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Items: 1 to 20 of 819

1.

rs1490620836 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:107716729 (GRCh38)
    3:107435576 (GRCh37)
    Canonical SPDI:
    NC_000003.12:107716728:C:T
    Gene:
    BBX (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.107716729C>T, NC_000003.11:g.107435576C>T, NM_020235.7:c.285C>T, NM_020235.6:c.285C>T, XM_005247642.5:c.285C>T, XM_005247642.4:c.285C>T, XM_005247642.3:c.285C>T, XM_005247642.2:c.285C>T, XM_005247642.1:c.285C>T, XM_005247644.5:c.285C>T, XM_005247644.4:c.285C>T, XM_005247644.3:c.285C>T, XM_005247644.2:c.285C>T, XM_005247644.1:c.285C>T, XM_005247643.5:c.285C>T, XM_005247643.4:c.285C>T, XM_005247643.3:c.285C>T, XM_005247643.2:c.285C>T, XM_005247643.1:c.285C>T, XM_011513001.3:c.285C>T, XM_011513001.2:c.285C>T, XM_011513001.1:c.285C>T, NM_001142568.3:c.285C>T, NM_001142568.2:c.285C>T, XM_011513000.3:c.285C>T, XM_011513000.2:c.285C>T, XM_011513000.1:c.285C>T, XM_024453644.2:c.321C>T, XM_024453644.1:c.321C>T, XM_024453645.2:c.321C>T, XM_024453645.1:c.321C>T, XM_024453656.2:c.321C>T, XM_024453656.1:c.321C>T, XM_024453657.2:c.321C>T, XM_024453657.1:c.321C>T, XM_024453658.2:c.321C>T, XM_024453658.1:c.321C>T, XM_024453661.2:c.321C>T, XM_024453661.1:c.321C>T, XM_024453646.2:c.285C>T, XM_024453646.1:c.285C>T, XM_024453647.2:c.285C>T, XM_024453647.1:c.285C>T, XM_024453651.2:c.285C>T, XM_024453651.1:c.285C>T, XM_024453649.2:c.285C>T, XM_024453649.1:c.285C>T, XM_024453648.2:c.285C>T, XM_024453648.1:c.285C>T, XM_024453662.2:c.321C>T, XM_024453662.1:c.321C>T, XM_024453663.2:c.321C>T, XM_024453663.1:c.321C>T, XM_024453653.2:c.285C>T, XM_024453653.1:c.285C>T, XM_024453664.2:c.321C>T, XM_024453664.1:c.321C>T, XM_024453665.2:c.321C>T, XM_024453665.1:c.321C>T, XM_024453667.2:c.321C>T, XM_024453667.1:c.321C>T, NM_001276286.2:c.285C>T, NM_001276286.1:c.285C>T, XM_047448598.1:c.321C>T, XM_047448600.1:c.321C>T, XM_047448597.1:c.285C>T, XM_047448599.1:c.285C>T

    2.

    rs1486075466 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      3:107755673 (GRCh38)
      3:107474520 (GRCh37)
      Canonical SPDI:
      NC_000003.12:107755672:G:T
      Gene:
      BBX (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.107755673G>T, NC_000003.11:g.107474520G>T, NM_020235.7:c.901G>T, NM_020235.6:c.901G>T, XM_005247642.5:c.901G>T, XM_005247642.4:c.901G>T, XM_005247642.3:c.901G>T, XM_005247642.2:c.901G>T, XM_005247642.1:c.901G>T, XM_005247644.5:c.901G>T, XM_005247644.4:c.901G>T, XM_005247644.3:c.901G>T, XM_005247644.2:c.901G>T, XM_005247644.1:c.901G>T, XM_005247643.5:c.901G>T, XM_005247643.4:c.901G>T, XM_005247643.3:c.901G>T, XM_005247643.2:c.901G>T, XM_005247643.1:c.901G>T, XM_011513001.3:c.901G>T, XM_011513001.2:c.901G>T, XM_011513001.1:c.901G>T, NM_001142568.3:c.901G>T, NM_001142568.2:c.901G>T, XM_011513000.3:c.901G>T, XM_011513000.2:c.901G>T, XM_011513000.1:c.901G>T, XM_024453644.2:c.937G>T, XM_024453644.1:c.937G>T, XM_024453645.2:c.937G>T, XM_024453645.1:c.937G>T, XM_024453656.2:c.937G>T, XM_024453656.1:c.937G>T, XM_024453657.2:c.937G>T, XM_024453657.1:c.937G>T, XM_024453658.2:c.937G>T, XM_024453658.1:c.937G>T, XM_024453661.2:c.937G>T, XM_024453661.1:c.937G>T, XM_024453646.2:c.901G>T, XM_024453646.1:c.901G>T, XM_024453647.2:c.901G>T, XM_024453647.1:c.901G>T, XM_024453651.2:c.901G>T, XM_024453651.1:c.901G>T, XM_024453649.2:c.901G>T, XM_024453649.1:c.901G>T, XM_024453648.2:c.901G>T, XM_024453648.1:c.901G>T, XM_024453662.2:c.937G>T, XM_024453662.1:c.937G>T, XM_024453663.2:c.937G>T, XM_024453663.1:c.937G>T, XM_024453653.2:c.901G>T, XM_024453653.1:c.901G>T, XM_024453664.2:c.937G>T, XM_024453664.1:c.937G>T, XM_024453665.2:c.937G>T, XM_024453665.1:c.937G>T, XM_024453667.2:c.937G>T, XM_024453667.1:c.937G>T, NM_001276286.2:c.901G>T, NM_001276286.1:c.901G>T, XM_047448598.1:c.937G>T, XM_047448600.1:c.937G>T, XM_047448597.1:c.901G>T, XM_047448599.1:c.901G>T, NP_064620.2:p.Ala301Ser, XP_005247699.1:p.Ala301Ser, XP_005247701.1:p.Ala301Ser, XP_005247700.1:p.Ala301Ser, XP_011511303.1:p.Ala301Ser, NP_001136040.1:p.Ala301Ser, XP_011511302.1:p.Ala301Ser, XP_024309412.1:p.Ala313Ser, XP_024309413.1:p.Ala313Ser, XP_024309424.1:p.Ala313Ser, XP_024309425.1:p.Ala313Ser, XP_024309426.1:p.Ala313Ser, XP_024309429.1:p.Ala313Ser, XP_024309414.1:p.Ala301Ser, XP_024309415.1:p.Ala301Ser, XP_024309419.1:p.Ala301Ser, XP_024309417.1:p.Ala301Ser, XP_024309416.1:p.Ala301Ser, XP_024309430.1:p.Ala313Ser, XP_024309431.1:p.Ala313Ser, XP_024309421.1:p.Ala301Ser, XP_024309432.1:p.Ala313Ser, XP_024309433.1:p.Ala313Ser, XP_024309435.1:p.Ala313Ser, NP_001263215.1:p.Ala301Ser, XP_047304554.1:p.Ala313Ser, XP_047304556.1:p.Ala313Ser, XP_047304553.1:p.Ala301Ser, XP_047304555.1:p.Ala301Ser

      3.

      rs1486062934 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        3:107801198 (GRCh38)
        3:107520045 (GRCh37)
        Canonical SPDI:
        NC_000003.12:107801197:C:G
        Gene:
        BBX (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000014/2 (GnomAD)
        G=0.004886/3 (Vietnamese)
        HGVS:
        NC_000003.12:g.107801198C>G, NC_000003.11:g.107520045C>G, NM_020235.7:c.2565C>G, NM_020235.6:c.2565C>G, XM_005247642.5:c.2655C>G, XM_005247642.4:c.2655C>G, XM_005247642.3:c.2655C>G, XM_005247642.2:c.2655C>G, XM_005247642.1:c.2655C>G, XM_005247644.5:c.2655C>G, XM_005247644.4:c.2655C>G, XM_005247644.3:c.2655C>G, XM_005247644.2:c.2655C>G, XM_005247644.1:c.2655C>G, XM_005247643.5:c.2655C>G, XM_005247643.4:c.2655C>G, XM_005247643.3:c.2655C>G, XM_005247643.2:c.2655C>G, XM_005247643.1:c.2655C>G, XM_011513001.3:c.2655C>G, XM_011513001.2:c.2655C>G, XM_011513001.1:c.2655C>G, NM_001142568.3:c.2655C>G, NM_001142568.2:c.2655C>G, XM_011513000.3:c.2655C>G, XM_011513000.2:c.2655C>G, XM_011513000.1:c.2655C>G, XM_024453644.2:c.2691C>G, XM_024453644.1:c.2691C>G, XM_024453645.2:c.2682C>G, XM_024453645.1:c.2682C>G, XM_024453656.2:c.2613C>G, XM_024453656.1:c.2613C>G, XM_024453657.2:c.2601C>G, XM_024453657.1:c.2601C>G, XM_024453658.2:c.2592C>G, XM_024453658.1:c.2592C>G, XM_024453661.2:c.2523C>G, XM_024453661.1:c.2523C>G, XM_024453646.2:c.2655C>G, XM_024453646.1:c.2655C>G, XM_024453647.2:c.2655C>G, XM_024453647.1:c.2655C>G, XM_024453651.2:c.2655C>G, XM_024453651.1:c.2655C>G, XM_024453649.2:c.2655C>G, XM_024453649.1:c.2655C>G, XM_024453648.2:c.2655C>G, XM_024453648.1:c.2655C>G, XM_024453662.2:c.1682C>G, XM_024453662.1:c.1682C>G, XM_024453663.2:c.1673C>G, XM_024453663.1:c.1673C>G, XM_024453653.2:c.2655C>G, XM_024453653.1:c.2655C>G, XM_024453664.2:c.1604C>G, XM_024453664.1:c.1604C>G, XM_024453665.2:c.1592C>G, XM_024453665.1:c.1592C>G, XM_024453667.2:c.1514C>G, XM_024453667.1:c.1514C>G, NM_001276286.2:c.1646C>G, NM_001276286.1:c.1646C>G, XM_047448598.1:c.2604C>G, XM_047448600.1:c.2514C>G, XM_047448597.1:c.2655C>G, XM_047448599.1:c.2565C>G, NP_064620.2:p.Ser855Arg, XP_005247699.1:p.Ser885Arg, XP_005247701.1:p.Ser885Arg, XP_005247700.1:p.Ser885Arg, XP_011511303.1:p.Ser885Arg, NP_001136040.1:p.Ser885Arg, XP_011511302.1:p.Ser885Arg, XP_024309412.1:p.Ser897Arg, XP_024309413.1:p.Ser894Arg, XP_024309424.1:p.Ser871Arg, XP_024309425.1:p.Ser867Arg, XP_024309426.1:p.Ser864Arg, XP_024309429.1:p.Ser841Arg, XP_024309414.1:p.Ser885Arg, XP_024309415.1:p.Ser885Arg, XP_024309419.1:p.Ser885Arg, XP_024309417.1:p.Ser885Arg, XP_024309416.1:p.Ser885Arg, XP_024309430.1:p.Ala561Gly, XP_024309431.1:p.Ala558Gly, XP_024309421.1:p.Ser885Arg, XP_024309432.1:p.Ala535Gly, XP_024309433.1:p.Ala531Gly, XP_024309435.1:p.Ala505Gly, NP_001263215.1:p.Ala549Gly, XP_047304554.1:p.Ser868Arg, XP_047304556.1:p.Ser838Arg, XP_047304553.1:p.Ser885Arg, XP_047304555.1:p.Ser855Arg

