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1.

rs1489467599 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    7:50400964 (GRCh38)
    7:50468662 (GRCh37)
    Canonical SPDI:
    NC_000007.14:50400963:A:T
    Gene:
    IKZF1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0./0 (GnomAD)
    T=0.000011/3 (TOPMED)
    HGVS:
    NC_000007.14:g.50400964A>T, NC_000007.13:g.50468662A>T, NG_034231.1:g.101882A>T, NM_006060.6:c.*337A>T, NM_006060.5:c.*337A>T, NM_006060.4:c.*337A>T, NM_001220765.3:c.*337A>T, NM_001220765.2:c.*337A>T, NM_001220765.1:c.*337A>T, NM_001291837.2:c.*337A>T, NM_001291837.1:c.*337A>T, NM_001291838.2:c.*337A>T, NM_001291838.1:c.*337A>T, NM_001220768.2:c.*337A>T, NM_001220768.1:c.*337A>T, NM_001220767.2:c.*337A>T, NM_001220767.1:c.*337A>T, NM_001291839.2:c.*337A>T, NM_001291839.1:c.*337A>T, NM_001220770.2:c.*337A>T, NM_001220770.1:c.*337A>T, NM_001220771.2:c.*337A>T, NM_001220771.1:c.*337A>T, NM_001410879.1:c.*337A>T, NM_001291841.1:c.*337A>T, NM_001291842.1:c.*337A>T, NM_001291843.1:c.*337A>T, NM_001291844.1:c.*337A>T, NM_001291840.1:c.*337A>T, XM_011515064.4:c.*337A>T, XM_011515064.3:c.*337A>T, XM_011515064.2:c.*337A>T, XM_011515064.1:c.*337A>T, XM_011515059.4:c.*337A>T, XM_011515059.3:c.*337A>T, XM_011515059.2:c.*337A>T, XM_011515059.1:c.*337A>T, XM_011515061.4:c.*337A>T, XM_011515061.3:c.*337A>T, XM_011515061.2:c.*337A>T, XM_011515061.1:c.*337A>T, XM_011515067.4:c.*337A>T, XM_011515067.3:c.*337A>T, XM_011515067.2:c.*337A>T, XM_011515067.1:c.*337A>T, XM_011515066.3:c.*337A>T, XM_011515063.3:c.*337A>T, XM_011515063.2:c.*337A>T, XM_011515063.1:c.*337A>T, XM_011515062.3:c.*337A>T, XM_011515062.2:c.*337A>T, XM_011515062.1:c.*337A>T, XM_011515060.3:c.*337A>T, XM_011515060.2:c.*337A>T, XM_011515060.1:c.*337A>T, XM_011515058.3:c.*337A>T, XM_011515058.2:c.*337A>T, XM_011515058.1:c.*337A>T, XM_011515065.3:c.*337A>T, XM_011515065.2:c.*337A>T, XM_011515065.1:c.*337A>T, XM_011515073.3:c.*337A>T, XM_011515073.2:c.*337A>T, XM_011515073.1:c.*337A>T, XM_011515070.3:c.*337A>T, XM_011515070.2:c.*337A>T, XM_011515070.1:c.*337A>T, XM_011515071.3:c.*337A>T, XM_011515071.2:c.*337A>T, XM_011515071.1:c.*337A>T, XM_011515072.3:c.*337A>T, XM_011515072.2:c.*337A>T, XM_011515072.1:c.*337A>T, XM_011515074.3:c.*337A>T, XM_011515074.2:c.*337A>T, XM_011515074.1:c.*337A>T, XM_011515077.3:c.*337A>T, XM_011515077.2:c.*337A>T, XM_011515077.1:c.*337A>T, XM_011515078.3:c.*337A>T, XM_011515078.2:c.*337A>T, XM_011515078.1:c.*337A>T, XM_017011668.2:c.*337A>T, XM_017011668.1:c.*337A>T, XM_047419741.1:c.*337A>T, XM_047419742.1:c.*337A>T, XM_047419726.1:c.*337A>T, XM_047419729.1:c.*337A>T, XM_047419734.1:c.*337A>T, XM_047419736.1:c.*337A>T, XM_047419745.1:c.*337A>T, XM_047419747.1:c.*337A>T, XM_047419735.1:c.*337A>T, XM_047419743.1:c.*337A>T, XM_047419724.1:c.*337A>T, XM_047419744.1:c.*337A>T, XM_047419723.1:c.*337A>T, XM_047419725.1:c.*337A>T, XM_047419728.1:c.*337A>T, XM_047419727.1:c.*337A>T, XM_047419730.1:c.*337A>T, XM_047419732.1:c.*337A>T, XM_047419731.1:c.*337A>T, XM_047419733.1:c.*337A>T, XM_047419738.1:c.*337A>T, XM_047419748.1:c.*337A>T, NM_001220766.1:c.*337A>T, XM_047419739.1:c.*337A>T, XM_047419740.1:c.*337A>T, XM_047419749.1:c.*337A>T, XM_047419746.1:c.*337A>T, NM_001220769.1:c.*337A>T, XM_047419750.1:c.*337A>T, NM_001220773.1:c.*337A>T, NM_001220774.1:c.*337A>T, NM_001220775.1:c.*337A>T, NM_001220776.1:c.*337A>T, NM_001220772.1:c.*337A>T

    2.

    rs1489039724 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      7:50403570 (GRCh38)
      7:50471268 (GRCh37)
      Canonical SPDI:
      NC_000007.14:50403569:C:T
      Gene:
      IKZF1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,genic_downstream_transcript_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_000007.14:g.50403570C>T, NC_000007.13:g.50471268C>T, NG_034231.1:g.104488C>T, NM_006060.6:c.*2943C>T, NM_006060.5:c.*2943C>T, NM_006060.4:c.*2943C>T, NM_001220765.3:c.*2943C>T, NM_001220765.2:c.*2943C>T, NM_001220765.1:c.*2943C>T, NM_001291837.2:c.*2943C>T, NM_001291837.1:c.*2943C>T, NM_001291838.2:c.*2943C>T, NM_001291838.1:c.*2943C>T, NM_001220768.2:c.*2943C>T, NM_001220768.1:c.*2943C>T, NM_001220767.2:c.*2943C>T, NM_001220767.1:c.*2943C>T, NM_001291839.2:c.*2943C>T, NM_001291839.1:c.*2943C>T, NM_001220770.2:c.*2943C>T, NM_001220770.1:c.*2943C>T, NM_001220771.2:c.*2943C>T, NM_001220771.1:c.*2943C>T, NM_001410879.1:c.*2943C>T, NM_001291841.1:c.*2943C>T, NM_001291842.1:c.*2943C>T, NM_001291843.1:c.*2943C>T, NM_001291844.1:c.*2943C>T, NM_001291840.1:c.*2943C>T, XM_011515064.4:c.*2943C>T, XM_011515064.3:c.*2943C>T, XM_011515064.2:c.*2943C>T, XM_011515064.1:c.*2943C>T, XM_011515059.4:c.*2943C>T, XM_011515059.3:c.*2943C>T, XM_011515059.2:c.*2943C>T, XM_011515059.1:c.*2943C>T, XM_011515061.4:c.*2943C>T, XM_011515061.3:c.*2943C>T, XM_011515061.2:c.*2943C>T, XM_011515061.1:c.*2943C>T, XM_011515067.4:c.*2943C>T, XM_011515067.3:c.*2943C>T, XM_011515067.2:c.*2943C>T, XM_011515067.1:c.*2943C>T, XM_011515066.3:c.*2943C>T, XM_011515063.3:c.*2943C>T, XM_011515063.2:c.*2943C>T, XM_011515063.1:c.*2943C>T, XM_011515062.3:c.*2943C>T, XM_011515062.2:c.*2943C>T, XM_011515062.1:c.*2943C>T, XM_011515060.3:c.*2943C>T, XM_011515060.2:c.*2943C>T, XM_011515060.1:c.*2943C>T, XM_011515058.3:c.*2943C>T, XM_011515058.2:c.*2943C>T, XM_011515058.1:c.*2943C>T, XM_011515065.3:c.*2943C>T, XM_011515065.2:c.*2943C>T, XM_011515065.1:c.*2943C>T, XM_011515073.3:c.*2943C>T, XM_011515073.2:c.*2943C>T, XM_011515073.1:c.*2943C>T, XM_011515070.3:c.*2943C>T, XM_011515070.2:c.*2943C>T, XM_011515070.1:c.*2943C>T, XM_011515071.3:c.*2943C>T, XM_011515071.2:c.*2943C>T, XM_011515071.1:c.*2943C>T, XM_011515072.3:c.*2943C>T, XM_011515072.2:c.*2943C>T, XM_011515072.1:c.*2943C>T, XM_011515074.3:c.*2943C>T, XM_011515074.2:c.*2943C>T, XM_011515074.1:c.*2943C>T, XM_011515077.3:c.*2943C>T, XM_011515077.2:c.*2943C>T, XM_011515077.1:c.*2943C>T, XM_011515078.3:c.*2943C>T, XM_011515078.2:c.*2943C>T, XM_011515078.1:c.*2943C>T, XM_017011668.2:c.*2943C>T, XM_017011668.1:c.*2943C>T, XM_047419741.1:c.*2943C>T, XM_047419742.1:c.*2943C>T, XM_047419726.1:c.*2943C>T, XM_047419729.1:c.*2943C>T, XM_047419734.1:c.*2943C>T, XM_047419736.1:c.*2943C>T, XM_047419745.1:c.*2943C>T, XM_047419747.1:c.*2943C>T, XM_047419735.1:c.*2943C>T, XM_047419743.1:c.*2943C>T, XM_047419724.1:c.*2943C>T, XM_047419744.1:c.*2943C>T, XM_047419723.1:c.*2943C>T, XM_047419725.1:c.*2943C>T, XM_047419728.1:c.*2943C>T, XM_047419727.1:c.*2943C>T, XM_047419730.1:c.*2943C>T, XM_047419732.1:c.*2943C>T, XM_047419731.1:c.*2943C>T, XM_047419733.1:c.*2943C>T, XM_047419738.1:c.*2943C>T, XM_047419748.1:c.*2943C>T, NM_001220766.1:c.*2943C>T, XM_047419739.1:c.*2943C>T, XM_047419740.1:c.*2943C>T, XM_047419749.1:c.*2943C>T, XM_047419746.1:c.*2943C>T, NM_001220769.1:c.*2943C>T, XM_047419750.1:c.*2943C>T, NM_001220773.1:c.*2943C>T, NM_001220774.1:c.*2943C>T, NM_001220775.1:c.*2943C>T, NM_001220776.1:c.*2943C>T, NM_001220772.1:c.*2943C>T

      3.

      rs1488473795 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C,T [Show Flanks]
        Chromosome:
        7:50403005 (GRCh38)
        7:50470703 (GRCh37)
        Canonical SPDI:
        NC_000007.14:50403004:G:C,NC_000007.14:50403004:G:T
        Gene:
        IKZF1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000045/12 (TOPMED)
        T=0.00005/7 (GnomAD)
        HGVS:
        NC_000007.14:g.50403005G>C, NC_000007.14:g.50403005G>T, NC_000007.13:g.50470703G>C, NC_000007.13:g.50470703G>T, NG_034231.1:g.103923G>C, NG_034231.1:g.103923G>T, NM_006060.6:c.*2378G>C, NM_006060.6:c.*2378G>T, NM_006060.5:c.*2378G>C, NM_006060.5:c.*2378G>T, NM_006060.4:c.*2378G>C, NM_006060.4:c.*2378G>T, NM_001220765.3:c.*2378G>C, NM_001220765.3:c.*2378G>T, NM_001220765.2:c.*2378G>C, NM_001220765.2:c.*2378G>T, NM_001220765.1:c.*2378G>C, NM_001220765.1:c.*2378G>T, NM_001291837.2:c.*2378G>C, NM_001291837.2:c.*2378G>T, NM_001291837.1:c.*2378G>C, NM_001291837.1:c.*2378G>T, NM_001291838.2:c.*2378G>C, NM_001291838.2:c.*2378G>T, NM_001291838.1:c.*2378G>C, NM_001291838.1:c.*2378G>T, NM_001220768.2:c.*2378G>C, NM_001220768.2:c.*2378G>T, NM_001220768.1:c.*2378G>C, NM_001220768.1:c.*2378G>T, NM_001220767.2:c.*2378G>C, NM_001220767.2:c.*2378G>T, NM_001220767.1:c.*2378G>C, NM_001220767.1:c.*2378G>T, NM_001291839.2:c.*2378G>C, NM_001291839.2:c.*2378G>T, NM_001291839.1:c.*2378G>C, NM_001291839.1:c.*2378G>T, NM_001220770.2:c.*2378G>C, NM_001220770.2:c.*2378G>T, NM_001220770.1:c.*2378G>C, NM_001220770.1:c.*2378G>T, NM_001220771.2:c.*2378G>C, NM_001220771.2:c.*2378G>T, NM_001220771.1:c.*2378G>C, NM_001220771.1:c.*2378G>T, NM_001410879.1:c.*2378G>C, NM_001410879.1:c.*2378G>T, NM_001291841.1:c.*2378G>C, NM_001291841.1:c.*2378G>T, NM_001291842.1:c.*2378G>C, NM_001291842.1:c.*2378G>T, NM_001291843.1:c.*2378G>C, NM_001291843.1:c.*2378G>T, NM_001291844.1:c.*2378G>C, NM_001291844.1:c.*2378G>T, NM_001291840.1:c.*2378G>C, NM_001291840.1:c.*2378G>T, XM_011515064.4:c.*2378G>C, XM_011515064.4:c.*2378G>T, XM_011515064.3:c.*2378G>C, XM_011515064.3:c.*2378G>T, XM_011515064.2:c.*2378G>C, XM_011515064.2:c.*2378G>T, XM_011515064.1:c.*2378G>C, XM_011515064.1:c.*2378G>T, XM_011515059.4:c.*2378G>C, XM_011515059.4:c.*2378G>T, XM_011515059.3:c.*2378G>C, XM_011515059.3:c.*2378G>T, XM_011515059.2:c.*2378G>C, XM_011515059.2:c.*2378G>T, XM_011515059.1:c.*2378G>C, XM_011515059.1:c.*2378G>T, XM_011515061.4:c.*2378G>C, XM_011515061.4:c.*2378G>T, XM_011515061.3:c.*2378G>C, XM_011515061.3:c.*2378G>T, XM_011515061.2:c.*2378G>C, XM_011515061.2:c.*2378G>T, XM_011515061.1:c.*2378G>C, XM_011515061.1:c.*2378G>T, XM_011515067.4:c.*2378G>C, XM_011515067.4:c.*2378G>T, XM_011515067.3:c.*2378G>C, XM_011515067.3:c.*2378G>T, XM_011515067.2:c.*2378G>C, XM_011515067.2:c.*2378G>T, XM_011515067.1:c.*2378G>C, XM_011515067.1:c.*2378G>T, XM_011515066.3:c.*2378G>C, XM_011515066.3:c.*2378G>T, XM_011515063.3:c.*2378G>C, XM_011515063.3:c.*2378G>T, XM_011515063.2:c.*2378G>C, XM_011515063.2:c.*2378G>T, XM_011515063.1:c.*2378G>C, XM_011515063.1:c.*2378G>T, XM_011515062.3:c.*2378G>C, XM_011515062.3:c.*2378G>T, XM_011515062.2:c.*2378G>C, XM_011515062.2:c.*2378G>T, XM_011515062.1:c.*2378G>C, XM_011515062.1:c.*2378G>T, XM_011515060.3:c.*2378G>C, XM_011515060.3:c.*2378G>T, XM_011515060.2:c.*2378G>C, XM_011515060.2:c.*2378G>T, XM_011515060.1:c.*2378G>C, XM_011515060.1:c.*2378G>T, XM_011515058.3:c.*2378G>C, XM_011515058.3:c.*2378G>T, XM_011515058.2:c.*2378G>C, XM_011515058.2:c.*2378G>T, XM_011515058.1:c.*2378G>C, XM_011515058.1:c.*2378G>T, XM_011515065.3:c.*2378G>C, XM_011515065.3:c.*2378G>T, XM_011515065.2:c.*2378G>C, XM_011515065.2:c.*2378G>T, XM_011515065.1:c.*2378G>C, XM_011515065.1:c.*2378G>T, XM_011515073.3:c.*2378G>C, XM_011515073.3:c.*2378G>T, XM_011515073.2:c.*2378G>C, XM_011515073.2:c.*2378G>T, XM_011515073.1:c.*2378G>C, XM_011515073.1:c.*2378G>T, XM_011515070.3:c.*2378G>C, XM_011515070.3:c.*2378G>T, XM_011515070.2:c.*2378G>C, XM_011515070.2:c.*2378G>T, XM_011515070.1:c.*2378G>C, XM_011515070.1:c.*2378G>T, XM_011515071.3:c.*2378G>C, XM_011515071.3:c.*2378G>T, XM_011515071.2:c.*2378G>C, XM_011515071.2:c.*2378G>T, XM_011515071.1:c.*2378G>C, XM_011515071.1:c.*2378G>T, XM_011515072.3:c.*2378G>C, XM_011515072.3:c.*2378G>T, XM_011515072.2:c.*2378G>C, XM_011515072.2:c.*2378G>T, XM_011515072.1:c.*2378G>C, XM_011515072.1:c.*2378G>T, XM_011515074.3:c.*2378G>C, XM_011515074.3:c.*2378G>T, XM_011515074.2:c.*2378G>C, XM_011515074.2:c.*2378G>T, XM_011515074.1:c.*2378G>C, XM_011515074.1:c.*2378G>T, XM_011515077.3:c.*2378G>C, XM_011515077.3:c.*2378G>T, XM_011515077.2:c.*2378G>C, XM_011515077.2:c.*2378G>T, XM_011515077.1:c.*2378G>C, XM_011515077.1:c.*2378G>T, XM_011515078.3:c.*2378G>C, XM_011515078.3:c.*2378G>T, XM_011515078.2:c.*2378G>C, XM_011515078.2:c.*2378G>T, XM_011515078.1:c.*2378G>C, XM_011515078.1:c.*2378G>T, XM_017011668.2:c.*2378G>C, XM_017011668.2:c.*2378G>T, XM_017011668.1:c.*2378G>C, XM_017011668.1:c.*2378G>T, XM_047419741.1:c.*2378G>C, XM_047419741.1:c.*2378G>T, XM_047419742.1:c.*2378G>C, XM_047419742.1:c.*2378G>T, XM_047419726.1:c.*2378G>C, XM_047419726.1:c.*2378G>T, XM_047419729.1:c.*2378G>C, XM_047419729.1:c.*2378G>T, XM_047419734.1:c.*2378G>C, XM_047419734.1:c.*2378G>T, XM_047419736.1:c.*2378G>C, XM_047419736.1:c.*2378G>T, XM_047419745.1:c.*2378G>C, XM_047419745.1:c.*2378G>T, XM_047419747.1:c.*2378G>C, XM_047419747.1:c.*2378G>T, XM_047419735.1:c.*2378G>C, XM_047419735.1:c.*2378G>T, XM_047419743.1:c.*2378G>C, XM_047419743.1:c.*2378G>T, XM_047419724.1:c.*2378G>C, XM_047419724.1:c.*2378G>T, XM_047419744.1:c.*2378G>C, XM_047419744.1:c.*2378G>T, XM_047419723.1:c.*2378G>C, XM_047419723.1:c.*2378G>T, XM_047419725.1:c.*2378G>C, XM_047419725.1:c.*2378G>T, XM_047419728.1:c.*2378G>C, XM_047419728.1:c.*2378G>T, XM_047419727.1:c.*2378G>C, XM_047419727.1:c.*2378G>T, XM_047419730.1:c.*2378G>C, XM_047419730.1:c.*2378G>T, XM_047419732.1:c.*2378G>C, XM_047419732.1:c.*2378G>T, XM_047419731.1:c.*2378G>C, XM_047419731.1:c.*2378G>T, XM_047419733.1:c.*2378G>C, XM_047419733.1:c.*2378G>T, XM_047419738.1:c.*2378G>C, XM_047419738.1:c.*2378G>T, XM_047419748.1:c.*2378G>C, XM_047419748.1:c.*2378G>T, NM_001220766.1:c.*2378G>C, NM_001220766.1:c.*2378G>T, XM_047419739.1:c.*2378G>C, XM_047419739.1:c.*2378G>T, XM_047419740.1:c.*2378G>C, XM_047419740.1:c.*2378G>T, XM_047419749.1:c.*2378G>C, XM_047419749.1:c.*2378G>T, XM_047419746.1:c.*2378G>C, XM_047419746.1:c.*2378G>T, NM_001220769.1:c.*2378G>C, NM_001220769.1:c.*2378G>T, XM_047419750.1:c.*2378G>C, XM_047419750.1:c.*2378G>T, NM_001220773.1:c.*2378G>C, NM_001220773.1:c.*2378G>T, NM_001220774.1:c.*2378G>C, NM_001220774.1:c.*2378G>T, NM_001220775.1:c.*2378G>C, NM_001220775.1:c.*2378G>T, NM_001220776.1:c.*2378G>C, NM_001220776.1:c.*2378G>T, NM_001220772.1:c.*2378G>C, NM_001220772.1:c.*2378G>T

