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Items: 1 to 20 of 396

1.

rs1489785272 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    11:31794755 (GRCh38)
    11:31816303 (GRCh37)
    Canonical SPDI:
    NC_000011.10:31794754:T:G
    Gene:
    PAX6 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000023/6 (TOPMED)
    HGVS:
    NC_000011.10:g.31794755T>G, NC_000011.9:g.31816303T>G, NG_008679.1:g.28207A>C, NM_000280.6:c.557A>C, NM_000280.5:c.557A>C, NM_000280.4:c.557A>C, NM_001604.6:c.599A>C, NM_001604.5:c.599A>C, NM_001258462.3:c.599A>C, NM_001258462.2:c.599A>C, NM_001258462.1:c.599A>C, NM_001127612.3:c.557A>C, NM_001127612.2:c.557A>C, NM_001127612.1:c.557A>C, NM_001258465.3:c.557A>C, NM_001258465.2:c.557A>C, NM_001258465.1:c.557A>C, NM_001310161.3:c.149A>C, NM_001310161.2:c.149A>C, NM_001310161.1:c.149A>C, NM_001310160.2:c.149A>C, NM_001310160.1:c.149A>C, NM_001368902.2:c.149A>C, NM_001368902.1:c.149A>C, NM_001368903.2:c.149A>C, NM_001368903.1:c.149A>C, NM_001368907.2:c.149A>C, NM_001368907.1:c.149A>C, NM_001368905.2:c.149A>C, NM_001368905.1:c.149A>C, NM_001368906.2:c.149A>C, NM_001368906.1:c.149A>C, NM_001368929.2:c.149A>C, NM_001368929.1:c.149A>C, NM_001368910.2:c.800A>C, NM_001368910.1:c.800A>C, NM_001368919.2:c.674A>C, NM_001368919.1:c.674A>C, NM_001368894.2:c.599A>C, NM_001368894.1:c.599A>C, NM_001368887.2:c.557A>C, NM_001368887.1:c.557A>C, NM_001368918.2:c.674A>C, NM_001368918.1:c.674A>C, NM_001368893.2:c.599A>C, NM_001368893.1:c.599A>C, NM_001368920.2:c.632A>C, NM_001368920.1:c.632A>C, NM_001258463.2:c.599A>C, NM_001258463.1:c.599A>C, NM_001368890.2:c.557A>C, NM_001368890.1:c.557A>C, NM_001368892.2:c.599A>C, NM_001368892.1:c.599A>C, NM_001368891.2:c.557A>C, NM_001368891.1:c.557A>C, NM_001368888.2:c.557A>C, NM_001368888.1:c.557A>C, NM_001258464.2:c.557A>C, NM_001258464.1:c.557A>C, NM_001368912.2:c.599A>C, NM_001368912.1:c.599A>C, NM_001310158.2:c.599A>C, NM_001310158.1:c.599A>C, NM_001368915.2:c.557A>C, NM_001368915.1:c.557A>C, NR_160917.2:n.1026A>C, NR_160917.1:n.1026A>C, NM_001368917.2:c.557A>C, NM_001368917.1:c.557A>C, NM_001368922.2:c.398A>C, NM_001368922.1:c.398A>C, NM_001368927.2:c.398A>C, NM_001368927.1:c.398A>C, NM_001368914.2:c.599A>C, NM_001368914.1:c.599A>C, NM_001368913.2:c.599A>C, NM_001368913.1:c.599A>C, NM_001368923.2:c.398A>C, NM_001368923.1:c.398A>C, NM_001368900.2:c.149A>C, NM_001368900.1:c.149A>C, NM_001368924.2:c.398A>C, NM_001368924.1:c.398A>C, NM_001368904.2:c.149A>C, NM_001368904.1:c.149A>C, NM_001368916.2:c.557A>C, NM_001368916.1:c.557A>C, NM_001368926.2:c.398A>C, NM_001368926.1:c.398A>C, NM_001368899.2:c.149A>C, NM_001368899.1:c.149A>C, NM_001368925.2:c.398A>C, NM_001368925.1:c.398A>C, NR_160916.2:n.1021A>C, NR_160916.1:n.1021A>C, NM_001368928.2:c.356A>C, NM_001368928.1:c.356A>C, NM_001368908.2:c.149A>C, NM_001368908.1:c.149A>C, NM_001368889.2:c.557A>C, NM_001368889.1:c.557A>C, NM_001368911.2:c.602A>C, NM_001368911.1:c.602A>C, NM_001368921.2:c.398A>C, NM_001368921.1:c.398A>C, NM_001368909.2:c.149A>C, NM_001368909.1:c.149A>C, NM_001368901.2:c.149A>C, NM_001368901.1:c.149A>C, NM_001368930.2:c.-47A>C, NM_001368930.1:c.-47A>C, NM_001310159.1:c.557A>C, NP_000271.1:p.Asn186Thr, NP_001595.2:p.Asn200Thr, NP_001245391.1:p.Asn200Thr, NP_001121084.1:p.Asn186Thr, NP_001245394.1:p.Asn186Thr, NP_001297090.1:p.Asn50Thr, NP_001297089.1:p.Asn50Thr, NP_001355831.1:p.Asn50Thr, NP_001355832.1:p.Asn50Thr, NP_001355836.1:p.Asn50Thr, NP_001355834.1:p.Asn50Thr, NP_001355835.1:p.Asn50Thr, NP_001355858.1:p.Asn50Thr, NP_001355839.1:p.Asn267Thr, NP_001355848.1:p.Asn225Thr, NP_001355823.1:p.Asn200Thr, NP_001355816.1:p.Asn186Thr, NP_001355847.1:p.Asn225Thr, NP_001355822.1:p.Asn200Thr, NP_001355849.1:p.Asn211Thr, NP_001245392.1:p.Asn200Thr, NP_001355819.1:p.Asn186Thr, NP_001355821.1:p.Asn200Thr, NP_001355820.1:p.Asn186Thr, NP_001355817.1:p.Asn186Thr, NP_001245393.1:p.Asn186Thr, NP_001355841.1:p.Asn200Thr, NP_001297087.1:p.Asn200Thr, NP_001355844.1:p.Asn186Thr, NP_001355846.1:p.Asn186Thr, NP_001355851.1:p.Asn133Thr, NP_001355856.1:p.Asn133Thr, NP_001355843.1:p.Asn200Thr, NP_001355842.1:p.Asn200Thr, NP_001355852.1:p.Asn133Thr, NP_001355829.1:p.Asn50Thr, NP_001355853.1:p.Asn133Thr, NP_001355833.1:p.Asn50Thr, NP_001355845.1:p.Asn186Thr, NP_001355855.1:p.Asn133Thr, NP_001355828.1:p.Asn50Thr, NP_001355854.1:p.Asn133Thr, NP_001355857.1:p.Asn119Thr, NP_001355837.1:p.Asn50Thr, NP_001355818.1:p.Asn186Thr, NP_001355840.1:p.Asn201Thr, NP_001355850.1:p.Asn133Thr, NP_001355838.1:p.Asn50Thr, NP_001355830.1:p.Asn50Thr, NP_001297088.1:p.Asn186Thr

    2.

    rs1486857158 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:31802802 (GRCh38)
      11:31824350 (GRCh37)
      Canonical SPDI:
      NC_000011.10:31802801:A:G
      Gene:
      PAX6 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,5_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.31802802A>G, NC_000011.9:g.31824350A>G, NG_008679.1:g.20160T>C, NM_000280.6:c.43T>C, NM_000280.5:c.43T>C, NM_000280.4:c.43T>C, NM_001604.6:c.43T>C, NM_001604.5:c.43T>C, NM_001258462.3:c.43T>C, NM_001258462.2:c.43T>C, NM_001258462.1:c.43T>C, NM_001127612.3:c.43T>C, NM_001127612.2:c.43T>C, NM_001127612.1:c.43T>C, NM_001258465.3:c.43T>C, NM_001258465.2:c.43T>C, NM_001258465.1:c.43T>C, NM_001310161.3:c.-408T>C, NM_001310161.2:c.-408T>C, NM_001310161.1:c.-408T>C, NM_001310160.2:c.-739T>C, NM_001310160.1:c.-739T>C, NM_001368902.2:c.-697T>C, NM_001368902.1:c.-697T>C, NM_001368903.2:c.-408T>C, NM_001368903.1:c.-408T>C, NM_001368907.2:c.-366T>C, NM_001368907.1:c.-366T>C, NM_001368905.2:c.-739T>C, NM_001368905.1:c.-739T>C, NM_001368906.2:c.-366T>C, NM_001368906.1:c.-366T>C, NM_001368929.2:c.-408T>C, NM_001368929.1:c.-408T>C, NM_001368910.2:c.286T>C, NM_001368910.1:c.286T>C, NM_001368919.2:c.43T>C, NM_001368919.1:c.43T>C, NM_001368894.2:c.43T>C, NM_001368894.1:c.43T>C, NM_001368887.2:c.43T>C, NM_001368887.1:c.43T>C, NM_001368918.2:c.43T>C, NM_001368918.1:c.43T>C, NM_001368893.2:c.43T>C, NM_001368893.1:c.43T>C, NM_001368920.2:c.43T>C, NM_001368920.1:c.43T>C, NM_001258463.2:c.43T>C, NM_001258463.1:c.43T>C, NM_001368890.2:c.43T>C, NM_001368890.1:c.43T>C, NM_001368892.2:c.43T>C, NM_001368892.1:c.43T>C, NM_001368891.2:c.43T>C, NM_001368891.1:c.43T>C, NM_001368888.2:c.43T>C, NM_001368888.1:c.43T>C, NM_001258464.2:c.43T>C, NM_001258464.1:c.43T>C, NM_001368912.2:c.43T>C, NM_001368912.1:c.43T>C, NM_001310158.2:c.43T>C, NM_001310158.1:c.43T>C, NM_001368915.2:c.43T>C, NM_001368915.1:c.43T>C, NR_160917.2:n.512T>C, NR_160917.1:n.512T>C, NM_001368917.2:c.43T>C, NM_001368917.1:c.43T>C, NM_001368922.2:c.43T>C, NM_001368922.1:c.43T>C, NM_001368927.2:c.43T>C, NM_001368927.1:c.43T>C, NM_001368914.2:c.43T>C, NM_001368914.1:c.43T>C, NM_001368913.2:c.43T>C, NM_001368913.1:c.43T>C, NM_001368923.2:c.43T>C, NM_001368923.1:c.43T>C, NM_001368900.2:c.-408T>C, NM_001368900.1:c.-408T>C, NM_001368924.2:c.43T>C, NM_001368924.1:c.43T>C, NM_001368916.2:c.43T>C, NM_001368916.1:c.43T>C, NM_001368926.2:c.43T>C, NM_001368926.1:c.43T>C, NM_001368899.2:c.-366T>C, NM_001368899.1:c.-366T>C, NM_001368925.2:c.43T>C, NM_001368925.1:c.43T>C, NR_160916.2:n.465T>C, NR_160916.1:n.465T>C, NM_001368928.2:c.43T>C, NM_001368928.1:c.43T>C, NM_001368908.2:c.-408T>C, NM_001368908.1:c.-408T>C, NM_001368889.2:c.43T>C, NM_001368889.1:c.43T>C, NM_001368911.2:c.46T>C, NM_001368911.1:c.46T>C, NM_001368921.2:c.43T>C, NM_001368921.1:c.43T>C, NM_001368901.2:c.-366T>C, NM_001368901.1:c.-366T>C, NM_001310159.1:c.43T>C, NP_000271.1:p.Phe15Leu, NP_001595.2:p.Phe15Leu, NP_001245391.1:p.Phe15Leu, NP_001121084.1:p.Phe15Leu, NP_001245394.1:p.Phe15Leu, NP_001355839.1:p.Phe96Leu, NP_001355848.1:p.Phe15Leu, NP_001355823.1:p.Phe15Leu, NP_001355816.1:p.Phe15Leu, NP_001355847.1:p.Phe15Leu, NP_001355822.1:p.Phe15Leu, NP_001355849.1:p.Phe15Leu, NP_001245392.1:p.Phe15Leu, NP_001355819.1:p.Phe15Leu, NP_001355821.1:p.Phe15Leu, NP_001355820.1:p.Phe15Leu, NP_001355817.1:p.Phe15Leu, NP_001245393.1:p.Phe15Leu, NP_001355841.1:p.Phe15Leu, NP_001297087.1:p.Phe15Leu, NP_001355844.1:p.Phe15Leu, NP_001355846.1:p.Phe15Leu, NP_001355851.1:p.Phe15Leu, NP_001355856.1:p.Phe15Leu, NP_001355843.1:p.Phe15Leu, NP_001355842.1:p.Phe15Leu, NP_001355852.1:p.Phe15Leu, NP_001355853.1:p.Phe15Leu, NP_001355845.1:p.Phe15Leu, NP_001355855.1:p.Phe15Leu, NP_001355854.1:p.Phe15Leu, NP_001355857.1:p.Phe15Leu, NP_001355818.1:p.Phe15Leu, NP_001355840.1:p.Phe16Leu, NP_001355850.1:p.Phe15Leu, NP_001297088.1:p.Phe15Leu

      3.

      rs1484473316 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:31794113 (GRCh38)
        11:31815661 (GRCh37)
        Canonical SPDI:
        NC_000011.10:31794112:C:T
        Gene:
        PAX6 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.31794113C>T, NC_000011.9:g.31815661C>T, NG_008679.1:g.28849G>A, NM_000280.6:c.684G>A, NM_000280.5:c.684G>A, NM_000280.4:c.684G>A, NM_001604.6:c.726G>A, NM_001604.5:c.726G>A, NM_001258462.3:c.726G>A, NM_001258462.2:c.726G>A, NM_001258462.1:c.726G>A, NM_001127612.3:c.684G>A, NM_001127612.2:c.684G>A, NM_001127612.1:c.684G>A, NM_001258465.3:c.684G>A, NM_001258465.2:c.684G>A, NM_001258465.1:c.684G>A, NM_001310161.3:c.276G>A, NM_001310161.2:c.276G>A, NM_001310161.1:c.276G>A, NM_001310160.2:c.276G>A, NM_001310160.1:c.276G>A, NM_001368902.2:c.276G>A, NM_001368902.1:c.276G>A, NM_001368903.2:c.276G>A, NM_001368903.1:c.276G>A, NM_001368907.2:c.276G>A, NM_001368907.1:c.276G>A, NM_001368905.2:c.276G>A, NM_001368905.1:c.276G>A, NM_001368906.2:c.276G>A, NM_001368906.1:c.276G>A, NM_001368929.2:c.276G>A, NM_001368929.1:c.276G>A, NM_001368910.2:c.927G>A, NM_001368910.1:c.927G>A, NM_001368919.2:c.801G>A, NM_001368919.1:c.801G>A, NM_001368894.2:c.726G>A, NM_001368894.1:c.726G>A, NM_001368887.2:c.684G>A, NM_001368887.1:c.684G>A, NM_001368918.2:c.801G>A, NM_001368918.1:c.801G>A, NM_001368893.2:c.726G>A, NM_001368893.1:c.726G>A, NM_001368920.2:c.759G>A, NM_001368920.1:c.759G>A, NM_001258463.2:c.726G>A, NM_001258463.1:c.726G>A, NM_001368890.2:c.684G>A, NM_001368890.1:c.684G>A, NM_001368892.2:c.726G>A, NM_001368892.1:c.726G>A, NM_001368891.2:c.684G>A, NM_001368891.1:c.684G>A, NM_001368888.2:c.684G>A, NM_001368888.1:c.684G>A, NM_001258464.2:c.684G>A, NM_001258464.1:c.684G>A, NM_001368912.2:c.726G>A, NM_001368912.1:c.726G>A, NM_001310158.2:c.726G>A, NM_001310158.1:c.726G>A, NM_001368915.2:c.684G>A, NM_001368915.1:c.684G>A, NM_001368917.2:c.684G>A, NM_001368917.1:c.684G>A, NM_001368922.2:c.525G>A, NM_001368922.1:c.525G>A, NM_001368927.2:c.525G>A, NM_001368927.1:c.525G>A, NM_001368914.2:c.726G>A, NM_001368914.1:c.726G>A, NM_001368913.2:c.726G>A, NM_001368913.1:c.726G>A, NM_001368923.2:c.525G>A, NM_001368923.1:c.525G>A, NM_001368900.2:c.276G>A, NM_001368900.1:c.276G>A, NM_001368924.2:c.525G>A, NM_001368924.1:c.525G>A, NM_001368904.2:c.276G>A, NM_001368904.1:c.276G>A, NM_001368916.2:c.684G>A, NM_001368916.1:c.684G>A, NM_001368926.2:c.525G>A, NM_001368926.1:c.525G>A, NM_001368899.2:c.276G>A, NM_001368899.1:c.276G>A, NM_001368925.2:c.525G>A, NM_001368925.1:c.525G>A, NM_001368928.2:c.483G>A, NM_001368928.1:c.483G>A, NM_001368908.2:c.276G>A, NM_001368908.1:c.276G>A, NM_001368889.2:c.684G>A, NM_001368889.1:c.684G>A, NM_001368911.2:c.729G>A, NM_001368911.1:c.729G>A, NM_001368921.2:c.525G>A, NM_001368921.1:c.525G>A, NM_001368909.2:c.276G>A, NM_001368909.1:c.276G>A, NM_001368901.2:c.276G>A, NM_001368901.1:c.276G>A, NM_001368930.2:c.81G>A, NM_001368930.1:c.81G>A, NM_001310159.1:c.684G>A