        4.

        rs1485860928 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          3:107798560 (GRCh38)
          3:107517407 (GRCh37)
          Canonical SPDI:
          NC_000003.12:107798559:T:A
          Gene:
          BBX (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,intron_variant,synonymous_variant
          HGVS:
          NC_000003.12:g.107798560T>A, NC_000003.11:g.107517407T>A, NM_020235.7:c.2301T>A, NM_020235.6:c.2301T>A, XM_005247642.5:c.2391T>A, XM_005247642.4:c.2391T>A, XM_005247642.3:c.2391T>A, XM_005247642.2:c.2391T>A, XM_005247642.1:c.2391T>A, XM_005247644.5:c.2391T>A, XM_005247644.4:c.2391T>A, XM_005247644.3:c.2391T>A, XM_005247644.2:c.2391T>A, XM_005247644.1:c.2391T>A, XM_005247643.5:c.2391T>A, XM_005247643.4:c.2391T>A, XM_005247643.3:c.2391T>A, XM_005247643.2:c.2391T>A, XM_005247643.1:c.2391T>A, XM_011513001.3:c.2391T>A, XM_011513001.2:c.2391T>A, XM_011513001.1:c.2391T>A, NM_001142568.3:c.2391T>A, NM_001142568.2:c.2391T>A, XM_011513000.3:c.2391T>A, XM_011513000.2:c.2391T>A, XM_011513000.1:c.2391T>A, XM_024453644.2:c.2427T>A, XM_024453644.1:c.2427T>A, XM_024453645.2:c.2427T>A, XM_024453645.1:c.2427T>A, XM_024453657.2:c.2337T>A, XM_024453657.1:c.2337T>A, XM_024453658.2:c.2337T>A, XM_024453658.1:c.2337T>A, XM_024453646.2:c.2391T>A, XM_024453646.1:c.2391T>A, XM_024453647.2:c.2391T>A, XM_024453647.1:c.2391T>A, XM_024453651.2:c.2391T>A, XM_024453651.1:c.2391T>A, XM_024453649.2:c.2391T>A, XM_024453649.1:c.2391T>A, XM_024453648.2:c.2391T>A, XM_024453648.1:c.2391T>A, XM_024453662.2:c.1418T>A, XM_024453662.1:c.1418T>A, XM_024453663.2:c.1418T>A, XM_024453663.1:c.1418T>A, XM_024453653.2:c.2391T>A, XM_024453653.1:c.2391T>A, XM_024453665.2:c.1328T>A, XM_024453665.1:c.1328T>A, NM_001276286.2:c.1382T>A, NM_001276286.1:c.1382T>A, XM_047448597.1:c.2391T>A, XM_047448599.1:c.2301T>A, XP_024309430.1:p.Phe473Tyr, XP_024309431.1:p.Phe473Tyr, XP_024309433.1:p.Phe443Tyr, NP_001263215.1:p.Phe461Tyr

          5.

          rs1485474302 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            3:107710603 (GRCh38)
            3:107429450 (GRCh37)
            Canonical SPDI:
            NC_000003.12:107710602:A:G
            Gene:
            BBX (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.107710603A>G, NC_000003.11:g.107429450A>G, NM_020235.7:c.143A>G, NM_020235.6:c.143A>G, XM_005247642.5:c.143A>G, XM_005247642.4:c.143A>G, XM_005247642.3:c.143A>G, XM_005247642.2:c.143A>G, XM_005247642.1:c.143A>G, XM_005247644.5:c.143A>G, XM_005247644.4:c.143A>G, XM_005247644.3:c.143A>G, XM_005247644.2:c.143A>G, XM_005247644.1:c.143A>G, XM_005247643.5:c.143A>G, XM_005247643.4:c.143A>G, XM_005247643.3:c.143A>G, XM_005247643.2:c.143A>G, XM_005247643.1:c.143A>G, XM_011513001.3:c.143A>G, XM_011513001.2:c.143A>G, XM_011513001.1:c.143A>G, NM_001142568.3:c.143A>G, NM_001142568.2:c.143A>G, XM_011513000.3:c.143A>G, XM_011513000.2:c.143A>G, XM_011513000.1:c.143A>G, XM_024453644.2:c.179A>G, XM_024453644.1:c.179A>G, XM_024453645.2:c.179A>G, XM_024453645.1:c.179A>G, XM_024453656.2:c.179A>G, XM_024453656.1:c.179A>G, XM_024453657.2:c.179A>G, XM_024453657.1:c.179A>G, XM_024453658.2:c.179A>G, XM_024453658.1:c.179A>G, XM_024453661.2:c.179A>G, XM_024453661.1:c.179A>G, XM_024453646.2:c.143A>G, XM_024453646.1:c.143A>G, XM_024453647.2:c.143A>G, XM_024453647.1:c.143A>G, XM_024453651.2:c.143A>G, XM_024453651.1:c.143A>G, XM_024453649.2:c.143A>G, XM_024453649.1:c.143A>G, XM_024453648.2:c.143A>G, XM_024453648.1:c.143A>G, XM_024453662.2:c.179A>G, XM_024453662.1:c.179A>G, XM_024453663.2:c.179A>G, XM_024453663.1:c.179A>G, XM_024453653.2:c.143A>G, XM_024453653.1:c.143A>G, XM_024453664.2:c.179A>G, XM_024453664.1:c.179A>G, XM_024453665.2:c.179A>G, XM_024453665.1:c.179A>G, XM_024453667.2:c.179A>G, XM_024453667.1:c.179A>G, NM_001276286.2:c.143A>G, NM_001276286.1:c.143A>G, XM_047448598.1:c.179A>G, XM_047448600.1:c.179A>G, XM_047448597.1:c.143A>G, XM_047448599.1:c.143A>G, NP_064620.2:p.Glu48Gly, XP_005247699.1:p.Glu48Gly, XP_005247701.1:p.Glu48Gly, XP_005247700.1:p.Glu48Gly, XP_011511303.1:p.Glu48Gly, NP_001136040.1:p.Glu48Gly, XP_011511302.1:p.Glu48Gly, XP_024309412.1:p.Glu60Gly, XP_024309413.1:p.Glu60Gly, XP_024309424.1:p.Glu60Gly, XP_024309425.1:p.Glu60Gly, XP_024309426.1:p.Glu60Gly, XP_024309429.1:p.Glu60Gly, XP_024309414.1:p.Glu48Gly, XP_024309415.1:p.Glu48Gly, XP_024309419.1:p.Glu48Gly, XP_024309417.1:p.Glu48Gly, XP_024309416.1:p.Glu48Gly, XP_024309430.1:p.Glu60Gly, XP_024309431.1:p.Glu60Gly, XP_024309421.1:p.Glu48Gly, XP_024309432.1:p.Glu60Gly, XP_024309433.1:p.Glu60Gly, XP_024309435.1:p.Glu60Gly, NP_001263215.1:p.Glu48Gly, XP_047304554.1:p.Glu60Gly, XP_047304556.1:p.Glu60Gly, XP_047304553.1:p.Glu48Gly, XP_047304555.1:p.Glu48Gly

            6.

            rs1485402607 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              3:107789819 (GRCh38)
              3:107508666 (GRCh37)
              Canonical SPDI:
              NC_000003.12:107789818:C:A
              Gene:
              BBX (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,intron_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000006/1 (GnomAD_exomes)
              A=0.000014/2 (GnomAD)
              HGVS:
              NC_000003.12:g.107789819C>A, NC_000003.11:g.107508666C>A, XM_005247642.5:c.2236C>A, XM_005247642.4:c.2236C>A, XM_005247642.3:c.2236C>A, XM_005247642.2:c.2236C>A, XM_005247642.1:c.2236C>A, XM_005247644.5:c.2236C>A, XM_005247644.4:c.2236C>A, XM_005247644.3:c.2236C>A, XM_005247644.2:c.2236C>A, XM_005247644.1:c.2236C>A, XM_005247643.5:c.2236C>A, XM_005247643.4:c.2236C>A, XM_005247643.3:c.2236C>A, XM_005247643.2:c.2236C>A, XM_005247643.1:c.2236C>A, XM_011513001.3:c.2236C>A, XM_011513001.2:c.2236C>A, XM_011513001.1:c.2236C>A, NM_001142568.3:c.2236C>A, NM_001142568.2:c.2236C>A, XM_011513000.3:c.2236C>A, XM_011513000.2:c.2236C>A, XM_011513000.1:c.2236C>A, XM_024453644.2:c.2272C>A, XM_024453644.1:c.2272C>A, XM_024453645.2:c.2272C>A, XM_024453645.1:c.2272C>A, XM_024453656.2:c.2272C>A, XM_024453656.1:c.2272C>A, XM_024453646.2:c.2236C>A, XM_024453646.1:c.2236C>A, XM_024453647.2:c.2236C>A, XM_024453647.1:c.2236C>A, XM_024453651.2:c.2236C>A, XM_024453651.1:c.2236C>A, XM_024453649.2:c.2236C>A, XM_024453649.1:c.2236C>A, XM_024453648.2:c.2236C>A, XM_024453648.1:c.2236C>A, XM_024453662.2:c.1263C>A, XM_024453662.1:c.1263C>A, XM_024453663.2:c.1263C>A, XM_024453663.1:c.1263C>A, XM_024453653.2:c.2236C>A, XM_024453653.1:c.2236C>A, XM_024453664.2:c.1263C>A, XM_024453664.1:c.1263C>A, NM_001276286.2:c.1227C>A, NM_001276286.1:c.1227C>A, XM_047448598.1:c.2272C>A, XM_047448597.1:c.2236C>A, XP_005247699.1:p.His746Asn, XP_005247701.1:p.His746Asn, XP_005247700.1:p.His746Asn, XP_011511303.1:p.His746Asn, NP_001136040.1:p.His746Asn, XP_011511302.1:p.His746Asn, XP_024309412.1:p.His758Asn, XP_024309413.1:p.His758Asn, XP_024309424.1:p.His758Asn, XP_024309414.1:p.His746Asn, XP_024309415.1:p.His746Asn, XP_024309419.1:p.His746Asn, XP_024309417.1:p.His746Asn, XP_024309416.1:p.His746Asn, XP_024309421.1:p.His746Asn, XP_047304554.1:p.His758Asn, XP_047304553.1:p.His746Asn