        4.

        rs1488341832 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:50400603 (GRCh38)
          7:50468301 (GRCh37)
          Canonical SPDI:
          NC_000007.14:50400602:G:A
          Gene:
          IKZF1 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by cluster
          HGVS:
          NC_000007.14:g.50400603G>A, NC_000007.13:g.50468301G>A, NG_034231.1:g.101521G>A, NM_006060.6:c.1536G>A, NM_006060.5:c.1536G>A, NM_006060.4:c.1536G>A, NM_001220765.3:c.1410G>A, NM_001220765.2:c.1410G>A, NM_001220765.1:c.1410G>A, NM_001291837.2:c.1410G>A, NM_001291837.1:c.1410G>A, NM_001291838.2:c.1275G>A, NM_001291838.1:c.1275G>A, NM_001220768.2:c.1275G>A, NM_001220768.1:c.1275G>A, NM_001220767.2:c.1245G>A, NM_001220767.1:c.1245G>A, NM_001291839.2:c.1149G>A, NM_001291839.1:c.1149G>A, NM_001220770.2:c.1119G>A, NM_001220770.1:c.1119G>A, NM_001220771.2:c.1107G>A, NM_001220771.1:c.1107G>A, NM_001410879.1:c.1596G>A, NM_001291841.1:c.1107G>A, NM_001291842.1:c.1077G>A, NM_001291843.1:c.981G>A, NM_001291844.1:c.951G>A, NM_001291840.1:c.846G>A, XM_011515064.4:c.1596G>A, XM_011515064.3:c.1596G>A, XM_011515064.2:c.1596G>A, XM_011515064.1:c.1596G>A, XM_011515059.4:c.1638G>A, XM_011515059.3:c.1638G>A, XM_011515059.2:c.1638G>A, XM_011515059.1:c.1638G>A, XM_011515061.4:c.1608G>A, XM_011515061.3:c.1608G>A, XM_011515061.2:c.1608G>A, XM_011515061.1:c.1608G>A, XM_011515067.4:c.1542G>A, XM_011515067.3:c.1542G>A, XM_011515067.2:c.1542G>A, XM_011515067.1:c.1542G>A, XM_011515066.3:c.1596G>A, XM_011515063.3:c.1596G>A, XM_011515063.2:c.1596G>A, XM_011515063.1:c.1596G>A, XM_011515062.3:c.1596G>A, XM_011515062.2:c.1596G>A, XM_011515062.1:c.1596G>A, XM_011515060.3:c.1626G>A, XM_011515060.2:c.1626G>A, XM_011515060.1:c.1626G>A, XM_011515058.3:c.1668G>A, XM_011515058.2:c.1668G>A, XM_011515058.1:c.1668G>A, XM_011515065.3:c.1596G>A, XM_011515065.2:c.1596G>A, XM_011515065.1:c.1596G>A, XM_011515073.3:c.1335G>A, XM_011515073.2:c.1335G>A, XM_011515073.1:c.1335G>A, XM_011515070.3:c.1482G>A, XM_011515070.2:c.1482G>A, XM_011515070.1:c.1482G>A, XM_011515071.3:c.1407G>A, XM_011515071.2:c.1407G>A, XM_011515071.1:c.1407G>A, XM_011515072.3:c.1347G>A, XM_011515072.2:c.1347G>A, XM_011515072.1:c.1347G>A, XM_011515074.3:c.1317G>A, XM_011515074.2:c.1317G>A, XM_011515074.1:c.1317G>A, XM_011515077.3:c.1221G>A, XM_011515077.2:c.1221G>A, XM_011515077.1:c.1221G>A, XM_011515078.3:c.1191G>A, XM_011515078.2:c.1191G>A, XM_011515078.1:c.1191G>A, XM_017011668.2:c.1275G>A, XM_017011668.1:c.1275G>A, XM_047419741.1:c.1320G>A, XM_047419742.1:c.1320G>A, XM_047419726.1:c.1536G>A, XM_047419729.1:c.1506G>A, XM_047419734.1:c.1410G>A, XM_047419736.1:c.1380G>A, XM_047419745.1:c.1275G>A, XM_047419747.1:c.1245G>A, XM_047419735.1:c.1380G>A, XM_047419743.1:c.1320G>A, XM_047419724.1:c.1566G>A, XM_047419744.1:c.1305G>A, XM_047419723.1:c.1578G>A, XM_047419725.1:c.1536G>A, XM_047419728.1:c.1506G>A, XM_047419727.1:c.1512G>A, XM_047419730.1:c.1470G>A, XM_047419732.1:c.1440G>A, XM_047419731.1:c.1452G>A, XM_047419733.1:c.1410G>A, XM_047419738.1:c.1380G>A, XM_047419748.1:c.1209G>A, NM_001220766.1:c.1275G>A, XM_047419739.1:c.1377G>A, XM_047419740.1:c.1335G>A, XM_047419749.1:c.1179G>A, XM_047419746.1:c.1245G>A, NM_001220769.1:c.1149G>A, XM_047419750.1:c.1119G>A, NM_001220773.1:c.987G>A, NM_001220774.1:c.957G>A, NM_001220775.1:c.861G>A, NM_001220776.1:c.831G>A, NM_001220772.1:c.726G>A

          5.

          rs1488112679 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            7:50402994 (GRCh38)
            7:50470692 (GRCh37)
            Canonical SPDI:
            NC_000007.14:50402993:CT:
            Gene:
            IKZF1 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.000054/1 (ALFA)
            -=0.000021/3 (GnomAD)
            -=0.00003/8 (TOPMED)
            -=0.000156/1 (1000Genomes)
            -=0.000223/1 (Estonian)
            HGVS:
            NC_000007.14:g.50402994_50402995del, NC_000007.13:g.50470692_50470693del, NG_034231.1:g.103912_103913del, NM_006060.6:c.*2367_*2368del, NM_006060.5:c.*2367_*2368del, NM_006060.4:c.*2367_*2368del, NM_001220765.3:c.*2367_*2368del, NM_001220765.2:c.*2367_*2368del, NM_001220765.1:c.*2367_*2368del, NM_001291837.2:c.*2367_*2368del, NM_001291837.1:c.*2367_*2368del, NM_001291838.2:c.*2367_*2368del, NM_001291838.1:c.*2367_*2368del, NM_001220768.2:c.*2367_*2368del, NM_001220768.1:c.*2367_*2368del, NM_001220767.2:c.*2367_*2368del, NM_001220767.1:c.*2367_*2368del, NM_001291839.2:c.*2367_*2368del, NM_001291839.1:c.*2367_*2368del, NM_001220770.2:c.*2367_*2368del, NM_001220770.1:c.*2367_*2368del, NM_001220771.2:c.*2367_*2368del, NM_001220771.1:c.*2367_*2368del, NM_001410879.1:c.*2367_*2368del, NM_001291841.1:c.*2367_*2368del, NM_001291842.1:c.*2367_*2368del, NM_001291843.1:c.*2367_*2368del, NM_001291844.1:c.*2367_*2368del, NM_001291840.1:c.*2367_*2368del, XM_011515064.4:c.*2367_*2368del, XM_011515064.3:c.*2367_*2368del, XM_011515064.2:c.*2367_*2368del, XM_011515064.1:c.*2367_*2368del, XM_011515059.4:c.*2367_*2368del, XM_011515059.3:c.*2367_*2368del, XM_011515059.2:c.*2367_*2368del, XM_011515059.1:c.*2367_*2368del, XM_011515061.4:c.*2367_*2368del, XM_011515061.3:c.*2367_*2368del, XM_011515061.2:c.*2367_*2368del, XM_011515061.1:c.*2367_*2368del, XM_011515067.4:c.*2367_*2368del, XM_011515067.3:c.*2367_*2368del, XM_011515067.2:c.*2367_*2368del, XM_011515067.1:c.*2367_*2368del, XM_011515066.3:c.*2367_*2368del, XM_011515063.3:c.*2367_*2368del, XM_011515063.2:c.*2367_*2368del, XM_011515063.1:c.*2367_*2368del, XM_011515062.3:c.*2367_*2368del, XM_011515062.2:c.*2367_*2368del, XM_011515062.1:c.*2367_*2368del, XM_011515060.3:c.*2367_*2368del, XM_011515060.2:c.*2367_*2368del, XM_011515060.1:c.*2367_*2368del, XM_011515058.3:c.*2367_*2368del, XM_011515058.2:c.*2367_*2368del, XM_011515058.1:c.*2367_*2368del, XM_011515065.3:c.*2367_*2368del, XM_011515065.2:c.*2367_*2368del, XM_011515065.1:c.*2367_*2368del, XM_011515073.3:c.*2367_*2368del, XM_011515073.2:c.*2367_*2368del, XM_011515073.1:c.*2367_*2368del, XM_011515070.3:c.*2367_*2368del, XM_011515070.2:c.*2367_*2368del, XM_011515070.1:c.*2367_*2368del, XM_011515071.3:c.*2367_*2368del, XM_011515071.2:c.*2367_*2368del, XM_011515071.1:c.*2367_*2368del, XM_011515072.3:c.*2367_*2368del, XM_011515072.2:c.*2367_*2368del, XM_011515072.1:c.*2367_*2368del, XM_011515074.3:c.*2367_*2368del, XM_011515074.2:c.*2367_*2368del, XM_011515074.1:c.*2367_*2368del, XM_011515077.3:c.*2367_*2368del, XM_011515077.2:c.*2367_*2368del, XM_011515077.1:c.*2367_*2368del, XM_011515078.3:c.*2367_*2368del, XM_011515078.2:c.*2367_*2368del, XM_011515078.1:c.*2367_*2368del, XM_017011668.2:c.*2367_*2368del, XM_017011668.1:c.*2367_*2368del, XM_047419741.1:c.*2367_*2368del, XM_047419742.1:c.*2367_*2368del, XM_047419726.1:c.*2367_*2368del, XM_047419729.1:c.*2367_*2368del, XM_047419734.1:c.*2367_*2368del, XM_047419736.1:c.*2367_*2368del, XM_047419745.1:c.*2367_*2368del, XM_047419747.1:c.*2367_*2368del, XM_047419735.1:c.*2367_*2368del, XM_047419743.1:c.*2367_*2368del, XM_047419724.1:c.*2367_*2368del, XM_047419744.1:c.*2367_*2368del, XM_047419723.1:c.*2367_*2368del, XM_047419725.1:c.*2367_*2368del, XM_047419728.1:c.*2367_*2368del, XM_047419727.1:c.*2367_*2368del, XM_047419730.1:c.*2367_*2368del, XM_047419732.1:c.*2367_*2368del, XM_047419731.1:c.*2367_*2368del, XM_047419733.1:c.*2367_*2368del, XM_047419738.1:c.*2367_*2368del, XM_047419748.1:c.*2367_*2368del, NM_001220766.1:c.*2367_*2368del, XM_047419739.1:c.*2367_*2368del, XM_047419740.1:c.*2367_*2368del, XM_047419749.1:c.*2367_*2368del, XM_047419746.1:c.*2367_*2368del, NM_001220769.1:c.*2367_*2368del, XM_047419750.1:c.*2367_*2368del, NM_001220773.1:c.*2367_*2368del, NM_001220774.1:c.*2367_*2368del, NM_001220775.1:c.*2367_*2368del, NM_001220776.1:c.*2367_*2368del, NM_001220772.1:c.*2367_*2368del