        4.

        rs1484443521 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          11:31790860 (GRCh38)
          11:31812408 (GRCh37)
          Canonical SPDI:
          NC_000011.10:31790859:G:A,NC_000011.10:31790859:G:C,NC_000011.10:31790859:G:T
          Gene:
          PAX6 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000051/1 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000011.10:g.31790860G>A, NC_000011.10:g.31790860G>C, NC_000011.10:g.31790860G>T, NC_000011.9:g.31812408G>A, NC_000011.9:g.31812408G>C, NC_000011.9:g.31812408G>T, NG_008679.1:g.32102C>T, NG_008679.1:g.32102C>G, NG_008679.1:g.32102C>A, NM_000280.6:c.1033C>T, NM_000280.6:c.1033C>G, NM_000280.6:c.1033C>A, NM_000280.5:c.1033C>T, NM_000280.5:c.1033C>G, NM_000280.5:c.1033C>A, NM_000280.4:c.1033C>T, NM_000280.4:c.1033C>G, NM_000280.4:c.1033C>A, NM_001604.6:c.1075C>T, NM_001604.6:c.1075C>G, NM_001604.6:c.1075C>A, NM_001604.5:c.1075C>T, NM_001604.5:c.1075C>G, NM_001604.5:c.1075C>A, NM_001258462.3:c.1075C>T, NM_001258462.3:c.1075C>G, NM_001258462.3:c.1075C>A, NM_001258462.2:c.1075C>T, NM_001258462.2:c.1075C>G, NM_001258462.2:c.1075C>A, NM_001258462.1:c.1075C>T, NM_001258462.1:c.1075C>G, NM_001258462.1:c.1075C>A, NM_001127612.3:c.1033C>T, NM_001127612.3:c.1033C>G, NM_001127612.3:c.1033C>A, NM_001127612.2:c.1033C>T, NM_001127612.2:c.1033C>G, NM_001127612.2:c.1033C>A, NM_001127612.1:c.1033C>T, NM_001127612.1:c.1033C>G, NM_001127612.1:c.1033C>A, NM_001258465.3:c.1033C>T, NM_001258465.3:c.1033C>G, NM_001258465.3:c.1033C>A, NM_001258465.2:c.1033C>T, NM_001258465.2:c.1033C>G, NM_001258465.2:c.1033C>A, NM_001258465.1:c.1033C>T, NM_001258465.1:c.1033C>G, NM_001258465.1:c.1033C>A, NM_001310161.3:c.625C>T, NM_001310161.3:c.625C>G, NM_001310161.3:c.625C>A, NM_001310161.2:c.625C>T, NM_001310161.2:c.625C>G, NM_001310161.2:c.625C>A, NM_001310161.1:c.625C>T, NM_001310161.1:c.625C>G, NM_001310161.1:c.625C>A, NM_001310160.2:c.625C>T, NM_001310160.2:c.625C>G, NM_001310160.2:c.625C>A, NM_001310160.1:c.625C>T, NM_001310160.1:c.625C>G, NM_001310160.1:c.625C>A, NM_001368902.2:c.625C>T, NM_001368902.2:c.625C>G, NM_001368902.2:c.625C>A, NM_001368902.1:c.625C>T, NM_001368902.1:c.625C>G, NM_001368902.1:c.625C>A, NM_001368903.2:c.625C>T, NM_001368903.2:c.625C>G, NM_001368903.2:c.625C>A, NM_001368903.1:c.625C>T, NM_001368903.1:c.625C>G, NM_001368903.1:c.625C>A, NM_001368907.2:c.625C>T, NM_001368907.2:c.625C>G, NM_001368907.2:c.625C>A, NM_001368907.1:c.625C>T, NM_001368907.1:c.625C>G, NM_001368907.1:c.625C>A, NM_001368905.2:c.625C>T, NM_001368905.2:c.625C>G, NM_001368905.2:c.625C>A, NM_001368905.1:c.625C>T, NM_001368905.1:c.625C>G, NM_001368905.1:c.625C>A, NM_001368906.2:c.625C>T, NM_001368906.2:c.625C>G, NM_001368906.2:c.625C>A, NM_001368906.1:c.625C>T, NM_001368906.1:c.625C>G, NM_001368906.1:c.625C>A, NM_001368910.2:c.1276C>T, NM_001368910.2:c.1276C>G, NM_001368910.2:c.1276C>A, NM_001368910.1:c.1276C>T, NM_001368910.1:c.1276C>G, NM_001368910.1:c.1276C>A, NM_001368919.2:c.1150C>T, NM_001368919.2:c.1150C>G, NM_001368919.2:c.1150C>A, NM_001368919.1:c.1150C>T, NM_001368919.1:c.1150C>G, NM_001368919.1:c.1150C>A, NM_001368894.2:c.1075C>T, NM_001368894.2:c.1075C>G, NM_001368894.2:c.1075C>A, NM_001368894.1:c.1075C>T, NM_001368894.1:c.1075C>G, NM_001368894.1:c.1075C>A, NM_001368887.2:c.1033C>T, NM_001368887.2:c.1033C>G, NM_001368887.2:c.1033C>A, NM_001368887.1:c.1033C>T, NM_001368887.1:c.1033C>G, NM_001368887.1:c.1033C>A, NM_001368918.2:c.1150C>T, NM_001368918.2:c.1150C>G, NM_001368918.2:c.1150C>A, NM_001368918.1:c.1150C>T, NM_001368918.1:c.1150C>G, NM_001368918.1:c.1150C>A, NM_001368893.2:c.1075C>T, NM_001368893.2:c.1075C>G, NM_001368893.2:c.1075C>A, NM_001368893.1:c.1075C>T, NM_001368893.1:c.1075C>G, NM_001368893.1:c.1075C>A, NM_001368920.2:c.1108C>T, NM_001368920.2:c.1108C>G, NM_001368920.2:c.1108C>A, NM_001368920.1:c.1108C>T, NM_001368920.1:c.1108C>G, NM_001368920.1:c.1108C>A, NM_001258463.2:c.1075C>T, NM_001258463.2:c.1075C>G, NM_001258463.2:c.1075C>A, NM_001258463.1:c.1075C>T, NM_001258463.1:c.1075C>G, NM_001258463.1:c.1075C>A, NM_001368890.2:c.1033C>T, NM_001368890.2:c.1033C>G, NM_001368890.2:c.1033C>A, NM_001368890.1:c.1033C>T, NM_001368890.1:c.1033C>G, NM_001368890.1:c.1033C>A, NM_001368892.2:c.1075C>T, NM_001368892.2:c.1075C>G, NM_001368892.2:c.1075C>A, NM_001368892.1:c.1075C>T, NM_001368892.1:c.1075C>G, NM_001368892.1:c.1075C>A, NM_001368891.2:c.1033C>T, NM_001368891.2:c.1033C>G, NM_001368891.2:c.1033C>A, NM_001368891.1:c.1033C>T, NM_001368891.1:c.1033C>G, NM_001368891.1:c.1033C>A, NM_001368888.2:c.1033C>T, NM_001368888.2:c.1033C>G, NM_001368888.2:c.1033C>A, NM_001368888.1:c.1033C>T, NM_001368888.1:c.1033C>G, NM_001368888.1:c.1033C>A, NM_001258464.2:c.1033C>T, NM_001258464.2:c.1033C>G, NM_001258464.2:c.1033C>A, NM_001258464.1:c.1033C>T, NM_001258464.1:c.1033C>G, NM_001258464.1:c.1033C>A, NM_001310158.2:c.1075C>T, NM_001310158.2:c.1075C>G, NM_001310158.2:c.1075C>A, NM_001310158.1:c.1075C>T, NM_001310158.1:c.1075C>G, NM_001310158.1:c.1075C>A, NR_160917.2:n.1419C>T, NR_160917.2:n.1419C>G, NR_160917.2:n.1419C>A, NR_160917.1:n.1419C>T, NR_160917.1:n.1419C>G, NR_160917.1:n.1419C>A, NM_001368922.2:c.874C>T, NM_001368922.2:c.874C>G, NM_001368922.2:c.874C>A, NM_001368922.1:c.874C>T, NM_001368922.1:c.874C>G, NM_001368922.1:c.874C>A, NM_001368927.2:c.874C>T, NM_001368927.2:c.874C>G, NM_001368927.2:c.874C>A, NM_001368927.1:c.874C>T, NM_001368927.1:c.874C>G, NM_001368927.1:c.874C>A, NM_001368923.2:c.874C>T, NM_001368923.2:c.874C>G, NM_001368923.2:c.874C>A, NM_001368923.1:c.874C>T, NM_001368923.1:c.874C>G, NM_001368923.1:c.874C>A, NM_001368900.2:c.625C>T, NM_001368900.2:c.625C>G, NM_001368900.2:c.625C>A, NM_001368900.1:c.625C>T, NM_001368900.1:c.625C>G, NM_001368900.1:c.625C>A, NM_001368924.2:c.874C>T, NM_001368924.2:c.874C>G, NM_001368924.2:c.874C>A, NM_001368924.1:c.874C>T, NM_001368924.1:c.874C>G, NM_001368924.1:c.874C>A, NM_001368904.2:c.625C>T, NM_001368904.2:c.625C>G, NM_001368904.2:c.625C>A, NM_001368904.1:c.625C>T, NM_001368904.1:c.625C>G, NM_001368904.1:c.625C>A, NM_001368926.2:c.874C>T, NM_001368926.2:c.874C>G, NM_001368926.2:c.874C>A, NM_001368926.1:c.874C>T, NM_001368926.1:c.874C>G, NM_001368926.1:c.874C>A, NM_001368899.2:c.625C>T, NM_001368899.2:c.625C>G, NM_001368899.2:c.625C>A, NM_001368899.1:c.625C>T, NM_001368899.1:c.625C>G, NM_001368899.1:c.625C>A, NM_001368925.2:c.874C>T, NM_001368925.2:c.874C>G, NM_001368925.2:c.874C>A, NM_001368925.1:c.874C>T, NM_001368925.1:c.874C>G, NM_001368925.1:c.874C>A, NM_001368928.2:c.832C>T, NM_001368928.2:c.832C>G, NM_001368928.2:c.832C>A, NM_001368928.1:c.832C>T, NM_001368928.1:c.832C>G, NM_001368928.1:c.832C>A, NM_001368908.2:c.625C>T, NM_001368908.2:c.625C>G, NM_001368908.2:c.625C>A, NM_001368908.1:c.625C>T, NM_001368908.1:c.625C>G, NM_001368908.1:c.625C>A, NM_001368889.2:c.1033C>T, NM_001368889.2:c.1033C>G, NM_001368889.2:c.1033C>A, NM_001368889.1:c.1033C>T, NM_001368889.1:c.1033C>G, NM_001368889.1:c.1033C>A, NM_001368909.2:c.625C>T, NM_001368909.2:c.625C>G, NM_001368909.2:c.625C>A, NM_001368909.1:c.625C>T, NM_001368909.1:c.625C>G, NM_001368909.1:c.625C>A, NM_001368901.2:c.625C>T, NM_001368901.2:c.625C>G, NM_001368901.2:c.625C>A, NM_001368901.1:c.625C>T, NM_001368901.1:c.625C>G, NM_001368901.1:c.625C>A, NM_001368930.2:c.430C>T, NM_001368930.2:c.430C>G, NM_001368930.2:c.430C>A, NM_001368930.1:c.430C>T, NM_001368930.1:c.430C>G, NM_001368930.1:c.430C>A, NP_000271.1:p.Pro345Ser, NP_000271.1:p.Pro345Ala, NP_000271.1:p.Pro345Thr, NP_001595.2:p.Pro359Ser, NP_001595.2:p.Pro359Ala, NP_001595.2:p.Pro359Thr, NP_001245391.1:p.Pro359Ser, NP_001245391.1:p.Pro359Ala, NP_001245391.1:p.Pro359Thr, NP_001121084.1:p.Pro345Ser, NP_001121084.1:p.Pro345Ala, NP_001121084.1:p.Pro345Thr, NP_001245394.1:p.Pro345Ser, NP_001245394.1:p.Pro345Ala, NP_001245394.1:p.Pro345Thr, NP_001297090.1:p.Pro209Ser, NP_001297090.1:p.Pro209Ala, NP_001297090.1:p.Pro209Thr, NP_001297089.1:p.Pro209Ser, NP_001297089.1:p.Pro209Ala, NP_001297089.1:p.Pro209Thr, NP_001355831.1:p.Pro209Ser, NP_001355831.1:p.Pro209Ala, NP_001355831.1:p.Pro209Thr, NP_001355832.1:p.Pro209Ser, NP_001355832.1:p.Pro209Ala, NP_001355832.1:p.Pro209Thr, NP_001355836.1:p.Pro209Ser, NP_001355836.1:p.Pro209Ala, NP_001355836.1:p.Pro209Thr, NP_001355834.1:p.Pro209Ser, NP_001355834.1:p.Pro209Ala, NP_001355834.1:p.Pro209Thr, NP_001355835.1:p.Pro209Ser, NP_001355835.1:p.Pro209Ala, NP_001355835.1:p.Pro209Thr, NP_001355839.1:p.Pro426Ser, NP_001355839.1:p.Pro426Ala, NP_001355839.1:p.Pro426Thr, NP_001355848.1:p.Pro384Ser, NP_001355848.1:p.Pro384Ala, NP_001355848.1:p.Pro384Thr, NP_001355823.1:p.Pro359Ser, NP_001355823.1:p.Pro359Ala, NP_001355823.1:p.Pro359Thr, NP_001355816.1:p.Pro345Ser, NP_001355816.1:p.Pro345Ala, NP_001355816.1:p.Pro345Thr, NP_001355847.1:p.Pro384Ser, NP_001355847.1:p.Pro384Ala, NP_001355847.1:p.Pro384Thr, NP_001355822.1:p.Pro359Ser, NP_001355822.1:p.Pro359Ala, NP_001355822.1:p.Pro359Thr, NP_001355849.1:p.Pro370Ser, NP_001355849.1:p.Pro370Ala, NP_001355849.1:p.Pro370Thr, NP_001245392.1:p.Pro359Ser, NP_001245392.1:p.Pro359Ala, NP_001245392.1:p.Pro359Thr, NP_001355819.1:p.Pro345Ser, NP_001355819.1:p.Pro345Ala, NP_001355819.1:p.Pro345Thr, NP_001355821.1:p.Pro359Ser, NP_001355821.1:p.Pro359Ala, NP_001355821.1:p.Pro359Thr, NP_001355820.1:p.Pro345Ser, NP_001355820.1:p.Pro345Ala, NP_001355820.1:p.Pro345Thr, NP_001355817.1:p.Pro345Ser, NP_001355817.1:p.Pro345Ala, NP_001355817.1:p.Pro345Thr, NP_001245393.1:p.Pro345Ser, NP_001245393.1:p.Pro345Ala, NP_001245393.1:p.Pro345Thr, NP_001297087.1:p.Pro359Ser, NP_001297087.1:p.Pro359Ala, NP_001297087.1:p.Pro359Thr, NP_001355851.1:p.Pro292Ser, NP_001355851.1:p.Pro292Ala, NP_001355851.1:p.Pro292Thr, NP_001355856.1:p.Pro292Ser, NP_001355856.1:p.Pro292Ala, NP_001355856.1:p.Pro292Thr, NP_001355852.1:p.Pro292Ser, NP_001355852.1:p.Pro292Ala, NP_001355852.1:p.Pro292Thr, NP_001355829.1:p.Pro209Ser, NP_001355829.1:p.Pro209Ala, NP_001355829.1:p.Pro209Thr, NP_001355853.1:p.Pro292Ser, NP_001355853.1:p.Pro292Ala, NP_001355853.1:p.Pro292Thr, NP_001355833.1:p.Pro209Ser, NP_001355833.1:p.Pro209Ala, NP_001355833.1:p.Pro209Thr, NP_001355855.1:p.Pro292Ser, NP_001355855.1:p.Pro292Ala, NP_001355855.1:p.Pro292Thr, NP_001355828.1:p.Pro209Ser, NP_001355828.1:p.Pro209Ala, NP_001355828.1:p.Pro209Thr, NP_001355854.1:p.Pro292Ser, NP_001355854.1:p.Pro292Ala, NP_001355854.1:p.Pro292Thr, NP_001355857.1:p.Pro278Ser, NP_001355857.1:p.Pro278Ala, NP_001355857.1:p.Pro278Thr, NP_001355837.1:p.Pro209Ser, NP_001355837.1:p.Pro209Ala, NP_001355837.1:p.Pro209Thr, NP_001355818.1:p.Pro345Ser, NP_001355818.1:p.Pro345Ala, NP_001355818.1:p.Pro345Thr, NP_001355838.1:p.Pro209Ser, NP_001355838.1:p.Pro209Ala, NP_001355838.1:p.Pro209Thr, NP_001355830.1:p.Pro209Ser, NP_001355830.1:p.Pro209Ala, NP_001355830.1:p.Pro209Thr, NP_001355859.1:p.Pro144Ser, NP_001355859.1:p.Pro144Ala, NP_001355859.1:p.Pro144Thr

