome.network/allele/PA2828293179", "coordinates": [ { "allele": "C", "end": 499, "referenceAllele": "T", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.1:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355818.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691451" }, { "@id": "http://reg.genome.network/allele/PA2828293512", "coordinates": [ { "allele": "C", "end": 782, "referenceAllele": "T", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.1:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355819.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691452" }, { "@id": "http://reg.genome.network/allele/PA2828293845", "coordinates": [ { "allele": "C", "end": 778, "referenceAllele": "T", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.1:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355820.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691453" }, { "@id": "http://reg.genome.network/allele/PA2828294182", "coordinates": [ { "allele": "C", "end": 781, "referenceAllele": "T", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.1:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Leu120Ser", "hgvsWellDefined": "NP_001355821.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691454" }, { "@id": "http://reg.genome.network/allele/PA2828294519", "coordinates": [ { "allele": "C", "end": 855, "referenceAllele": "T", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.1:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Leu120Ser", "hgvsWellDefined": "NP_001355822.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691455" }, { "@id": "http://reg.genome.network/allele/PA2828294856", "coordinates": [ { "allele": "C", "end": 883, "referenceAllele": "T", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.1:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Leu120Ser", "hgvsWellDefined": "NP_001355823.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691456" }, { "coordinates": [ { "allele": "C", "end": 583, "referenceAllele": "T", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.1:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355828.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691461" }, { "coordinates": [ { "allele": "C", "end": 625, "referenceAllele": "T", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.1:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355829.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691462" }, { "coordinates": [ { "allele": "C", "end": 415, "referenceAllele": "T", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.1:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355830.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691463" }, { "coordinates": [ { "allele": "C", "end": 1146, "referenceAllele": "T", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.1:c.-423T>C" ], "proteinEffect": { "hgvs": "NP_001355831.1:n.-423T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691464" }, { "coordinates": [ { "allele": "C", "end": 1188, "referenceAllele": "T", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.1:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355832.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691465" }, { "coordinates": [ { "allele": "C", "end": 608, "referenceAllele": "T", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.1:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691466" }, { "coordinates": [ { "allele": "C", "end": 781, "referenceAllele": "T", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.1:c.-423T>C" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-423T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691467" }, { "coordinates": [ { "allele": "C", "end": 1063, "referenceAllele": "T", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.1:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355835.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691468" }, { "coordinates": [ { "allele": "C", "end": 1146, "referenceAllele": "T", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.1:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355836.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691469" }, { "coordinates": [ { "allele": "C", "end": 533, "referenceAllele": "T", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.1:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355837.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691470" }, { "coordinates": [ { "allele": "C", "end": 470, "referenceAllele": "T", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.1:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691471" }, { "@id": "http://reg.genome.network/allele/PA2580229144", "coordinates": [ { "allele": "C", "end": 984, "referenceAllele": "T", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.1:c.560T>C" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Leu187Ser", "hgvsWellDefined": "NP_001355839.1:p.Leu187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691472" }, { "@id": "http://reg.genome.network/allele/PA2828298397", "coordinates": [ { "allele": "C", "end": 643, "referenceAllele": "T", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.1:c.362T>C" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Leu121Ser", "hgvsWellDefined": "NP_001355840.1:p.Leu121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691473" }, { "@id": "http://reg.genome.network/allele/PA2828298702", "coordinates": [ { "allele": "C", "end": 883, "referenceAllele": "T", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.1:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Leu120Ser", "hgvsWellDefined": "NP_001355841.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691474" }, { "@id": "http://reg.genome.network/allele/PA2828299018", "coordinates": [ { "allele": "C", "end": 781, "referenceAllele": "T", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.1:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Leu120Ser", "hgvsWellDefined": "NP_001355842.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691475" }, { "@id": "http://reg.genome.network/allele/PA2828299334", "coordinates": [ { "allele": "C", "end": 785, "referenceAllele": "T", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.1:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Leu120Ser", "hgvsWellDefined": "NP_001355843.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691476" }, { "@id": "http://reg.genome.network/allele/PA2828299646", "coordinates": [ { "allele": "C", "end": 864, "referenceAllele": "T", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.1:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355844.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691477" }, { "@id": "http://reg.genome.network/allele/PA2828299958", "coordinates": [ { "allele": "C", "end": 739, "referenceAllele": "T", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.1:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355845.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691478" }, { "@id": "http://reg.genome.network/allele/PA2828300261", "coordinates": [ { "allele": "C", "end": 841, "referenceAllele": "T", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.1:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355846.