            6.

            rs1485930213 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              7:50404819 (GRCh38)
              7:50472517 (GRCh37)
              Canonical SPDI:
              NC_000007.14:50404818:C:A,NC_000007.14:50404818:C:T
              Gene:
              IKZF1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000007.14:g.50404819C>A, NC_000007.14:g.50404819C>T, NC_000007.13:g.50472517C>A, NC_000007.13:g.50472517C>T, NG_034231.1:g.105737C>A, NG_034231.1:g.105737C>T, NM_006060.6:c.*4192C>A, NM_006060.6:c.*4192C>T, NM_006060.5:c.*4192C>A, NM_006060.5:c.*4192C>T, NM_006060.4:c.*4192C>A, NM_006060.4:c.*4192C>T, NM_001220765.3:c.*4192C>A, NM_001220765.3:c.*4192C>T, NM_001220765.2:c.*4192C>A, NM_001220765.2:c.*4192C>T, NM_001220765.1:c.*4192C>A, NM_001220765.1:c.*4192C>T, NM_001291837.2:c.*4192C>A, NM_001291837.2:c.*4192C>T, NM_001291837.1:c.*4192C>A, NM_001291837.1:c.*4192C>T, NM_001291838.2:c.*4192C>A, NM_001291838.2:c.*4192C>T, NM_001291838.1:c.*4192C>A, NM_001291838.1:c.*4192C>T, NM_001220768.2:c.*4192C>A, NM_001220768.2:c.*4192C>T, NM_001220768.1:c.*4192C>A, NM_001220768.1:c.*4192C>T, NM_001220767.2:c.*4192C>A, NM_001220767.2:c.*4192C>T, NM_001220767.1:c.*4192C>A, NM_001220767.1:c.*4192C>T, NM_001291839.2:c.*4192C>A, NM_001291839.2:c.*4192C>T, NM_001291839.1:c.*4192C>A, NM_001291839.1:c.*4192C>T, NM_001220770.2:c.*4192C>A, NM_001220770.2:c.*4192C>T, NM_001220770.1:c.*4192C>A, NM_001220770.1:c.*4192C>T, NM_001220771.2:c.*4192C>A, NM_001220771.2:c.*4192C>T, NM_001220771.1:c.*4192C>A, NM_001220771.1:c.*4192C>T, NM_001410879.1:c.*4192C>A, NM_001410879.1:c.*4192C>T, NM_001291841.1:c.*4192C>A, NM_001291841.1:c.*4192C>T, NM_001291842.1:c.*4192C>A, NM_001291842.1:c.*4192C>T, NM_001291843.1:c.*4192C>A, NM_001291843.1:c.*4192C>T, NM_001291844.1:c.*4192C>A, NM_001291844.1:c.*4192C>T, NM_001291840.1:c.*4192C>A, NM_001291840.1:c.*4192C>T, XM_011515064.4:c.*4192C>A, XM_011515064.4:c.*4192C>T, XM_011515064.3:c.*4192C>A, XM_011515064.3:c.*4192C>T, XM_011515064.2:c.*4192C>A, XM_011515064.2:c.*4192C>T, XM_011515064.1:c.*4192C>A, XM_011515064.1:c.*4192C>T, XM_011515059.4:c.*4192C>A, XM_011515059.4:c.*4192C>T, XM_011515059.3:c.*4192C>A, XM_011515059.3:c.*4192C>T, XM_011515059.2:c.*4192C>A, XM_011515059.2:c.*4192C>T, XM_011515059.1:c.*4192C>A, XM_011515059.1:c.*4192C>T, XM_011515061.4:c.*4192C>A, XM_011515061.4:c.*4192C>T, XM_011515061.3:c.*4192C>A, XM_011515061.3:c.*4192C>T, XM_011515061.2:c.*4192C>A, XM_011515061.2:c.*4192C>T, XM_011515061.1:c.*4192C>A, XM_011515061.1:c.*4192C>T, XM_011515067.4:c.*4192C>A, XM_011515067.4:c.*4192C>T, XM_011515067.3:c.*4192C>A, XM_011515067.3:c.*4192C>T, XM_011515067.2:c.*4192C>A, XM_011515067.2:c.*4192C>T, XM_011515067.1:c.*4192C>A, XM_011515067.1:c.*4192C>T, XM_011515066.3:c.*4192C>A, XM_011515066.3:c.*4192C>T, XM_011515063.3:c.*4192C>A, XM_011515063.3:c.*4192C>T, XM_011515063.2:c.*4192C>A, XM_011515063.2:c.*4192C>T, XM_011515063.1:c.*4192C>A, XM_011515063.1:c.*4192C>T, XM_011515062.3:c.*4192C>A, XM_011515062.3:c.*4192C>T, XM_011515062.2:c.*4192C>A, XM_011515062.2:c.*4192C>T, XM_011515062.1:c.*4192C>A, XM_011515062.1:c.*4192C>T, XM_011515060.3:c.*4192C>A, XM_011515060.3:c.*4192C>T, XM_011515060.2:c.*4192C>A, XM_011515060.2:c.*4192C>T, XM_011515060.1:c.*4192C>A, XM_011515060.1:c.*4192C>T, XM_011515058.3:c.*4192C>A, XM_011515058.3:c.*4192C>T, XM_011515058.2:c.*4192C>A, XM_011515058.2:c.*4192C>T, XM_011515058.1:c.*4192C>A, XM_011515058.1:c.*4192C>T, XM_011515065.3:c.*4192C>A, XM_011515065.3:c.*4192C>T, XM_011515065.2:c.*4192C>A, XM_011515065.2:c.*4192C>T, XM_011515065.1:c.*4192C>A, XM_011515065.1:c.*4192C>T, XM_011515073.3:c.*4192C>A, XM_011515073.3:c.*4192C>T, XM_011515073.2:c.*4192C>A, XM_011515073.2:c.*4192C>T, XM_011515073.1:c.*4192C>A, XM_011515073.1:c.*4192C>T, XM_011515070.3:c.*4192C>A, XM_011515070.3:c.*4192C>T, XM_011515070.2:c.*4192C>A, XM_011515070.2:c.*4192C>T, XM_011515070.1:c.*4192C>A, XM_011515070.1:c.*4192C>T, XM_011515071.3:c.*4192C>A, XM_011515071.3:c.*4192C>T, XM_011515071.2:c.*4192C>A, XM_011515071.2:c.*4192C>T, XM_011515071.1:c.*4192C>A, XM_011515071.1:c.*4192C>T, XM_011515072.3:c.*4192C>A, XM_011515072.3:c.*4192C>T, XM_011515072.2:c.*4192C>A, XM_011515072.2:c.*4192C>T, XM_011515072.1:c.*4192C>A, XM_011515072.1:c.*4192C>T, XM_011515074.3:c.*4192C>A, XM_011515074.3:c.*4192C>T, XM_011515074.2:c.*4192C>A, XM_011515074.2:c.*4192C>T, XM_011515074.1:c.*4192C>A, XM_011515074.1:c.*4192C>T, XM_011515077.3:c.*4192C>A, XM_011515077.3:c.*4192C>T, XM_011515077.2:c.*4192C>A, XM_011515077.2:c.*4192C>T, XM_011515077.1:c.*4192C>A, XM_011515077.1:c.*4192C>T, XM_011515078.3:c.*4192C>A, XM_011515078.3:c.*4192C>T, XM_011515078.2:c.*4192C>A, XM_011515078.2:c.*4192C>T, XM_011515078.1:c.*4192C>A, XM_011515078.1:c.*4192C>T, XM_017011668.2:c.*4192C>A, XM_017011668.2:c.*4192C>T, XM_017011668.1:c.*4192C>A, XM_017011668.1:c.*4192C>T, XM_047419741.1:c.*4192C>A, XM_047419741.1:c.*4192C>T, XM_047419742.1:c.*4192C>A, XM_047419742.1:c.*4192C>T, XM_047419726.1:c.*4192C>A, XM_047419726.1:c.*4192C>T, XM_047419729.1:c.*4192C>A, XM_047419729.1:c.*4192C>T, XM_047419734.1:c.*4192C>A, XM_047419734.1:c.*4192C>T, XM_047419736.1:c.*4192C>A, XM_047419736.1:c.*4192C>T, XM_047419745.1:c.*4192C>A, XM_047419745.1:c.*4192C>T, XM_047419747.1:c.*4192C>A, XM_047419747.1:c.*4192C>T, XM_047419735.1:c.*4192C>A, XM_047419735.1:c.*4192C>T, XM_047419743.1:c.*4192C>A, XM_047419743.1:c.*4192C>T, XM_047419724.1:c.*4192C>A, XM_047419724.1:c.*4192C>T, XM_047419744.1:c.*4192C>A, XM_047419744.1:c.*4192C>T, XM_047419723.1:c.*4192C>A, XM_047419723.1:c.*4192C>T, XM_047419725.1:c.*4192C>A, XM_047419725.1:c.*4192C>T, XM_047419728.1:c.*4192C>A, XM_047419728.1:c.*4192C>T, XM_047419727.1:c.*4192C>A, XM_047419727.1:c.*4192C>T, XM_047419730.1:c.*4192C>A, XM_047419730.1:c.*4192C>T, XM_047419732.1:c.*4192C>A, XM_047419732.1:c.*4192C>T, XM_047419731.1:c.*4192C>A, XM_047419731.1:c.*4192C>T, XM_047419733.1:c.*4192C>A, XM_047419733.1:c.*4192C>T, XM_047419738.1:c.*4192C>A, XM_047419738.1:c.*4192C>T, XM_047419748.1:c.*4192C>A, XM_047419748.1:c.*4192C>T, NM_001220766.1:c.*4192C>A, NM_001220766.1:c.*4192C>T, XM_047419739.1:c.*4192C>A, XM_047419739.1:c.*4192C>T, XM_047419740.1:c.*4192C>A, XM_047419740.1:c.*4192C>T, XM_047419749.1:c.*4192C>A, XM_047419749.1:c.*4192C>T, XM_047419746.1:c.*4192C>A, XM_047419746.1:c.*4192C>T, NM_001220769.1:c.*4192C>A, NM_001220769.1:c.*4192C>T, XM_047419750.1:c.*4192C>A, XM_047419750.1:c.*4192C>T, NM_001220773.1:c.*4192C>A, NM_001220773.1:c.*4192C>T, NM_001220774.1:c.*4192C>A, NM_001220774.1:c.*4192C>T, NM_001220775.1:c.*4192C>A, NM_001220775.1:c.*4192C>T, NM_001220776.1:c.*4192C>A, NM_001220776.1:c.*4192C>T, NM_001220772.1:c.*4192C>A, NM_001220772.1:c.*4192C>T

              7.

              rs1485193234 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                7:50400755 (GRCh38)
                7:50468453 (GRCh37)
                Canonical SPDI:
                NC_000007.14:50400754:T:A
                Gene:
                IKZF1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000011/3 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:
                NC_000007.14:g.50400755T>A, NC_000007.13:g.50468453T>A, NG_034231.1:g.101673T>A, NM_006060.6:c.*128T>A, NM_006060.5:c.*128T>A, NM_006060.4:c.*128T>A, NM_001220765.3:c.*128T>A, NM_001220765.2:c.*128T>A, NM_001220765.1:c.*128T>A, NM_001291837.2:c.*128T>A, NM_001291837.1:c.*128T>A, NM_001291838.2:c.*128T>A, NM_001291838.1:c.*128T>A, NM_001220768.2:c.*128T>A, NM_001220768.1:c.*128T>A, NM_001220767.2:c.*128T>A, NM_001220767.1:c.*128T>A, NM_001291839.2:c.*128T>A, NM_001291839.1:c.*128T>A, NM_001220770.2:c.*128T>A, NM_001220770.1:c.*128T>A, NM_001220771.2:c.*128T>A, NM_001220771.1:c.*128T>A, NM_001410879.1:c.*128T>A, NM_001291841.1:c.*128T>A, NM_001291842.1:c.*128T>A, NM_001291843.1:c.*128T>A, NM_001291844.1:c.*128T>A, NM_001291840.1:c.*128T>A, XM_011515064.4:c.*128T>A, XM_011515064.3:c.*128T>A, XM_011515064.2:c.*128T>A, XM_011515064.1:c.*128T>A, XM_011515059.4:c.*128T>A, XM_011515059.3:c.*128T>A, XM_011515059.2:c.*128T>A, XM_011515059.1:c.*128T>A, XM_011515061.4:c.*128T>A, XM_011515061.3:c.*128T>A, XM_011515061.2:c.*128T>A, XM_011515061.1:c.*128T>A, XM_011515067.4:c.*128T>A, XM_011515067.3:c.*128T>A, XM_011515067.2:c.*128T>A, XM_011515067.1:c.*128T>A, XM_011515066.3:c.*128T>A, XM_011515063.3:c.*128T>A, XM_011515063.2:c.*128T>A, XM_011515063.1:c.*128T>A, XM_011515062.3:c.*128T>A, XM_011515062.2:c.*128T>A, XM_011515062.1:c.*128T>A, XM_011515060.3:c.*128T>A, XM_011515060.2:c.*128T>A, XM_011515060.1:c.*128T>A, XM_011515058.3:c.*128T>A, XM_011515058.2:c.*128T>A, XM_011515058.1:c.*128T>A, XM_011515065.3:c.*128T>A, XM_011515065.2:c.*128T>A, XM_011515065.1:c.*128T>A, XM_011515073.3:c.*128T>A, XM_011515073.2:c.*128T>A, XM_011515073.1:c.*128T>A, XM_011515070.3:c.*128T>A, XM_011515070.2:c.*128T>A, XM_011515070.1:c.*128T>A, XM_011515071.3:c.*128T>A, XM_011515071.2:c.*128T>A, XM_011515071.1:c.*128T>A, XM_011515072.3:c.*128T>A, XM_011515072.2:c.*128T>A, XM_011515072.1:c.*128T>A, XM_011515074.3:c.*128T>A, XM_011515074.2:c.*128T>A, XM_011515074.1:c.*128T>A, XM_011515077.3:c.*128T>A, XM_011515077.2:c.*128T>A, XM_011515077.1:c.*128T>A, XM_011515078.3:c.*128T>A, XM_011515078.2:c.*128T>A, XM_011515078.1:c.*128T>A, XM_017011668.2:c.*128T>A, XM_017011668.1:c.*128T>A, XM_047419741.1:c.*128T>A, XM_047419742.1:c.*128T>A, XM_047419726.1:c.*128T>A, XM_047419729.1:c.*128T>A, XM_047419734.1:c.*128T>A, XM_047419736.1:c.*128T>A, XM_047419745.1:c.*128T>A, XM_047419747.1:c.*128T>A, XM_047419735.1:c.*128T>A, XM_047419743.1:c.*128T>A, XM_047419724.1:c.*128T>A, XM_047419744.1:c.*128T>A, XM_047419723.1:c.*128T>A, XM_047419725.1:c.*128T>A, XM_047419728.1:c.*128T>A, XM_047419727.1:c.*128T>A, XM_047419730.1:c.*128T>A, XM_047419732.1:c.*128T>A, XM_047419731.1:c.*128T>A, XM_047419733.1:c.*128T>A, XM_047419738.1:c.*128T>A, XM_047419748.1:c.*128T>A, NM_001220766.1:c.*128T>A, XM_047419739.1:c.*128T>A, XM_047419740.1:c.*128T>A, XM_047419749.1:c.*128T>A, XM_047419746.1:c.*128T>A, NM_001220769.1:c.*128T>A, XM_047419750.1:c.*128T>A, NM_001220773.1:c.*128T>A, NM_001220774.1:c.*128T>A, NM_001220775.1:c.*128T>A, NM_001220776.1:c.*128T>A, NM_001220772.1:c.*128T>A