              7.

              rs1483726911 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                3:107791282 (GRCh38)
                3:107510129 (GRCh37)
                Canonical SPDI:
                NC_000003.12:107791281:C:T
                Gene:
                BBX (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_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_000003.12:g.107791282C>T, NC_000003.11:g.107510129C>T, NM_020235.7:c.2246C>T, NM_020235.6:c.2246C>T, XM_005247642.5:c.2336C>T, XM_005247642.4:c.2336C>T, XM_005247642.3:c.2336C>T, XM_005247642.2:c.2336C>T, XM_005247642.1:c.2336C>T, XM_005247644.5:c.2336C>T, XM_005247644.4:c.2336C>T, XM_005247644.3:c.2336C>T, XM_005247644.2:c.2336C>T, XM_005247644.1:c.2336C>T, XM_005247643.5:c.2336C>T, XM_005247643.4:c.2336C>T, XM_005247643.3:c.2336C>T, XM_005247643.2:c.2336C>T, XM_005247643.1:c.2336C>T, XM_011513001.3:c.2336C>T, XM_011513001.2:c.2336C>T, XM_011513001.1:c.2336C>T, NM_001142568.3:c.2336C>T, NM_001142568.2:c.2336C>T, XM_011513000.3:c.2336C>T, XM_011513000.2:c.2336C>T, XM_011513000.1:c.2336C>T, XM_024453644.2:c.2372C>T, XM_024453644.1:c.2372C>T, XM_024453645.2:c.2372C>T, XM_024453645.1:c.2372C>T, XM_024453656.2:c.2372C>T, XM_024453656.1:c.2372C>T, XM_024453657.2:c.2282C>T, XM_024453657.1:c.2282C>T, XM_024453658.2:c.2282C>T, XM_024453658.1:c.2282C>T, XM_024453661.2:c.2282C>T, XM_024453661.1:c.2282C>T, XM_024453646.2:c.2336C>T, XM_024453646.1:c.2336C>T, XM_024453647.2:c.2336C>T, XM_024453647.1:c.2336C>T, XM_024453651.2:c.2336C>T, XM_024453651.1:c.2336C>T, XM_024453649.2:c.2336C>T, XM_024453649.1:c.2336C>T, XM_024453648.2:c.2336C>T, XM_024453648.1:c.2336C>T, XM_024453662.2:c.1363C>T, XM_024453662.1:c.1363C>T, XM_024453663.2:c.1363C>T, XM_024453663.1:c.1363C>T, XM_024453653.2:c.2336C>T, XM_024453653.1:c.2336C>T, XM_024453664.2:c.1363C>T, XM_024453664.1:c.1363C>T, XM_024453665.2:c.1273C>T, XM_024453665.1:c.1273C>T, XM_024453667.2:c.1273C>T, XM_024453667.1:c.1273C>T, NM_001276286.2:c.1327C>T, NM_001276286.1:c.1327C>T, XM_047448598.1:c.2372C>T, XM_047448600.1:c.2282C>T, XM_047448597.1:c.2336C>T, XM_047448599.1:c.2246C>T, NP_064620.2:p.Ala749Val, XP_005247699.1:p.Ala779Val, XP_005247701.1:p.Ala779Val, XP_005247700.1:p.Ala779Val, XP_011511303.1:p.Ala779Val, NP_001136040.1:p.Ala779Val, XP_011511302.1:p.Ala779Val, XP_024309412.1:p.Ala791Val, XP_024309413.1:p.Ala791Val, XP_024309424.1:p.Ala791Val, XP_024309425.1:p.Ala761Val, XP_024309426.1:p.Ala761Val, XP_024309429.1:p.Ala761Val, XP_024309414.1:p.Ala779Val, XP_024309415.1:p.Ala779Val, XP_024309419.1:p.Ala779Val, XP_024309417.1:p.Ala779Val, XP_024309416.1:p.Ala779Val, XP_024309430.1:p.Pro455Ser, XP_024309431.1:p.Pro455Ser, XP_024309421.1:p.Ala779Val, XP_024309432.1:p.Pro455Ser, XP_024309433.1:p.Pro425Ser, XP_024309435.1:p.Pro425Ser, NP_001263215.1:p.Pro443Ser, XP_047304554.1:p.Ala791Val, XP_047304556.1:p.Ala761Val, XP_047304553.1:p.Ala779Val, XP_047304555.1:p.Ala749Val

                8.

                rs1483667453 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:107773465 (GRCh38)
                  3:107492312 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:107773464:G:A
                  Gene:
                  BBX (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000066/1 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  A=0.000223/1 (Estonian)
                  HGVS:
                  NC_000003.12:g.107773465G>A, NC_000003.11:g.107492312G>A, NM_020235.7:c.1744G>A, NM_020235.6:c.1744G>A, XM_005247642.5:c.1744G>A, XM_005247642.4:c.1744G>A, XM_005247642.3:c.1744G>A, XM_005247642.2:c.1744G>A, XM_005247642.1:c.1744G>A, XM_005247644.5:c.1744G>A, XM_005247644.4:c.1744G>A, XM_005247644.3:c.1744G>A, XM_005247644.2:c.1744G>A, XM_005247644.1:c.1744G>A, XM_005247643.5:c.1744G>A, XM_005247643.4:c.1744G>A, XM_005247643.3:c.1744G>A, XM_005247643.2:c.1744G>A, XM_005247643.1:c.1744G>A, XM_011513001.3:c.1744G>A, XM_011513001.2:c.1744G>A, XM_011513001.1:c.1744G>A, NM_001142568.3:c.1744G>A, NM_001142568.2:c.1744G>A, XM_011513000.3:c.1744G>A, XM_011513000.2:c.1744G>A, XM_011513000.1:c.1744G>A, XM_024453644.2:c.1780G>A, XM_024453644.1:c.1780G>A, XM_024453645.2:c.1780G>A, XM_024453645.1:c.1780G>A, XM_024453656.2:c.1780G>A, XM_024453656.1:c.1780G>A, XM_024453657.2:c.1780G>A, XM_024453657.1:c.1780G>A, XM_024453658.2:c.1780G>A, XM_024453658.1:c.1780G>A, XM_024453661.2:c.1780G>A, XM_024453661.1:c.1780G>A, XM_024453646.2:c.1744G>A, XM_024453646.1:c.1744G>A, XM_024453647.2:c.1744G>A, XM_024453647.1:c.1744G>A, XM_024453651.2:c.1744G>A, XM_024453651.1:c.1744G>A, XM_024453649.2:c.1744G>A, XM_024453649.1:c.1744G>A, XM_024453648.2:c.1744G>A, XM_024453648.1:c.1744G>A, XM_024453653.2:c.1744G>A, XM_024453653.1:c.1744G>A, XM_047448598.1:c.1780G>A, XM_047448600.1:c.1780G>A, XM_047448597.1:c.1744G>A, XM_047448599.1:c.1744G>A, NP_064620.2:p.Asp582Asn, XP_005247699.1:p.Asp582Asn, XP_005247701.1:p.Asp582Asn, XP_005247700.1:p.Asp582Asn, XP_011511303.1:p.Asp582Asn, NP_001136040.1:p.Asp582Asn, XP_011511302.1:p.Asp582Asn, XP_024309412.1:p.Asp594Asn, XP_024309413.1:p.Asp594Asn, XP_024309424.1:p.Asp594Asn, XP_024309425.1:p.Asp594Asn, XP_024309426.1:p.Asp594Asn, XP_024309429.1:p.Asp594Asn, XP_024309414.1:p.Asp582Asn, XP_024309415.1:p.Asp582Asn, XP_024309419.1:p.Asp582Asn, XP_024309417.1:p.Asp582Asn, XP_024309416.1:p.Asp582Asn, XP_024309421.1:p.Asp582Asn, XP_047304554.1:p.Asp594Asn, XP_047304556.1:p.Asp594Asn, XP_047304553.1:p.Asp582Asn, XP_047304555.1:p.Asp582Asn

                  9.