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691479" }, { "@id": "http://reg.genome.network/allele/PA2828300587", "coordinates": [ { "allele": "C", "end": 856, "referenceAllele": "T", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.1:c.434T>C" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Leu145Ser", "hgvsWellDefined": "NP_001355847.1:p.Leu145Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691480" }, { "@id": "http://reg.genome.network/allele/PA2828300911", "coordinates": [ { "allele": "C", "end": 903, "referenceAllele": "T", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.1:c.434T>C" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Leu145Ser", "hgvsWellDefined": "NP_001355848.1:p.Leu145Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691481" }, { "@id": "http://reg.genome.network/allele/PA2828301232", "coordinates": [ { "allele": "C", "end": 814, "referenceAllele": "T", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.1:c.392T>C" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Leu131Ser", "hgvsWellDefined": "NP_001355849.1:p.Leu131Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691482" }, { "coordinates": [ { "allele": "C", "end": 667, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 667, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.1:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355850.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691483" }, { "coordinates": [ { "allele": "C", "end": 724, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 724, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.1:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355851.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691484" }, { "coordinates": [ { "allele": "C", "end": 667, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 667, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.1:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355852.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691485" }, { "coordinates": [ { "allele": "C", "end": 659, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 659, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.1:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355853.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691486" }, { "coordinates": [ { "allele": "C", "end": 620, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 620, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.1:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355854.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691487" }, { "coordinates": [ { "allele": "C", "end": 624, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 624, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.1:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355855.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691488" }, { "coordinates": [ { "allele": "C", "end": 722, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 722, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.1:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355856.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691489" }, { "coordinates": [ { "allele": "C", "end": 578, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 578, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.1:c.156+161T>C" ], "proteinEffect": { "hgvs": "NP_001355857.1:n.156+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691490" }, { "coordinates": [ { "allele": "C", "end": 1188, "referenceAllele": "T", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.1:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355858.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS691491" }, { "coordinates": [ { "allele": "C", "end": 781, "referenceAllele": "T", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.1:n.781T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS705223" }, { "coordinates": [ { "allele": "C", "end": 786, "referenceAllele": "T", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.1:n.786T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS705224" }, { "@id": "http://reg.genome.network/allele/PA2825138622", "coordinates": [ { "allele": "C", "end": 640, "referenceAllele": "T", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.5:c.317T>C" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Leu106Ser", "hgvsWellDefined": "NP_000271.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS710820" }, { "@id": "http://reg.genome.network/allele/PA2825646042", "coordinates": [ { "allele": "C", "end": 786, "referenceAllele": "T", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001127612.3:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001121084.1:p.Leu106Ser", "hgvsWellDefined": "NP_001121084.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS712221" }, { "@id": "http://reg.genome.network/allele/PA2826475050", "coordinates": [ { "allele": "C", "end": 828, "referenceAllele": "T", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258462.3:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001245391.1:p.Leu120Ser", "hgvsWellDefined": "NP_001245391.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS714982" }, { "@id": "http://reg.genome.network/allele/PA2826475387", "coordinates": [ { "allele": "C", "end": 786, "referenceAllele": "T", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258463.2:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001245392.1:p.Leu120Ser", "hgvsWellDefined": "NP_001245392.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS714983" }, { "@id": "http://reg.genome.network/allele/PA2826475720", "coordinates": [ { "allele": "C", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258464.2:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001245393.1:p.Leu106Ser", "hgvsWellDefined": "NP_001245393.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS714984" }, { "@id": "http://reg.genome.network/allele/PA2826476053", "coordinates": [ { "allele": "C", "end": 739, "referenceAllele": "T", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001258465.3:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001245394.1:p.Leu106Ser", "hgvsWellDefined": "NP_001245394.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS714985" }, { "@id": "http://reg.genome.network/allele/PA2826940011", "coordinates": [ { "allele": "C", "end": 730, "referenceAllele": "T", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310158.2:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001297087.1:p.Leu120Ser", "hgvsWellDefined": "NP_001297087.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS717309" }, { "coordinates": [ { "allele": "C", "end": 1574, "referenceAllele": "T", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310160.2:c.-423T>C" ], "proteinEffect": { "hgvs": "NP_001297089.1:n.-423T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS717310" }, { "coordinates": [ { "allele": "C", "end": 457, "referenceAllele": "T", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001310161.3:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001297090.