          5.

          rs1482091141 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            11:31801875 (GRCh38)
            11:31823423 (GRCh37)
            Canonical SPDI:
            NC_000011.10:31801874:T:C
            Gene:
            PAX6 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000094/1 (ALFA)
            C=0.000015/4 (TOPMED)
            C=0.00002/5 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.31801875T>C, NC_000011.9:g.31823423T>C, NG_008679.1:g.21087A>G, NM_001604.6:c.179A>G, NM_001604.5:c.179A>G, NM_001258462.3:c.179A>G, NM_001258462.2:c.179A>G, NM_001258462.1:c.179A>G, NM_001310161.3:c.-272A>G, NM_001310161.2:c.-272A>G, NM_001310161.1:c.-272A>G, NM_001310160.2:c.-603A>G, NM_001310160.1:c.-603A>G, NM_001368903.2:c.-272A>G, NM_001368903.1:c.-272A>G, NM_001368905.2:c.-603A>G, NM_001368905.1:c.-603A>G, NM_001368929.2:c.-272A>G, NM_001368929.1:c.-272A>G, NM_001368919.2:c.254A>G, NM_001368919.1:c.254A>G, NM_001368894.2:c.179A>G, NM_001368894.1:c.179A>G, NM_001368918.2:c.254A>G, NM_001368918.1:c.254A>G, NM_001368893.2:c.179A>G, NM_001368893.1:c.179A>G, NM_001258463.2:c.179A>G, NM_001258463.1:c.179A>G, NM_001368892.2:c.179A>G, NM_001368892.1:c.179A>G, NM_001368912.2:c.179A>G, NM_001368912.1:c.179A>G, NM_001310158.2:c.179A>G, NM_001310158.1:c.179A>G, NM_001368922.2:c.179A>G, NM_001368922.1:c.179A>G, NM_001368927.2:c.179A>G, NM_001368927.1:c.179A>G, NM_001368914.2:c.179A>G, NM_001368914.1:c.179A>G, NM_001368913.2:c.179A>G, NM_001368913.1:c.179A>G, NM_001368923.2:c.179A>G, NM_001368923.1:c.179A>G, NM_001368900.2:c.-272A>G, NM_001368900.1:c.-272A>G, NM_001368924.2:c.179A>G, NM_001368924.1:c.179A>G, NM_001368926.2:c.179A>G, NM_001368926.1:c.179A>G, NM_001368925.2:c.179A>G, NM_001368925.1:c.179A>G, NR_160916.2:n.601A>G, NR_160916.1:n.601A>G, NM_001368908.2:c.-272A>G, NM_001368908.1:c.-272A>G, NM_001368911.2:c.182A>G, NM_001368911.1:c.182A>G, NM_001368921.2:c.179A>G, NM_001368921.1:c.179A>G, NP_001595.2:p.Gln60Arg, NP_001245391.1:p.Gln60Arg, NP_001355848.1:p.Gln85Arg, NP_001355823.1:p.Gln60Arg, NP_001355847.1:p.Gln85Arg, NP_001355822.1:p.Gln60Arg, NP_001245392.1:p.Gln60Arg, NP_001355821.1:p.Gln60Arg, NP_001355841.1:p.Gln60Arg, NP_001297087.1:p.Gln60Arg, NP_001355851.1:p.Gln60Arg, NP_001355856.1:p.Gln60Arg, NP_001355843.1:p.Gln60Arg, NP_001355842.1:p.Gln60Arg, NP_001355852.1:p.Gln60Arg, NP_001355853.1:p.Gln60Arg, NP_001355855.1:p.Gln60Arg, NP_001355854.1:p.Gln60Arg, NP_001355840.1:p.Gln61Arg, NP_001355850.1:p.Gln60Arg

            6.

            rs1474010002 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              11:31790770 (GRCh38)
              11:31812318 (GRCh37)
              Canonical SPDI:
              NC_000011.10:31790769:G:A,NC_000011.10:31790769:G:C
              Gene:
              PAX6 (Varview), ELP4 (Varview)
              Functional Consequence:
              intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000051/1 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000011.10:g.31790770G>A, NC_000011.10:g.31790770G>C, NC_000011.9:g.31812318G>A, NC_000011.9:g.31812318G>C, NG_008679.1:g.32192C>T, NG_008679.1:g.32192C>G, NM_000280.6:c.1123C>T, NM_000280.6:c.1123C>G, NM_000280.5:c.1123C>T, NM_000280.5:c.1123C>G, NM_000280.4:c.1123C>T, NM_000280.4:c.1123C>G, NM_001604.6:c.1165C>T, NM_001604.6:c.1165C>G, NM_001604.5:c.1165C>T, NM_001604.5:c.1165C>G, NM_001258462.3:c.1165C>T, NM_001258462.3:c.1165C>G, NM_001258462.2:c.1165C>T, NM_001258462.2:c.1165C>G, NM_001258462.1:c.1165C>T, NM_001258462.1:c.1165C>G, NM_001127612.3:c.1123C>T, NM_001127612.3:c.1123C>G, NM_001127612.2:c.1123C>T, NM_001127612.2:c.1123C>G, NM_001127612.1:c.1123C>T, NM_001127612.1:c.1123C>G, NM_001258465.3:c.1123C>T, NM_001258465.3:c.1123C>G, NM_001258465.2:c.1123C>T, NM_001258465.2:c.1123C>G, NM_001258465.1:c.1123C>T, NM_001258465.1:c.1123C>G, NM_001310161.3:c.715C>T, NM_001310161.3:c.715C>G, NM_001310161.2:c.715C>T, NM_001310161.2:c.715C>G, NM_001310161.1:c.715C>T, NM_001310161.1:c.715C>G, NM_001310160.2:c.715C>T, NM_001310160.2:c.715C>G, NM_001310160.1:c.715C>T, NM_001310160.1:c.715C>G, NM_001368902.2:c.715C>T, NM_001368902.2:c.715C>G, NM_001368902.1:c.715C>T, NM_001368902.1:c.715C>G, NM_001368903.2:c.715C>T, NM_001368903.2:c.715C>G, NM_001368903.1:c.715C>T, NM_001368903.1:c.715C>G, NM_001368907.2:c.715C>T, NM_001368907.2:c.715C>G, NM_001368907.1:c.715C>T, NM_001368907.1:c.715C>G, NM_001368905.2:c.715C>T, NM_001368905.2:c.715C>G, NM_001368905.1:c.715C>T, NM_001368905.1:c.715C>G, NM_001368906.2:c.715C>T, NM_001368906.2:c.715C>G, NM_001368906.1:c.715C>T, NM_001368906.1:c.715C>G, NM_001368910.2:c.1366C>T, NM_001368910.2:c.1366C>G, NM_001368910.1:c.1366C>T, NM_001368910.1:c.1366C>G, NM_001368919.2:c.1240C>T, NM_001368919.2:c.1240C>G, NM_001368919.1:c.1240C>T, NM_001368919.1:c.1240C>G, NM_001368894.2:c.1165C>T, NM_001368894.2:c.1165C>G, NM_001368894.1:c.1165C>T, NM_001368894.1:c.1165C>G, NM_001368887.2:c.1123C>T, NM_001368887.2:c.1123C>G, NM_001368887.1:c.1123C>T, NM_001368887.1:c.1123C>G, NM_001368918.2:c.1240C>T, NM_001368918.2:c.1240C>G, NM_001368918.1:c.1240C>T, NM_001368918.1:c.1240C>G, NM_001368893.2:c.1165C>T, NM_001368893.2:c.1165C>G, NM_001368893.1:c.1165C>T, NM_001368893.1:c.1165C>G, NM_001368920.2:c.1198C>T, NM_001368920.2:c.1198C>G, NM_001368920.1:c.1198C>T, NM_001368920.1:c.1198C>G, NM_001258463.2:c.1165C>T, NM_001258463.2:c.1165C>G, NM_001258463.1:c.1165C>T, NM_001258463.1:c.1165C>G, NM_001368890.2:c.1123C>T, NM_001368890.2:c.1123C>G, NM_001368890.1:c.1123C>T, NM_001368890.1:c.1123C>G, NM_001368892.2:c.1165C>T, NM_001368892.2:c.1165C>G, NM_001368892.1:c.1165C>T, NM_001368892.1:c.1165C>G, NM_001368891.2:c.1123C>T, NM_001368891.2:c.1123C>G, NM_001368891.1:c.1123C>T, NM_001368891.1:c.1123C>G, NM_001368888.2:c.1123C>T, NM_001368888.2:c.1123C>G, NM_001368888.1:c.1123C>T, NM_001368888.1:c.1123C>G, NM_001258464.2:c.1123C>T, NM_001258464.2:c.1123C>G, NM_001258464.1:c.1123C>T, NM_001258464.1:c.1123C>G, NM_001310158.2:c.1165C>T, NM_001310158.2:c.1165C>G, NM_001310158.1:c.1165C>T, NM_001310158.1:c.1165C>G, NR_160917.2:n.1509C>T, NR_160917.2:n.1509C>G, NR_160917.1:n.1509C>T, NR_160917.1:n.1509C>G, NM_001368922.2:c.964C>T, NM_001368922.2:c.964C>G, NM_001368922.1:c.964C>T, NM_001368922.1:c.964C>G, NM_001368927.2:c.964C>T, NM_001368927.2:c.964C>G, NM_001368927.1:c.964C>T, NM_001368927.1:c.964C>G, NM_001368923.2:c.964C>T, NM_001368923.2:c.964C>G, NM_001368923.1:c.964C>T, NM_001368923.1:c.964C>G, NM_001368900.2:c.715C>T, NM_001368900.2:c.715C>G, NM_001368900.1:c.715C>T, NM_001368900.1:c.715C>G, NM_001368924.2:c.964C>T, NM_001368924.2:c.964C>G, NM_001368924.1:c.964C>T, NM_001368924.1:c.964C>G, NM_001368904.2:c.715C>T, NM_001368904.2:c.715C>G, NM_001368904.1:c.715C>T, NM_001368904.1:c.715C>G, NM_001368926.2:c.964C>T, NM_001368926.2:c.964C>G, NM_001368926.1:c.964C>T, NM_001368926.1:c.964C>G, NM_001368899.2:c.715C>T, NM_001368899.2:c.715C>G, NM_001368899.1:c.715C>T, NM_001368899.1:c.715C>G, NM_001368925.2:c.964C>T, NM_001368925.2:c.964C>G, NM_001368925.1:c.964C>T, NM_001368925.1:c.964C>G, NM_001368928.2:c.922C>T, NM_001368928.2:c.922C>G, NM_001368928.1:c.922C>T, NM_001368928.1:c.922C>G, NM_001368908.2:c.715C>T, NM_001368908.2:c.715C>G, NM_001368908.1:c.715C>T, NM_001368908.1:c.715C>G, NM_001368889.2:c.1123C>T, NM_001368889.2:c.1123C>G, NM_001368889.1:c.1123C>T, NM_001368889.1:c.1123C>G, NM_001368909.2:c.715C>T, NM_001368909.2:c.715C>G, NM_001368909.1:c.715C>T, NM_001368909.1:c.715C>G, NM_001368901.2:c.715C>T, NM_001368901.2:c.715C>G, NM_001368901.1:c.715C>T, NM_001368901.1:c.715C>G, NM_001368930.2:c.520C>T, NM_001368930.2:c.520C>G, NM_001368930.1:c.520C>T, NM_001368930.1:c.520C>G, NP_000271.1:p.Pro375Ser, NP_000271.1:p.Pro375Ala, NP_001595.2:p.Pro389Ser, NP_001595.2:p.Pro389Ala, NP_001245391.1:p.Pro389Ser, NP_001245391.1:p.Pro389Ala, NP_001121084.1:p.Pro375Ser, NP_001121084.1:p.Pro375Ala, NP_001245394.1:p.Pro375Ser, NP_001245394.1:p.Pro375Ala, NP_001297090.1:p.Pro239Ser, NP_001297090.1:p.Pro239Ala, NP_001297089.1:p.Pro239Ser, NP_001297089.1:p.Pro239Ala, NP_001355831.1:p.Pro239Ser, NP_001355831.1:p.Pro239Ala, NP_001355832.1:p.Pro239Ser, NP_001355832.1:p.Pro239Ala, NP_001355836.1:p.Pro239Ser, NP_001355836.1:p.Pro239Ala, NP_001355834.1:p.Pro239Ser, NP_001355834.1:p.Pro239Ala, NP_001355835.1:p.Pro239Ser, NP_001355835.1:p.Pro239Ala, NP_001355839.1:p.Pro456Ser, NP_001355839.1:p.Pro456Ala, NP_001355848.1:p.Pro414Ser, NP_001355848.1:p.Pro414Ala, NP_001355823.1:p.Pro389Ser, NP_001355823.1:p.Pro389Ala, NP_001355816.1:p.Pro375Ser, NP_001355816.1:p.Pro375Ala, NP_001355847.1:p.Pro414Ser, NP_001355847.1:p.Pro414Ala, NP_001355822.1:p.Pro389Ser, NP_001355822.1:p.Pro389Ala, NP_001355849.1:p.Pro400Ser, NP_001355849.1:p.Pro400Ala, NP_001245392.1:p.Pro389Ser, NP_001245392.1:p.Pro389Ala, NP_001355819.1:p.Pro375Ser, NP_001355819.1:p.Pro375Ala, NP_001355821.1:p.Pro389Ser, NP_001355821.1:p.Pro389Ala, NP_001355820.1:p.Pro375Ser, NP_001355820.1:p.Pro375Ala, NP_001355817.1:p.Pro375Ser, NP_001355817.1:p.Pro375Ala, NP_001245393.1:p.Pro375Ser, NP_001245393.1:p.Pro375Ala, NP_001297087.1:p.Pro389Ser, NP_001297087.1:p.Pro389Ala, NP_001355851.1:p.Pro322Ser, NP_001355851.1:p.Pro322Ala, NP_001355856.1:p.Pro322Ser, NP_001355856.1:p.Pro322Ala, NP_001355852.1:p.Pro322Ser, NP_001355852.1:p.Pro322Ala, NP_001355829.1:p.Pro239Ser, NP_001355829.1:p.Pro239Ala, NP_001355853.1:p.Pro322Ser, NP_001355853.1:p.Pro322Ala, NP_001355833.1:p.Pro239Ser, NP_001355833.1:p.Pro239Ala, NP_001355855.1:p.Pro322Ser, NP_001355855.1:p.Pro322Ala, NP_001355828.1:p.Pro239Ser, NP_001355828.1:p.Pro239Ala, NP_001355854.1:p.Pro322Ser, NP_001355854.1:p.Pro322Ala, NP_001355857.1:p.Pro308Ser, NP_001355857.1:p.Pro308Ala, NP_001355837.1:p.Pro239Ser, NP_001355837.1:p.Pro239Ala, NP_001355818.1:p.Pro375Ser, NP_001355818.1:p.Pro375Ala, NP_001355838.1:p.Pro239Ser, NP_001355838.1:p.Pro239Ala, NP_001355830.1:p.Pro239Ser, NP_001355830.1:p.Pro239Ala, NP_001355859.1:p.Pro174Ser, NP_001355859.1:p.Pro174Ala

              7.