                  rs1483493215 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->GG [Show Flanks]
                    Chromosome:
                    3:107716648 (GRCh38)
                    3:107435496 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:107716648:G:GGG
                    Gene:
                    BBX (Varview)
                    Functional Consequence:
                    coding_sequence_variant,frameshift_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GGG=0./0 (ALFA)
                    GG=0.000004/1 (TOPMED)
                    GG=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000003.12:g.107716649_107716650insGG, NC_000003.11:g.107435496_107435497insGG, NM_020235.7:c.205_206insGG, NM_020235.6:c.205_206insGG, XM_005247642.5:c.205_206insGG, XM_005247642.4:c.205_206insGG, XM_005247642.3:c.205_206insGG, XM_005247642.2:c.205_206insGG, XM_005247642.1:c.205_206insGG, XM_005247644.5:c.205_206insGG, XM_005247644.4:c.205_206insGG, XM_005247644.3:c.205_206insGG, XM_005247644.2:c.205_206insGG, XM_005247644.1:c.205_206insGG, XM_005247643.5:c.205_206insGG, XM_005247643.4:c.205_206insGG, XM_005247643.3:c.205_206insGG, XM_005247643.2:c.205_206insGG, XM_005247643.1:c.205_206insGG, XM_011513001.3:c.205_206insGG, XM_011513001.2:c.205_206insGG, XM_011513001.1:c.205_206insGG, NM_001142568.3:c.205_206insGG, NM_001142568.2:c.205_206insGG, XM_011513000.3:c.205_206insGG, XM_011513000.2:c.205_206insGG, XM_011513000.1:c.205_206insGG, XM_024453644.2:c.241_242insGG, XM_024453644.1:c.241_242insGG, XM_024453645.2:c.241_242insGG, XM_024453645.1:c.241_242insGG, XM_024453656.2:c.241_242insGG, XM_024453656.1:c.241_242insGG, XM_024453657.2:c.241_242insGG, XM_024453657.1:c.241_242insGG, XM_024453658.2:c.241_242insGG, XM_024453658.1:c.241_242insGG, XM_024453661.2:c.241_242insGG, XM_024453661.1:c.241_242insGG, XM_024453646.2:c.205_206insGG, XM_024453646.1:c.205_206insGG, XM_024453647.2:c.205_206insGG, XM_024453647.1:c.205_206insGG, XM_024453651.2:c.205_206insGG, XM_024453651.1:c.205_206insGG, XM_024453649.2:c.205_206insGG, XM_024453649.1:c.205_206insGG, XM_024453648.2:c.205_206insGG, XM_024453648.1:c.205_206insGG, XM_024453662.2:c.241_242insGG, XM_024453662.1:c.241_242insGG, XM_024453663.2:c.241_242insGG, XM_024453663.1:c.241_242insGG, XM_024453653.2:c.205_206insGG, XM_024453653.1:c.205_206insGG, XM_024453664.2:c.241_242insGG, XM_024453664.1:c.241_242insGG, XM_024453665.2:c.241_242insGG, XM_024453665.1:c.241_242insGG, XM_024453667.2:c.241_242insGG, XM_024453667.1:c.241_242insGG, NM_001276286.2:c.205_206insGG, NM_001276286.1:c.205_206insGG, XM_047448598.1:c.241_242insGG, XM_047448600.1:c.241_242insGG, XM_047448597.1:c.205_206insGG, XM_047448599.1:c.205_206insGG, NP_064620.2:p.Glu69fs, XP_005247699.1:p.Glu69fs, XP_005247701.1:p.Glu69fs, XP_005247700.1:p.Glu69fs, XP_011511303.1:p.Glu69fs, NP_001136040.1:p.Glu69fs, XP_011511302.1:p.Glu69fs, XP_024309412.1:p.Glu81fs, XP_024309413.1:p.Glu81fs, XP_024309424.1:p.Glu81fs, XP_024309425.1:p.Glu81fs, XP_024309426.1:p.Glu81fs, XP_024309429.1:p.Glu81fs, XP_024309414.1:p.Glu69fs, XP_024309415.1:p.Glu69fs, XP_024309419.1:p.Glu69fs, XP_024309417.1:p.Glu69fs, XP_024309416.1:p.Glu69fs, XP_024309430.1:p.Glu81fs, XP_024309431.1:p.Glu81fs, XP_024309421.1:p.Glu69fs, XP_024309432.1:p.Glu81fs, XP_024309433.1:p.Glu81fs, XP_024309435.1:p.Glu81fs, NP_001263215.1:p.Glu69fs, XP_047304554.1:p.Glu81fs, XP_047304556.1:p.Glu81fs, XP_047304553.1:p.Glu69fs, XP_047304555.1:p.Glu69fs

                    10.

                    rs1481578138 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:107710610 (GRCh38)
                      3:107429457 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:107710609:G:A
                      Gene:
                      BBX (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000007/1 (GnomAD)
                      A=0.000008/2 (TOPMED)
                      A=0.000142/2 (TOMMO)
                      HGVS:
                      NC_000003.12:g.107710610G>A, NC_000003.11:g.107429457G>A, NM_020235.7:c.150G>A, NM_020235.6:c.150G>A, XM_005247642.5:c.150G>A, XM_005247642.4:c.150G>A, XM_005247642.3:c.150G>A, XM_005247642.2:c.150G>A, XM_005247642.1:c.150G>A, XM_005247644.5:c.150G>A, XM_005247644.4:c.150G>A, XM_005247644.3:c.150G>A, XM_005247644.2:c.150G>A, XM_005247644.1:c.150G>A, XM_005247643.5:c.150G>A, XM_005247643.4:c.150G>A, XM_005247643.3:c.150G>A, XM_005247643.2:c.150G>A, XM_005247643.1:c.150G>A, XM_011513001.3:c.150G>A, XM_011513001.2:c.150G>A, XM_011513001.1:c.150G>A, NM_001142568.3:c.150G>A, NM_001142568.2:c.150G>A, XM_011513000.3:c.150G>A, XM_011513000.2:c.150G>A, XM_011513000.1:c.150G>A, XM_024453644.2:c.186G>A, XM_024453644.1:c.186G>A, XM_024453645.2:c.186G>A, XM_024453645.1:c.186G>A, XM_024453656.2:c.186G>A, XM_024453656.1:c.186G>A, XM_024453657.2:c.186G>A, XM_024453657.1:c.186G>A, XM_024453658.2:c.186G>A, XM_024453658.1:c.186G>A, XM_024453661.2:c.186G>A, XM_024453661.1:c.186G>A, XM_024453646.2:c.150G>A, XM_024453646.1:c.150G>A, XM_024453647.2:c.150G>A, XM_024453647.1:c.150G>A, XM_024453651.2:c.150G>A, XM_024453651.1:c.150G>A, XM_024453649.2:c.150G>A, XM_024453649.1:c.150G>A, XM_024453648.2:c.150G>A, XM_024453648.1:c.150G>A, XM_024453662.2:c.186G>A, XM_024453662.1:c.186G>A, XM_024453663.2:c.186G>A, XM_024453663.1:c.186G>A, XM_024453653.2:c.150G>A, XM_024453653.1:c.150G>A, XM_024453664.2:c.186G>A, XM_024453664.1:c.186G>A, XM_024453665.2:c.186G>A, XM_024453665.1:c.186G>A, XM_024453667.2:c.186G>A, XM_024453667.1:c.186G>A, NM_001276286.2:c.150G>A, NM_001276286.1:c.150G>A, XM_047448598.1:c.186G>A, XM_047448600.1:c.186G>A, XM_047448597.1:c.150G>A, XM_047448599.1:c.150G>A

                      11.

                      rs1481132564 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        3:107791274 (GRCh38)
                        3:107510121 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:107791273:C:T
                        Gene:
                        BBX (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000023/6 (TOPMED)
                        T=0.000029/4 (GnomAD)
                        HGVS:
                        NC_000003.12:g.107791274C>T, NC_000003.11:g.107510121C>T, NM_020235.7:c.2238C>T, NM_020235.6:c.2238C>T, XM_005247642.5:c.2328C>T, XM_005247642.4:c.2328C>T, XM_005247642.3:c.2328C>T, XM_005247642.2:c.2328C>T, XM_005247642.1:c.2328C>T, XM_005247644.5:c.2328C>T, XM_005247644.4:c.2328C>T, XM_005247644.3:c.2328C>T, XM_005247644.2:c.2328C>T, XM_005247644.1:c.2328C>T, XM_005247643.5:c.2328C>T, XM_005247643.4:c.2328C>T, XM_005247643.3:c.2328C>T, XM_005247643.2:c.2328C>T, XM_005247643.1:c.2328C>T, XM_011513001.3:c.2328C>T, XM_011513001.2:c.2328C>T, XM_011513001.1:c.2328C>T, NM_001142568.3:c.2328C>T, NM_001142568.2:c.2328C>T, XM_011513000.3:c.2328C>T, XM_011513000.2:c.2328C>T, XM_011513000.1:c.2328C>T, XM_024453644.2:c.2364C>T, XM_024453644.1:c.2364C>T, XM_024453645.2:c.2364C>T, XM_024453645.1:c.2364C>T, XM_024453656.2:c.2364C>T, XM_024453656.1:c.2364C>T, XM_024453657.2:c.2274C>T, XM_024453657.1:c.2274C>T, XM_024453658.2:c.2274C>T, XM_024453658.1:c.2274C>T, XM_024453661.2:c.2274C>T, XM_024453661.1:c.2274C>T, XM_024453646.2:c.2328C>T, XM_024453646.1:c.2328C>T, XM_024453647.2:c.2328C>T, XM_024453647.1:c.2328C>T, XM_024453651.2:c.2328C>T, XM_024453651.1:c.2328C>T, XM_024453649.2:c.2328C>T, XM_024453649.1:c.2328C>T, XM_024453648.2:c.2328C>T, XM_024453648.1:c.2328C>T, XM_024453662.2:c.1355C>T, XM_024453662.1:c.1355C>T, XM_024453663.2:c.1355C>T, XM_024453663.1:c.1355C>T, XM_024453653.2:c.2328C>T, XM_024453653.1:c.2328C>T, XM_024453664.2:c.1355C>T, XM_024453664.1:c.1355C>T, XM_024453665.2:c.1265C>T, XM_024453665.1:c.1265C>T, XM_024453667.2:c.1265C>T, XM_024453667.1:c.1265C>T, NM_001276286.2:c.1319C>T, NM_001276286.1:c.1319C>T, XM_047448598.1:c.2364C>T, XM_047448600.1:c.2274C>T, XM_047448597.1:c.2328C>T, XM_047448599.1:c.2238C>T, XP_024309430.1:p.Ser452Phe, XP_024309431.1:p.Ser452Phe, XP_024309432.1:p.Ser452Phe, XP_024309433.1:p.Ser422Phe, XP_024309435.1:p.Ser422Phe, NP_001263215.1:p.Ser440Phe

                        12.