                8.

                rs1484959950 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  7:50403713 (GRCh38)
                  7:50471411 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:50403712:A:G
                  Gene:
                  IKZF1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  G=0.000177/3 (TOMMO)
                  HGVS:
                  NC_000007.14:g.50403713A>G, NC_000007.13:g.50471411A>G, NG_034231.1:g.104631A>G, NM_006060.6:c.*3086A>G, NM_006060.5:c.*3086A>G, NM_006060.4:c.*3086A>G, NM_001220765.3:c.*3086A>G, NM_001220765.2:c.*3086A>G, NM_001220765.1:c.*3086A>G, NM_001291837.2:c.*3086A>G, NM_001291837.1:c.*3086A>G, NM_001291838.2:c.*3086A>G, NM_001291838.1:c.*3086A>G, NM_001220768.2:c.*3086A>G, NM_001220768.1:c.*3086A>G, NM_001220767.2:c.*3086A>G, NM_001220767.1:c.*3086A>G, NM_001291839.2:c.*3086A>G, NM_001291839.1:c.*3086A>G, NM_001220770.2:c.*3086A>G, NM_001220770.1:c.*3086A>G, NM_001220771.2:c.*3086A>G, NM_001220771.1:c.*3086A>G, NM_001410879.1:c.*3086A>G, NM_001291841.1:c.*3086A>G, NM_001291842.1:c.*3086A>G, NM_001291843.1:c.*3086A>G, NM_001291844.1:c.*3086A>G, NM_001291840.1:c.*3086A>G, XM_011515064.4:c.*3086A>G, XM_011515064.3:c.*3086A>G, XM_011515064.2:c.*3086A>G, XM_011515064.1:c.*3086A>G, XM_011515059.4:c.*3086A>G, XM_011515059.3:c.*3086A>G, XM_011515059.2:c.*3086A>G, XM_011515059.1:c.*3086A>G, XM_011515061.4:c.*3086A>G, XM_011515061.3:c.*3086A>G, XM_011515061.2:c.*3086A>G, XM_011515061.1:c.*3086A>G, XM_011515067.4:c.*3086A>G, XM_011515067.3:c.*3086A>G, XM_011515067.2:c.*3086A>G, XM_011515067.1:c.*3086A>G, XM_011515066.3:c.*3086A>G, XM_011515063.3:c.*3086A>G, XM_011515063.2:c.*3086A>G, XM_011515063.1:c.*3086A>G, XM_011515062.3:c.*3086A>G, XM_011515062.2:c.*3086A>G, XM_011515062.1:c.*3086A>G, XM_011515060.3:c.*3086A>G, XM_011515060.2:c.*3086A>G, XM_011515060.1:c.*3086A>G, XM_011515058.3:c.*3086A>G, XM_011515058.2:c.*3086A>G, XM_011515058.1:c.*3086A>G, XM_011515065.3:c.*3086A>G, XM_011515065.2:c.*3086A>G, XM_011515065.1:c.*3086A>G, XM_011515073.3:c.*3086A>G, XM_011515073.2:c.*3086A>G, XM_011515073.1:c.*3086A>G, XM_011515070.3:c.*3086A>G, XM_011515070.2:c.*3086A>G, XM_011515070.1:c.*3086A>G, XM_011515071.3:c.*3086A>G, XM_011515071.2:c.*3086A>G, XM_011515071.1:c.*3086A>G, XM_011515072.3:c.*3086A>G, XM_011515072.2:c.*3086A>G, XM_011515072.1:c.*3086A>G, XM_011515074.3:c.*3086A>G, XM_011515074.2:c.*3086A>G, XM_011515074.1:c.*3086A>G, XM_011515077.3:c.*3086A>G, XM_011515077.2:c.*3086A>G, XM_011515077.1:c.*3086A>G, XM_011515078.3:c.*3086A>G, XM_011515078.2:c.*3086A>G, XM_011515078.1:c.*3086A>G, XM_017011668.2:c.*3086A>G, XM_017011668.1:c.*3086A>G, XM_047419741.1:c.*3086A>G, XM_047419742.1:c.*3086A>G, XM_047419726.1:c.*3086A>G, XM_047419729.1:c.*3086A>G, XM_047419734.1:c.*3086A>G, XM_047419736.1:c.*3086A>G, XM_047419745.1:c.*3086A>G, XM_047419747.1:c.*3086A>G, XM_047419735.1:c.*3086A>G, XM_047419743.1:c.*3086A>G, XM_047419724.1:c.*3086A>G, XM_047419744.1:c.*3086A>G, XM_047419723.1:c.*3086A>G, XM_047419725.1:c.*3086A>G, XM_047419728.1:c.*3086A>G, XM_047419727.1:c.*3086A>G, XM_047419730.1:c.*3086A>G, XM_047419732.1:c.*3086A>G, XM_047419731.1:c.*3086A>G, XM_047419733.1:c.*3086A>G, XM_047419738.1:c.*3086A>G, XM_047419748.1:c.*3086A>G, NM_001220766.1:c.*3086A>G, XM_047419739.1:c.*3086A>G, XM_047419740.1:c.*3086A>G, XM_047419749.1:c.*3086A>G, XM_047419746.1:c.*3086A>G, NM_001220769.1:c.*3086A>G, XM_047419750.1:c.*3086A>G, NM_001220773.1:c.*3086A>G, NM_001220774.1:c.*3086A>G, NM_001220775.1:c.*3086A>G, NM_001220776.1:c.*3086A>G, NM_001220772.1:c.*3086A>G

                  9.

                  rs1484946625 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    7:50404384 (GRCh38)
                    7:50472082 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:50404383:C:T
                    Gene:
                    IKZF1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000015/4 (TOPMED)
                    HGVS:
                    NC_000007.14:g.50404384C>T, NC_000007.13:g.50472082C>T, NG_034231.1:g.105302C>T, NM_006060.6:c.*3757C>T, NM_006060.5:c.*3757C>T, NM_006060.4:c.*3757C>T, NM_001220765.3:c.*3757C>T, NM_001220765.2:c.*3757C>T, NM_001220765.1:c.*3757C>T, NM_001291837.2:c.*3757C>T, NM_001291837.1:c.*3757C>T, NM_001291838.2:c.*3757C>T, NM_001291838.1:c.*3757C>T, NM_001220768.2:c.*3757C>T, NM_001220768.1:c.*3757C>T, NM_001220767.2:c.*3757C>T, NM_001220767.1:c.*3757C>T, NM_001291839.2:c.*3757C>T, NM_001291839.1:c.*3757C>T, NM_001220770.2:c.*3757C>T, NM_001220770.1:c.*3757C>T, NM_001220771.2:c.*3757C>T, NM_001220771.1:c.*3757C>T, NM_001410879.1:c.*3757C>T, NM_001291841.1:c.*3757C>T, NM_001291842.1:c.*3757C>T, NM_001291843.1:c.*3757C>T, NM_001291844.1:c.*3757C>T, NM_001291840.1:c.*3757C>T, XM_011515064.4:c.*3757C>T, XM_011515064.3:c.*3757C>T, XM_011515064.2:c.*3757C>T, XM_011515064.1:c.*3757C>T, XM_011515059.4:c.*3757C>T, XM_011515059.3:c.*3757C>T, XM_011515059.2:c.*3757C>T, XM_011515059.1:c.*3757C>T, XM_011515061.4:c.*3757C>T, XM_011515061.3:c.*3757C>T, XM_011515061.2:c.*3757C>T, XM_011515061.1:c.*3757C>T, XM_011515067.4:c.*3757C>T, XM_011515067.3:c.*3757C>T, XM_011515067.2:c.*3757C>T, XM_011515067.1:c.*3757C>T, XM_011515066.3:c.*3757C>T, XM_011515063.3:c.*3757C>T, XM_011515063.2:c.*3757C>T, XM_011515063.1:c.*3757C>T, XM_011515062.3:c.*3757C>T, XM_011515062.2:c.*3757C>T, XM_011515062.1:c.*3757C>T, XM_011515060.3:c.*3757C>T, XM_011515060.2:c.*3757C>T, XM_011515060.1:c.*3757C>T, XM_011515058.3:c.*3757C>T, XM_011515058.2:c.*3757C>T, XM_011515058.1:c.*3757C>T, XM_011515065.3:c.*3757C>T, XM_011515065.2:c.*3757C>T, XM_011515065.1:c.*3757C>T, XM_011515073.3:c.*3757C>T, XM_011515073.2:c.*3757C>T, XM_011515073.1:c.*3757C>T, XM_011515070.3:c.*3757C>T, XM_011515070.2:c.*3757C>T, XM_011515070.1:c.*3757C>T, XM_011515071.3:c.*3757C>T, XM_011515071.2:c.*3757C>T, XM_011515071.1:c.*3757C>T, XM_011515072.3:c.*3757C>T, XM_011515072.2:c.*3757C>T, XM_011515072.1:c.*3757C>T, XM_011515074.3:c.*3757C>T, XM_011515074.2:c.*3757C>T, XM_011515074.1:c.*3757C>T, XM_011515077.3:c.*3757C>T, XM_011515077.2:c.*3757C>T, XM_011515077.1:c.*3757C>T, XM_011515078.3:c.*3757C>T, XM_011515078.2:c.*3757C>T, XM_011515078.1:c.*3757C>T, XM_017011668.2:c.*3757C>T, XM_017011668.1:c.*3757C>T, XM_047419741.1:c.*3757C>T, XM_047419742.1:c.*3757C>T, XM_047419726.1:c.*3757C>T, XM_047419729.1:c.*3757C>T, XM_047419734.1:c.*3757C>T, XM_047419736.1:c.*3757C>T, XM_047419745.1:c.*3757C>T, XM_047419747.1:c.*3757C>T, XM_047419735.1:c.*3757C>T, XM_047419743.1:c.*3757C>T, XM_047419724.1:c.*3757C>T, XM_047419744.1:c.*3757C>T, XM_047419723.1:c.*3757C>T, XM_047419725.1:c.*3757C>T, XM_047419728.1:c.*3757C>T, XM_047419727.1:c.*3757C>T, XM_047419730.1:c.*3757C>T, XM_047419732.1:c.*3757C>T, XM_047419731.1:c.*3757C>T, XM_047419733.1:c.*3757C>T, XM_047419738.1:c.*3757C>T, XM_047419748.1:c.*3757C>T, NM_001220766.1:c.*3757C>T, XM_047419739.1:c.*3757C>T, XM_047419740.1:c.*3757C>T, XM_047419749.1:c.*3757C>T, XM_047419746.1:c.*3757C>T, NM_001220769.1:c.*3757C>T, XM_047419750.1:c.*3757C>T, NM_001220773.1:c.*3757C>T, NM_001220774.1:c.*3757C>T, NM_001220775.1:c.*3757C>T, NM_001220776.1:c.*3757C>T, NM_001220772.1:c.*3757C>T

                    10.

                    rs1484929828 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      7:50404704 (GRCh38)
                      7:50472402 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:50404703:A:G
                      Gene:
                      IKZF1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000007.14:g.50404704A>G, NC_000007.13:g.50472402A>G, NG_034231.1:g.105622A>G, NM_006060.6:c.*4077A>G, NM_006060.5:c.*4077A>G, NM_006060.4:c.*4077A>G, NM_001220765.3:c.*4077A>G, NM_001220765.2:c.*4077A>G, NM_001220765.1:c.*4077A>G, NM_001291837.2:c.*4077A>G, NM_001291837.1:c.*4077A>G, NM_001291838.2:c.*4077A>G, NM_001291838.1:c.*4077A>G, NM_001220768.2:c.*4077A>G, NM_001220768.1:c.*4077A>G, NM_001220767.2:c.*4077A>G, NM_001220767.1:c.*4077A>G, NM_001291839.2:c.*4077A>G, NM_001291839.1:c.*4077A>G, NM_001220770.2:c.*4077A>G, NM_001220770.1:c.*4077A>G, NM_001220771.2:c.*4077A>G, NM_001220771.1:c.*4077A>G, NM_001410879.1:c.*4077A>G, NM_001291841.1:c.*4077A>G, NM_001291842.1:c.*4077A>G, NM_001291843.1:c.*4077A>G, NM_001291844.1:c.*4077A>G, NM_001291840.1:c.*4077A>G, XM_011515064.4:c.*4077A>G, XM_011515064.3:c.*4077A>G, XM_011515064.2:c.*4077A>G, XM_011515064.1:c.*4077A>G, XM_011515059.4:c.*4077A>G, XM_011515059.3:c.*4077A>G, XM_011515059.2:c.*4077A>G, XM_011515059.1:c.*4077A>G, XM_011515061.4:c.*4077A>G, XM_011515061.3:c.*4077A>G, XM_011515061.2:c.*4077A>G, XM_011515061.1:c.*4077A>G, XM_011515067.4:c.*4077A>G, XM_011515067.3:c.*4077A>G, XM_011515067.2:c.*4077A>G, XM_011515067.1:c.*4077A>G, XM_011515066.3:c.*4077A>G, XM_011515063.3:c.*4077A>G, XM_011515063.2:c.*4077A>G, XM_011515063.1:c.*4077A>G, XM_011515062.3:c.*4077A>G, XM_011515062.2:c.*4077A>G, XM_011515062.1:c.*4077A>G, XM_011515060.3:c.*4077A>G, XM_011515060.2:c.*4077A>G, XM_011515060.1:c.*4077A>G, XM_011515058.3:c.*4077A>G, XM_011515058.2:c.*4077A>G, XM_011515058.1:c.*4077A>G, XM_011515065.3:c.*4077A>G, XM_011515065.2:c.*4077A>G, XM_011515065.1:c.*4077A>G, XM_011515073.3:c.*4077A>G, XM_011515073.2:c.*4077A>G, XM_011515073.1:c.*4077A>G, XM_011515070.3:c.*4077A>G, XM_011515070.2:c.*4077A>G, XM_011515070.1:c.*4077A>G, XM_011515071.3:c.*4077A>G, XM_011515071.2:c.*4077A>G, XM_011515071.1:c.*4077A>G, XM_011515072.3:c.*4077A>G, XM_011515072.2:c.*4077A>G, XM_011515072.1:c.*4077A>G, XM_011515074.3:c.*4077A>G, XM_011515074.2:c.*4077A>G, XM_011515074.1:c.*4077A>G, XM_011515077.3:c.*4077A>G, XM_011515077.2:c.*4077A>G, XM_011515077.1:c.*4077A>G, XM_011515078.3:c.*4077A>G, XM_011515078.2:c.*4077A>G, XM_011515078.1:c.*4077A>G, XM_017011668.2:c.*4077A>G, XM_017011668.1:c.*4077A>G, XM_047419741.1:c.*4077A>G, XM_047419742.1:c.*4077A>G, XM_047419726.1:c.*4077A>G, XM_047419729.1:c.*4077A>G, XM_047419734.1:c.*4077A>G, XM_047419736.1:c.*4077A>G, XM_047419745.1:c.*4077A>G, XM_047419747.1:c.*4077A>G, XM_047419735.1:c.*4077A>G, XM_047419743.1:c.*4077A>G, XM_047419724.1:c.*4077A>G, XM_047419744.1:c.*4077A>G, XM_047419723.1:c.*4077A>G, XM_047419725.1:c.*4077A>G, XM_047419728.1:c.*4077A>G, XM_047419727.1:c.*4077A>G, XM_047419730.1:c.*4077A>G, XM_047419732.1:c.*4077A>G, XM_047419731.1:c.*4077A>G, XM_047419733.1:c.*4077A>G, XM_047419738.1:c.*4077A>G, XM_047419748.1:c.*4077A>G, NM_001220766.1:c.*4077A>G, XM_047419739.1:c.*4077A>G, XM_047419740.1:c.*4077A>G, XM_047419749.1:c.*4077A>G, XM_047419746.1:c.*4077A>G, NM_001220769.1:c.*4077A>G, XM_047419750.1:c.*4077A>G, NM_001220773.1:c.*4077A>G, NM_001220774.1:c.*4077A>G, NM_001220775.1:c.*4077A>G, NM_001220776.1:c.*4077A>G, NM_001220772.1:c.*4077A>G