              rs1469000555 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:31800770 (GRCh38)
                11:31822318 (GRCh37)
                Canonical SPDI:
                NC_000011.10:31800769:C:T
                Gene:
                PAX6 (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000011.10:g.31800770C>T, NC_000011.9:g.31822318C>T, NG_008679.1:g.22192G>A, NM_000280.6:c.444G>A, NM_000280.5:c.444G>A, NM_000280.4:c.444G>A, NM_001604.6:c.486G>A, NM_001604.5:c.486G>A, NM_001258462.3:c.486G>A, NM_001258462.2:c.486G>A, NM_001258462.1:c.486G>A, NM_001127612.3:c.444G>A, NM_001127612.2:c.444G>A, NM_001127612.1:c.444G>A, NM_001258465.3:c.444G>A, NM_001258465.2:c.444G>A, NM_001258465.1:c.444G>A, NM_001310161.3:c.36G>A, NM_001310161.2:c.36G>A, NM_001310161.1:c.36G>A, NM_001310160.2:c.36G>A, NM_001310160.1:c.36G>A, NM_001368902.2:c.36G>A, NM_001368902.1:c.36G>A, NM_001368903.2:c.36G>A, NM_001368903.1:c.36G>A, NM_001368907.2:c.36G>A, NM_001368907.1:c.36G>A, NM_001368905.2:c.36G>A, NM_001368905.1:c.36G>A, NM_001368906.2:c.36G>A, NM_001368906.1:c.36G>A, NM_001368929.2:c.36G>A, NM_001368929.1:c.36G>A, NM_001368910.2:c.687G>A, NM_001368910.1:c.687G>A, NM_001368919.2:c.561G>A, NM_001368919.1:c.561G>A, NM_001368894.2:c.486G>A, NM_001368894.1:c.486G>A, NM_001368887.2:c.444G>A, NM_001368887.1:c.444G>A, NM_001368918.2:c.561G>A, NM_001368918.1:c.561G>A, NM_001368893.2:c.486G>A, NM_001368893.1:c.486G>A, NM_001368920.2:c.519G>A, NM_001368920.1:c.519G>A, NM_001258463.2:c.486G>A, NM_001258463.1:c.486G>A, NM_001368890.2:c.444G>A, NM_001368890.1:c.444G>A, NM_001368892.2:c.486G>A, NM_001368892.1:c.486G>A, NM_001368891.2:c.444G>A, NM_001368891.1:c.444G>A, NM_001368888.2:c.444G>A, NM_001368888.1:c.444G>A, NM_001258464.2:c.444G>A, NM_001258464.1:c.444G>A, NM_001368912.2:c.486G>A, NM_001368912.1:c.486G>A, NM_001310158.2:c.486G>A, NM_001310158.1:c.486G>A, NM_001368915.2:c.444G>A, NM_001368915.1:c.444G>A, NR_160917.2:n.913G>A, NR_160917.1:n.913G>A, NM_001368917.2:c.444G>A, NM_001368917.1:c.444G>A, NM_001368922.2:c.285G>A, NM_001368922.1:c.285G>A, NM_001368927.2:c.285G>A, NM_001368927.1:c.285G>A, NM_001368914.2:c.486G>A, NM_001368914.1:c.486G>A, NM_001368913.2:c.486G>A, NM_001368913.1:c.486G>A, NM_001368923.2:c.285G>A, NM_001368923.1:c.285G>A, NM_001368900.2:c.36G>A, NM_001368900.1:c.36G>A, NM_001368924.2:c.285G>A, NM_001368924.1:c.285G>A, NM_001368904.2:c.36G>A, NM_001368904.1:c.36G>A, NM_001368916.2:c.444G>A, NM_001368916.1:c.444G>A, NM_001368926.2:c.285G>A, NM_001368926.1:c.285G>A, NM_001368899.2:c.36G>A, NM_001368899.1:c.36G>A, NM_001368925.2:c.285G>A, NM_001368925.1:c.285G>A, NR_160916.2:n.908G>A, NR_160916.1:n.908G>A, NM_001368928.2:c.243G>A, NM_001368928.1:c.243G>A, NM_001368908.2:c.36G>A, NM_001368908.1:c.36G>A, NM_001368889.2:c.444G>A, NM_001368889.1:c.444G>A, NM_001368911.2:c.489G>A, NM_001368911.1:c.489G>A, NM_001368921.2:c.285G>A, NM_001368921.1:c.285G>A, NM_001368909.2:c.36G>A, NM_001368909.1:c.36G>A, NM_001368901.2:c.36G>A, NM_001368901.1:c.36G>A, NM_001310159.1:c.444G>A, NP_000271.1:p.Met148Ile, NP_001595.2:p.Met162Ile, NP_001245391.1:p.Met162Ile, NP_001121084.1:p.Met148Ile, NP_001245394.1:p.Met148Ile, NP_001297090.1:p.Met12Ile, NP_001297089.1:p.Met12Ile, NP_001355831.1:p.Met12Ile, NP_001355832.1:p.Met12Ile, NP_001355836.1:p.Met12Ile, NP_001355834.1:p.Met12Ile, NP_001355835.1:p.Met12Ile, NP_001355858.1:p.Met12Ile, NP_001355839.1:p.Met229Ile, NP_001355848.1:p.Met187Ile, NP_001355823.1:p.Met162Ile, NP_001355816.1:p.Met148Ile, NP_001355847.1:p.Met187Ile, NP_001355822.1:p.Met162Ile, NP_001355849.1:p.Met173Ile, NP_001245392.1:p.Met162Ile, NP_001355819.1:p.Met148Ile, NP_001355821.1:p.Met162Ile, NP_001355820.1:p.Met148Ile, NP_001355817.1:p.Met148Ile, NP_001245393.1:p.Met148Ile, NP_001355841.1:p.Met162Ile, NP_001297087.1:p.Met162Ile, NP_001355844.1:p.Met148Ile, NP_001355846.1:p.Met148Ile, NP_001355851.1:p.Met95Ile, NP_001355856.1:p.Met95Ile, NP_001355843.1:p.Met162Ile, NP_001355842.1:p.Met162Ile, NP_001355852.1:p.Met95Ile, NP_001355829.1:p.Met12Ile, NP_001355853.1:p.Met95Ile, NP_001355833.1:p.Met12Ile, NP_001355845.1:p.Met148Ile, NP_001355855.1:p.Met95Ile, NP_001355828.1:p.Met12Ile, NP_001355854.1:p.Met95Ile, NP_001355857.1:p.Met81Ile, NP_001355837.1:p.Met12Ile, NP_001355818.1:p.Met148Ile, NP_001355840.1:p.Met163Ile, NP_001355850.1:p.Met95Ile, NP_001355838.1:p.Met12Ile, NP_001355830.1:p.Met12Ile, NP_001297088.1:p.Met148Ile

                8.

                rs1465798693 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  11:31801661 (GRCh38)
                  11:31823209 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:31801660:T:C
                  Gene:
                  PAX6 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000011.10:g.31801661T>C, NC_000011.9:g.31823209T>C, NG_008679.1:g.21301A>G, NM_000280.6:c.257A>G, NM_000280.5:c.257A>G, NM_000280.4:c.257A>G, NM_001604.6:c.299A>G, NM_001604.5:c.299A>G, NM_001258462.3:c.299A>G, NM_001258462.2:c.299A>G, NM_001258462.1:c.299A>G, NM_001127612.3:c.257A>G, NM_001127612.2:c.257A>G, NM_001127612.1:c.257A>G, NM_001258465.3:c.257A>G, NM_001258465.2:c.257A>G, NM_001258465.1:c.257A>G, NM_001310161.3:c.-152A>G, NM_001310161.2:c.-152A>G, NM_001310161.1:c.-152A>G, NM_001310160.2:c.-483A>G, NM_001310160.1:c.-483A>G, NM_001368902.2:c.-483A>G, NM_001368902.1:c.-483A>G, NM_001368903.2:c.-152A>G, NM_001368903.1:c.-152A>G, NM_001368907.2:c.-152A>G, NM_001368907.1:c.-152A>G, NM_001368905.2:c.-483A>G, NM_001368905.1:c.-483A>G, NM_001368906.2:c.-152A>G, NM_001368906.1:c.-152A>G, NM_001368929.2:c.-152A>G, NM_001368929.1:c.-152A>G, NM_001368910.2:c.500A>G, NM_001368910.1:c.500A>G, NM_001368919.2:c.374A>G, NM_001368919.1:c.374A>G, NM_001368894.2:c.299A>G, NM_001368894.1:c.299A>G, NM_001368887.2:c.257A>G, NM_001368887.1:c.257A>G, NM_001368918.2:c.374A>G, NM_001368918.1:c.374A>G, NM_001368893.2:c.299A>G, NM_001368893.1:c.299A>G, NM_001368920.2:c.332A>G, NM_001368920.1:c.332A>G, NM_001258463.2:c.299A>G, NM_001258463.1:c.299A>G, NM_001368890.2:c.257A>G, NM_001368890.1:c.257A>G, NM_001368892.2:c.299A>G, NM_001368892.1:c.299A>G, NM_001368891.2:c.257A>G, NM_001368891.1:c.257A>G, NM_001368888.2:c.257A>G, NM_001368888.1:c.257A>G, NM_001258464.2:c.257A>G, NM_001258464.1:c.257A>G, NM_001368912.2:c.299A>G, NM_001368912.1:c.299A>G, NM_001310158.2:c.299A>G, NM_001310158.1:c.299A>G, NM_001368915.2:c.257A>G, NM_001368915.1:c.257A>G, NR_160917.2:n.726A>G, NR_160917.1:n.726A>G, NM_001368917.2:c.257A>G, NM_001368917.1:c.257A>G, NM_001368914.2:c.299A>G, NM_001368914.1:c.299A>G, NM_001368913.2:c.299A>G, NM_001368913.1:c.299A>G, NM_001368900.2:c.-152A>G, NM_001368900.1:c.-152A>G, NM_001368904.2:c.-152A>G, NM_001368904.1:c.-152A>G, NM_001368916.2:c.257A>G, NM_001368916.1:c.257A>G, NM_001368899.2:c.-152A>G, NM_001368899.1:c.-152A>G, NR_160916.2:n.721A>G, NR_160916.1:n.721A>G, NM_001368908.2:c.-152A>G, NM_001368908.1:c.-152A>G, NM_001368889.2:c.257A>G, NM_001368889.1:c.257A>G, NM_001368911.2:c.302A>G, NM_001368911.1:c.302A>G, NM_001368909.2:c.-152A>G, NM_001368909.1:c.-152A>G, NM_001368901.2:c.-152A>G, NM_001368901.1:c.-152A>G, NM_001310159.1:c.257A>G, NP_000271.1:p.Lys86Arg, NP_001595.2:p.Lys100Arg, NP_001245391.1:p.Lys100Arg, NP_001121084.1:p.Lys86Arg, NP_001245394.1:p.Lys86Arg, NP_001355839.1:p.Lys167Arg, NP_001355848.1:p.Lys125Arg, NP_001355823.1:p.Lys100Arg, NP_001355816.1:p.Lys86Arg, NP_001355847.1:p.Lys125Arg, NP_001355822.1:p.Lys100Arg, NP_001355849.1:p.Lys111Arg, NP_001245392.1:p.Lys100Arg, NP_001355819.1:p.Lys86Arg, NP_001355821.1:p.Lys100Arg, NP_001355820.1:p.Lys86Arg, NP_001355817.1:p.Lys86Arg, NP_001245393.1:p.Lys86Arg, NP_001355841.1:p.Lys100Arg, NP_001297087.1:p.Lys100Arg, NP_001355844.1:p.Lys86Arg, NP_001355846.1:p.Lys86Arg, NP_001355843.1:p.Lys100Arg, NP_001355842.1:p.Lys100Arg, NP_001355845.1:p.Lys86Arg, NP_001355818.1:p.Lys86Arg, NP_001355840.1:p.Lys101Arg, NP_001297088.1:p.Lys86Arg

                  9.

                  rs1464877550 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    11:31801898 (GRCh38)
                    11:31823446 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:31801897:T:C
                    Gene:
                    PAX6 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                    HGVS:
                    NC_000011.10:g.31801898T>C, NC_000011.9:g.31823446T>C, NG_008679.1:g.21064A>G, NM_001604.6:c.156A>G, NM_001604.5:c.156A>G, NM_001258462.3:c.156A>G, NM_001258462.2:c.156A>G, NM_001258462.1:c.156A>G, NM_001310161.3:c.-295A>G, NM_001310161.2:c.-295A>G, NM_001310161.1:c.-295A>G, NM_001310160.2:c.-626A>G, NM_001310160.1:c.-626A>G, NM_001368903.2:c.-295A>G, NM_001368903.1:c.-295A>G, NM_001368905.2:c.-626A>G, NM_001368905.1:c.-626A>G, NM_001368929.2:c.-295A>G, NM_001368929.1:c.-295A>G, NM_001368919.2:c.231A>G, NM_001368919.1:c.231A>G, NM_001368894.2:c.156A>G, NM_001368894.1:c.156A>G, NM_001368918.2:c.231A>G, NM_001368918.1:c.231A>G, NM_001368893.2:c.156A>G, NM_001368893.1:c.156A>G, NM_001258463.2:c.156A>G, NM_001258463.1:c.156A>G, NM_001368892.2:c.156A>G, NM_001368892.1:c.156A>G, NM_001368912.2:c.156A>G, NM_001368912.1:c.156A>G, NM_001310158.2:c.156A>G, NM_001310158.1:c.156A>G, NM_001368922.2:c.156A>G, NM_001368922.1:c.156A>G, NM_001368927.2:c.156A>G, NM_001368927.1:c.156A>G, NM_001368914.2:c.156A>G, NM_001368914.1:c.156A>G, NM_001368913.2:c.156A>G, NM_001368913.1:c.156A>G, NM_001368923.2:c.156A>G, NM_001368923.1:c.156A>G, NM_001368900.2:c.-295A>G, NM_001368900.1:c.-295A>G, NM_001368924.2:c.156A>G, NM_001368924.1:c.156A>G, NM_001368926.2:c.156A>G, NM_001368926.1:c.156A>G, NM_001368925.2:c.156A>G, NM_001368925.1:c.156A>G, NR_160916.2:n.578A>G, NR_160916.1:n.578A>G, NM_001368908.2:c.-295A>G, NM_001368908.1:c.-295A>G, NM_001368911.2:c.159A>G, NM_001368911.1:c.159A>G, NM_001368921.2:c.156A>G, NM_001368921.1:c.156A>G

                    10.

                    rs1461951168 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:31800847 (GRCh38)
                      11:31822395 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:31800846:T:C
                      Gene:
                      PAX6 (Varview)
                      Functional Consequence:
                      missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000011.10:g.31800847T>C, NC_000011.9:g.31822395T>C, NG_008679.1:g.22115A>G, NM_000280.6:c.367A>G, NM_000280.5:c.367A>G, NM_000280.4:c.367A>G, NM_001604.6:c.409A>G, NM_001604.5:c.409A>G, NM_001258462.3:c.409A>G, NM_001258462.2:c.409A>G, NM_001258462.1:c.409A>G, NM_001127612.3:c.367A>G, NM_001127612.2:c.367A>G, NM_001127612.1:c.367A>G, NM_001258465.3:c.367A>G, NM_001258465.2:c.367A>G, NM_001258465.1:c.367A>G, NM_001310161.3:c.-42A>G, NM_001310161.2:c.-42A>G, NM_001310161.1:c.-42A>G, NM_001310160.2:c.-42A>G, NM_001310160.1:c.-42A>G, NM_001368902.2:c.-42A>G, NM_001368902.1:c.-42A>G, NM_001368903.2:c.-42A>G, NM_001368903.1:c.-42A>G, NM_001368907.2:c.-42A>G, NM_001368907.1:c.-42A>G, NM_001368905.2:c.-42A>G, NM_001368905.1:c.-42A>G, NM_001368906.2:c.-42A>G, NM_001368906.1:c.-42A>G, NM_001368929.2:c.-42A>G, NM_001368929.1:c.-42A>G, NM_001368910.2:c.610A>G, NM_001368910.1:c.610A>G, NM_001368919.2:c.484A>G, NM_001368919.1:c.484A>G, NM_001368894.2:c.409A>G, NM_001368894.1:c.409A>G, NM_001368887.2:c.367A>G, NM_001368887.1:c.367A>G, NM_001368918.2:c.484A>G, NM_001368918.1:c.484A>G, NM_001368893.2:c.409A>G, NM_001368893.1:c.409A>G, NM_001368920.2:c.442A>G, NM_001368920.1:c.442A>G, NM_001258463.2:c.409A>G, NM_001258463.1:c.409A>G, NM_001368890.2:c.367A>G, NM_001368890.1:c.367A>G, NM_001368892.2:c.409A>G, NM_001368892.1:c.409A>G, NM_001368891.2:c.367A>G, NM_001368891.1:c.367A>G, NM_001368888.2:c.367A>G, NM_001368888.1:c.367A>G, NM_001258464.2:c.367A>G, NM_001258464.1:c.367A>G, NM_001368912.2:c.409A>G, NM_001368912.1:c.409A>G, NM_001310158.2:c.409A>G, NM_001310158.1:c.409A>G, NM_001368915.2:c.367A>G, NM_001368915.1:c.367A>G, NR_160917.2:n.836A>G, NR_160917.1:n.836A>G, NM_001368917.2:c.367A>G, NM_001368917.1:c.367A>G, NM_001368922.2:c.208A>G, NM_001368922.1:c.208A>G, NM_001368927.2:c.208A>G, NM_001368927.1:c.208A>G, NM_001368914.2:c.409A>G, NM_001368914.1:c.409A>G, NM_001368913.2:c.409A>G, NM_001368913.1:c.409A>G, NM_001368923.2:c.208A>G, NM_001368923.1:c.208A>G, NM_001368900.2:c.-42A>G, NM_001368900.1:c.-42A>G, NM_001368924.2:c.208A>G, NM_001368924.1:c.208A>G, NM_001368904.2:c.-42A>G, NM_001368904.1:c.-42A>G, NM_001368916.2:c.367A>G, NM_001368916.1:c.367A>G, NM_001368926.2:c.208A>G, NM_001368926.1:c.208A>G, NM_001368899.2:c.-42A>G, NM_001368899.1:c.-42A>G, NM_001368925.2:c.208A>G, NM_001368925.1:c.208A>G, NR_160916.2:n.831A>G, NR_160916.1:n.831A>G, NM_001368928.2:c.166A>G, NM_001368928.1:c.166A>G, NM_001368908.2:c.-42A>G, NM_001368908.1:c.-42A>G, NM_001368889.2:c.367A>G, NM_001368889.1:c.367A>G, NM_001368911.2:c.412A>G, NM_001368911.1:c.412A>G, NM_001368921.2:c.208A>G, NM_001368921.1:c.208A>G, NM_001368909.2:c.-42A>G, NM_001368909.1:c.-42A>G, NM_001368901.2:c.-42A>G, NM_001368901.1:c.-42A>G, NM_001310159.1:c.367A>G, NP_000271.1:p.Ile123Val, NP_001595.2:p.Ile137Val, NP_001245391.1:p.Ile137Val, NP_001121084.1:p.Ile123Val, NP_001245394.1:p.Ile123Val, NP_001355839.1:p.Ile204Val, NP_001355848.1:p.Ile162Val, NP_001355823.1:p.Ile137Val, NP_001355816.1:p.Ile123Val, NP_001355847.1:p.Ile162Val, NP_001355822.1:p.Ile137Val, NP_001355849.1:p.Ile148Val, NP_001245392.1:p.Ile137Val, NP_001355819.1:p.Ile123Val, NP_001355821.1:p.Ile137Val, NP_001355820.1:p.Ile123Val, NP_001355817.1:p.Ile123Val, NP_001245393.1:p.Ile123Val, NP_001355841.1:p.Ile137Val, NP_001297087.1:p.Ile137Val, NP_001355844.1:p.Ile123Val, NP_001355846.1:p.Ile123Val, NP_001355851.1:p.Ile70Val, NP_001355856.1:p.Ile70Val, NP_001355843.1:p.Ile137Val, NP_001355842.1:p.Ile137Val, NP_001355852.1:p.Ile70Val, NP_001355853.1:p.Ile70Val, NP_001355845.1:p.Ile123Val, NP_001355855.1:p.Ile70Val, NP_001355854.1:p.Ile70Val, NP_001355857.1:p.Ile56Val, NP_001355818.1:p.Ile123Val, NP_001355840.1:p.Ile138Val, NP_001355850.1:p.Ile70Val, NP_001297088.1:p.Ile123Val