                        rs1480548180 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:107744651 (GRCh38)
                          3:107463498 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:107744650:C:T
                          Gene:
                          BBX (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.107744651C>T, NC_000003.11:g.107463498C>T, NM_020235.7:c.691C>T, NM_020235.6:c.691C>T, XM_005247642.5:c.691C>T, XM_005247642.4:c.691C>T, XM_005247642.3:c.691C>T, XM_005247642.2:c.691C>T, XM_005247642.1:c.691C>T, XM_005247644.5:c.691C>T, XM_005247644.4:c.691C>T, XM_005247644.3:c.691C>T, XM_005247644.2:c.691C>T, XM_005247644.1:c.691C>T, XM_005247643.5:c.691C>T, XM_005247643.4:c.691C>T, XM_005247643.3:c.691C>T, XM_005247643.2:c.691C>T, XM_005247643.1:c.691C>T, XM_011513001.3:c.691C>T, XM_011513001.2:c.691C>T, XM_011513001.1:c.691C>T, NM_001142568.3:c.691C>T, NM_001142568.2:c.691C>T, XM_011513000.3:c.691C>T, XM_011513000.2:c.691C>T, XM_011513000.1:c.691C>T, XM_024453644.2:c.727C>T, XM_024453644.1:c.727C>T, XM_024453645.2:c.727C>T, XM_024453645.1:c.727C>T, XM_024453656.2:c.727C>T, XM_024453656.1:c.727C>T, XM_024453657.2:c.727C>T, XM_024453657.1:c.727C>T, XM_024453658.2:c.727C>T, XM_024453658.1:c.727C>T, XM_024453661.2:c.727C>T, XM_024453661.1:c.727C>T, XM_024453646.2:c.691C>T, XM_024453646.1:c.691C>T, XM_024453647.2:c.691C>T, XM_024453647.1:c.691C>T, XM_024453651.2:c.691C>T, XM_024453651.1:c.691C>T, XM_024453649.2:c.691C>T, XM_024453649.1:c.691C>T, XM_024453648.2:c.691C>T, XM_024453648.1:c.691C>T, XM_024453662.2:c.727C>T, XM_024453662.1:c.727C>T, XM_024453663.2:c.727C>T, XM_024453663.1:c.727C>T, XM_024453653.2:c.691C>T, XM_024453653.1:c.691C>T, XM_024453664.2:c.727C>T, XM_024453664.1:c.727C>T, XM_024453665.2:c.727C>T, XM_024453665.1:c.727C>T, XM_024453667.2:c.727C>T, XM_024453667.1:c.727C>T, NM_001276286.2:c.691C>T, NM_001276286.1:c.691C>T, XM_047448598.1:c.727C>T, XM_047448600.1:c.727C>T, XM_047448597.1:c.691C>T, XM_047448599.1:c.691C>T, NP_064620.2:p.Pro231Ser, XP_005247699.1:p.Pro231Ser, XP_005247701.1:p.Pro231Ser, XP_005247700.1:p.Pro231Ser, XP_011511303.1:p.Pro231Ser, NP_001136040.1:p.Pro231Ser, XP_011511302.1:p.Pro231Ser, XP_024309412.1:p.Pro243Ser, XP_024309413.1:p.Pro243Ser, XP_024309424.1:p.Pro243Ser, XP_024309425.1:p.Pro243Ser, XP_024309426.1:p.Pro243Ser, XP_024309429.1:p.Pro243Ser, XP_024309414.1:p.Pro231Ser, XP_024309415.1:p.Pro231Ser, XP_024309419.1:p.Pro231Ser, XP_024309417.1:p.Pro231Ser, XP_024309416.1:p.Pro231Ser, XP_024309430.1:p.Pro243Ser, XP_024309431.1:p.Pro243Ser, XP_024309421.1:p.Pro231Ser, XP_024309432.1:p.Pro243Ser, XP_024309433.1:p.Pro243Ser, XP_024309435.1:p.Pro243Ser, NP_001263215.1:p.Pro231Ser, XP_047304554.1:p.Pro243Ser, XP_047304556.1:p.Pro243Ser, XP_047304553.1:p.Pro231Ser, XP_047304555.1:p.Pro231Ser

                          13.

                          rs1478528015 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            3:107772885 (GRCh38)
                            3:107491732 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:107772884:T:G
                            Gene:
                            BBX (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.107772885T>G, NC_000003.11:g.107491732T>G, NM_020235.7:c.1164T>G, NM_020235.6:c.1164T>G, XM_005247642.5:c.1164T>G, XM_005247642.4:c.1164T>G, XM_005247642.3:c.1164T>G, XM_005247642.2:c.1164T>G, XM_005247642.1:c.1164T>G, XM_005247644.5:c.1164T>G, XM_005247644.4:c.1164T>G, XM_005247644.3:c.1164T>G, XM_005247644.2:c.1164T>G, XM_005247644.1:c.1164T>G, XM_005247643.5:c.1164T>G, XM_005247643.4:c.1164T>G, XM_005247643.3:c.1164T>G, XM_005247643.2:c.1164T>G, XM_005247643.1:c.1164T>G, XM_011513001.3:c.1164T>G, XM_011513001.2:c.1164T>G, XM_011513001.1:c.1164T>G, NM_001142568.3:c.1164T>G, NM_001142568.2:c.1164T>G, XM_011513000.3:c.1164T>G, XM_011513000.2:c.1164T>G, XM_011513000.1:c.1164T>G, XM_024453644.2:c.1200T>G, XM_024453644.1:c.1200T>G, XM_024453645.2:c.1200T>G, XM_024453645.1:c.1200T>G, XM_024453656.2:c.1200T>G, XM_024453656.1:c.1200T>G, XM_024453657.2:c.1200T>G, XM_024453657.1:c.1200T>G, XM_024453658.2:c.1200T>G, XM_024453658.1:c.1200T>G, XM_024453661.2:c.1200T>G, XM_024453661.1:c.1200T>G, XM_024453646.2:c.1164T>G, XM_024453646.1:c.1164T>G, XM_024453647.2:c.1164T>G, XM_024453647.1:c.1164T>G, XM_024453651.2:c.1164T>G, XM_024453651.1:c.1164T>G, XM_024453649.2:c.1164T>G, XM_024453649.1:c.1164T>G, XM_024453648.2:c.1164T>G, XM_024453648.1:c.1164T>G, XM_024453653.2:c.1164T>G, XM_024453653.1:c.1164T>G, XM_047448598.1:c.1200T>G, XM_047448600.1:c.1200T>G, XM_047448597.1:c.1164T>G, XM_047448599.1:c.1164T>G, NP_064620.2:p.Asp388Glu, XP_005247699.1:p.Asp388Glu, XP_005247701.1:p.Asp388Glu, XP_005247700.1:p.Asp388Glu, XP_011511303.1:p.Asp388Glu, NP_001136040.1:p.Asp388Glu, XP_011511302.1:p.Asp388Glu, XP_024309412.1:p.Asp400Glu, XP_024309413.1:p.Asp400Glu, XP_024309424.1:p.Asp400Glu, XP_024309425.1:p.Asp400Glu, XP_024309426.1:p.Asp400Glu, XP_024309429.1:p.Asp400Glu, XP_024309414.1:p.Asp388Glu, XP_024309415.1:p.Asp388Glu, XP_024309419.1:p.Asp388Glu, XP_024309417.1:p.Asp388Glu, XP_024309416.1:p.Asp388Glu, XP_024309421.1:p.Asp388Glu, XP_047304554.1:p.Asp400Glu, XP_047304556.1:p.Asp400Glu, XP_047304553.1:p.Asp388Glu, XP_047304555.1:p.Asp388Glu

                            14.

                            rs1475550309 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              3:107801146 (GRCh38)
                              3:107519993 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:107801145:C:T
                              Gene:
                              BBX (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,stop_gained
                              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_000003.12:g.107801146C>T, NC_000003.11:g.107519993C>T, NM_020235.7:c.2513C>T, NM_020235.6:c.2513C>T, XM_005247642.5:c.2603C>T, XM_005247642.4:c.2603C>T, XM_005247642.3:c.2603C>T, XM_005247642.2:c.2603C>T, XM_005247642.1:c.2603C>T, XM_005247644.5:c.2603C>T, XM_005247644.4:c.2603C>T, XM_005247644.3:c.2603C>T, XM_005247644.2:c.2603C>T, XM_005247644.1:c.2603C>T, XM_005247643.5:c.2603C>T, XM_005247643.4:c.2603C>T, XM_005247643.3:c.2603C>T, XM_005247643.2:c.2603C>T, XM_005247643.1:c.2603C>T, XM_011513001.3:c.2603C>T, XM_011513001.2:c.2603C>T, XM_011513001.1:c.2603C>T, NM_001142568.3:c.2603C>T, NM_001142568.2:c.2603C>T, XM_011513000.3:c.2603C>T, XM_011513000.2:c.2603C>T, XM_011513000.1:c.2603C>T, XM_024453644.2:c.2639C>T, XM_024453644.1:c.2639C>T, XM_024453645.2:c.2630C>T, XM_024453645.1:c.2630C>T, XM_024453656.2:c.2561C>T, XM_024453656.1:c.2561C>T, XM_024453657.2:c.2549C>T, XM_024453657.1:c.2549C>T, XM_024453658.2:c.2540C>T, XM_024453658.1:c.2540C>T, XM_024453661.2:c.2471C>T, XM_024453661.1:c.2471C>T, XM_024453646.2:c.2603C>T, XM_024453646.1:c.2603C>T, XM_024453647.2:c.2603C>T, XM_024453647.1:c.2603C>T, XM_024453651.2:c.2603C>T, XM_024453651.1:c.2603C>T, XM_024453649.2:c.2603C>T, XM_024453649.1:c.2603C>T, XM_024453648.2:c.2603C>T, XM_024453648.1:c.2603C>T, XM_024453662.2:c.1630C>T, XM_024453662.1:c.1630C>T, XM_024453663.2:c.1621C>T, XM_024453663.1:c.1621C>T, XM_024453653.2:c.2603C>T, XM_024453653.1:c.2603C>T, XM_024453664.2:c.1552C>T, XM_024453664.1:c.1552C>T, XM_024453665.2:c.1540C>T, XM_024453665.1:c.1540C>T, XM_024453667.2:c.1462C>T, XM_024453667.1:c.1462C>T, NM_001276286.2:c.1594C>T, NM_001276286.1:c.1594C>T, XM_047448598.1:c.2552C>T, XM_047448600.1:c.2462C>T, XM_047448597.1:c.2603C>T, XM_047448599.1:c.2513C>T, NP_064620.2:p.Thr838Ile, XP_005247699.1:p.Thr868Ile, XP_005247701.1:p.Thr868Ile, XP_005247700.1:p.Thr868Ile, XP_011511303.1:p.Thr868Ile, NP_001136040.1:p.Thr868Ile, XP_011511302.1:p.Thr868Ile, XP_024309412.1:p.Thr880Ile, XP_024309413.1:p.Thr877Ile, XP_024309424.1:p.Thr854Ile, XP_024309425.1:p.Thr850Ile, XP_024309426.1:p.Thr847Ile, XP_024309429.1:p.Thr824Ile, XP_024309414.1:p.Thr868Ile, XP_024309415.1:p.Thr868Ile, XP_024309419.1:p.Thr868Ile, XP_024309417.1:p.Thr868Ile, XP_024309416.1:p.Thr868Ile, XP_024309430.1:p.Gln544Ter, XP_024309431.1:p.Gln541Ter, XP_024309421.1:p.Thr868Ile, XP_024309432.1:p.Gln518Ter, XP_024309433.1:p.Gln514Ter, XP_024309435.1:p.Gln488Ter, NP_001263215.1:p.Gln532Ter, XP_047304554.1:p.Thr851Ile, XP_047304556.1:p.Thr821Ile, XP_047304553.1:p.Thr868Ile, XP_047304555.1:p.Thr838Ile

                              15.