                      11.

                      rs1483969414 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        7:50403927 (GRCh38)
                        7:50471625 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:50403926:T:C,NC_000007.14:50403926:T:G
                        Gene:
                        IKZF1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000007.14:g.50403927T>C, NC_000007.14:g.50403927T>G, NC_000007.13:g.50471625T>C, NC_000007.13:g.50471625T>G, NG_034231.1:g.104845T>C, NG_034231.1:g.104845T>G, NM_006060.6:c.*3300T>C, NM_006060.6:c.*3300T>G, NM_006060.5:c.*3300T>C, NM_006060.5:c.*3300T>G, NM_006060.4:c.*3300T>C, NM_006060.4:c.*3300T>G, NM_001220765.3:c.*3300T>C, NM_001220765.3:c.*3300T>G, NM_001220765.2:c.*3300T>C, NM_001220765.2:c.*3300T>G, NM_001220765.1:c.*3300T>C, NM_001220765.1:c.*3300T>G, NM_001291837.2:c.*3300T>C, NM_001291837.2:c.*3300T>G, NM_001291837.1:c.*3300T>C, NM_001291837.1:c.*3300T>G, NM_001291838.2:c.*3300T>C, NM_001291838.2:c.*3300T>G, NM_001291838.1:c.*3300T>C, NM_001291838.1:c.*3300T>G, NM_001220768.2:c.*3300T>C, NM_001220768.2:c.*3300T>G, NM_001220768.1:c.*3300T>C, NM_001220768.1:c.*3300T>G, NM_001220767.2:c.*3300T>C, NM_001220767.2:c.*3300T>G, NM_001220767.1:c.*3300T>C, NM_001220767.1:c.*3300T>G, NM_001291839.2:c.*3300T>C, NM_001291839.2:c.*3300T>G, NM_001291839.1:c.*3300T>C, NM_001291839.1:c.*3300T>G, NM_001220770.2:c.*3300T>C, NM_001220770.2:c.*3300T>G, NM_001220770.1:c.*3300T>C, NM_001220770.1:c.*3300T>G, NM_001220771.2:c.*3300T>C, NM_001220771.2:c.*3300T>G, NM_001220771.1:c.*3300T>C, NM_001220771.1:c.*3300T>G, NM_001410879.1:c.*3300T>C, NM_001410879.1:c.*3300T>G, NM_001291841.1:c.*3300T>C, NM_001291841.1:c.*3300T>G, NM_001291842.1:c.*3300T>C, NM_001291842.1:c.*3300T>G, NM_001291843.1:c.*3300T>C, NM_001291843.1:c.*3300T>G, NM_001291844.1:c.*3300T>C, NM_001291844.1:c.*3300T>G, NM_001291840.1:c.*3300T>C, NM_001291840.1:c.*3300T>G, XM_011515064.4:c.*3300T>C, XM_011515064.4:c.*3300T>G, XM_011515064.3:c.*3300T>C, XM_011515064.3:c.*3300T>G, XM_011515064.2:c.*3300T>C, XM_011515064.2:c.*3300T>G, XM_011515064.1:c.*3300T>C, XM_011515064.1:c.*3300T>G, XM_011515059.4:c.*3300T>C, XM_011515059.4:c.*3300T>G, XM_011515059.3:c.*3300T>C, XM_011515059.3:c.*3300T>G, XM_011515059.2:c.*3300T>C, XM_011515059.2:c.*3300T>G, XM_011515059.1:c.*3300T>C, XM_011515059.1:c.*3300T>G, XM_011515061.4:c.*3300T>C, XM_011515061.4:c.*3300T>G, XM_011515061.3:c.*3300T>C, XM_011515061.3:c.*3300T>G, XM_011515061.2:c.*3300T>C, XM_011515061.2:c.*3300T>G, XM_011515061.1:c.*3300T>C, XM_011515061.1:c.*3300T>G, XM_011515067.4:c.*3300T>C, XM_011515067.4:c.*3300T>G, XM_011515067.3:c.*3300T>C, XM_011515067.3:c.*3300T>G, XM_011515067.2:c.*3300T>C, XM_011515067.2:c.*3300T>G, XM_011515067.1:c.*3300T>C, XM_011515067.1:c.*3300T>G, XM_011515066.3:c.*3300T>C, XM_011515066.3:c.*3300T>G, XM_011515063.3:c.*3300T>C, XM_011515063.3:c.*3300T>G, XM_011515063.2:c.*3300T>C, XM_011515063.2:c.*3300T>G, XM_011515063.1:c.*3300T>C, XM_011515063.1:c.*3300T>G, XM_011515062.3:c.*3300T>C, XM_011515062.3:c.*3300T>G, XM_011515062.2:c.*3300T>C, XM_011515062.2:c.*3300T>G, XM_011515062.1:c.*3300T>C, XM_011515062.1:c.*3300T>G, XM_011515060.3:c.*3300T>C, XM_011515060.3:c.*3300T>G, XM_011515060.2:c.*3300T>C, XM_011515060.2:c.*3300T>G, XM_011515060.1:c.*3300T>C, XM_011515060.1:c.*3300T>G, XM_011515058.3:c.*3300T>C, XM_011515058.3:c.*3300T>G, XM_011515058.2:c.*3300T>C, XM_011515058.2:c.*3300T>G, XM_011515058.1:c.*3300T>C, XM_011515058.1:c.*3300T>G, XM_011515065.3:c.*3300T>C, XM_011515065.3:c.*3300T>G, XM_011515065.2:c.*3300T>C, XM_011515065.2:c.*3300T>G, XM_011515065.1:c.*3300T>C, XM_011515065.1:c.*3300T>G, XM_011515073.3:c.*3300T>C, XM_011515073.3:c.*3300T>G, XM_011515073.2:c.*3300T>C, XM_011515073.2:c.*3300T>G, XM_011515073.1:c.*3300T>C, XM_011515073.1:c.*3300T>G, XM_011515070.3:c.*3300T>C, XM_011515070.3:c.*3300T>G, XM_011515070.2:c.*3300T>C, XM_011515070.2:c.*3300T>G, XM_011515070.1:c.*3300T>C, XM_011515070.1:c.*3300T>G, XM_011515071.3:c.*3300T>C, XM_011515071.3:c.*3300T>G, XM_011515071.2:c.*3300T>C, XM_011515071.2:c.*3300T>G, XM_011515071.1:c.*3300T>C, XM_011515071.1:c.*3300T>G, XM_011515072.3:c.*3300T>C, XM_011515072.3:c.*3300T>G, XM_011515072.2:c.*3300T>C, XM_011515072.2:c.*3300T>G, XM_011515072.1:c.*3300T>C, XM_011515072.1:c.*3300T>G, XM_011515074.3:c.*3300T>C, XM_011515074.3:c.*3300T>G, XM_011515074.2:c.*3300T>C, XM_011515074.2:c.*3300T>G, XM_011515074.1:c.*3300T>C, XM_011515074.1:c.*3300T>G, XM_011515077.3:c.*3300T>C, XM_011515077.3:c.*3300T>G, XM_011515077.2:c.*3300T>C, XM_011515077.2:c.*3300T>G, XM_011515077.1:c.*3300T>C, XM_011515077.1:c.*3300T>G, XM_011515078.3:c.*3300T>C, XM_011515078.3:c.*3300T>G, XM_011515078.2:c.*3300T>C, XM_011515078.2:c.*3300T>G, XM_011515078.1:c.*3300T>C, XM_011515078.1:c.*3300T>G, XM_017011668.2:c.*3300T>C, XM_017011668.2:c.*3300T>G, XM_017011668.1:c.*3300T>C, XM_017011668.1:c.*3300T>G, XM_047419741.1:c.*3300T>C, XM_047419741.1:c.*3300T>G, XM_047419742.1:c.*3300T>C, XM_047419742.1:c.*3300T>G, XM_047419726.1:c.*3300T>C, XM_047419726.1:c.*3300T>G, XM_047419729.1:c.*3300T>C, XM_047419729.1:c.*3300T>G, XM_047419734.1:c.*3300T>C, XM_047419734.1:c.*3300T>G, XM_047419736.1:c.*3300T>C, XM_047419736.1:c.*3300T>G, XM_047419745.1:c.*3300T>C, XM_047419745.1:c.*3300T>G, XM_047419747.1:c.*3300T>C, XM_047419747.1:c.*3300T>G, XM_047419735.1:c.*3300T>C, XM_047419735.1:c.*3300T>G, XM_047419743.1:c.*3300T>C, XM_047419743.1:c.*3300T>G, XM_047419724.1:c.*3300T>C, XM_047419724.1:c.*3300T>G, XM_047419744.1:c.*3300T>C, XM_047419744.1:c.*3300T>G, XM_047419723.1:c.*3300T>C, XM_047419723.1:c.*3300T>G, XM_047419725.1:c.*3300T>C, XM_047419725.1:c.*3300T>G, XM_047419728.1:c.*3300T>C, XM_047419728.1:c.*3300T>G, XM_047419727.1:c.*3300T>C, XM_047419727.1:c.*3300T>G, XM_047419730.1:c.*3300T>C, XM_047419730.1:c.*3300T>G, XM_047419732.1:c.*3300T>C, XM_047419732.1:c.*3300T>G, XM_047419731.1:c.*3300T>C, XM_047419731.1:c.*3300T>G, XM_047419733.1:c.*3300T>C, XM_047419733.1:c.*3300T>G, XM_047419738.1:c.*3300T>C, XM_047419738.1:c.*3300T>G, XM_047419748.1:c.*3300T>C, XM_047419748.1:c.*3300T>G, NM_001220766.1:c.*3300T>C, NM_001220766.1:c.*3300T>G, XM_047419739.1:c.*3300T>C, XM_047419739.1:c.*3300T>G, XM_047419740.1:c.*3300T>C, XM_047419740.1:c.*3300T>G, XM_047419749.1:c.*3300T>C, XM_047419749.1:c.*3300T>G, XM_047419746.1:c.*3300T>C, XM_047419746.1:c.*3300T>G, NM_001220769.1:c.*3300T>C, NM_001220769.1:c.*3300T>G, XM_047419750.1:c.*3300T>C, XM_047419750.1:c.*3300T>G, NM_001220773.1:c.*3300T>C, NM_001220773.1:c.*3300T>G, NM_001220774.1:c.*3300T>C, NM_001220774.1:c.*3300T>G, NM_001220775.1:c.*3300T>C, NM_001220775.1:c.*3300T>G, NM_001220776.1:c.*3300T>C, NM_001220776.1:c.*3300T>G, NM_001220772.1:c.*3300T>C, NM_001220772.1:c.*3300T>G

                        12.

                        rs1483931742 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          7:50400172 (GRCh38)
                          7:50467870 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:50400171:G:A
                          Gene:
                          IKZF1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by cluster
                          HGVS:
                          NC_000007.14:g.50400172G>A, NC_000007.13:g.50467870G>A, NG_034231.1:g.101090G>A, NM_006060.6:c.1105G>A, NM_006060.5:c.1105G>A, NM_006060.4:c.1105G>A, NM_001220765.3:c.979G>A, NM_001220765.2:c.979G>A, NM_001220765.1:c.979G>A, NM_001291837.2:c.979G>A, NM_001291837.1:c.979G>A, NM_001291838.2:c.844G>A, NM_001291838.1:c.844G>A, NM_001220768.2:c.844G>A, NM_001220768.1:c.844G>A, NM_001220767.2:c.814G>A, NM_001220767.1:c.814G>A, NM_001291839.2:c.718G>A, NM_001291839.1:c.718G>A, NM_001220770.2:c.688G>A, NM_001220770.1:c.688G>A, NM_001220771.2:c.676G>A, NM_001220771.1:c.676G>A, NM_001410879.1:c.1165G>A, NM_001291841.1:c.676G>A, NM_001291842.1:c.646G>A, NM_001291843.1:c.550G>A, NM_001291844.1:c.520G>A, NM_001291840.1:c.415G>A, XM_011515064.4:c.1165G>A, XM_011515064.3:c.1165G>A, XM_011515064.2:c.1165G>A, XM_011515064.1:c.1165G>A, XM_011515059.4:c.1207G>A, XM_011515059.3:c.1207G>A, XM_011515059.2:c.1207G>A, XM_011515059.1:c.1207G>A, XM_011515061.4:c.1177G>A, XM_011515061.3:c.1177G>A, XM_011515061.2:c.1177G>A, XM_011515061.1:c.1177G>A, XM_011515067.4:c.1111G>A, XM_011515067.3:c.1111G>A, XM_011515067.2:c.1111G>A, XM_011515067.1:c.1111G>A, XM_011515066.3:c.1165G>A, XM_011515063.3:c.1165G>A, XM_011515063.2:c.1165G>A, XM_011515063.1:c.1165G>A, XM_011515062.3:c.1165G>A, XM_011515062.2:c.1165G>A, XM_011515062.1:c.1165G>A, XM_011515060.3:c.1195G>A, XM_011515060.2:c.1195G>A, XM_011515060.1:c.1195G>A, XM_011515058.3:c.1237G>A, XM_011515058.2:c.1237G>A, XM_011515058.1:c.1237G>A, XM_011515065.3:c.1165G>A, XM_011515065.2:c.1165G>A, XM_011515065.1:c.1165G>A, XM_011515073.3:c.904G>A, XM_011515073.2:c.904G>A, XM_011515073.1:c.904G>A, XM_011515070.3:c.1051G>A, XM_011515070.2:c.1051G>A, XM_011515070.1:c.1051G>A, XM_011515071.3:c.976G>A, XM_011515071.2:c.976G>A, XM_011515071.1:c.976G>A, XM_011515072.3:c.916G>A, XM_011515072.2:c.916G>A, XM_011515072.1:c.916G>A, XM_011515074.3:c.886G>A, XM_011515074.2:c.886G>A, XM_011515074.1:c.886G>A, XM_011515077.3:c.790G>A, XM_011515077.2:c.790G>A, XM_011515077.1:c.790G>A, XM_011515078.3:c.760G>A, XM_011515078.2:c.760G>A, XM_011515078.1:c.760G>A, XM_017011668.2:c.844G>A, XM_017011668.1:c.844G>A, XM_047419741.1:c.889G>A, XM_047419742.1:c.889G>A, XM_047419726.1:c.1105G>A, XM_047419729.1:c.1075G>A, XM_047419734.1:c.979G>A, XM_047419736.1:c.949G>A, XM_047419745.1:c.844G>A, XM_047419747.1:c.814G>A, XM_047419735.1:c.949G>A, XM_047419743.1:c.889G>A, XM_047419724.1:c.1135G>A, XM_047419744.1:c.874G>A, XM_047419723.1:c.1147G>A, XM_047419725.1:c.1105G>A, XM_047419728.1:c.1075G>A, XM_047419727.1:c.1081G>A, XM_047419730.1:c.1039G>A, XM_047419732.1:c.1009G>A, XM_047419731.1:c.1021G>A, XM_047419733.1:c.979G>A, XM_047419738.1:c.949G>A, XM_047419748.1:c.778G>A, NM_001220766.1:c.844G>A, XM_047419739.1:c.946G>A, XM_047419740.1:c.904G>A, XM_047419749.1:c.748G>A, XM_047419746.1:c.814G>A, NM_001220769.1:c.718G>A, XM_047419750.1:c.688G>A, NM_001220773.1:c.556G>A, NM_001220774.1:c.526G>A, NM_001220775.1:c.430G>A, NM_001220776.1:c.400G>A, NM_001220772.1:c.295G>A, NP_006051.1:p.Ala369Thr, NP_001207694.1:p.Ala327Thr, NP_001278766.1:p.Ala327Thr, NP_001278767.1:p.Ala282Thr, NP_001207697.1:p.Ala282Thr, NP_001207696.1:p.Ala272Thr, NP_001278768.1:p.Ala240Thr, NP_001207699.1:p.Ala230Thr, NP_001207700.1:p.Ala226Thr, NP_001278770.1:p.Ala226Thr, NP_001278771.1:p.Ala216Thr, NP_001278772.1:p.Ala184Thr, NP_001278773.1:p.Ala174Thr, NP_001278769.1:p.Ala139Thr, XP_011513366.1:p.Ala389Thr, XP_011513361.1:p.Ala403Thr, XP_011513363.1:p.Ala393Thr, XP_011513369.1:p.Ala371Thr, XP_011513368.1:p.Ala389Thr, XP_011513365.1:p.Ala389Thr, XP_011513364.1:p.Ala389Thr, XP_011513362.1:p.Ala399Thr, XP_011513360.1:p.Ala413Thr, XP_011513367.1:p.Ala389Thr, XP_011513375.1:p.Ala302Thr, XP_011513372.1:p.Ala351Thr, XP_011513373.1:p.Ala326Thr, XP_011513374.1:p.Ala306Thr, XP_011513376.1:p.Ala296Thr, XP_011513379.1:p.Ala264Thr, XP_011513380.1:p.Ala254Thr, XP_016867157.1:p.Ala282Thr, XP_047275697.1:p.Ala297Thr, XP_047275698.1:p.Ala297Thr, XP_047275682.1:p.Ala369Thr, XP_047275685.1:p.Ala359Thr, XP_047275690.1:p.Ala327Thr, XP_047275692.1:p.Ala317Thr, XP_047275701.1:p.Ala282Thr, XP_047275703.1:p.Ala272Thr, XP_047275691.1:p.Ala317Thr, XP_047275699.1:p.Ala297Thr, XP_047275680.1:p.Ala379Thr, XP_047275700.1:p.Ala292Thr, XP_047275679.1:p.Ala383Thr, XP_047275681.1:p.Ala369Thr, XP_047275684.1:p.Ala359Thr, XP_047275683.1:p.Ala361Thr, XP_047275686.1:p.Ala347Thr, XP_047275688.1:p.Ala337Thr, XP_047275687.1:p.Ala341Thr, XP_047275689.1:p.Ala327Thr, XP_047275694.1:p.Ala317Thr, XP_047275704.1:p.Ala260Thr, XP_047275695.1:p.Ala316Thr, XP_047275696.1:p.Ala302Thr, XP_047275705.1:p.Ala250Thr, XP_047275702.1:p.Ala272Thr, XP_047275706.1:p.Ala230Thr

                          13.