                      11.

                      rs1459535494 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        11:31794670 (GRCh38)
                        11:31816218 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:31794669:T:C
                        Gene:
                        PAX6 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000011.10:g.31794670T>C, NC_000011.9:g.31816218T>C, NG_008679.1:g.28292A>G, NM_000280.6:c.642A>G, NM_000280.5:c.642A>G, NM_000280.4:c.642A>G, NM_001604.6:c.684A>G, NM_001604.5:c.684A>G, NM_001258462.3:c.684A>G, NM_001258462.2:c.684A>G, NM_001258462.1:c.684A>G, NM_001127612.3:c.642A>G, NM_001127612.2:c.642A>G, NM_001127612.1:c.642A>G, NM_001258465.3:c.642A>G, NM_001258465.2:c.642A>G, NM_001258465.1:c.642A>G, NM_001310161.3:c.234A>G, NM_001310161.2:c.234A>G, NM_001310161.1:c.234A>G, NM_001310160.2:c.234A>G, NM_001310160.1:c.234A>G, NM_001368902.2:c.234A>G, NM_001368902.1:c.234A>G, NM_001368903.2:c.234A>G, NM_001368903.1:c.234A>G, NM_001368907.2:c.234A>G, NM_001368907.1:c.234A>G, NM_001368905.2:c.234A>G, NM_001368905.1:c.234A>G, NM_001368906.2:c.234A>G, NM_001368906.1:c.234A>G, NM_001368929.2:c.234A>G, NM_001368929.1:c.234A>G, NM_001368910.2:c.885A>G, NM_001368910.1:c.885A>G, NM_001368919.2:c.759A>G, NM_001368919.1:c.759A>G, NM_001368894.2:c.684A>G, NM_001368894.1:c.684A>G, NM_001368887.2:c.642A>G, NM_001368887.1:c.642A>G, NM_001368918.2:c.759A>G, NM_001368918.1:c.759A>G, NM_001368893.2:c.684A>G, NM_001368893.1:c.684A>G, NM_001368920.2:c.717A>G, NM_001368920.1:c.717A>G, NM_001258463.2:c.684A>G, NM_001258463.1:c.684A>G, NM_001368890.2:c.642A>G, NM_001368890.1:c.642A>G, NM_001368892.2:c.684A>G, NM_001368892.1:c.684A>G, NM_001368891.2:c.642A>G, NM_001368891.1:c.642A>G, NM_001368888.2:c.642A>G, NM_001368888.1:c.642A>G, NM_001258464.2:c.642A>G, NM_001258464.1:c.642A>G, NM_001368912.2:c.684A>G, NM_001368912.1:c.684A>G, NM_001310158.2:c.684A>G, NM_001310158.1:c.684A>G, NM_001368915.2:c.642A>G, NM_001368915.1:c.642A>G, NR_160917.2:n.1111A>G, NR_160917.1:n.1111A>G, NM_001368917.2:c.642A>G, NM_001368917.1:c.642A>G, NM_001368922.2:c.483A>G, NM_001368922.1:c.483A>G, NM_001368927.2:c.483A>G, NM_001368927.1:c.483A>G, NM_001368914.2:c.684A>G, NM_001368914.1:c.684A>G, NM_001368913.2:c.684A>G, NM_001368913.1:c.684A>G, NM_001368923.2:c.483A>G, NM_001368923.1:c.483A>G, NM_001368900.2:c.234A>G, NM_001368900.1:c.234A>G, NM_001368924.2:c.483A>G, NM_001368924.1:c.483A>G, NM_001368904.2:c.234A>G, NM_001368904.1:c.234A>G, NM_001368916.2:c.642A>G, NM_001368916.1:c.642A>G, NM_001368926.2:c.483A>G, NM_001368926.1:c.483A>G, NM_001368899.2:c.234A>G, NM_001368899.1:c.234A>G, NM_001368925.2:c.483A>G, NM_001368925.1:c.483A>G, NR_160916.2:n.1106A>G, NR_160916.1:n.1106A>G, NM_001368928.2:c.441A>G, NM_001368928.1:c.441A>G, NM_001368908.2:c.234A>G, NM_001368908.1:c.234A>G, NM_001368889.2:c.642A>G, NM_001368889.1:c.642A>G, NM_001368911.2:c.687A>G, NM_001368911.1:c.687A>G, NM_001368921.2:c.483A>G, NM_001368921.1:c.483A>G, NM_001368909.2:c.234A>G, NM_001368909.1:c.234A>G, NM_001368901.2:c.234A>G, NM_001368901.1:c.234A>G, NM_001368930.2:c.39A>G, NM_001368930.1:c.39A>G, NM_001310159.1:c.642A>G

                        12.

                        rs1456447025 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:31790773 (GRCh38)
                          11:31812321 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:31790772:G:A
                          Gene:
                          PAX6 (Varview), ELP4 (Varview)
                          Functional Consequence:
                          500B_downstream_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.31790773G>A, NC_000011.9:g.31812321G>A, NG_008679.1:g.32189C>T, NM_000280.6:c.1120C>T, NM_000280.5:c.1120C>T, NM_000280.4:c.1120C>T, NM_001604.6:c.1162C>T, NM_001604.5:c.1162C>T, NM_001258462.3:c.1162C>T, NM_001258462.2:c.1162C>T, NM_001258462.1:c.1162C>T, NM_001127612.3:c.1120C>T, NM_001127612.2:c.1120C>T, NM_001127612.1:c.1120C>T, NM_001258465.3:c.1120C>T, NM_001258465.2:c.1120C>T, NM_001258465.1:c.1120C>T, NM_001310161.3:c.712C>T, NM_001310161.2:c.712C>T, NM_001310161.1:c.712C>T, NM_001310160.2:c.712C>T, NM_001310160.1:c.712C>T, NM_001368902.2:c.712C>T, NM_001368902.1:c.712C>T, NM_001368903.2:c.712C>T, NM_001368903.1:c.712C>T, NM_001368907.2:c.712C>T, NM_001368907.1:c.712C>T, NM_001368905.2:c.712C>T, NM_001368905.1:c.712C>T, NM_001368906.2:c.712C>T, NM_001368906.1:c.712C>T, NM_001368910.2:c.1363C>T, NM_001368910.1:c.1363C>T, NM_001368919.2:c.1237C>T, NM_001368919.1:c.1237C>T, NM_001368894.2:c.1162C>T, NM_001368894.1:c.1162C>T, NM_001368887.2:c.1120C>T, NM_001368887.1:c.1120C>T, NM_001368918.2:c.1237C>T, NM_001368918.1:c.1237C>T, NM_001368893.2:c.1162C>T, NM_001368893.1:c.1162C>T, NM_001368920.2:c.1195C>T, NM_001368920.1:c.1195C>T, NM_001258463.2:c.1162C>T, NM_001258463.1:c.1162C>T, NM_001368890.2:c.1120C>T, NM_001368890.1:c.1120C>T, NM_001368892.2:c.1162C>T, NM_001368892.1:c.1162C>T, NM_001368891.2:c.1120C>T, NM_001368891.1:c.1120C>T, NM_001368888.2:c.1120C>T, NM_001368888.1:c.1120C>T, NM_001258464.2:c.1120C>T, NM_001258464.1:c.1120C>T, NM_001310158.2:c.1162C>T, NM_001310158.1:c.1162C>T, NR_160917.2:n.1506C>T, NR_160917.1:n.1506C>T, NM_001368922.2:c.961C>T, NM_001368922.1:c.961C>T, NM_001368927.2:c.961C>T, NM_001368927.1:c.961C>T, NM_001368923.2:c.961C>T, NM_001368923.1:c.961C>T, NM_001368900.2:c.712C>T, NM_001368900.1:c.712C>T, NM_001368924.2:c.961C>T, NM_001368924.1:c.961C>T, NM_001368904.2:c.712C>T, NM_001368904.1:c.712C>T, NM_001368926.2:c.961C>T, NM_001368926.1:c.961C>T, NM_001368899.2:c.712C>T, NM_001368899.1:c.712C>T, NM_001368925.2:c.961C>T, NM_001368925.1:c.961C>T, NM_001368928.2:c.919C>T, NM_001368928.1:c.919C>T, NM_001368908.2:c.712C>T, NM_001368908.1:c.712C>T, NM_001368889.2:c.1120C>T, NM_001368889.1:c.1120C>T, NM_001368909.2:c.712C>T, NM_001368909.1:c.712C>T, NM_001368901.2:c.712C>T, NM_001368901.1:c.712C>T, NM_001368930.2:c.517C>T, NM_001368930.1:c.517C>T, NP_000271.1:p.Pro374Ser, NP_001595.2:p.Pro388Ser, NP_001245391.1:p.Pro388Ser, NP_001121084.1:p.Pro374Ser, NP_001245394.1:p.Pro374Ser, NP_001297090.1:p.Pro238Ser, NP_001297089.1:p.Pro238Ser, NP_001355831.1:p.Pro238Ser, NP_001355832.1:p.Pro238Ser, NP_001355836.1:p.Pro238Ser, NP_001355834.1:p.Pro238Ser, NP_001355835.1:p.Pro238Ser, NP_001355839.1:p.Pro455Ser, NP_001355848.1:p.Pro413Ser, NP_001355823.1:p.Pro388Ser, NP_001355816.1:p.Pro374Ser, NP_001355847.1:p.Pro413Ser, NP_001355822.1:p.Pro388Ser, NP_001355849.1:p.Pro399Ser, NP_001245392.1:p.Pro388Ser, NP_001355819.1:p.Pro374Ser, NP_001355821.1:p.Pro388Ser, NP_001355820.1:p.Pro374Ser, NP_001355817.1:p.Pro374Ser, NP_001245393.1:p.Pro374Ser, NP_001297087.1:p.Pro388Ser, NP_001355851.1:p.Pro321Ser, NP_001355856.1:p.Pro321Ser, NP_001355852.1:p.Pro321Ser, NP_001355829.1:p.Pro238Ser, NP_001355853.1:p.Pro321Ser, NP_001355833.1:p.Pro238Ser, NP_001355855.1:p.Pro321Ser, NP_001355828.1:p.Pro238Ser, NP_001355854.1:p.Pro321Ser, NP_001355857.1:p.Pro307Ser, NP_001355837.1:p.Pro238Ser, NP_001355818.1:p.Pro374Ser, NP_001355838.1:p.Pro238Ser, NP_001355830.1:p.Pro238Ser, NP_001355859.1:p.Pro173Ser

                          13.

                          rs1455999782 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            11:31800771 (GRCh38)
                            11:31822319 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:31800770:A:C
                            Gene:
                            PAX6 (Varview)
                            Functional Consequence:
                            missense_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.31800771A>C, NC_000011.9:g.31822319A>C, NG_008679.1:g.22191T>G, NM_000280.6:c.443T>G, NM_000280.5:c.443T>G, NM_000280.4:c.443T>G, NM_001604.6:c.485T>G, NM_001604.5:c.485T>G, NM_001258462.3:c.485T>G, NM_001258462.2:c.485T>G, NM_001258462.1:c.485T>G, NM_001127612.3:c.443T>G, NM_001127612.2:c.443T>G, NM_001127612.1:c.443T>G, NM_001258465.3:c.443T>G, NM_001258465.2:c.443T>G, NM_001258465.1:c.443T>G, NM_001310161.3:c.35T>G, NM_001310161.2:c.35T>G, NM_001310161.1:c.35T>G, NM_001310160.2:c.35T>G, NM_001310160.1:c.35T>G, NM_001368902.2:c.35T>G, NM_001368902.1:c.35T>G, NM_001368903.2:c.35T>G, NM_001368903.1:c.35T>G, NM_001368907.2:c.35T>G, NM_001368907.1:c.35T>G, NM_001368905.2:c.35T>G, NM_001368905.1:c.35T>G, NM_001368906.2:c.35T>G, NM_001368906.1:c.35T>G, NM_001368929.2:c.35T>G, NM_001368929.1:c.35T>G, NM_001368910.2:c.686T>G, NM_001368910.1:c.686T>G, NM_001368919.2:c.560T>G, NM_001368919.1:c.560T>G, NM_001368894.2:c.485T>G, NM_001368894.1:c.485T>G, NM_001368887.2:c.443T>G, NM_001368887.1:c.443T>G, NM_001368918.2:c.560T>G, NM_001368918.1:c.560T>G, NM_001368893.2:c.485T>G, NM_001368893.1:c.485T>G, NM_001368920.2:c.518T>G, NM_001368920.1:c.518T>G, NM_001258463.2:c.485T>G, NM_001258463.1:c.485T>G, NM_001368890.2:c.443T>G, NM_001368890.1:c.443T>G, NM_001368892.2:c.485T>G, NM_001368892.1:c.485T>G, NM_001368891.2:c.443T>G, NM_001368891.1:c.443T>G, NM_001368888.2:c.443T>G, NM_001368888.1:c.443T>G, NM_001258464.2:c.443T>G, NM_001258464.1:c.443T>G, NM_001368912.2:c.485T>G, NM_001368912.1:c.485T>G, NM_001310158.2:c.485T>G, NM_001310158.1:c.485T>G, NM_001368915.2:c.443T>G, NM_001368915.1:c.443T>G, NR_160917.2:n.912T>G, NR_160917.1:n.912T>G, NM_001368917.2:c.443T>G, NM_001368917.1:c.443T>G, NM_001368922.2:c.284T>G, NM_001368922.1:c.284T>G, NM_001368927.2:c.284T>G, NM_001368927.1:c.284T>G, NM_001368914.2:c.485T>G, NM_001368914.1:c.485T>G, NM_001368913.2:c.485T>G, NM_001368913.1:c.485T>G, NM_001368923.2:c.284T>G, NM_001368923.1:c.284T>G, NM_001368900.2:c.35T>G, NM_001368900.1:c.35T>G, NM_001368924.2:c.284T>G, NM_001368924.1:c.284T>G, NM_001368904.2:c.35T>G, NM_001368904.1:c.35T>G, NM_001368916.2:c.443T>G, NM_001368916.1:c.443T>G, NM_001368926.2:c.284T>G, NM_001368926.1:c.284T>G, NM_001368899.2:c.35T>G, NM_001368899.1:c.35T>G, NM_001368925.2:c.284T>G, NM_001368925.1:c.284T>G, NR_160916.2:n.907T>G, NR_160916.1:n.907T>G, NM_001368928.2:c.242T>G, NM_001368928.1:c.242T>G, NM_001368908.2:c.35T>G, NM_001368908.1:c.35T>G, NM_001368889.2:c.443T>G, NM_001368889.1:c.443T>G, NM_001368911.2:c.488T>G, NM_001368911.1:c.488T>G, NM_001368921.2:c.284T>G, NM_001368921.1:c.284T>G, NM_001368909.2:c.35T>G, NM_001368909.1:c.35T>G, NM_001368901.2:c.35T>G, NM_001368901.1:c.35T>G, NM_001310159.1:c.443T>G, NP_000271.1:p.Met148Arg, NP_001595.2:p.Met162Arg, NP_001245391.1:p.Met162Arg, NP_001121084.1:p.Met148Arg, NP_001245394.1:p.Met148Arg, NP_001297090.1:p.Met12Arg, NP_001297089.1:p.Met12Arg, NP_001355831.1:p.Met12Arg, NP_001355832.1:p.Met12Arg, NP_001355836.1:p.Met12Arg, NP_001355834.1:p.Met12Arg, NP_001355835.1:p.Met12Arg, NP_001355858.1:p.Met12Arg, NP_001355839.1:p.Met229Arg, NP_001355848.1:p.Met187Arg, NP_001355823.1:p.Met162Arg, NP_001355816.1:p.Met148Arg, NP_001355847.1:p.Met187Arg, NP_001355822.1:p.Met162Arg, NP_001355849.1:p.Met173Arg, NP_001245392.1:p.Met162Arg, NP_001355819.1:p.Met148Arg, NP_001355821.1:p.Met162Arg, NP_001355820.1:p.Met148Arg, NP_001355817.1:p.Met148Arg, NP_001245393.1:p.Met148Arg, NP_001355841.1:p.Met162Arg, NP_001297087.1:p.Met162Arg, NP_001355844.1:p.Met148Arg, NP_001355846.1:p.Met148Arg, NP_001355851.1:p.Met95Arg, NP_001355856.1:p.Met95Arg, NP_001355843.1:p.Met162Arg, NP_001355842.1:p.Met162Arg, NP_001355852.1:p.Met95Arg, NP_001355829.1:p.Met12Arg, NP_001355853.1:p.Met95Arg, NP_001355833.1:p.Met12Arg, NP_001355845.1:p.Met148Arg, NP_001355855.1:p.Met95Arg, NP_001355828.1:p.Met12Arg, NP_001355854.1:p.Met95Arg, NP_001355857.1:p.Met81Arg, NP_001355837.1:p.Met12Arg, NP_001355818.1:p.Met148Arg, NP_001355840.1:p.Met163Arg, NP_001355850.1:p.Met95Arg, NP_001355838.1:p.Met12Arg, NP_001355830.1:p.Met12Arg, NP_001297088.1:p.Met148Arg

                            14.