                              rs1472031180 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:107733003 (GRCh38)
                                3:107451850 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:107733002:C:T
                                Gene:
                                BBX (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.107733003C>T, NC_000003.11:g.107451850C>T, NM_020235.7:c.649C>T, NM_020235.6:c.649C>T, XM_005247642.5:c.649C>T, XM_005247642.4:c.649C>T, XM_005247642.3:c.649C>T, XM_005247642.2:c.649C>T, XM_005247642.1:c.649C>T, XM_005247644.5:c.649C>T, XM_005247644.4:c.649C>T, XM_005247644.3:c.649C>T, XM_005247644.2:c.649C>T, XM_005247644.1:c.649C>T, XM_005247643.5:c.649C>T, XM_005247643.4:c.649C>T, XM_005247643.3:c.649C>T, XM_005247643.2:c.649C>T, XM_005247643.1:c.649C>T, XM_011513001.3:c.649C>T, XM_011513001.2:c.649C>T, XM_011513001.1:c.649C>T, NM_001142568.3:c.649C>T, NM_001142568.2:c.649C>T, XM_011513000.3:c.649C>T, XM_011513000.2:c.649C>T, XM_011513000.1:c.649C>T, XM_024453644.2:c.685C>T, XM_024453644.1:c.685C>T, XM_024453645.2:c.685C>T, XM_024453645.1:c.685C>T, XM_024453656.2:c.685C>T, XM_024453656.1:c.685C>T, XM_024453657.2:c.685C>T, XM_024453657.1:c.685C>T, XM_024453658.2:c.685C>T, XM_024453658.1:c.685C>T, XM_024453661.2:c.685C>T, XM_024453661.1:c.685C>T, XM_024453646.2:c.649C>T, XM_024453646.1:c.649C>T, XM_024453647.2:c.649C>T, XM_024453647.1:c.649C>T, XM_024453651.2:c.649C>T, XM_024453651.1:c.649C>T, XM_024453649.2:c.649C>T, XM_024453649.1:c.649C>T, XM_024453648.2:c.649C>T, XM_024453648.1:c.649C>T, XM_024453662.2:c.685C>T, XM_024453662.1:c.685C>T, XM_024453663.2:c.685C>T, XM_024453663.1:c.685C>T, XM_024453653.2:c.649C>T, XM_024453653.1:c.649C>T, XM_024453664.2:c.685C>T, XM_024453664.1:c.685C>T, XM_024453665.2:c.685C>T, XM_024453665.1:c.685C>T, XM_024453667.2:c.685C>T, XM_024453667.1:c.685C>T, NM_001276286.2:c.649C>T, NM_001276286.1:c.649C>T, XM_047448598.1:c.685C>T, XM_047448600.1:c.685C>T, XM_047448597.1:c.649C>T, XM_047448599.1:c.649C>T, NP_064620.2:p.His217Tyr, XP_005247699.1:p.His217Tyr, XP_005247701.1:p.His217Tyr, XP_005247700.1:p.His217Tyr, XP_011511303.1:p.His217Tyr, NP_001136040.1:p.His217Tyr, XP_011511302.1:p.His217Tyr, XP_024309412.1:p.His229Tyr, XP_024309413.1:p.His229Tyr, XP_024309424.1:p.His229Tyr, XP_024309425.1:p.His229Tyr, XP_024309426.1:p.His229Tyr, XP_024309429.1:p.His229Tyr, XP_024309414.1:p.His217Tyr, XP_024309415.1:p.His217Tyr, XP_024309419.1:p.His217Tyr, XP_024309417.1:p.His217Tyr, XP_024309416.1:p.His217Tyr, XP_024309430.1:p.His229Tyr, XP_024309431.1:p.His229Tyr, XP_024309421.1:p.His217Tyr, XP_024309432.1:p.His229Tyr, XP_024309433.1:p.His229Tyr, XP_024309435.1:p.His229Tyr, NP_001263215.1:p.His217Tyr, XP_047304554.1:p.His229Tyr, XP_047304556.1:p.His229Tyr, XP_047304553.1:p.His217Tyr, XP_047304555.1:p.His217Tyr

                                16.

                                rs1471014779 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  3:107728825 (GRCh38)
                                  3:107447672 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:107728824:C:A,NC_000003.12:107728824:C:T
                                  Gene:
                                  BBX (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000047/1 (ALFA)
                                  A=0.000012/3 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.107728825C>A, NC_000003.12:g.107728825C>T, NC_000003.11:g.107447672C>A, NC_000003.11:g.107447672C>T, NM_020235.7:c.466C>A, NM_020235.7:c.466C>T, NM_020235.6:c.466C>A, NM_020235.6:c.466C>T, XM_005247642.5:c.466C>A, XM_005247642.5:c.466C>T, XM_005247642.4:c.466C>A, XM_005247642.4:c.466C>T, XM_005247642.3:c.466C>A, XM_005247642.3:c.466C>T, XM_005247642.2:c.466C>A, XM_005247642.2:c.466C>T, XM_005247642.1:c.466C>A, XM_005247642.1:c.466C>T, XM_005247644.5:c.466C>A, XM_005247644.5:c.466C>T, XM_005247644.4:c.466C>A, XM_005247644.4:c.466C>T, XM_005247644.3:c.466C>A, XM_005247644.3:c.466C>T, XM_005247644.2:c.466C>A, XM_005247644.2:c.466C>T, XM_005247644.1:c.466C>A, XM_005247644.1:c.466C>T, XM_005247643.5:c.466C>A, XM_005247643.5:c.466C>T, XM_005247643.4:c.466C>A, XM_005247643.4:c.466C>T, XM_005247643.3:c.466C>A, XM_005247643.3:c.466C>T, XM_005247643.2:c.466C>A, XM_005247643.2:c.466C>T, XM_005247643.1:c.466C>A, XM_005247643.1:c.466C>T, XM_011513001.3:c.466C>A, XM_011513001.3:c.466C>T, XM_011513001.2:c.466C>A, XM_011513001.2:c.466C>T, XM_011513001.1:c.466C>A, XM_011513001.1:c.466C>T, NM_001142568.3:c.466C>A, NM_001142568.3:c.466C>T, NM_001142568.2:c.466C>A, NM_001142568.2:c.466C>T, XM_011513000.3:c.466C>A, XM_011513000.3:c.466C>T, XM_011513000.2:c.466C>A, XM_011513000.2:c.466C>T, XM_011513000.1:c.466C>A, XM_011513000.1:c.466C>T, XM_024453644.2:c.502C>A, XM_024453644.2:c.502C>T, XM_024453644.1:c.502C>A, XM_024453644.1:c.502C>T, XM_024453645.2:c.502C>A, XM_024453645.2:c.502C>T, XM_024453645.1:c.502C>A, XM_024453645.1:c.502C>T, XM_024453656.2:c.502C>A, XM_024453656.2:c.502C>T, XM_024453656.1:c.502C>A, XM_024453656.1:c.502C>T, XM_024453657.2:c.502C>A, XM_024453657.2:c.502C>T, XM_024453657.1:c.502C>A, XM_024453657.1:c.502C>T, XM_024453658.2:c.502C>A, XM_024453658.2:c.502C>T, XM_024453658.1:c.502C>A, XM_024453658.1:c.502C>T, XM_024453661.2:c.502C>A, XM_024453661.2:c.502C>T, XM_024453661.1:c.502C>A, XM_024453661.1:c.502C>T, XM_024453646.2:c.466C>A, XM_024453646.2:c.466C>T, XM_024453646.1:c.466C>A, XM_024453646.1:c.466C>T, XM_024453647.2:c.466C>A, XM_024453647.2:c.466C>T, XM_024453647.1:c.466C>A, XM_024453647.1:c.466C>T, XM_024453651.2:c.466C>A, XM_024453651.2:c.466C>T, XM_024453651.1:c.466C>A, XM_024453651.1:c.466C>T, XM_024453649.2:c.466C>A, XM_024453649.2:c.466C>T, XM_024453649.1:c.466C>A, XM_024453649.1:c.466C>T, XM_024453648.2:c.466C>A, XM_024453648.2:c.466C>T, XM_024453648.1:c.466C>A, XM_024453648.1:c.466C>T, XM_024453662.2:c.502C>A, XM_024453662.2:c.502C>T, XM_024453662.1:c.502C>A, XM_024453662.1:c.502C>T, XM_024453663.2:c.502C>A, XM_024453663.2:c.502C>T, XM_024453663.1:c.502C>A, XM_024453663.1:c.502C>T, XM_024453653.2:c.466C>A, XM_024453653.2:c.466C>T, XM_024453653.1:c.466C>A, XM_024453653.1:c.466C>T, XM_024453664.2:c.502C>A, XM_024453664.2:c.502C>T, XM_024453664.1:c.502C>A, XM_024453664.1:c.502C>T, XM_024453665.2:c.502C>A, XM_024453665.2:c.502C>T, XM_024453665.1:c.502C>A, XM_024453665.1:c.502C>T, XM_024453667.2:c.502C>A, XM_024453667.2:c.502C>T, XM_024453667.1:c.502C>A, XM_024453667.1:c.502C>T, NM_001276286.2:c.466C>A, NM_001276286.2:c.466C>T, NM_001276286.1:c.466C>A, NM_001276286.1:c.466C>T, XM_047448598.1:c.502C>A, XM_047448598.1:c.502C>T, XM_047448600.1:c.502C>A, XM_047448600.1:c.502C>T, XM_047448597.1:c.466C>A, XM_047448597.1:c.466C>T, XM_047448599.1:c.466C>A, XM_047448599.1:c.466C>T, NP_064620.2:p.Pro156Thr, NP_064620.2:p.Pro156Ser, XP_005247699.1:p.Pro156Thr, XP_005247699.1:p.Pro156Ser, XP_005247701.1:p.Pro156Thr, XP_005247701.1:p.Pro156Ser, XP_005247700.1:p.Pro156Thr, XP_005247700.1:p.Pro156Ser, XP_011511303.1:p.Pro156Thr, XP_011511303.1:p.Pro156Ser, NP_001136040.1:p.Pro156Thr, NP_001136040.1:p.Pro156Ser, XP_011511302.1:p.Pro156Thr, XP_011511302.1:p.Pro156Ser, XP_024309412.1:p.Pro168Thr, XP_024309412.1:p.Pro168Ser, XP_024309413.1:p.Pro168Thr, XP_024309413.1:p.Pro168Ser, XP_024309424.1:p.Pro168Thr, XP_024309424.1:p.Pro168Ser, XP_024309425.1:p.Pro168Thr, XP_024309425.1:p.Pro168Ser, XP_024309426.1:p.Pro168Thr, XP_024309426.1:p.Pro168Ser, XP_024309429.1:p.Pro168Thr, XP_024309429.1:p.Pro168Ser, XP_024309414.1:p.Pro156Thr, XP_024309414.1:p.Pro156Ser, XP_024309415.1:p.Pro156Thr, XP_024309415.1:p.Pro156Ser, XP_024309419.1:p.Pro156Thr, XP_024309419.1:p.Pro156Ser, XP_024309417.1:p.Pro156Thr, XP_024309417.1:p.Pro156Ser, XP_024309416.1:p.Pro156Thr, XP_024309416.1:p.Pro156Ser, XP_024309430.1:p.Pro168Thr, XP_024309430.1:p.Pro168Ser, XP_024309431.1:p.Pro168Thr, XP_024309431.1:p.Pro168Ser, XP_024309421.1:p.Pro156Thr, XP_024309421.1:p.Pro156Ser, XP_024309432.1:p.Pro168Thr, XP_024309432.1:p.Pro168Ser, XP_024309433.1:p.Pro168Thr, XP_024309433.1:p.Pro168Ser, XP_024309435.1:p.Pro168Thr, XP_024309435.1:p.Pro168Ser, NP_001263215.1:p.Pro156Thr, NP_001263215.1:p.Pro156Ser, XP_047304554.1:p.Pro168Thr, XP_047304554.1:p.Pro168Ser, XP_047304556.1:p.Pro168Thr, XP_047304556.1:p.Pro168Ser, XP_047304553.1:p.Pro156Thr, XP_047304553.1:p.Pro156Ser, XP_047304555.1:p.Pro156Thr, XP_047304555.1:p.Pro156Ser