                          rs1483773472 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            7:50327744 (GRCh38)
                            7:50367340 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:50327743:T:A
                            Gene:
                            IKZF1 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                            HGVS:
                            NC_000007.14:g.50327744T>A, NC_000007.13:g.50367340T>A, NG_034231.1:g.28662T>A, NM_006060.6:c.147T>A, NM_006060.5:c.147T>A, NM_006060.4:c.147T>A, NM_001220765.3:c.147T>A, NM_001220765.2:c.147T>A, NM_001220765.1:c.147T>A, NM_001291837.2:c.147T>A, NM_001291837.1:c.147T>A, NM_001291838.2:c.147T>A, NM_001291838.1:c.147T>A, NM_001220768.2:c.147T>A, NM_001220768.1:c.147T>A, NM_001220767.2:c.147T>A, NM_001220767.1:c.147T>A, NM_001291839.2:c.147T>A, NM_001291839.1:c.147T>A, NM_001220770.2:c.147T>A, NM_001220770.1:c.147T>A, NM_001220771.2:c.147T>A, NM_001220771.1:c.147T>A, NM_001291845.2:c.147T>A, NM_001291845.1:c.147T>A, NM_001291847.2:c.147T>A, NM_001291847.1:c.147T>A, NM_001291846.2:c.147T>A, NM_001291846.1:c.147T>A, NM_001410879.1:c.147T>A, NM_001291841.1:c.147T>A, NM_001291842.1:c.147T>A, NM_001291843.1:c.147T>A, NM_001291844.1:c.147T>A, NM_001291840.1:c.147T>A, XM_011515064.4:c.147T>A, XM_011515064.3:c.147T>A, XM_011515064.2:c.147T>A, XM_011515064.1:c.147T>A, XM_011515059.4:c.219T>A, XM_011515059.3:c.219T>A, XM_011515059.2:c.219T>A, XM_011515059.1:c.219T>A, XM_011515061.4:c.219T>A, XM_011515061.3:c.219T>A, XM_011515061.2:c.219T>A, XM_011515061.1:c.219T>A, XM_011515067.4:c.219T>A, XM_011515067.3:c.219T>A, XM_011515067.2:c.219T>A, XM_011515067.1:c.219T>A, XM_011515066.3:c.147T>A, XM_011515063.3:c.147T>A, XM_011515063.2:c.147T>A, XM_011515063.1:c.147T>A, XM_011515062.3:c.147T>A, XM_011515062.2:c.147T>A, XM_011515062.1:c.147T>A, XM_011515060.3:c.177T>A, XM_011515060.2:c.177T>A, XM_011515060.1:c.177T>A, XM_011515058.3:c.219T>A, XM_011515058.2:c.219T>A, XM_011515058.1:c.219T>A, XM_011515065.3:c.147T>A, XM_011515065.2:c.147T>A, XM_011515065.1:c.147T>A, XM_011515073.3:c.147T>A, XM_011515073.2:c.147T>A, XM_011515073.1:c.147T>A, XM_011515070.3:c.219T>A, XM_011515070.2:c.219T>A, XM_011515070.1:c.219T>A, XM_011515071.3:c.219T>A, XM_011515071.2:c.219T>A, XM_011515071.1:c.219T>A, XM_011515072.3:c.219T>A, XM_011515072.2:c.219T>A, XM_011515072.1:c.219T>A, XM_011515074.3:c.219T>A, XM_011515074.2:c.219T>A, XM_011515074.1:c.219T>A, XM_011515077.3:c.219T>A, XM_011515077.2:c.219T>A, XM_011515077.1:c.219T>A, XM_011515078.3:c.219T>A, XM_011515078.2:c.219T>A, XM_011515078.1:c.219T>A, XM_017011668.2:c.147T>A, XM_017011668.1:c.147T>A, XM_047419726.1:c.147T>A, XM_047419729.1:c.147T>A, XM_047419734.1:c.147T>A, XM_047419736.1:c.147T>A, XM_047419745.1:c.147T>A, XM_047419747.1:c.147T>A, XM_047419735.1:c.147T>A, XM_047419724.1:c.147T>A, XM_047419744.1:c.147T>A, XM_047419723.1:c.219T>A, XM_047419725.1:c.147T>A, XM_047419728.1:c.147T>A, XM_047419727.1:c.219T>A, XM_047419730.1:c.147T>A, XM_047419732.1:c.147T>A, XM_047419731.1:c.219T>A, XM_047419733.1:c.147T>A, XM_047419738.1:c.147T>A, XM_047419748.1:c.147T>A, NM_001220766.1:c.147T>A, XM_047419739.1:c.219T>A, XM_047419740.1:c.147T>A, XM_047419749.1:c.177T>A, XM_047419746.1:c.147T>A, NM_001220769.1:c.147T>A, XM_047419750.1:c.147T>A, NM_018563.1:c.57T>A, NP_006051.1:p.Ser49Arg, NP_001207694.1:p.Ser49Arg, NP_001278766.1:p.Ser49Arg, NP_001278767.1:p.Ser49Arg, NP_001207697.1:p.Ser49Arg, NP_001207696.1:p.Ser49Arg, NP_001278768.1:p.Ser49Arg, NP_001207699.1:p.Ser49Arg, NP_001207700.1:p.Ser49Arg, NP_001278774.1:p.Ser49Arg, NP_001278776.1:p.Ser49Arg, NP_001278775.1:p.Ser49Arg, NP_001278770.1:p.Ser49Arg, NP_001278771.1:p.Ser49Arg, NP_001278772.1:p.Ser49Arg, NP_001278773.1:p.Ser49Arg, NP_001278769.1:p.Ser49Arg, XP_011513366.1:p.Ser49Arg, XP_011513361.1:p.Ser73Arg, XP_011513363.1:p.Ser73Arg, XP_011513369.1:p.Ser73Arg, XP_011513368.1:p.Ser49Arg, XP_011513365.1:p.Ser49Arg, XP_011513364.1:p.Ser49Arg, XP_011513362.1:p.Ser59Arg, XP_011513360.1:p.Ser73Arg, XP_011513367.1:p.Ser49Arg, XP_011513375.1:p.Ser49Arg, XP_011513372.1:p.Ser73Arg, XP_011513373.1:p.Ser73Arg, XP_011513374.1:p.Ser73Arg, XP_011513376.1:p.Ser73Arg, XP_011513379.1:p.Ser73Arg, XP_011513380.1:p.Ser73Arg, XP_016867157.1:p.Ser49Arg, XP_047275682.1:p.Ser49Arg, XP_047275685.1:p.Ser49Arg, XP_047275690.1:p.Ser49Arg, XP_047275692.1:p.Ser49Arg, XP_047275701.1:p.Ser49Arg, XP_047275703.1:p.Ser49Arg, XP_047275691.1:p.Ser49Arg, XP_047275680.1:p.Ser49Arg, XP_047275700.1:p.Ser49Arg, XP_047275679.1:p.Ser73Arg, XP_047275681.1:p.Ser49Arg, XP_047275684.1:p.Ser49Arg, XP_047275683.1:p.Ser73Arg, XP_047275686.1:p.Ser49Arg, XP_047275688.1:p.Ser49Arg, XP_047275687.1:p.Ser73Arg, XP_047275689.1:p.Ser49Arg, XP_047275694.1:p.Ser49Arg, XP_047275704.1:p.Ser49Arg, XP_047275695.1:p.Ser73Arg, XP_047275696.1:p.Ser49Arg, XP_047275705.1:p.Ser59Arg, XP_047275702.1:p.Ser49Arg, XP_047275706.1:p.Ser49Arg

                            14.

                            rs1482998608 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              7:50402808 (GRCh38)
                              7:50470506 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:50402807:A:C,NC_000007.14:50402807:A:G
                              Gene:
                              IKZF1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:
                              NC_000007.14:g.50402808A>C, NC_000007.14:g.50402808A>G, NC_000007.13:g.50470506A>C, NC_000007.13:g.50470506A>G, NG_034231.1:g.103726A>C, NG_034231.1:g.103726A>G, NM_006060.6:c.*2181A>C, NM_006060.6:c.*2181A>G, NM_006060.5:c.*2181A>C, NM_006060.5:c.*2181A>G, NM_006060.4:c.*2181A>C, NM_006060.4:c.*2181A>G, NM_001220765.3:c.*2181A>C, NM_001220765.3:c.*2181A>G, NM_001220765.2:c.*2181A>C, NM_001220765.2:c.*2181A>G, NM_001220765.1:c.*2181A>C, NM_001220765.1:c.*2181A>G, NM_001291837.2:c.*2181A>C, NM_001291837.2:c.*2181A>G, NM_001291837.1:c.*2181A>C, NM_001291837.1:c.*2181A>G, NM_001291838.2:c.*2181A>C, NM_001291838.2:c.*2181A>G, NM_001291838.1:c.*2181A>C, NM_001291838.1:c.*2181A>G, NM_001220768.2:c.*2181A>C, NM_001220768.2:c.*2181A>G, NM_001220768.1:c.*2181A>C, NM_001220768.1:c.*2181A>G, NM_001220767.2:c.*2181A>C, NM_001220767.2:c.*2181A>G, NM_001220767.1:c.*2181A>C, NM_001220767.1:c.*2181A>G, NM_001291839.2:c.*2181A>C, NM_001291839.2:c.*2181A>G, NM_001291839.1:c.*2181A>C, NM_001291839.1:c.*2181A>G, NM_001220770.2:c.*2181A>C, NM_001220770.2:c.*2181A>G, NM_001220770.1:c.*2181A>C, NM_001220770.1:c.*2181A>G, NM_001220771.2:c.*2181A>C, NM_001220771.2:c.*2181A>G, NM_001220771.1:c.*2181A>C, NM_001220771.1:c.*2181A>G, NM_001410879.1:c.*2181A>C, NM_001410879.1:c.*2181A>G, NM_001291841.1:c.*2181A>C, NM_001291841.1:c.*2181A>G, NM_001291842.1:c.*2181A>C, NM_001291842.1:c.*2181A>G, NM_001291843.1:c.*2181A>C, NM_001291843.1:c.*2181A>G, NM_001291844.1:c.*2181A>C, NM_001291844.1:c.*2181A>G, NM_001291840.1:c.*2181A>C, NM_001291840.1:c.*2181A>G, XM_011515064.4:c.*2181A>C, XM_011515064.4:c.*2181A>G, XM_011515064.3:c.*2181A>C, XM_011515064.3:c.*2181A>G, XM_011515064.2:c.*2181A>C, XM_011515064.2:c.*2181A>G, XM_011515064.1:c.*2181A>C, XM_011515064.1:c.*2181A>G, XM_011515059.4:c.*2181A>C, XM_011515059.4:c.*2181A>G, XM_011515059.3:c.*2181A>C, XM_011515059.3:c.*2181A>G, XM_011515059.2:c.*2181A>C, XM_011515059.2:c.*2181A>G, XM_011515059.1:c.*2181A>C, XM_011515059.1:c.*2181A>G, XM_011515061.4:c.*2181A>C, XM_011515061.4:c.*2181A>G, XM_011515061.3:c.*2181A>C, XM_011515061.3:c.*2181A>G, XM_011515061.2:c.*2181A>C, XM_011515061.2:c.*2181A>G, XM_011515061.1:c.*2181A>C, XM_011515061.1:c.*2181A>G, XM_011515067.4:c.*2181A>C, XM_011515067.4:c.*2181A>G, XM_011515067.3:c.*2181A>C, XM_011515067.3:c.*2181A>G, XM_011515067.2:c.*2181A>C, XM_011515067.2:c.*2181A>G, XM_011515067.1:c.*2181A>C, XM_011515067.1:c.*2181A>G, XM_011515066.3:c.*2181A>C, XM_011515066.3:c.*2181A>G, XM_011515063.3:c.*2181A>C, XM_011515063.3:c.*2181A>G, XM_011515063.2:c.*2181A>C, XM_011515063.2:c.*2181A>G, XM_011515063.1:c.*2181A>C, XM_011515063.1:c.*2181A>G, XM_011515062.3:c.*2181A>C, XM_011515062.3:c.*2181A>G, XM_011515062.2:c.*2181A>C, XM_011515062.2:c.*2181A>G, XM_011515062.1:c.*2181A>C, XM_011515062.1:c.*2181A>G, XM_011515060.3:c.*2181A>C, XM_011515060.3:c.*2181A>G, XM_011515060.2:c.*2181A>C, XM_011515060.2:c.*2181A>G, XM_011515060.1:c.*2181A>C, XM_011515060.1:c.*2181A>G, XM_011515058.3:c.*2181A>C, XM_011515058.3:c.*2181A>G, XM_011515058.2:c.*2181A>C, XM_011515058.2:c.*2181A>G, XM_011515058.1:c.*2181A>C, XM_011515058.1:c.*2181A>G, XM_011515065.3:c.*2181A>C, XM_011515065.3:c.*2181A>G, XM_011515065.2:c.*2181A>C, XM_011515065.2:c.*2181A>G, XM_011515065.1:c.*2181A>C, XM_011515065.1:c.*2181A>G, XM_011515073.3:c.*2181A>C, XM_011515073.3:c.*2181A>G, XM_011515073.2:c.*2181A>C, XM_011515073.2:c.*2181A>G, XM_011515073.1:c.*2181A>C, XM_011515073.1:c.*2181A>G, XM_011515070.3:c.*2181A>C, XM_011515070.3:c.*2181A>G, XM_011515070.2:c.*2181A>C, XM_011515070.2:c.*2181A>G, XM_011515070.1:c.*2181A>C, XM_011515070.1:c.*2181A>G, XM_011515071.3:c.*2181A>C, XM_011515071.3:c.*2181A>G, XM_011515071.2:c.*2181A>C, XM_011515071.2:c.*2181A>G, XM_011515071.1:c.*2181A>C, XM_011515071.1:c.*2181A>G, XM_011515072.3:c.*2181A>C, XM_011515072.3:c.*2181A>G, XM_011515072.2:c.*2181A>C, XM_011515072.2:c.*2181A>G, XM_011515072.1:c.*2181A>C, XM_011515072.1:c.*2181A>G, XM_011515074.3:c.*2181A>C, XM_011515074.3:c.*2181A>G, XM_011515074.2:c.*2181A>C, XM_011515074.2:c.*2181A>G, XM_011515074.1:c.*2181A>C, XM_011515074.1:c.*2181A>G, XM_011515077.3:c.*2181A>C, XM_011515077.3:c.*2181A>G, XM_011515077.2:c.*2181A>C, XM_011515077.2:c.*2181A>G, XM_011515077.1:c.*2181A>C, XM_011515077.1:c.*2181A>G, XM_011515078.3:c.*2181A>C, XM_011515078.3:c.*2181A>G, XM_011515078.2:c.*2181A>C, XM_011515078.2:c.*2181A>G, XM_011515078.1:c.*2181A>C, XM_011515078.1:c.*2181A>G, XM_017011668.2:c.*2181A>C, XM_017011668.2:c.*2181A>G, XM_017011668.1:c.*2181A>C, XM_017011668.1:c.*2181A>G, XM_047419741.1:c.*2181A>C, XM_047419741.1:c.*2181A>G, XM_047419742.1:c.*2181A>C, XM_047419742.1:c.*2181A>G, XM_047419726.1:c.*2181A>C, XM_047419726.1:c.*2181A>G, XM_047419729.1:c.*2181A>C, XM_047419729.1:c.*2181A>G, XM_047419734.1:c.*2181A>C, XM_047419734.1:c.*2181A>G, XM_047419736.1:c.*2181A>C, XM_047419736.1:c.*2181A>G, XM_047419745.1:c.*2181A>C, XM_047419745.1:c.*2181A>G, XM_047419747.1:c.*2181A>C, XM_047419747.1:c.*2181A>G, XM_047419735.1:c.*2181A>C, XM_047419735.1:c.*2181A>G, XM_047419743.1:c.*2181A>C, XM_047419743.1:c.*2181A>G, XM_047419724.1:c.*2181A>C, XM_047419724.1:c.*2181A>G, XM_047419744.1:c.*2181A>C, XM_047419744.1:c.*2181A>G, XM_047419723.1:c.*2181A>C, XM_047419723.1:c.*2181A>G, XM_047419725.1:c.*2181A>C, XM_047419725.1:c.*2181A>G, XM_047419728.1:c.*2181A>C, XM_047419728.1:c.*2181A>G, XM_047419727.1:c.*2181A>C, XM_047419727.1:c.*2181A>G, XM_047419730.1:c.*2181A>C, XM_047419730.1:c.*2181A>G, XM_047419732.1:c.*2181A>C, XM_047419732.1:c.*2181A>G, XM_047419731.1:c.*2181A>C, XM_047419731.1:c.*2181A>G, XM_047419733.1:c.*2181A>C, XM_047419733.1:c.*2181A>G, XM_047419738.1:c.*2181A>C, XM_047419738.1:c.*2181A>G, XM_047419748.1:c.*2181A>C, XM_047419748.1:c.*2181A>G, NM_001220766.1:c.*2181A>C, NM_001220766.1:c.*2181A>G, XM_047419739.1:c.*2181A>C, XM_047419739.1:c.*2181A>G, XM_047419740.1:c.*2181A>C, XM_047419740.1:c.*2181A>G, XM_047419749.1:c.*2181A>C, XM_047419749.1:c.*2181A>G, XM_047419746.1:c.*2181A>C, XM_047419746.1:c.*2181A>G, NM_001220769.1:c.*2181A>C, NM_001220769.1:c.*2181A>G, XM_047419750.1:c.*2181A>C, XM_047419750.1:c.*2181A>G, NM_001220773.1:c.*2181A>C, NM_001220773.1:c.*2181A>G, NM_001220774.1:c.*2181A>C, NM_001220774.1:c.*2181A>G, NM_001220775.1:c.*2181A>C, NM_001220775.1:c.*2181A>G, NM_001220776.1:c.*2181A>C, NM_001220776.1:c.*2181A>G, NM_001220772.1:c.*2181A>C, NM_001220772.1:c.*2181A>G