                            rs1454718093 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              11:31801907 (GRCh38)
                              11:31823455 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:31801906:A:C
                              Gene:
                              PAX6 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.31801907A>C, NC_000011.9:g.31823455A>C, NG_008679.1:g.21055T>G, NM_001604.6:c.147T>G, NM_001604.5:c.147T>G, NM_001258462.3:c.147T>G, NM_001258462.2:c.147T>G, NM_001258462.1:c.147T>G, NM_001310161.3:c.-304T>G, NM_001310161.2:c.-304T>G, NM_001310161.1:c.-304T>G, NM_001310160.2:c.-635T>G, NM_001310160.1:c.-635T>G, NM_001368903.2:c.-304T>G, NM_001368903.1:c.-304T>G, NM_001368905.2:c.-635T>G, NM_001368905.1:c.-635T>G, NM_001368929.2:c.-304T>G, NM_001368929.1:c.-304T>G, NM_001368919.2:c.222T>G, NM_001368919.1:c.222T>G, NM_001368894.2:c.147T>G, NM_001368894.1:c.147T>G, NM_001368918.2:c.222T>G, NM_001368918.1:c.222T>G, NM_001368893.2:c.147T>G, NM_001368893.1:c.147T>G, NM_001258463.2:c.147T>G, NM_001258463.1:c.147T>G, NM_001368892.2:c.147T>G, NM_001368892.1:c.147T>G, NM_001368912.2:c.147T>G, NM_001368912.1:c.147T>G, NM_001310158.2:c.147T>G, NM_001310158.1:c.147T>G, NM_001368922.2:c.147T>G, NM_001368922.1:c.147T>G, NM_001368927.2:c.147T>G, NM_001368927.1:c.147T>G, NM_001368914.2:c.147T>G, NM_001368914.1:c.147T>G, NM_001368913.2:c.147T>G, NM_001368913.1:c.147T>G, NM_001368923.2:c.147T>G, NM_001368923.1:c.147T>G, NM_001368900.2:c.-304T>G, NM_001368900.1:c.-304T>G, NM_001368924.2:c.147T>G, NM_001368924.1:c.147T>G, NM_001368926.2:c.147T>G, NM_001368926.1:c.147T>G, NM_001368925.2:c.147T>G, NM_001368925.1:c.147T>G, NR_160916.2:n.569T>G, NR_160916.1:n.569T>G, NM_001368908.2:c.-304T>G, NM_001368908.1:c.-304T>G, NM_001368911.2:c.150T>G, NM_001368911.1:c.150T>G, NM_001368921.2:c.147T>G, NM_001368921.1:c.147T>G, NP_001595.2:p.His49Gln, NP_001245391.1:p.His49Gln, NP_001355848.1:p.His74Gln, NP_001355823.1:p.His49Gln, NP_001355847.1:p.His74Gln, NP_001355822.1:p.His49Gln, NP_001245392.1:p.His49Gln, NP_001355821.1:p.His49Gln, NP_001355841.1:p.His49Gln, NP_001297087.1:p.His49Gln, NP_001355851.1:p.His49Gln, NP_001355856.1:p.His49Gln, NP_001355843.1:p.His49Gln, NP_001355842.1:p.His49Gln, NP_001355852.1:p.His49Gln, NP_001355853.1:p.His49Gln, NP_001355855.1:p.His49Gln, NP_001355854.1:p.His49Gln, NP_001355840.1:p.His50Gln, NP_001355850.1:p.His49Gln

                              15.

                              rs1452469055 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                11:31793676 (GRCh38)
                                11:31815224 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:31793675:G:C,NC_000011.10:31793675:G:T
                                Gene:
                                PAX6 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000011.10:g.31793676G>C, NC_000011.10:g.31793676G>T, NC_000011.9:g.31815224G>C, NC_000011.9:g.31815224G>T, NG_008679.1:g.29286C>G, NG_008679.1:g.29286C>A, NM_000280.6:c.892C>G, NM_000280.6:c.892C>A, NM_000280.5:c.892C>G, NM_000280.5:c.892C>A, NM_000280.4:c.892C>G, NM_000280.4:c.892C>A, NM_001604.6:c.934C>G, NM_001604.6:c.934C>A, NM_001604.5:c.934C>G, NM_001604.5:c.934C>A, NM_001258462.3:c.934C>G, NM_001258462.3:c.934C>A, NM_001258462.2:c.934C>G, NM_001258462.2:c.934C>A, NM_001258462.1:c.934C>G, NM_001258462.1:c.934C>A, NM_001127612.3:c.892C>G, NM_001127612.3:c.892C>A, NM_001127612.2:c.892C>G, NM_001127612.2:c.892C>A, NM_001127612.1:c.892C>G, NM_001127612.1:c.892C>A, NM_001258465.3:c.892C>G, NM_001258465.3:c.892C>A, NM_001258465.2:c.892C>G, NM_001258465.2:c.892C>A, NM_001258465.1:c.892C>G, NM_001258465.1:c.892C>A, NM_001310161.3:c.484C>G, NM_001310161.3:c.484C>A, NM_001310161.2:c.484C>G, NM_001310161.2:c.484C>A, NM_001310161.1:c.484C>G, NM_001310161.1:c.484C>A, NM_001310160.2:c.484C>G, NM_001310160.2:c.484C>A, NM_001310160.1:c.484C>G, NM_001310160.1:c.484C>A, NM_001368902.2:c.484C>G, NM_001368902.2:c.484C>A, NM_001368902.1:c.484C>G, NM_001368902.1:c.484C>A, NM_001368903.2:c.484C>G, NM_001368903.2:c.484C>A, NM_001368903.1:c.484C>G, NM_001368903.1:c.484C>A, NM_001368907.2:c.484C>G, NM_001368907.2:c.484C>A, NM_001368907.1:c.484C>G, NM_001368907.1:c.484C>A, NM_001368905.2:c.484C>G, NM_001368905.2:c.484C>A, NM_001368905.1:c.484C>G, NM_001368905.1:c.484C>A, NM_001368906.2:c.484C>G, NM_001368906.2:c.484C>A, NM_001368906.1:c.484C>G, NM_001368906.1:c.484C>A, NM_001368929.2:c.484C>G, NM_001368929.2:c.484C>A, NM_001368929.1:c.484C>G, NM_001368929.1:c.484C>A, NM_001368910.2:c.1135C>G, NM_001368910.2:c.1135C>A, NM_001368910.1:c.1135C>G, NM_001368910.1:c.1135C>A, NM_001368919.2:c.1009C>G, NM_001368919.2:c.1009C>A, NM_001368919.1:c.1009C>G, NM_001368919.1:c.1009C>A, NM_001368894.2:c.934C>G, NM_001368894.2:c.934C>A, NM_001368894.1:c.934C>G, NM_001368894.1:c.934C>A, NM_001368887.2:c.892C>G, NM_001368887.2:c.892C>A, NM_001368887.1:c.892C>G, NM_001368887.1:c.892C>A, NM_001368918.2:c.1009C>G, NM_001368918.2:c.1009C>A, NM_001368918.1:c.1009C>G, NM_001368918.1:c.1009C>A, NM_001368893.2:c.934C>G, NM_001368893.2:c.934C>A, NM_001368893.1:c.934C>G, NM_001368893.1:c.934C>A, NM_001368920.2:c.967C>G, NM_001368920.2:c.967C>A, NM_001368920.1:c.967C>G, NM_001368920.1:c.967C>A, NM_001258463.2:c.934C>G, NM_001258463.2:c.934C>A, NM_001258463.1:c.934C>G, NM_001258463.1:c.934C>A, NM_001368890.2:c.892C>G, NM_001368890.2:c.892C>A, NM_001368890.1:c.892C>G, NM_001368890.1:c.892C>A, NM_001368892.2:c.934C>G, NM_001368892.2:c.934C>A, NM_001368892.1:c.934C>G, NM_001368892.1:c.934C>A, NM_001368891.2:c.892C>G, NM_001368891.2:c.892C>A, NM_001368891.1:c.892C>G, NM_001368891.1:c.892C>A, NM_001368888.2:c.892C>G, NM_001368888.2:c.892C>A, NM_001368888.1:c.892C>G, NM_001368888.1:c.892C>A, NM_001258464.2:c.892C>G, NM_001258464.2:c.892C>A, NM_001258464.1:c.892C>G, NM_001258464.1:c.892C>A, NM_001368912.2:c.934C>G, NM_001368912.2:c.934C>A, NM_001368912.1:c.934C>G, NM_001368912.1:c.934C>A, NM_001310158.2:c.934C>G, NM_001310158.2:c.934C>A, NM_001310158.1:c.934C>G, NM_001310158.1:c.934C>A, NM_001368915.2:c.892C>G, NM_001368915.2:c.892C>A, NM_001368915.1:c.892C>G, NM_001368915.1:c.892C>A, NR_160917.2:n.1278C>G, NR_160917.2:n.1278C>A, NR_160917.1:n.1278C>G, NR_160917.1:n.1278C>A, NM_001368917.2:c.892C>G, NM_001368917.2:c.892C>A, NM_001368917.1:c.892C>G, NM_001368917.1:c.892C>A, NM_001368922.2:c.733C>G, NM_001368922.2:c.733C>A, NM_001368922.1:c.733C>G, NM_001368922.1:c.733C>A, NM_001368927.2:c.733C>G, NM_001368927.2:c.733C>A, NM_001368927.1:c.733C>G, NM_001368927.1:c.733C>A, NM_001368914.2:c.934C>G, NM_001368914.2:c.934C>A, NM_001368914.1:c.934C>G, NM_001368914.1:c.934C>A, NM_001368913.2:c.934C>G, NM_001368913.2:c.934C>A, NM_001368913.1:c.934C>G, NM_001368913.1:c.934C>A, NM_001368923.2:c.733C>G, NM_001368923.2:c.733C>A, NM_001368923.1:c.733C>G, NM_001368923.1:c.733C>A, NM_001368900.2:c.484C>G, NM_001368900.2:c.484C>A, NM_001368900.1:c.484C>G, NM_001368900.1:c.484C>A, NM_001368924.2:c.733C>G, NM_001368924.2:c.733C>A, NM_001368924.1:c.733C>G, NM_001368924.1:c.733C>A, NM_001368904.2:c.484C>G, NM_001368904.2:c.484C>A, NM_001368904.1:c.484C>G, NM_001368904.1:c.484C>A, NM_001368916.2:c.892C>G, NM_001368916.2:c.892C>A, NM_001368916.1:c.892C>G, NM_001368916.1:c.892C>A, NM_001368926.2:c.733C>G, NM_001368926.2:c.733C>A, NM_001368926.1:c.733C>G, NM_001368926.1:c.733C>A, NM_001368899.2:c.484C>G, NM_001368899.2:c.484C>A, NM_001368899.1:c.484C>G, NM_001368899.1:c.484C>A, NM_001368925.2:c.733C>G, NM_001368925.2:c.733C>A, NM_001368925.1:c.733C>G, NM_001368925.1:c.733C>A, NR_160916.2:n.1273C>G, NR_160916.2:n.1273C>A, NR_160916.1:n.1273C>G, NR_160916.1:n.1273C>A, NM_001368928.2:c.691C>G, NM_001368928.2:c.691C>A, NM_001368928.1:c.691C>G, NM_001368928.1:c.691C>A, NM_001368908.2:c.484C>G, NM_001368908.2:c.484C>A, NM_001368908.1:c.484C>G, NM_001368908.1:c.484C>A, NM_001368889.2:c.892C>G, NM_001368889.2:c.892C>A, NM_001368889.1:c.892C>G, NM_001368889.1:c.892C>A, NM_001368911.2:c.937C>G, NM_001368911.2:c.937C>A, NM_001368911.1:c.937C>G, NM_001368911.1:c.937C>A, NM_001368921.2:c.733C>G, NM_001368921.2:c.733C>A, NM_001368921.1:c.733C>G, NM_001368921.1:c.733C>A, NM_001368909.2:c.484C>G, NM_001368909.2:c.484C>A, NM_001368909.1:c.484C>G, NM_001368909.1:c.484C>A, NM_001368901.2:c.484C>G, NM_001368901.2:c.484C>A, NM_001368901.1:c.484C>G, NM_001368901.1:c.484C>A, NM_001368930.2:c.289C>G, NM_001368930.2:c.289C>A, NM_001368930.1:c.289C>G, NM_001368930.1:c.289C>A, NM_001310159.1:c.892C>G, NM_001310159.1:c.892C>A, NP_000271.1:p.Pro298Ala, NP_000271.1:p.Pro298Thr, NP_001595.2:p.Pro312Ala, NP_001595.2:p.Pro312Thr, NP_001245391.1:p.Pro312Ala, NP_001245391.1:p.Pro312Thr, NP_001121084.1:p.Pro298Ala, NP_001121084.1:p.Pro298Thr, NP_001245394.1:p.Pro298Ala, NP_001245394.1:p.Pro298Thr, NP_001297090.1:p.Pro162Ala, NP_001297090.1:p.Pro162Thr, NP_001297089.1:p.Pro162Ala, NP_001297089.1:p.Pro162Thr, NP_001355831.1:p.Pro162Ala, NP_001355831.1:p.Pro162Thr, NP_001355832.1:p.Pro162Ala, NP_001355832.1:p.Pro162Thr, NP_001355836.1:p.Pro162Ala, NP_001355836.1:p.Pro162Thr, NP_001355834.1:p.Pro162Ala, NP_001355834.1:p.Pro162Thr, NP_001355835.1:p.Pro162Ala, NP_001355835.1:p.Pro162Thr, NP_001355858.1:p.Pro162Ala, NP_001355858.1:p.Pro162Thr, NP_001355839.1:p.Pro379Ala, NP_001355839.1:p.Pro379Thr, NP_001355848.1:p.Pro337Ala, NP_001355848.1:p.Pro337Thr, NP_001355823.1:p.Pro312Ala, NP_001355823.1:p.Pro312Thr, NP_001355816.1:p.Pro298Ala, NP_001355816.1:p.Pro298Thr, NP_001355847.1:p.Pro337Ala, NP_001355847.1:p.Pro337Thr, NP_001355822.1:p.Pro312Ala, NP_001355822.1:p.Pro312Thr, NP_001355849.1:p.Pro323Ala, NP_001355849.1:p.Pro323Thr, NP_001245392.1:p.Pro312Ala, NP_001245392.1:p.Pro312Thr, NP_001355819.1:p.Pro298Ala, NP_001355819.1:p.Pro298Thr, NP_001355821.1:p.Pro312Ala, NP_001355821.1:p.Pro312Thr, NP_001355820.1:p.Pro298Ala, NP_001355820.1:p.Pro298Thr, NP_001355817.1:p.Pro298Ala, NP_001355817.1:p.Pro298Thr, NP_001245393.1:p.Pro298Ala, NP_001245393.1:p.Pro298Thr, NP_001355841.1:p.Pro312Ala, NP_001355841.1:p.Pro312Thr, NP_001297087.1:p.Pro312Ala, NP_001297087.1:p.Pro312Thr, NP_001355844.1:p.Pro298Ala, NP_001355844.1:p.Pro298Thr, NP_001355846.1:p.Pro298Ala, NP_001355846.1:p.Pro298Thr, NP_001355851.1:p.Pro245Ala, NP_001355851.1:p.Pro245Thr, NP_001355856.1:p.Pro245Ala, NP_001355856.1:p.Pro245Thr, NP_001355843.1:p.Pro312Ala, NP_001355843.1:p.Pro312Thr, NP_001355842.1:p.Pro312Ala, NP_001355842.1:p.Pro312Thr, NP_001355852.1:p.Pro245Ala, NP_001355852.1:p.Pro245Thr, NP_001355829.1:p.Pro162Ala, NP_001355829.1:p.Pro162Thr, NP_001355853.1:p.Pro245Ala, NP_001355853.1:p.Pro245Thr, NP_001355833.1:p.Pro162Ala, NP_001355833.1:p.Pro162Thr, NP_001355845.1:p.Pro298Ala, NP_001355845.1:p.Pro298Thr, NP_001355855.1:p.Pro245Ala, NP_001355855.1:p.Pro245Thr, NP_001355828.1:p.Pro162Ala, NP_001355828.1:p.Pro162Thr, NP_001355854.1:p.Pro245Ala, NP_001355854.1:p.Pro245Thr, NP_001355857.1:p.Pro231Ala, NP_001355857.1:p.Pro231Thr, NP_001355837.1:p.Pro162Ala, NP_001355837.1:p.Pro162Thr, NP_001355818.1:p.Pro298Ala, NP_001355818.1:p.Pro298Thr, NP_001355840.1:p.Pro313Ala, NP_001355840.1:p.Pro313Thr, NP_001355850.1:p.Pro245Ala, NP_001355850.1:p.Pro245Thr, NP_001355838.1:p.Pro162Ala, NP_001355838.1:p.Pro162Thr, NP_001355830.1:p.Pro162Ala, NP_001355830.1:p.Pro162Thr, NP_001355859.1:p.Pro97Ala, NP_001355859.1:p.Pro97Thr, NP_001297088.1:p.Pro298Ala, NP_001297088.1:p.Pro298Thr

                                16.