                                  17.

                                  rs1470213025 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:107791269 (GRCh38)
                                    3:107510116 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:107791268:C:T
                                    Gene:
                                    BBX (Varview)
                                    Functional Consequence:
                                    missense_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.107791269C>T, NC_000003.11:g.107510116C>T, NM_020235.7:c.2233C>T, NM_020235.6:c.2233C>T, XM_005247642.5:c.2323C>T, XM_005247642.4:c.2323C>T, XM_005247642.3:c.2323C>T, XM_005247642.2:c.2323C>T, XM_005247642.1:c.2323C>T, XM_005247644.5:c.2323C>T, XM_005247644.4:c.2323C>T, XM_005247644.3:c.2323C>T, XM_005247644.2:c.2323C>T, XM_005247644.1:c.2323C>T, XM_005247643.5:c.2323C>T, XM_005247643.4:c.2323C>T, XM_005247643.3:c.2323C>T, XM_005247643.2:c.2323C>T, XM_005247643.1:c.2323C>T, XM_011513001.3:c.2323C>T, XM_011513001.2:c.2323C>T, XM_011513001.1:c.2323C>T, NM_001142568.3:c.2323C>T, NM_001142568.2:c.2323C>T, XM_011513000.3:c.2323C>T, XM_011513000.2:c.2323C>T, XM_011513000.1:c.2323C>T, XM_024453644.2:c.2359C>T, XM_024453644.1:c.2359C>T, XM_024453645.2:c.2359C>T, XM_024453645.1:c.2359C>T, XM_024453656.2:c.2359C>T, XM_024453656.1:c.2359C>T, XM_024453657.2:c.2269C>T, XM_024453657.1:c.2269C>T, XM_024453658.2:c.2269C>T, XM_024453658.1:c.2269C>T, XM_024453661.2:c.2269C>T, XM_024453661.1:c.2269C>T, XM_024453646.2:c.2323C>T, XM_024453646.1:c.2323C>T, XM_024453647.2:c.2323C>T, XM_024453647.1:c.2323C>T, XM_024453651.2:c.2323C>T, XM_024453651.1:c.2323C>T, XM_024453649.2:c.2323C>T, XM_024453649.1:c.2323C>T, XM_024453648.2:c.2323C>T, XM_024453648.1:c.2323C>T, XM_024453662.2:c.1350C>T, XM_024453662.1:c.1350C>T, XM_024453663.2:c.1350C>T, XM_024453663.1:c.1350C>T, XM_024453653.2:c.2323C>T, XM_024453653.1:c.2323C>T, XM_024453664.2:c.1350C>T, XM_024453664.1:c.1350C>T, XM_024453665.2:c.1260C>T, XM_024453665.1:c.1260C>T, XM_024453667.2:c.1260C>T, XM_024453667.1:c.1260C>T, NM_001276286.2:c.1314C>T, NM_001276286.1:c.1314C>T, XM_047448598.1:c.2359C>T, XM_047448600.1:c.2269C>T, XM_047448597.1:c.2323C>T, XM_047448599.1:c.2233C>T, NP_064620.2:p.Leu745Phe, XP_005247699.1:p.Leu775Phe, XP_005247701.1:p.Leu775Phe, XP_005247700.1:p.Leu775Phe, XP_011511303.1:p.Leu775Phe, NP_001136040.1:p.Leu775Phe, XP_011511302.1:p.Leu775Phe, XP_024309412.1:p.Leu787Phe, XP_024309413.1:p.Leu787Phe, XP_024309424.1:p.Leu787Phe, XP_024309425.1:p.Leu757Phe, XP_024309426.1:p.Leu757Phe, XP_024309429.1:p.Leu757Phe, XP_024309414.1:p.Leu775Phe, XP_024309415.1:p.Leu775Phe, XP_024309419.1:p.Leu775Phe, XP_024309417.1:p.Leu775Phe, XP_024309416.1:p.Leu775Phe, XP_024309421.1:p.Leu775Phe, XP_047304554.1:p.Leu787Phe, XP_047304556.1:p.Leu757Phe, XP_047304553.1:p.Leu775Phe, XP_047304555.1:p.Leu745Phe

                                    18.

                                    rs1470062878 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:107773230 (GRCh38)
                                      3:107492077 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:107773229:T:C
                                      Gene:
                                      BBX (Varview)
                                      Functional Consequence:
                                      intron_variant,synonymous_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)
                                      C=0.000177/3 (TOMMO)
                                      HGVS:
                                      NC_000003.12:g.107773230T>C, NC_000003.11:g.107492077T>C, NM_020235.7:c.1509T>C, NM_020235.6:c.1509T>C, XM_005247642.5:c.1509T>C, XM_005247642.4:c.1509T>C, XM_005247642.3:c.1509T>C, XM_005247642.2:c.1509T>C, XM_005247642.1:c.1509T>C, XM_005247644.5:c.1509T>C, XM_005247644.4:c.1509T>C, XM_005247644.3:c.1509T>C, XM_005247644.2:c.1509T>C, XM_005247644.1:c.1509T>C, XM_005247643.5:c.1509T>C, XM_005247643.4:c.1509T>C, XM_005247643.3:c.1509T>C, XM_005247643.2:c.1509T>C, XM_005247643.1:c.1509T>C, XM_011513001.3:c.1509T>C, XM_011513001.2:c.1509T>C, XM_011513001.1:c.1509T>C, NM_001142568.3:c.1509T>C, NM_001142568.2:c.1509T>C, XM_011513000.3:c.1509T>C, XM_011513000.2:c.1509T>C, XM_011513000.1:c.1509T>C, XM_024453644.2:c.1545T>C, XM_024453644.1:c.1545T>C, XM_024453645.2:c.1545T>C, XM_024453645.1:c.1545T>C, XM_024453656.2:c.1545T>C, XM_024453656.1:c.1545T>C, XM_024453657.2:c.1545T>C, XM_024453657.1:c.1545T>C, XM_024453658.2:c.1545T>C, XM_024453658.1:c.1545T>C, XM_024453661.2:c.1545T>C, XM_024453661.1:c.1545T>C, XM_024453646.2:c.1509T>C, XM_024453646.1:c.1509T>C, XM_024453647.2:c.1509T>C, XM_024453647.1:c.1509T>C, XM_024453651.2:c.1509T>C, XM_024453651.1:c.1509T>C, XM_024453649.2:c.1509T>C, XM_024453649.1:c.1509T>C, XM_024453648.2:c.1509T>C, XM_024453648.1:c.1509T>C, XM_024453653.2:c.1509T>C, XM_024453653.1:c.1509T>C, XM_047448598.1:c.1545T>C, XM_047448600.1:c.1545T>C, XM_047448597.1:c.1509T>C, XM_047448599.1:c.1509T>C

                                      19.