                              15.

                              rs1482082853 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TT>- [Show Flanks]
                                Chromosome:
                                7:50401433 (GRCh38)
                                7:50469131 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:50401432:TT:
                                Gene:
                                IKZF1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000007.14:g.50401433_50401434del, NC_000007.13:g.50469131_50469132del, NG_034231.1:g.102351_102352del, NM_006060.6:c.*806_*807del, NM_006060.5:c.*806_*807del, NM_006060.4:c.*806_*807del, NM_001220765.3:c.*806_*807del, NM_001220765.2:c.*806_*807del, NM_001220765.1:c.*806_*807del, NM_001291837.2:c.*806_*807del, NM_001291837.1:c.*806_*807del, NM_001291838.2:c.*806_*807del, NM_001291838.1:c.*806_*807del, NM_001220768.2:c.*806_*807del, NM_001220768.1:c.*806_*807del, NM_001220767.2:c.*806_*807del, NM_001220767.1:c.*806_*807del, NM_001291839.2:c.*806_*807del, NM_001291839.1:c.*806_*807del, NM_001220770.2:c.*806_*807del, NM_001220770.1:c.*806_*807del, NM_001220771.2:c.*806_*807del, NM_001220771.1:c.*806_*807del, NM_001410879.1:c.*806_*807del, NM_001291841.1:c.*806_*807del, NM_001291842.1:c.*806_*807del, NM_001291843.1:c.*806_*807del, NM_001291844.1:c.*806_*807del, NM_001291840.1:c.*806_*807del, XM_011515064.4:c.*806_*807del, XM_011515064.3:c.*806_*807del, XM_011515064.2:c.*806_*807del, XM_011515064.1:c.*806_*807del, XM_011515059.4:c.*806_*807del, XM_011515059.3:c.*806_*807del, XM_011515059.2:c.*806_*807del, XM_011515059.1:c.*806_*807del, XM_011515061.4:c.*806_*807del, XM_011515061.3:c.*806_*807del, XM_011515061.2:c.*806_*807del, XM_011515061.1:c.*806_*807del, XM_011515067.4:c.*806_*807del, XM_011515067.3:c.*806_*807del, XM_011515067.2:c.*806_*807del, XM_011515067.1:c.*806_*807del, XM_011515066.3:c.*806_*807del, XM_011515063.3:c.*806_*807del, XM_011515063.2:c.*806_*807del, XM_011515063.1:c.*806_*807del, XM_011515062.3:c.*806_*807del, XM_011515062.2:c.*806_*807del, XM_011515062.1:c.*806_*807del, XM_011515060.3:c.*806_*807del, XM_011515060.2:c.*806_*807del, XM_011515060.1:c.*806_*807del, XM_011515058.3:c.*806_*807del, XM_011515058.2:c.*806_*807del, XM_011515058.1:c.*806_*807del, XM_011515065.3:c.*806_*807del, XM_011515065.2:c.*806_*807del, XM_011515065.1:c.*806_*807del, XM_011515073.3:c.*806_*807del, XM_011515073.2:c.*806_*807del, XM_011515073.1:c.*806_*807del, XM_011515070.3:c.*806_*807del, XM_011515070.2:c.*806_*807del, XM_011515070.1:c.*806_*807del, XM_011515071.3:c.*806_*807del, XM_011515071.2:c.*806_*807del, XM_011515071.1:c.*806_*807del, XM_011515072.3:c.*806_*807del, XM_011515072.2:c.*806_*807del, XM_011515072.1:c.*806_*807del, XM_011515074.3:c.*806_*807del, XM_011515074.2:c.*806_*807del, XM_011515074.1:c.*806_*807del, XM_011515077.3:c.*806_*807del, XM_011515077.2:c.*806_*807del, XM_011515077.1:c.*806_*807del, XM_011515078.3:c.*806_*807del, XM_011515078.2:c.*806_*807del, XM_011515078.1:c.*806_*807del, XM_017011668.2:c.*806_*807del, XM_017011668.1:c.*806_*807del, XM_047419741.1:c.*806_*807del, XM_047419742.1:c.*806_*807del, XM_047419726.1:c.*806_*807del, XM_047419729.1:c.*806_*807del, XM_047419734.1:c.*806_*807del, XM_047419736.1:c.*806_*807del, XM_047419745.1:c.*806_*807del, XM_047419747.1:c.*806_*807del, XM_047419735.1:c.*806_*807del, XM_047419743.1:c.*806_*807del, XM_047419724.1:c.*806_*807del, XM_047419744.1:c.*806_*807del, XM_047419723.1:c.*806_*807del, XM_047419725.1:c.*806_*807del, XM_047419728.1:c.*806_*807del, XM_047419727.1:c.*806_*807del, XM_047419730.1:c.*806_*807del, XM_047419732.1:c.*806_*807del, XM_047419731.1:c.*806_*807del, XM_047419733.1:c.*806_*807del, XM_047419738.1:c.*806_*807del, XM_047419748.1:c.*806_*807del, NM_001220766.1:c.*806_*807del, XM_047419739.1:c.*806_*807del, XM_047419740.1:c.*806_*807del, XM_047419749.1:c.*806_*807del, XM_047419746.1:c.*806_*807del, NM_001220769.1:c.*806_*807del, XM_047419750.1:c.*806_*807del, NM_001220773.1:c.*806_*807del, NM_001220774.1:c.*806_*807del, NM_001220775.1:c.*806_*807del, NM_001220776.1:c.*806_*807del, NM_001220772.1:c.*806_*807del

                                16.

                                rs1482040013 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  7:50402007 (GRCh38)
                                  7:50469705 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:50402006:G:A
                                  Gene:
                                  IKZF1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000142/2 (TOMMO)
                                  HGVS:
                                  NC_000007.14:g.50402007G>A, NC_000007.13:g.50469705G>A, NG_034231.1:g.102925G>A, NM_006060.6:c.*1380G>A, NM_006060.5:c.*1380G>A, NM_006060.4:c.*1380G>A, NM_001220765.3:c.*1380G>A, NM_001220765.2:c.*1380G>A, NM_001220765.1:c.*1380G>A, NM_001291837.2:c.*1380G>A, NM_001291837.1:c.*1380G>A, NM_001291838.2:c.*1380G>A, NM_001291838.1:c.*1380G>A, NM_001220768.2:c.*1380G>A, NM_001220768.1:c.*1380G>A, NM_001220767.2:c.*1380G>A, NM_001220767.1:c.*1380G>A, NM_001291839.2:c.*1380G>A, NM_001291839.1:c.*1380G>A, NM_001220770.2:c.*1380G>A, NM_001220770.1:c.*1380G>A, NM_001220771.2:c.*1380G>A, NM_001220771.1:c.*1380G>A, NM_001410879.1:c.*1380G>A, NM_001291841.1:c.*1380G>A, NM_001291842.1:c.*1380G>A, NM_001291843.1:c.*1380G>A, NM_001291844.1:c.*1380G>A, NM_001291840.1:c.*1380G>A, XM_011515064.4:c.*1380G>A, XM_011515064.3:c.*1380G>A, XM_011515064.2:c.*1380G>A, XM_011515064.1:c.*1380G>A, XM_011515059.4:c.*1380G>A, XM_011515059.3:c.*1380G>A, XM_011515059.2:c.*1380G>A, XM_011515059.1:c.*1380G>A, XM_011515061.4:c.*1380G>A, XM_011515061.3:c.*1380G>A, XM_011515061.2:c.*1380G>A, XM_011515061.1:c.*1380G>A, XM_011515067.4:c.*1380G>A, XM_011515067.3:c.*1380G>A, XM_011515067.2:c.*1380G>A, XM_011515067.1:c.*1380G>A, XM_011515066.3:c.*1380G>A, XM_011515063.3:c.*1380G>A, XM_011515063.2:c.*1380G>A, XM_011515063.1:c.*1380G>A, XM_011515062.3:c.*1380G>A, XM_011515062.2:c.*1380G>A, XM_011515062.1:c.*1380G>A, XM_011515060.3:c.*1380G>A, XM_011515060.2:c.*1380G>A, XM_011515060.1:c.*1380G>A, XM_011515058.3:c.*1380G>A, XM_011515058.2:c.*1380G>A, XM_011515058.1:c.*1380G>A, XM_011515065.3:c.*1380G>A, XM_011515065.2:c.*1380G>A, XM_011515065.1:c.*1380G>A, XM_011515073.3:c.*1380G>A, XM_011515073.2:c.*1380G>A, XM_011515073.1:c.*1380G>A, XM_011515070.3:c.*1380G>A, XM_011515070.2:c.*1380G>A, XM_011515070.1:c.*1380G>A, XM_011515071.3:c.*1380G>A, XM_011515071.2:c.*1380G>A, XM_011515071.1:c.*1380G>A, XM_011515072.3:c.*1380G>A, XM_011515072.2:c.*1380G>A, XM_011515072.1:c.*1380G>A, XM_011515074.3:c.*1380G>A, XM_011515074.2:c.*1380G>A, XM_011515074.1:c.*1380G>A, XM_011515077.3:c.*1380G>A, XM_011515077.2:c.*1380G>A, XM_011515077.1:c.*1380G>A, XM_011515078.3:c.*1380G>A, XM_011515078.2:c.*1380G>A, XM_011515078.1:c.*1380G>A, XM_017011668.2:c.*1380G>A, XM_017011668.1:c.*1380G>A, XM_047419741.1:c.*1380G>A, XM_047419742.1:c.*1380G>A, XM_047419726.1:c.*1380G>A, XM_047419729.1:c.*1380G>A, XM_047419734.1:c.*1380G>A, XM_047419736.1:c.*1380G>A, XM_047419745.1:c.*1380G>A, XM_047419747.1:c.*1380G>A, XM_047419735.1:c.*1380G>A, XM_047419743.1:c.*1380G>A, XM_047419724.1:c.*1380G>A, XM_047419744.1:c.*1380G>A, XM_047419723.1:c.*1380G>A, XM_047419725.1:c.*1380G>A, XM_047419728.1:c.*1380G>A, XM_047419727.1:c.*1380G>A, XM_047419730.1:c.*1380G>A, XM_047419732.1:c.*1380G>A, XM_047419731.1:c.*1380G>A, XM_047419733.1:c.*1380G>A, XM_047419738.1:c.*1380G>A, XM_047419748.1:c.*1380G>A, NM_001220766.1:c.*1380G>A, XM_047419739.1:c.*1380G>A, XM_047419740.1:c.*1380G>A, XM_047419749.1:c.*1380G>A, XM_047419746.1:c.*1380G>A, NM_001220769.1:c.*1380G>A, XM_047419750.1:c.*1380G>A, NM_001220773.1:c.*1380G>A, NM_001220774.1:c.*1380G>A, NM_001220775.1:c.*1380G>A, NM_001220776.1:c.*1380G>A, NM_001220772.1:c.*1380G>A

                                  17.