                                rs1450922855 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:31800713 (GRCh38)
                                  11:31822261 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:31800712:C:T
                                  Gene:
                                  PAX6 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000011.10:g.31800713C>T, NC_000011.9:g.31822261C>T, NG_008679.1:g.22249G>A, NM_000280.6:c.501G>A, NM_000280.5:c.501G>A, NM_000280.4:c.501G>A, NM_001604.6:c.543G>A, NM_001604.5:c.543G>A, NM_001258462.3:c.543G>A, NM_001258462.2:c.543G>A, NM_001258462.1:c.543G>A, NM_001127612.3:c.501G>A, NM_001127612.2:c.501G>A, NM_001127612.1:c.501G>A, NM_001258465.3:c.501G>A, NM_001258465.2:c.501G>A, NM_001258465.1:c.501G>A, NM_001310161.3:c.93G>A, NM_001310161.2:c.93G>A, NM_001310161.1:c.93G>A, NM_001310160.2:c.93G>A, NM_001310160.1:c.93G>A, NM_001368902.2:c.93G>A, NM_001368902.1:c.93G>A, NM_001368903.2:c.93G>A, NM_001368903.1:c.93G>A, NM_001368907.2:c.93G>A, NM_001368907.1:c.93G>A, NM_001368905.2:c.93G>A, NM_001368905.1:c.93G>A, NM_001368906.2:c.93G>A, NM_001368906.1:c.93G>A, NM_001368929.2:c.93G>A, NM_001368929.1:c.93G>A, NM_001368910.2:c.744G>A, NM_001368910.1:c.744G>A, NM_001368919.2:c.618G>A, NM_001368919.1:c.618G>A, NM_001368894.2:c.543G>A, NM_001368894.1:c.543G>A, NM_001368887.2:c.501G>A, NM_001368887.1:c.501G>A, NM_001368918.2:c.618G>A, NM_001368918.1:c.618G>A, NM_001368893.2:c.543G>A, NM_001368893.1:c.543G>A, NM_001368920.2:c.576G>A, NM_001368920.1:c.576G>A, NM_001258463.2:c.543G>A, NM_001258463.1:c.543G>A, NM_001368890.2:c.501G>A, NM_001368890.1:c.501G>A, NM_001368892.2:c.543G>A, NM_001368892.1:c.543G>A, NM_001368891.2:c.501G>A, NM_001368891.1:c.501G>A, NM_001368888.2:c.501G>A, NM_001368888.1:c.501G>A, NM_001258464.2:c.501G>A, NM_001258464.1:c.501G>A, NM_001368912.2:c.543G>A, NM_001368912.1:c.543G>A, NM_001310158.2:c.543G>A, NM_001310158.1:c.543G>A, NM_001368915.2:c.501G>A, NM_001368915.1:c.501G>A, NR_160917.2:n.970G>A, NR_160917.1:n.970G>A, NM_001368917.2:c.501G>A, NM_001368917.1:c.501G>A, NM_001368922.2:c.342G>A, NM_001368922.1:c.342G>A, NM_001368927.2:c.342G>A, NM_001368927.1:c.342G>A, NM_001368914.2:c.543G>A, NM_001368914.1:c.543G>A, NM_001368913.2:c.543G>A, NM_001368913.1:c.543G>A, NM_001368923.2:c.342G>A, NM_001368923.1:c.342G>A, NM_001368900.2:c.93G>A, NM_001368900.1:c.93G>A, NM_001368924.2:c.342G>A, NM_001368924.1:c.342G>A, NM_001368904.2:c.93G>A, NM_001368904.1:c.93G>A, NM_001368916.2:c.501G>A, NM_001368916.1:c.501G>A, NM_001368926.2:c.342G>A, NM_001368926.1:c.342G>A, NM_001368899.2:c.93G>A, NM_001368899.1:c.93G>A, NM_001368925.2:c.342G>A, NM_001368925.1:c.342G>A, NR_160916.2:n.965G>A, NR_160916.1:n.965G>A, NM_001368928.2:c.300G>A, NM_001368928.1:c.300G>A, NM_001368908.2:c.93G>A, NM_001368908.1:c.93G>A, NM_001368889.2:c.501G>A, NM_001368889.1:c.501G>A, NM_001368911.2:c.546G>A, NM_001368911.1:c.546G>A, NM_001368921.2:c.342G>A, NM_001368921.1:c.342G>A, NM_001368909.2:c.93G>A, NM_001368909.1:c.93G>A, NM_001368901.2:c.93G>A, NM_001368901.1:c.93G>A, NM_001310159.1:c.501G>A

                                  17.

                                  rs1447006042 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:31801610 (GRCh38)
                                    11:31823158 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:31801609:C:T
                                    Gene:
                                    PAX6 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.31801610C>T, NC_000011.9:g.31823158C>T, NG_008679.1:g.21352G>A, NM_000280.6:c.308G>A, NM_000280.5:c.308G>A, NM_000280.4:c.308G>A, NM_001604.6:c.350G>A, NM_001604.5:c.350G>A, NM_001258462.3:c.350G>A, NM_001258462.2:c.350G>A, NM_001258462.1:c.350G>A, NM_001127612.3:c.308G>A, NM_001127612.2:c.308G>A, NM_001127612.1:c.308G>A, NM_001258465.3:c.308G>A, NM_001258465.2:c.308G>A, NM_001258465.1:c.308G>A, NM_001310161.3:c.-101G>A, NM_001310161.2:c.-101G>A, NM_001310161.1:c.-101G>A, NM_001310160.2:c.-432G>A, NM_001310160.1:c.-432G>A, NM_001368902.2:c.-432G>A, NM_001368902.1:c.-432G>A, NM_001368903.2:c.-101G>A, NM_001368903.1:c.-101G>A, NM_001368907.2:c.-101G>A, NM_001368907.1:c.-101G>A, NM_001368905.2:c.-432G>A, NM_001368905.1:c.-432G>A, NM_001368906.2:c.-101G>A, NM_001368906.1:c.-101G>A, NM_001368929.2:c.-101G>A, NM_001368929.1:c.-101G>A, NM_001368910.2:c.551G>A, NM_001368910.1:c.551G>A, NM_001368919.2:c.425G>A, NM_001368919.1:c.425G>A, NM_001368894.2:c.350G>A, NM_001368894.1:c.350G>A, NM_001368887.2:c.308G>A, NM_001368887.1:c.308G>A, NM_001368918.2:c.425G>A, NM_001368918.1:c.425G>A, NM_001368893.2:c.350G>A, NM_001368893.1:c.350G>A, NM_001368920.2:c.383G>A, NM_001368920.1:c.383G>A, NM_001258463.2:c.350G>A, NM_001258463.1:c.350G>A, NM_001368890.2:c.308G>A, NM_001368890.1:c.308G>A, NM_001368892.2:c.350G>A, NM_001368892.1:c.350G>A, NM_001368891.2:c.308G>A, NM_001368891.1:c.308G>A, NM_001368888.2:c.308G>A, NM_001368888.1:c.308G>A, NM_001258464.2:c.308G>A, NM_001258464.1:c.308G>A, NM_001368912.2:c.350G>A, NM_001368912.1:c.350G>A, NM_001310158.2:c.350G>A, NM_001310158.1:c.350G>A, NM_001368915.2:c.308G>A, NM_001368915.1:c.308G>A, NR_160917.2:n.777G>A, NR_160917.1:n.777G>A, NM_001368917.2:c.308G>A, NM_001368917.1:c.308G>A, NM_001368914.2:c.350G>A, NM_001368914.1:c.350G>A, NM_001368913.2:c.350G>A, NM_001368913.1:c.350G>A, NM_001368900.2:c.-101G>A, NM_001368900.1:c.-101G>A, NM_001368904.2:c.-101G>A, NM_001368904.1:c.-101G>A, NM_001368916.2:c.308G>A, NM_001368916.1:c.308G>A, NM_001368899.2:c.-101G>A, NM_001368899.1:c.-101G>A, NR_160916.2:n.772G>A, NR_160916.1:n.772G>A, NM_001368908.2:c.-101G>A, NM_001368908.1:c.-101G>A, NM_001368889.2:c.308G>A, NM_001368889.1:c.308G>A, NM_001368911.2:c.353G>A, NM_001368911.1:c.353G>A, NM_001368909.2:c.-101G>A, NM_001368909.1:c.-101G>A, NM_001368901.2:c.-101G>A, NM_001368901.1:c.-101G>A, NM_001310159.1:c.308G>A, NP_000271.1:p.Arg103Gln, NP_001595.2:p.Arg117Gln, NP_001245391.1:p.Arg117Gln, NP_001121084.1:p.Arg103Gln, NP_001245394.1:p.Arg103Gln, NP_001355839.1:p.Arg184Gln, NP_001355848.1:p.Arg142Gln, NP_001355823.1:p.Arg117Gln, NP_001355816.1:p.Arg103Gln, NP_001355847.1:p.Arg142Gln, NP_001355822.1:p.Arg117Gln, NP_001355849.1:p.Arg128Gln, NP_001245392.1:p.Arg117Gln, NP_001355819.1:p.Arg103Gln, NP_001355821.1:p.Arg117Gln, NP_001355820.1:p.Arg103Gln, NP_001355817.1:p.Arg103Gln, NP_001245393.1:p.Arg103Gln, NP_001355841.1:p.Arg117Gln, NP_001297087.1:p.Arg117Gln, NP_001355844.1:p.Arg103Gln, NP_001355846.1:p.Arg103Gln, NP_001355843.1:p.Arg117Gln, NP_001355842.1:p.Arg117Gln, NP_001355845.1:p.Arg103Gln, NP_001355818.1:p.Arg103Gln, NP_001355840.1:p.Arg118Gln, NP_001297088.1:p.Arg103Gln

                                    18.

                                    rs1446950387 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:31793717 (GRCh38)
                                      11:31815265 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:31793716:T:C
                                      Gene:
                                      PAX6 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.31793717T>C, NC_000011.9:g.31815265T>C, NG_008679.1:g.29245A>G, NM_000280.6:c.851A>G, NM_000280.5:c.851A>G, NM_000280.4:c.851A>G, NM_001604.6:c.893A>G, NM_001604.5:c.893A>G, NM_001258462.3:c.893A>G, NM_001258462.2:c.893A>G, NM_001258462.1:c.893A>G, NM_001127612.3:c.851A>G, NM_001127612.2:c.851A>G, NM_001127612.1:c.851A>G, NM_001258465.3:c.851A>G, NM_001258465.2:c.851A>G, NM_001258465.1:c.851A>G, NM_001310161.3:c.443A>G, NM_001310161.2:c.443A>G, NM_001310161.1:c.443A>G, NM_001310160.2:c.443A>G, NM_001310160.1:c.443A>G, NM_001368902.2:c.443A>G, NM_001368902.1:c.443A>G, NM_001368903.2:c.443A>G, NM_001368903.1:c.443A>G, NM_001368907.2:c.443A>G, NM_001368907.1:c.443A>G, NM_001368905.2:c.443A>G, NM_001368905.1:c.443A>G, NM_001368906.2:c.443A>G, NM_001368906.1:c.443A>G, NM_001368929.2:c.443A>G, NM_001368929.1:c.443A>G, NM_001368910.2:c.1094A>G, NM_001368910.1:c.1094A>G, NM_001368919.2:c.968A>G, NM_001368919.1:c.968A>G, NM_001368894.2:c.893A>G, NM_001368894.1:c.893A>G, NM_001368887.2:c.851A>G, NM_001368887.1:c.851A>G, NM_001368918.2:c.968A>G, NM_001368918.1:c.968A>G, NM_001368893.2:c.893A>G, NM_001368893.1:c.893A>G, NM_001368920.2:c.926A>G, NM_001368920.1:c.926A>G, NM_001258463.2:c.893A>G, NM_001258463.1:c.893A>G, NM_001368890.2:c.851A>G, NM_001368890.1:c.851A>G, NM_001368892.2:c.893A>G, NM_001368892.1:c.893A>G, NM_001368891.2:c.851A>G, NM_001368891.1:c.851A>G, NM_001368888.2:c.851A>G, NM_001368888.1:c.851A>G, NM_001258464.2:c.851A>G, NM_001258464.1:c.851A>G, NM_001368912.2:c.893A>G, NM_001368912.1:c.893A>G, NM_001310158.2:c.893A>G, NM_001310158.1:c.893A>G, NM_001368915.2:c.851A>G, NM_001368915.1:c.851A>G, NR_160917.2:n.1237A>G, NR_160917.1:n.1237A>G, NM_001368917.2:c.851A>G, NM_001368917.1:c.851A>G, NM_001368922.2:c.692A>G, NM_001368922.1:c.692A>G, NM_001368927.2:c.692A>G, NM_001368927.1:c.692A>G, NM_001368914.2:c.893A>G, NM_001368914.1:c.893A>G, NM_001368913.2:c.893A>G, NM_001368913.1:c.893A>G, NM_001368923.2:c.692A>G, NM_001368923.1:c.692A>G, NM_001368900.2:c.443A>G, NM_001368900.1:c.443A>G, NM_001368924.2:c.692A>G, NM_001368924.1:c.692A>G, NM_001368904.2:c.443A>G, NM_001368904.1:c.443A>G, NM_001368916.2:c.851A>G, NM_001368916.1:c.851A>G, NM_001368926.2:c.692A>G, NM_001368926.1:c.692A>G, NM_001368899.2:c.443A>G, NM_001368899.1:c.443A>G, NM_001368925.2:c.692A>G, NM_001368925.1:c.692A>G, NR_160916.2:n.1232A>G, NR_160916.1:n.1232A>G, NM_001368928.2:c.650A>G, NM_001368928.1:c.650A>G, NM_001368908.2:c.443A>G, NM_001368908.1:c.443A>G, NM_001368889.2:c.851A>G, NM_001368889.1:c.851A>G, NM_001368911.2:c.896A>G, NM_001368911.1:c.896A>G, NM_001368921.2:c.692A>G, NM_001368921.1:c.692A>G, NM_001368909.2:c.443A>G, NM_001368909.1:c.443A>G, NM_001368901.2:c.443A>G, NM_001368901.1:c.443A>G, NM_001368930.2:c.248A>G, NM_001368930.1:c.248A>G, NM_001310159.1:c.851A>G, NP_000271.1:p.His284Arg, NP_001595.2:p.His298Arg, NP_001245391.1:p.His298Arg, NP_001121084.1:p.His284Arg, NP_001245394.1:p.His284Arg, NP_001297090.1:p.His148Arg, NP_001297089.1:p.His148Arg, NP_001355831.1:p.His148Arg, NP_001355832.1:p.His148Arg, NP_001355836.1:p.His148Arg, NP_001355834.1:p.His148Arg, NP_001355835.1:p.His148Arg, NP_001355858.1:p.His148Arg, NP_001355839.1:p.His365Arg, NP_001355848.1:p.His323Arg, NP_001355823.1:p.His298Arg, NP_001355816.1:p.His284Arg, NP_001355847.1:p.His323Arg, NP_001355822.1:p.His298Arg, NP_001355849.1:p.His309Arg, NP_001245392.1:p.His298Arg, NP_001355819.1:p.His284Arg, NP_001355821.1:p.His298Arg, NP_001355820.1:p.His284Arg, NP_001355817.1:p.His284Arg, NP_001245393.1:p.His284Arg, NP_001355841.1:p.His298Arg, NP_001297087.1:p.His298Arg, NP_001355844.1:p.His284Arg, NP_001355846.1:p.His284Arg, NP_001355851.1:p.His231Arg, NP_001355856.1:p.His231Arg, NP_001355843.1:p.His298Arg, NP_001355842.1:p.His298Arg, NP_001355852.1:p.His231Arg, NP_001355829.1:p.His148Arg, NP_001355853.1:p.His231Arg, NP_001355833.1:p.His148Arg, NP_001355845.1:p.His284Arg, NP_001355855.1:p.His231Arg, NP_001355828.1:p.His148Arg, NP_001355854.1:p.His231Arg, NP_001355857.1:p.His217Arg, NP_001355837.1:p.His148Arg, NP_001355818.1:p.His284Arg, NP_001355840.1:p.His299Arg, NP_001355850.1:p.His231Arg, NP_001355838.1:p.His148Arg, NP_001355830.1:p.His148Arg, NP_001355859.1:p.His83Arg, NP_001297088.1:p.His284Arg

                                      19.