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS717311" }, { "@id": "http://reg.genome.network/allele/PA2828292513", "coordinates": [ { "allele": "C", "end": 864, "referenceAllele": "T", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368887.2:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355816.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355816.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721095" }, { "@id": "http://reg.genome.network/allele/PA2828292846", "coordinates": [ { "allele": "C", "end": 744, "referenceAllele": "T", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368888.2:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355817.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355817.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721096" }, { "@id": "http://reg.genome.network/allele/PA2828293179", "coordinates": [ { "allele": "C", "end": 499, "referenceAllele": "T", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368889.2:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355818.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355818.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721097" }, { "@id": "http://reg.genome.network/allele/PA2828293512", "coordinates": [ { "allele": "C", "end": 782, "referenceAllele": "T", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368890.2:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355819.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355819.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721098" }, { "@id": "http://reg.genome.network/allele/PA2828293845", "coordinates": [ { "allele": "C", "end": 778, "referenceAllele": "T", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368891.2:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355820.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355820.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721099" }, { "@id": "http://reg.genome.network/allele/PA2828294182", "coordinates": [ { "allele": "C", "end": 781, "referenceAllele": "T", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368892.2:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001355821.1:p.Leu120Ser", "hgvsWellDefined": "NP_001355821.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721100" }, { "@id": "http://reg.genome.network/allele/PA2828294519", "coordinates": [ { "allele": "C", "end": 855, "referenceAllele": "T", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368893.2:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001355822.1:p.Leu120Ser", "hgvsWellDefined": "NP_001355822.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721101" }, { "@id": "http://reg.genome.network/allele/PA2828294856", "coordinates": [ { "allele": "C", "end": 883, "referenceAllele": "T", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368894.2:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001355823.1:p.Leu120Ser", "hgvsWellDefined": "NP_001355823.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721102", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000640368.2:c.359T>C" }, "RefSeq": { "hgvs": "NM_001368894.2:c.359T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000492024.1:p.Leu120Ser" }, "RefSeq": { "hgvs": "NP_001355823.1:p.Leu120Ser" } } } }, { "coordinates": [ { "allele": "C", "end": 583, "referenceAllele": "T", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368899.2:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355828.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721103" }, { "coordinates": [ { "allele": "C", "end": 625, "referenceAllele": "T", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368900.2:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355829.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721104" }, { "coordinates": [ { "allele": "C", "end": 415, "referenceAllele": "T", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368901.2:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355830.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721105" }, { "coordinates": [ { "allele": "C", "end": 1146, "referenceAllele": "T", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368902.2:c.-423T>C" ], "proteinEffect": { "hgvs": "NP_001355831.1:n.-423T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721106" }, { "coordinates": [ { "allele": "C", "end": 1188, "referenceAllele": "T", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368903.2:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355832.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721107" }, { "coordinates": [ { "allele": "C", "end": 608, "referenceAllele": "T", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368904.2:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355833.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721108" }, { "coordinates": [ { "allele": "C", "end": 781, "referenceAllele": "T", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368905.2:c.-423T>C" ], "proteinEffect": { "hgvs": "NP_001355834.1:n.-423T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721109" }, { "coordinates": [ { "allele": "C", "end": 1063, "referenceAllele": "T", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368906.2:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355835.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721110" }, { "coordinates": [ { "allele": "C", "end": 1146, "referenceAllele": "T", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368907.2:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355836.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721111" }, { "coordinates": [ { "allele": "C", "end": 533, "referenceAllele": "T", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368908.2:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355837.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721112" }, { "coordinates": [ { "allele": "C", "end": 470, "referenceAllele": "T", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368909.2:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355838.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721113" }, { "@id": "http://reg.genome.network/allele/PA2580229144", "coordinates": [ { "allele": "C", "end": 984, "referenceAllele": "T", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368910.2:c.560T>C" ], "proteinEffect": { "hgvs": "NP_001355839.1:p.Leu187Ser", "hgvsWellDefined": "NP_001355839.1:p.Leu187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721114" }, { "@id": "http://reg.genome.network/allele/PA2828298397", "coordinates": [ { "allele": "C", "end": 643, "referenceAllele": "T", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368911.2:c.362T>C" ], "proteinEffect": { "hgvs": "NP_001355840.1:p.Leu121Ser", "hgvsWellDefined": "NP_001355840.1:p.Leu121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721115" }, { "@id": "http://reg.genome.network/allele/PA2828298702", "coordinates": [ { "allele": "C", "end": 883, "referenceAllele": "T", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368912.2:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001355841.1:p.Leu120Ser", "hgvsWellDefined": "NP_001355841.