                                      rs1467957036 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        3:107778419 (GRCh38)
                                        3:107497266 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:107778418:T:C
                                        Gene:
                                        BBX (Varview)
                                        Functional Consequence:
                                        missense_variant,synonymous_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000003.12:g.107778419T>C, NC_000003.11:g.107497266T>C, NM_020235.7:c.2103T>C, NM_020235.6:c.2103T>C, XM_005247642.5:c.2103T>C, XM_005247642.4:c.2103T>C, XM_005247642.3:c.2103T>C, XM_005247642.2:c.2103T>C, XM_005247642.1:c.2103T>C, XM_005247644.5:c.2103T>C, XM_005247644.4:c.2103T>C, XM_005247644.3:c.2103T>C, XM_005247644.2:c.2103T>C, XM_005247644.1:c.2103T>C, XM_005247643.5:c.2103T>C, XM_005247643.4:c.2103T>C, XM_005247643.3:c.2103T>C, XM_005247643.2:c.2103T>C, XM_005247643.1:c.2103T>C, XM_011513001.3:c.2103T>C, XM_011513001.2:c.2103T>C, XM_011513001.1:c.2103T>C, NM_001142568.3:c.2103T>C, NM_001142568.2:c.2103T>C, XM_011513000.3:c.2103T>C, XM_011513000.2:c.2103T>C, XM_011513000.1:c.2103T>C, XM_024453644.2:c.2139T>C, XM_024453644.1:c.2139T>C, XM_024453645.2:c.2139T>C, XM_024453645.1:c.2139T>C, XM_024453656.2:c.2139T>C, XM_024453656.1:c.2139T>C, XM_024453657.2:c.2139T>C, XM_024453657.1:c.2139T>C, XM_024453658.2:c.2139T>C, XM_024453658.1:c.2139T>C, XM_024453661.2:c.2139T>C, XM_024453661.1:c.2139T>C, XM_024453646.2:c.2103T>C, XM_024453646.1:c.2103T>C, XM_024453647.2:c.2103T>C, XM_024453647.1:c.2103T>C, XM_024453651.2:c.2103T>C, XM_024453651.1:c.2103T>C, XM_024453649.2:c.2103T>C, XM_024453649.1:c.2103T>C, XM_024453648.2:c.2103T>C, XM_024453648.1:c.2103T>C, XM_024453662.2:c.1130T>C, XM_024453662.1:c.1130T>C, XM_024453663.2:c.1130T>C, XM_024453663.1:c.1130T>C, XM_024453653.2:c.2103T>C, XM_024453653.1:c.2103T>C, XM_024453664.2:c.1130T>C, XM_024453664.1:c.1130T>C, XM_024453665.2:c.1130T>C, XM_024453665.1:c.1130T>C, XM_024453667.2:c.1130T>C, XM_024453667.1:c.1130T>C, NM_001276286.2:c.1094T>C, NM_001276286.1:c.1094T>C, XM_047448598.1:c.2139T>C, XM_047448600.1:c.2139T>C, XM_047448597.1:c.2103T>C, XM_047448599.1:c.2103T>C, XP_024309430.1:p.Leu377Pro, XP_024309431.1:p.Leu377Pro, XP_024309432.1:p.Leu377Pro, XP_024309433.1:p.Leu377Pro, XP_024309435.1:p.Leu377Pro, NP_001263215.1:p.Leu365Pro

                                        20.

                                        rs1467709944 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          3:107798709 (GRCh38)
                                          3:107517556 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:107798708:G:A,NC_000003.12:107798708:G:C
                                          Gene:
                                          BBX (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000003.12:g.107798709G>A, NC_000003.12:g.107798709G>C, NC_000003.11:g.107517556G>A, NC_000003.11:g.107517556G>C, NM_020235.7:c.2450G>A, NM_020235.7:c.2450G>C, NM_020235.6:c.2450G>A, NM_020235.6:c.2450G>C, XM_005247642.5:c.2540G>A, XM_005247642.5:c.2540G>C, XM_005247642.4:c.2540G>A, XM_005247642.4:c.2540G>C, XM_005247642.3:c.2540G>A, XM_005247642.3:c.2540G>C, XM_005247642.2:c.2540G>A, XM_005247642.2:c.2540G>C, XM_005247642.1:c.2540G>A, XM_005247642.1:c.2540G>C, XM_005247644.5:c.2540G>A, XM_005247644.5:c.2540G>C, XM_005247644.4:c.2540G>A, XM_005247644.4:c.2540G>C, XM_005247644.3:c.2540G>A, XM_005247644.3:c.2540G>C, XM_005247644.2:c.2540G>A, XM_005247644.2:c.2540G>C, XM_005247644.1:c.2540G>A, XM_005247644.1:c.2540G>C, XM_005247643.5:c.2540G>A, XM_005247643.5:c.2540G>C, XM_005247643.4:c.2540G>A, XM_005247643.4:c.2540G>C, XM_005247643.3:c.2540G>A, XM_005247643.3:c.2540G>C, XM_005247643.2:c.2540G>A, XM_005247643.2:c.2540G>C, XM_005247643.1:c.2540G>A, XM_005247643.1:c.2540G>C, XM_011513001.3:c.2540G>A, XM_011513001.3:c.2540G>C, XM_011513001.2:c.2540G>A, XM_011513001.2:c.2540G>C, XM_011513001.1:c.2540G>A, XM_011513001.1:c.2540G>C, NM_001142568.3:c.2540G>A, NM_001142568.3:c.2540G>C, NM_001142568.2:c.2540G>A, NM_001142568.2:c.2540G>C, XM_011513000.3:c.2540G>A, XM_011513000.3:c.2540G>C, XM_011513000.2:c.2540G>A, XM_011513000.2:c.2540G>C, XM_011513000.1:c.2540G>A, XM_011513000.1:c.2540G>C, XM_024453644.2:c.2576G>A, XM_024453644.2:c.2576G>C, XM_024453644.1:c.2576G>A, XM_024453644.1:c.2576G>C, XM_024453645.2:c.2576G>A, XM_024453645.2:c.2576G>C, XM_024453645.1:c.2576G>A, XM_024453645.1:c.2576G>C, XM_024453656.2:c.2498G>A, XM_024453656.2:c.2498G>C, XM_024453656.1:c.2498G>A, XM_024453656.1:c.2498G>C, XM_024453657.2:c.2486G>A, XM_024453657.2:c.2486G>C, XM_024453657.1:c.2486G>A, XM_024453657.1:c.2486G>C, XM_024453658.2:c.2486G>A, XM_024453658.2:c.2486G>C, XM_024453658.1:c.2486G>A, XM_024453658.1:c.2486G>C, XM_024453661.2:c.2408G>A, XM_024453661.2:c.2408G>C, XM_024453661.1:c.2408G>A, XM_024453661.1:c.2408G>C, XM_024453646.2:c.2540G>A, XM_024453646.2:c.2540G>C, XM_024453646.1:c.2540G>A, XM_024453646.1:c.2540G>C, XM_024453647.2:c.2540G>A, XM_024453647.2:c.2540G>C, XM_024453647.1:c.2540G>A, XM_024453647.1:c.2540G>C, XM_024453651.2:c.2540G>A, XM_024453651.2:c.2540G>C, XM_024453651.1:c.2540G>A, XM_024453651.1:c.2540G>C, XM_024453649.2:c.2540G>A, XM_024453649.2:c.2540G>C, XM_024453649.1:c.2540G>A, XM_024453649.1:c.2540G>C, XM_024453648.2:c.2540G>A, XM_024453648.2:c.2540G>C, XM_024453648.1:c.2540G>A, XM_024453648.1:c.2540G>C, XM_024453662.2:c.1567G>A, XM_024453662.2:c.1567G>C, XM_024453662.1:c.1567G>A, XM_024453662.1:c.1567G>C, XM_024453663.2:c.1567G>A, XM_024453663.2:c.1567G>C, XM_024453663.1:c.1567G>A, XM_024453663.1:c.1567G>C, XM_024453653.2:c.2540G>A, XM_024453653.2:c.2540G>C, XM_024453653.1:c.2540G>A, XM_024453653.1:c.2540G>C, XM_024453664.2:c.1489G>A, XM_024453664.2:c.1489G>C, XM_024453664.1:c.1489G>A, XM_024453664.1:c.1489G>C, XM_024453665.2:c.1477G>A, XM_024453665.2:c.1477G>C, XM_024453665.1:c.1477G>A, XM_024453665.1:c.1477G>C, XM_024453667.2:c.1399G>A, XM_024453667.2:c.1399G>C, XM_024453667.1:c.1399G>A, XM_024453667.1:c.1399G>C, NM_001276286.2:c.1531G>A, NM_001276286.2:c.1531G>C, NM_001276286.1:c.1531G>A, NM_001276286.1:c.1531G>C, XM_047448598.1:c.2498G>A, XM_047448598.1:c.2498G>C, XM_047448600.1:c.2408G>A, XM_047448600.1:c.2408G>C, XM_047448597.1:c.2540G>A, XM_047448597.1:c.2540G>C, XM_047448599.1:c.2450G>A, XM_047448599.1:c.2450G>C, NP_064620.2:p.Gly817Glu, NP_064620.2:p.Gly817Ala, XP_005247699.1:p.Gly847Glu, XP_005247699.1:p.Gly847Ala, XP_005247701.1:p.Gly847Glu, XP_005247701.1:p.Gly847Ala, XP_005247700.1:p.Gly847Glu, XP_005247700.1:p.Gly847Ala, XP_011511303.1:p.Gly847Glu, XP_011511303.1:p.Gly847Ala, NP_001136040.1:p.Gly847Glu, NP_001136040.1:p.Gly847Ala, XP_011511302.1:p.Gly847Glu, XP_011511302.1:p.Gly847Ala, XP_024309412.1:p.Gly859Glu, XP_024309412.1:p.Gly859Ala, XP_024309413.1:p.Gly859Glu, XP_024309413.1:p.Gly859Ala, XP_024309424.1:p.Gly833Glu, XP_024309424.1:p.Gly833Ala, XP_024309425.1:p.Gly829Glu, XP_024309425.1:p.Gly829Ala, XP_024309426.1:p.Gly829Glu, XP_024309426.1:p.Gly829Ala, XP_024309429.1:p.Gly803Glu, XP_024309429.1:p.Gly803Ala, XP_024309414.1:p.Gly847Glu, XP_024309414.1:p.Gly847Ala, XP_024309415.1:p.Gly847Glu, XP_024309415.1:p.Gly847Ala, XP_024309419.1:p.Gly847Glu, XP_024309419.1:p.Gly847Ala, XP_024309417.1:p.Gly847Glu, XP_024309417.1:p.Gly847Ala, XP_024309416.1:p.Gly847Glu, XP_024309416.1:p.Gly847Ala, XP_024309430.1:p.Glu523Lys, XP_024309430.1:p.Glu523Gln, XP_024309431.1:p.Glu523Lys, XP_024309431.1:p.Glu523Gln, XP_024309421.1:p.Gly847Glu, XP_024309421.1:p.Gly847Ala, XP_024309432.1:p.Glu497Lys, XP_024309432.1:p.Glu497Gln, XP_024309433.1:p.Glu493Lys, XP_024309433.1:p.Glu493Gln, XP_024309435.1:p.Glu467Lys, XP_024309435.1:p.Glu467Gln, NP_001263215.1:p.Glu511Lys, NP_001263215.1:p.Glu511Gln, XP_047304554.1:p.Gly833Glu, XP_047304554.1:p.Gly833Ala, XP_047304556.1:p.Gly803Glu, XP_047304556.1:p.Gly803Ala, XP_047304553.1:p.Gly847Glu, XP_047304553.1:p.Gly847Ala, XP_047304555.1:p.Gly817Glu, XP_047304555.1:p.Gly817Ala

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