                                      rs1443607285 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:31801630 (GRCh38)
                                        11:31823178 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:31801629:G:A
                                        Gene:
                                        PAX6 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000011.10:g.31801630G>A, NC_000011.9:g.31823178G>A, NG_008679.1:g.21332C>T, NM_000280.6:c.288C>T, NM_000280.5:c.288C>T, NM_000280.4:c.288C>T, NM_001604.6:c.330C>T, NM_001604.5:c.330C>T, NM_001258462.3:c.330C>T, NM_001258462.2:c.330C>T, NM_001258462.1:c.330C>T, NM_001127612.3:c.288C>T, NM_001127612.2:c.288C>T, NM_001127612.1:c.288C>T, NM_001258465.3:c.288C>T, NM_001258465.2:c.288C>T, NM_001258465.1:c.288C>T, NM_001310161.3:c.-121C>T, NM_001310161.2:c.-121C>T, NM_001310161.1:c.-121C>T, NM_001310160.2:c.-452C>T, NM_001310160.1:c.-452C>T, NM_001368902.2:c.-452C>T, NM_001368902.1:c.-452C>T, NM_001368903.2:c.-121C>T, NM_001368903.1:c.-121C>T, NM_001368907.2:c.-121C>T, NM_001368907.1:c.-121C>T, NM_001368905.2:c.-452C>T, NM_001368905.1:c.-452C>T, NM_001368906.2:c.-121C>T, NM_001368906.1:c.-121C>T, NM_001368929.2:c.-121C>T, NM_001368929.1:c.-121C>T, NM_001368910.2:c.531C>T, NM_001368910.1:c.531C>T, NM_001368919.2:c.405C>T, NM_001368919.1:c.405C>T, NM_001368894.2:c.330C>T, NM_001368894.1:c.330C>T, NM_001368887.2:c.288C>T, NM_001368887.1:c.288C>T, NM_001368918.2:c.405C>T, NM_001368918.1:c.405C>T, NM_001368893.2:c.330C>T, NM_001368893.1:c.330C>T, NM_001368920.2:c.363C>T, NM_001368920.1:c.363C>T, NM_001258463.2:c.330C>T, NM_001258463.1:c.330C>T, NM_001368890.2:c.288C>T, NM_001368890.1:c.288C>T, NM_001368892.2:c.330C>T, NM_001368892.1:c.330C>T, NM_001368891.2:c.288C>T, NM_001368891.1:c.288C>T, NM_001368888.2:c.288C>T, NM_001368888.1:c.288C>T, NM_001258464.2:c.288C>T, NM_001258464.1:c.288C>T, NM_001368912.2:c.330C>T, NM_001368912.1:c.330C>T, NM_001310158.2:c.330C>T, NM_001310158.1:c.330C>T, NM_001368915.2:c.288C>T, NM_001368915.1:c.288C>T, NR_160917.2:n.757C>T, NR_160917.1:n.757C>T, NM_001368917.2:c.288C>T, NM_001368917.1:c.288C>T, NM_001368914.2:c.330C>T, NM_001368914.1:c.330C>T, NM_001368913.2:c.330C>T, NM_001368913.1:c.330C>T, NM_001368900.2:c.-121C>T, NM_001368900.1:c.-121C>T, NM_001368904.2:c.-121C>T, NM_001368904.1:c.-121C>T, NM_001368916.2:c.288C>T, NM_001368916.1:c.288C>T, NM_001368899.2:c.-121C>T, NM_001368899.1:c.-121C>T, NR_160916.2:n.752C>T, NR_160916.1:n.752C>T, NM_001368908.2:c.-121C>T, NM_001368908.1:c.-121C>T, NM_001368889.2:c.288C>T, NM_001368889.1:c.288C>T, NM_001368911.2:c.333C>T, NM_001368911.1:c.333C>T, NM_001368909.2:c.-121C>T, NM_001368909.1:c.-121C>T, NM_001368901.2:c.-121C>T, NM_001368901.1:c.-121C>T, NM_001310159.1:c.288C>T

                                        20.

                                        rs1443525166 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          11:31790763 (GRCh38)
                                          11:31812311 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:31790762:A:C,NC_000011.10:31790762:A:G
                                          Gene:
                                          PAX6 (Varview), ELP4 (Varview)
                                          Functional Consequence:
                                          intron_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          C=0./0 (GnomAD)
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.31790763A>C, NC_000011.10:g.31790763A>G, NC_000011.9:g.31812311A>C, NC_000011.9:g.31812311A>G, NG_008679.1:g.32199T>G, NG_008679.1:g.32199T>C, NM_000280.6:c.1130T>G, NM_000280.6:c.1130T>C, NM_000280.5:c.1130T>G, NM_000280.5:c.1130T>C, NM_000280.4:c.1130T>G, NM_000280.4:c.1130T>C, NM_001604.6:c.1172T>G, NM_001604.6:c.1172T>C, NM_001604.5:c.1172T>G, NM_001604.5:c.1172T>C, NM_001258462.3:c.1172T>G, NM_001258462.3:c.1172T>C, NM_001258462.2:c.1172T>G, NM_001258462.2:c.1172T>C, NM_001258462.1:c.1172T>G, NM_001258462.1:c.1172T>C, NM_001127612.3:c.1130T>G, NM_001127612.3:c.1130T>C, NM_001127612.2:c.1130T>G, NM_001127612.2:c.1130T>C, NM_001127612.1:c.1130T>G, NM_001127612.1:c.1130T>C, NM_001258465.3:c.1130T>G, NM_001258465.3:c.1130T>C, NM_001258465.2:c.1130T>G, NM_001258465.2:c.1130T>C, NM_001258465.1:c.1130T>G, NM_001258465.1:c.1130T>C, NM_001310161.3:c.722T>G, NM_001310161.3:c.722T>C, NM_001310161.2:c.722T>G, NM_001310161.2:c.722T>C, NM_001310161.1:c.722T>G, NM_001310161.1:c.722T>C, NM_001310160.2:c.722T>G, NM_001310160.2:c.722T>C, NM_001310160.1:c.722T>G, NM_001310160.1:c.722T>C, NM_001368902.2:c.722T>G, NM_001368902.2:c.722T>C, NM_001368902.1:c.722T>G, NM_001368902.1:c.722T>C, NM_001368903.2:c.722T>G, NM_001368903.2:c.722T>C, NM_001368903.1:c.722T>G, NM_001368903.1:c.722T>C, NM_001368907.2:c.722T>G, NM_001368907.2:c.722T>C, NM_001368907.1:c.722T>G, NM_001368907.1:c.722T>C, NM_001368905.2:c.722T>G, NM_001368905.2:c.722T>C, NM_001368905.1:c.722T>G, NM_001368905.1:c.722T>C, NM_001368906.2:c.722T>G, NM_001368906.2:c.722T>C, NM_001368906.1:c.722T>G, NM_001368906.1:c.722T>C, NM_001368910.2:c.1373T>G, NM_001368910.2:c.1373T>C, NM_001368910.1:c.1373T>G, NM_001368910.1:c.1373T>C, NM_001368919.2:c.1247T>G, NM_001368919.2:c.1247T>C, NM_001368919.1:c.1247T>G, NM_001368919.1:c.1247T>C, NM_001368894.2:c.1172T>G, NM_001368894.2:c.1172T>C, NM_001368894.1:c.1172T>G, NM_001368894.1:c.1172T>C, NM_001368887.2:c.1130T>G, NM_001368887.2:c.1130T>C, NM_001368887.1:c.1130T>G, NM_001368887.1:c.1130T>C, NM_001368918.2:c.1247T>G, NM_001368918.2:c.1247T>C, NM_001368918.1:c.1247T>G, NM_001368918.1:c.1247T>C, NM_001368893.2:c.1172T>G, NM_001368893.2:c.1172T>C, NM_001368893.1:c.1172T>G, NM_001368893.1:c.1172T>C, NM_001368920.2:c.1205T>G, NM_001368920.2:c.1205T>C, NM_001368920.1:c.1205T>G, NM_001368920.1:c.1205T>C, NM_001258463.2:c.1172T>G, NM_001258463.2:c.1172T>C, NM_001258463.1:c.1172T>G, NM_001258463.1:c.1172T>C, NM_001368890.2:c.1130T>G, NM_001368890.2:c.1130T>C, NM_001368890.1:c.1130T>G, NM_001368890.1:c.1130T>C, NM_001368892.2:c.1172T>G, NM_001368892.2:c.1172T>C, NM_001368892.1:c.1172T>G, NM_001368892.1:c.1172T>C, NM_001368891.2:c.1130T>G, NM_001368891.2:c.1130T>C, NM_001368891.1:c.1130T>G, NM_001368891.1:c.1130T>C, NM_001368888.2:c.1130T>G, NM_001368888.2:c.1130T>C, NM_001368888.1:c.1130T>G, NM_001368888.1:c.1130T>C, NM_001258464.2:c.1130T>G, NM_001258464.2:c.1130T>C, NM_001258464.1:c.1130T>G, NM_001258464.1:c.1130T>C, NM_001310158.2:c.1172T>G, NM_001310158.2:c.1172T>C, NM_001310158.1:c.1172T>G, NM_001310158.1:c.1172T>C, NR_160917.2:n.1516T>G, NR_160917.2:n.1516T>C, NR_160917.1:n.1516T>G, NR_160917.1:n.1516T>C, NM_001368922.2:c.971T>G, NM_001368922.2:c.971T>C, NM_001368922.1:c.971T>G, NM_001368922.1:c.971T>C, NM_001368927.2:c.971T>G, NM_001368927.2:c.971T>C, NM_001368927.1:c.971T>G, NM_001368927.1:c.971T>C, NM_001368923.2:c.971T>G, NM_001368923.2:c.971T>C, NM_001368923.1:c.971T>G, NM_001368923.1:c.971T>C, NM_001368900.2:c.722T>G, NM_001368900.2:c.722T>C, NM_001368900.1:c.722T>G, NM_001368900.1:c.722T>C, NM_001368924.2:c.971T>G, NM_001368924.2:c.971T>C, NM_001368924.1:c.971T>G, NM_001368924.1:c.971T>C, NM_001368904.2:c.722T>G, NM_001368904.2:c.722T>C, NM_001368904.1:c.722T>G, NM_001368904.1:c.722T>C, NM_001368926.2:c.971T>G, NM_001368926.2:c.971T>C, NM_001368926.1:c.971T>G, NM_001368926.1:c.971T>C, NM_001368899.2:c.722T>G, NM_001368899.2:c.722T>C, NM_001368899.1:c.722T>G, NM_001368899.1:c.722T>C, NM_001368925.2:c.971T>G, NM_001368925.2:c.971T>C, NM_001368925.1:c.971T>G, NM_001368925.1:c.971T>C, NM_001368928.2:c.929T>G, NM_001368928.2:c.929T>C, NM_001368928.1:c.929T>G, NM_001368928.1:c.929T>C, NM_001368908.2:c.722T>G, NM_001368908.2:c.722T>C, NM_001368908.1:c.722T>G, NM_001368908.1:c.722T>C, NM_001368889.2:c.1130T>G, NM_001368889.2:c.1130T>C, NM_001368889.1:c.1130T>G, NM_001368889.1:c.1130T>C, NM_001368909.2:c.722T>G, NM_001368909.2:c.722T>C, NM_001368909.1:c.722T>G, NM_001368909.1:c.722T>C, NM_001368901.2:c.722T>G, NM_001368901.2:c.722T>C, NM_001368901.1:c.722T>G, NM_001368901.1:c.722T>C, NM_001368930.2:c.527T>G, NM_001368930.2:c.527T>C, NM_001368930.1:c.527T>G, NM_001368930.1:c.527T>C, NP_000271.1:p.Met377Arg, NP_000271.1:p.Met377Thr, NP_001595.2:p.Met391Arg, NP_001595.2:p.Met391Thr, NP_001245391.1:p.Met391Arg, NP_001245391.1:p.Met391Thr, NP_001121084.1:p.Met377Arg, NP_001121084.1:p.Met377Thr, NP_001245394.1:p.Met377Arg, NP_001245394.1:p.Met377Thr, NP_001297090.1:p.Met241Arg, NP_001297090.1:p.Met241Thr, NP_001297089.1:p.Met241Arg, NP_001297089.1:p.Met241Thr, NP_001355831.1:p.Met241Arg, NP_001355831.1:p.Met241Thr, NP_001355832.1:p.Met241Arg, NP_001355832.1:p.Met241Thr, NP_001355836.1:p.Met241Arg, NP_001355836.1:p.Met241Thr, NP_001355834.1:p.Met241Arg, NP_001355834.1:p.Met241Thr, NP_001355835.1:p.Met241Arg, NP_001355835.1:p.Met241Thr, NP_001355839.1:p.Met458Arg, NP_001355839.1:p.Met458Thr, NP_001355848.1:p.Met416Arg, NP_001355848.1:p.Met416Thr, NP_001355823.1:p.Met391Arg, NP_001355823.1:p.Met391Thr, NP_001355816.1:p.Met377Arg, NP_001355816.1:p.Met377Thr, NP_001355847.1:p.Met416Arg, NP_001355847.1:p.Met416Thr, NP_001355822.1:p.Met391Arg, NP_001355822.1:p.Met391Thr, NP_001355849.1:p.Met402Arg, NP_001355849.1:p.Met402Thr, NP_001245392.1:p.Met391Arg, NP_001245392.1:p.Met391Thr, NP_001355819.1:p.Met377Arg, NP_001355819.1:p.Met377Thr, NP_001355821.1:p.Met391Arg, NP_001355821.1:p.Met391Thr, NP_001355820.1:p.Met377Arg, NP_001355820.1:p.Met377Thr, NP_001355817.1:p.Met377Arg, NP_001355817.1:p.Met377Thr, NP_001245393.1:p.Met377Arg, NP_001245393.1:p.Met377Thr, NP_001297087.1:p.Met391Arg, NP_001297087.1:p.Met391Thr, NP_001355851.1:p.Met324Arg, NP_001355851.1:p.Met324Thr, NP_001355856.1:p.Met324Arg, NP_001355856.1:p.Met324Thr, NP_001355852.1:p.Met324Arg, NP_001355852.1:p.Met324Thr, NP_001355829.1:p.Met241Arg, NP_001355829.1:p.Met241Thr, NP_001355853.1:p.Met324Arg, NP_001355853.1:p.Met324Thr, NP_001355833.1:p.Met241Arg, NP_001355833.1:p.Met241Thr, NP_001355855.1:p.Met324Arg, NP_001355855.1:p.Met324Thr, NP_001355828.1:p.Met241Arg, NP_001355828.1:p.Met241Thr, NP_001355854.1:p.Met324Arg, NP_001355854.1:p.Met324Thr, NP_001355857.1:p.Met310Arg, NP_001355857.1:p.Met310Thr, NP_001355837.1:p.Met241Arg, NP_001355837.1:p.Met241Thr, NP_001355818.1:p.Met377Arg, NP_001355818.1:p.Met377Thr, NP_001355838.1:p.Met241Arg, NP_001355838.1:p.Met241Thr, NP_001355830.1:p.Met241Arg, NP_001355830.1:p.Met241Thr, NP_001355859.1:p.Met176Arg, NP_001355859.1:p.Met176Thr

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