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721116" }, { "@id": "http://reg.genome.network/allele/PA2828299018", "coordinates": [ { "allele": "C", "end": 781, "referenceAllele": "T", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368913.2:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001355842.1:p.Leu120Ser", "hgvsWellDefined": "NP_001355842.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721117" }, { "@id": "http://reg.genome.network/allele/PA2828299334", "coordinates": [ { "allele": "C", "end": 785, "referenceAllele": "T", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368914.2:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001355843.1:p.Leu120Ser", "hgvsWellDefined": "NP_001355843.1:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721118" }, { "@id": "http://reg.genome.network/allele/PA2828299646", "coordinates": [ { "allele": "C", "end": 864, "referenceAllele": "T", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368915.2:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355844.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355844.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721119" }, { "@id": "http://reg.genome.network/allele/PA2828299958", "coordinates": [ { "allele": "C", "end": 739, "referenceAllele": "T", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368916.2:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355845.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355845.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721120" }, { "@id": "http://reg.genome.network/allele/PA2828300261", "coordinates": [ { "allele": "C", "end": 841, "referenceAllele": "T", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368917.2:c.317T>C" ], "proteinEffect": { "hgvs": "NP_001355846.1:p.Leu106Ser", "hgvsWellDefined": "NP_001355846.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721121" }, { "@id": "http://reg.genome.network/allele/PA2828300587", "coordinates": [ { "allele": "C", "end": 856, "referenceAllele": "T", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368918.2:c.434T>C" ], "proteinEffect": { "hgvs": "NP_001355847.1:p.Leu145Ser", "hgvsWellDefined": "NP_001355847.1:p.Leu145Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721122" }, { "@id": "http://reg.genome.network/allele/PA2828300911", "coordinates": [ { "allele": "C", "end": 903, "referenceAllele": "T", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368919.2:c.434T>C" ], "proteinEffect": { "hgvs": "NP_001355848.1:p.Leu145Ser", "hgvsWellDefined": "NP_001355848.1:p.Leu145Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721123" }, { "@id": "http://reg.genome.network/allele/PA2828301232", "coordinates": [ { "allele": "C", "end": 814, "referenceAllele": "T", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368920.2:c.392T>C" ], "proteinEffect": { "hgvs": "NP_001355849.1:p.Leu131Ser", "hgvsWellDefined": "NP_001355849.1:p.Leu131Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721124" }, { "coordinates": [ { "allele": "C", "end": 667, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 667, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368921.2:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355850.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721125" }, { "coordinates": [ { "allele": "C", "end": 724, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 724, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368922.2:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355851.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721126" }, { "coordinates": [ { "allele": "C", "end": 667, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 667, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368923.2:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355852.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721127" }, { "coordinates": [ { "allele": "C", "end": 659, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 659, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368924.2:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355853.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721128" }, { "coordinates": [ { "allele": "C", "end": 620, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 620, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368925.2:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355854.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721129" }, { "coordinates": [ { "allele": "C", "end": 624, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 624, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368926.2:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355855.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721130" }, { "coordinates": [ { "allele": "C", "end": 722, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 722, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368927.2:c.198+161T>C" ], "proteinEffect": { "hgvs": "NP_001355856.1:n.198+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721131" }, { "coordinates": [ { "allele": "C", "end": 578, "endIntronDirection": "+", "endIntronOffset": 161, "referenceAllele": "T", "start": 578, "startIntronDirection": "+", "startIntronOffset": 160 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368928.2:c.156+161T>C" ], "proteinEffect": { "hgvs": "NP_001355857.1:n.156+161T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721132" }, { "coordinates": [ { "allele": "C", "end": 1188, "referenceAllele": "T", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001368929.2:c.-92T>C" ], "proteinEffect": { "hgvs": "NP_001355858.1:n.-92T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS721133" }, { "@id": "http://reg.genome.network/allele/PA2829332364", "coordinates": [ { "allele": "C", "end": 785, "referenceAllele": "T", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_001604.6:c.359T>C" ], "proteinEffect": { "hgvs": "NP_001595.2:p.Leu120Ser", "hgvsWellDefined": "NP_001595.2:p.Leu120Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS727197" }, { "coordinates": [ { "allele": "C", "end": 781, "referenceAllele": "T", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160916.2:n.781T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731591" }, { "coordinates": [ { "allele": "C", "end": 786, "referenceAllele": "T", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NR_160917.2:n.786T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731592" }, { "@id": "http://reg.genome.network/allele/PA2825138622", "coordinates": [ { "allele": "C", "end": 841, "referenceAllele": "T", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN008620", "geneNCBI_id": 5080, "geneSymbol": "PAX6", "hgvs": [ "NM_000280.6:c.317T>C" ], "proteinEffect": { "hgvs": "NP_000271.1:p.Leu106Ser", "hgvsWellDefined": "NP_000271.1:p.Leu106Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS781557" } ], "type": "nucleotide" }