                                  rs1482011693 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    7:50327694 (GRCh38)
                                    7:50367290 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:50327693:A:T
                                    Gene:
                                    IKZF1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000007.14:g.50327694A>T, NC_000007.13:g.50367290A>T, NG_034231.1:g.28612A>T, NM_006060.6:c.97A>T, NM_006060.5:c.97A>T, NM_006060.4:c.97A>T, NM_001220765.3:c.97A>T, NM_001220765.2:c.97A>T, NM_001220765.1:c.97A>T, NM_001291837.2:c.97A>T, NM_001291837.1:c.97A>T, NM_001291838.2:c.97A>T, NM_001291838.1:c.97A>T, NM_001220768.2:c.97A>T, NM_001220768.1:c.97A>T, NM_001220767.2:c.97A>T, NM_001220767.1:c.97A>T, NM_001291839.2:c.97A>T, NM_001291839.1:c.97A>T, NM_001220770.2:c.97A>T, NM_001220770.1:c.97A>T, NM_001220771.2:c.97A>T, NM_001220771.1:c.97A>T, NM_001291845.2:c.97A>T, NM_001291845.1:c.97A>T, NM_001291847.2:c.97A>T, NM_001291847.1:c.97A>T, NM_001291846.2:c.97A>T, NM_001291846.1:c.97A>T, NM_001410879.1:c.97A>T, NM_001291841.1:c.97A>T, NM_001291842.1:c.97A>T, NM_001291843.1:c.97A>T, NM_001291844.1:c.97A>T, NM_001291840.1:c.97A>T, XM_011515064.4:c.97A>T, XM_011515064.3:c.97A>T, XM_011515064.2:c.97A>T, XM_011515064.1:c.97A>T, XM_011515059.4:c.169A>T, XM_011515059.3:c.169A>T, XM_011515059.2:c.169A>T, XM_011515059.1:c.169A>T, XM_011515061.4:c.169A>T, XM_011515061.3:c.169A>T, XM_011515061.2:c.169A>T, XM_011515061.1:c.169A>T, XM_011515067.4:c.169A>T, XM_011515067.3:c.169A>T, XM_011515067.2:c.169A>T, XM_011515067.1:c.169A>T, XM_011515066.3:c.97A>T, XM_011515063.3:c.97A>T, XM_011515063.2:c.97A>T, XM_011515063.1:c.97A>T, XM_011515062.3:c.97A>T, XM_011515062.2:c.97A>T, XM_011515062.1:c.97A>T, XM_011515060.3:c.127A>T, XM_011515060.2:c.127A>T, XM_011515060.1:c.127A>T, XM_011515058.3:c.169A>T, XM_011515058.2:c.169A>T, XM_011515058.1:c.169A>T, XM_011515065.3:c.97A>T, XM_011515065.2:c.97A>T, XM_011515065.1:c.97A>T, XM_011515073.3:c.97A>T, XM_011515073.2:c.97A>T, XM_011515073.1:c.97A>T, XM_011515070.3:c.169A>T, XM_011515070.2:c.169A>T, XM_011515070.1:c.169A>T, XM_011515071.3:c.169A>T, XM_011515071.2:c.169A>T, XM_011515071.1:c.169A>T, XM_011515072.3:c.169A>T, XM_011515072.2:c.169A>T, XM_011515072.1:c.169A>T, XM_011515074.3:c.169A>T, XM_011515074.2:c.169A>T, XM_011515074.1:c.169A>T, XM_011515077.3:c.169A>T, XM_011515077.2:c.169A>T, XM_011515077.1:c.169A>T, XM_011515078.3:c.169A>T, XM_011515078.2:c.169A>T, XM_011515078.1:c.169A>T, XM_017011668.2:c.97A>T, XM_017011668.1:c.97A>T, XM_047419726.1:c.97A>T, XM_047419729.1:c.97A>T, XM_047419734.1:c.97A>T, XM_047419736.1:c.97A>T, XM_047419745.1:c.97A>T, XM_047419747.1:c.97A>T, XM_047419735.1:c.97A>T, XM_047419724.1:c.97A>T, XM_047419744.1:c.97A>T, XM_047419723.1:c.169A>T, XM_047419725.1:c.97A>T, XM_047419728.1:c.97A>T, XM_047419727.1:c.169A>T, XM_047419730.1:c.97A>T, XM_047419732.1:c.97A>T, XM_047419731.1:c.169A>T, XM_047419733.1:c.97A>T, XM_047419738.1:c.97A>T, XM_047419748.1:c.97A>T, NM_001220766.1:c.97A>T, XM_047419739.1:c.169A>T, XM_047419740.1:c.97A>T, XM_047419749.1:c.127A>T, XM_047419746.1:c.97A>T, NM_001220769.1:c.97A>T, XM_047419750.1:c.97A>T, NM_018563.1:c.7A>T, NP_006051.1:p.Ile33Phe, NP_001207694.1:p.Ile33Phe, NP_001278766.1:p.Ile33Phe, NP_001278767.1:p.Ile33Phe, NP_001207697.1:p.Ile33Phe, NP_001207696.1:p.Ile33Phe, NP_001278768.1:p.Ile33Phe, NP_001207699.1:p.Ile33Phe, NP_001207700.1:p.Ile33Phe, NP_001278774.1:p.Ile33Phe, NP_001278776.1:p.Ile33Phe, NP_001278775.1:p.Ile33Phe, NP_001278770.1:p.Ile33Phe, NP_001278771.1:p.Ile33Phe, NP_001278772.1:p.Ile33Phe, NP_001278773.1:p.Ile33Phe, NP_001278769.1:p.Ile33Phe, XP_011513366.1:p.Ile33Phe, XP_011513361.1:p.Ile57Phe, XP_011513363.1:p.Ile57Phe, XP_011513369.1:p.Ile57Phe, XP_011513368.1:p.Ile33Phe, XP_011513365.1:p.Ile33Phe, XP_011513364.1:p.Ile33Phe, XP_011513362.1:p.Ile43Phe, XP_011513360.1:p.Ile57Phe, XP_011513367.1:p.Ile33Phe, XP_011513375.1:p.Ile33Phe, XP_011513372.1:p.Ile57Phe, XP_011513373.1:p.Ile57Phe, XP_011513374.1:p.Ile57Phe, XP_011513376.1:p.Ile57Phe, XP_011513379.1:p.Ile57Phe, XP_011513380.1:p.Ile57Phe, XP_016867157.1:p.Ile33Phe, XP_047275682.1:p.Ile33Phe, XP_047275685.1:p.Ile33Phe, XP_047275690.1:p.Ile33Phe, XP_047275692.1:p.Ile33Phe, XP_047275701.1:p.Ile33Phe, XP_047275703.1:p.Ile33Phe, XP_047275691.1:p.Ile33Phe, XP_047275680.1:p.Ile33Phe, XP_047275700.1:p.Ile33Phe, XP_047275679.1:p.Ile57Phe, XP_047275681.1:p.Ile33Phe, XP_047275684.1:p.Ile33Phe, XP_047275683.1:p.Ile57Phe, XP_047275686.1:p.Ile33Phe, XP_047275688.1:p.Ile33Phe, XP_047275687.1:p.Ile57Phe, XP_047275689.1:p.Ile33Phe, XP_047275694.1:p.Ile33Phe, XP_047275704.1:p.Ile33Phe, XP_047275695.1:p.Ile57Phe, XP_047275696.1:p.Ile33Phe, XP_047275705.1:p.Ile43Phe, XP_047275702.1:p.Ile33Phe, XP_047275706.1:p.Ile33Phe

                                    18.

                                    rs1482008747 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:50402983 (GRCh38)
                                      7:50470681 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:50402982:C:T
                                      Gene:
                                      IKZF1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.00003/8 (TOPMED)
                                      HGVS:
                                      NC_000007.14:g.50402983C>T, NC_000007.13:g.50470681C>T, NG_034231.1:g.103901C>T, NM_006060.6:c.*2356C>T, NM_006060.5:c.*2356C>T, NM_006060.4:c.*2356C>T, NM_001220765.3:c.*2356C>T, NM_001220765.2:c.*2356C>T, NM_001220765.1:c.*2356C>T, NM_001291837.2:c.*2356C>T, NM_001291837.1:c.*2356C>T, NM_001291838.2:c.*2356C>T, NM_001291838.1:c.*2356C>T, NM_001220768.2:c.*2356C>T, NM_001220768.1:c.*2356C>T, NM_001220767.2:c.*2356C>T, NM_001220767.1:c.*2356C>T, NM_001291839.2:c.*2356C>T, NM_001291839.1:c.*2356C>T, NM_001220770.2:c.*2356C>T, NM_001220770.1:c.*2356C>T, NM_001220771.2:c.*2356C>T, NM_001220771.1:c.*2356C>T, NM_001410879.1:c.*2356C>T, NM_001291841.1:c.*2356C>T, NM_001291842.1:c.*2356C>T, NM_001291843.1:c.*2356C>T, NM_001291844.1:c.*2356C>T, NM_001291840.1:c.*2356C>T, XM_011515064.4:c.*2356C>T, XM_011515064.3:c.*2356C>T, XM_011515064.2:c.*2356C>T, XM_011515064.1:c.*2356C>T, XM_011515059.4:c.*2356C>T, XM_011515059.3:c.*2356C>T, XM_011515059.2:c.*2356C>T, XM_011515059.1:c.*2356C>T, XM_011515061.4:c.*2356C>T, XM_011515061.3:c.*2356C>T, XM_011515061.2:c.*2356C>T, XM_011515061.1:c.*2356C>T, XM_011515067.4:c.*2356C>T, XM_011515067.3:c.*2356C>T, XM_011515067.2:c.*2356C>T, XM_011515067.1:c.*2356C>T, XM_011515066.3:c.*2356C>T, XM_011515063.3:c.*2356C>T, XM_011515063.2:c.*2356C>T, XM_011515063.1:c.*2356C>T, XM_011515062.3:c.*2356C>T, XM_011515062.2:c.*2356C>T, XM_011515062.1:c.*2356C>T, XM_011515060.3:c.*2356C>T, XM_011515060.2:c.*2356C>T, XM_011515060.1:c.*2356C>T, XM_011515058.3:c.*2356C>T, XM_011515058.2:c.*2356C>T, XM_011515058.1:c.*2356C>T, XM_011515065.3:c.*2356C>T, XM_011515065.2:c.*2356C>T, XM_011515065.1:c.*2356C>T, XM_011515073.3:c.*2356C>T, XM_011515073.2:c.*2356C>T, XM_011515073.1:c.*2356C>T, XM_011515070.3:c.*2356C>T, XM_011515070.2:c.*2356C>T, XM_011515070.1:c.*2356C>T, XM_011515071.3:c.*2356C>T, XM_011515071.2:c.*2356C>T, XM_011515071.1:c.*2356C>T, XM_011515072.3:c.*2356C>T, XM_011515072.2:c.*2356C>T, XM_011515072.1:c.*2356C>T, XM_011515074.3:c.*2356C>T, XM_011515074.2:c.*2356C>T, XM_011515074.1:c.*2356C>T, XM_011515077.3:c.*2356C>T, XM_011515077.2:c.*2356C>T, XM_011515077.1:c.*2356C>T, XM_011515078.3:c.*2356C>T, XM_011515078.2:c.*2356C>T, XM_011515078.1:c.*2356C>T, XM_017011668.2:c.*2356C>T, XM_017011668.1:c.*2356C>T, XM_047419741.1:c.*2356C>T, XM_047419742.1:c.*2356C>T, XM_047419726.1:c.*2356C>T, XM_047419729.1:c.*2356C>T, XM_047419734.1:c.*2356C>T, XM_047419736.1:c.*2356C>T, XM_047419745.1:c.*2356C>T, XM_047419747.1:c.*2356C>T, XM_047419735.1:c.*2356C>T, XM_047419743.1:c.*2356C>T, XM_047419724.1:c.*2356C>T, XM_047419744.1:c.*2356C>T, XM_047419723.1:c.*2356C>T, XM_047419725.1:c.*2356C>T, XM_047419728.1:c.*2356C>T, XM_047419727.1:c.*2356C>T, XM_047419730.1:c.*2356C>T, XM_047419732.1:c.*2356C>T, XM_047419731.1:c.*2356C>T, XM_047419733.1:c.*2356C>T, XM_047419738.1:c.*2356C>T, XM_047419748.1:c.*2356C>T, NM_001220766.1:c.*2356C>T, XM_047419739.1:c.*2356C>T, XM_047419740.1:c.*2356C>T, XM_047419749.1:c.*2356C>T, XM_047419746.1:c.*2356C>T, NM_001220769.1:c.*2356C>T, XM_047419750.1:c.*2356C>T, NM_001220773.1:c.*2356C>T, NM_001220774.1:c.*2356C>T, NM_001220775.1:c.*2356C>T, NM_001220776.1:c.*2356C>T, NM_001220772.1:c.*2356C>T

                                      19.

                                      rs1481034786 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:50401898 (GRCh38)
                                        7:50469596 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:50401897:G:A
                                        Gene:
                                        IKZF1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000007.14:g.50401898G>A, NC_000007.13:g.50469596G>A, NG_034231.1:g.102816G>A, NM_006060.6:c.*1271G>A, NM_006060.5:c.*1271G>A, NM_006060.4:c.*1271G>A, NM_001220765.3:c.*1271G>A, NM_001220765.2:c.*1271G>A, NM_001220765.1:c.*1271G>A, NM_001291837.2:c.*1271G>A, NM_001291837.1:c.*1271G>A, NM_001291838.2:c.*1271G>A, NM_001291838.1:c.*1271G>A, NM_001220768.2:c.*1271G>A, NM_001220768.1:c.*1271G>A, NM_001220767.2:c.*1271G>A, NM_001220767.1:c.*1271G>A, NM_001291839.2:c.*1271G>A, NM_001291839.1:c.*1271G>A, NM_001220770.2:c.*1271G>A, NM_001220770.1:c.*1271G>A, NM_001220771.2:c.*1271G>A, NM_001220771.1:c.*1271G>A, NM_001410879.1:c.*1271G>A, NM_001291841.1:c.*1271G>A, NM_001291842.1:c.*1271G>A, NM_001291843.1:c.*1271G>A, NM_001291844.1:c.*1271G>A, NM_001291840.1:c.*1271G>A, XM_011515064.4:c.*1271G>A, XM_011515064.3:c.*1271G>A, XM_011515064.2:c.*1271G>A, XM_011515064.1:c.*1271G>A, XM_011515059.4:c.*1271G>A, XM_011515059.3:c.*1271G>A, XM_011515059.2:c.*1271G>A, XM_011515059.1:c.*1271G>A, XM_011515061.4:c.*1271G>A, XM_011515061.3:c.*1271G>A, XM_011515061.2:c.*1271G>A, XM_011515061.1:c.*1271G>A, XM_011515067.4:c.*1271G>A, XM_011515067.3:c.*1271G>A, XM_011515067.2:c.*1271G>A, XM_011515067.1:c.*1271G>A, XM_011515066.3:c.*1271G>A, XM_011515063.3:c.*1271G>A, XM_011515063.2:c.*1271G>A, XM_011515063.1:c.*1271G>A, XM_011515062.3:c.*1271G>A, XM_011515062.2:c.*1271G>A, XM_011515062.1:c.*1271G>A, XM_011515060.3:c.*1271G>A, XM_011515060.2:c.*1271G>A, XM_011515060.1:c.*1271G>A, XM_011515058.3:c.*1271G>A, XM_011515058.2:c.*1271G>A, XM_011515058.1:c.*1271G>A, XM_011515065.3:c.*1271G>A, XM_011515065.2:c.*1271G>A, XM_011515065.1:c.*1271G>A, XM_011515073.3:c.*1271G>A, XM_011515073.2:c.*1271G>A, XM_011515073.1:c.*1271G>A, XM_011515070.3:c.*1271G>A, XM_011515070.2:c.*1271G>A, XM_011515070.1:c.*1271G>A, XM_011515071.3:c.*1271G>A, XM_011515071.2:c.*1271G>A, XM_011515071.1:c.*1271G>A, XM_011515072.3:c.*1271G>A, XM_011515072.2:c.*1271G>A, XM_011515072.1:c.*1271G>A, XM_011515074.3:c.*1271G>A, XM_011515074.2:c.*1271G>A, XM_011515074.1:c.*1271G>A, XM_011515077.3:c.*1271G>A, XM_011515077.2:c.*1271G>A, XM_011515077.1:c.*1271G>A, XM_011515078.3:c.*1271G>A, XM_011515078.2:c.*1271G>A, XM_011515078.1:c.*1271G>A, XM_017011668.2:c.*1271G>A, XM_017011668.1:c.*1271G>A, XM_047419741.1:c.*1271G>A, XM_047419742.1:c.*1271G>A, XM_047419726.1:c.*1271G>A, XM_047419729.1:c.*1271G>A, XM_047419734.1:c.*1271G>A, XM_047419736.1:c.*1271G>A, XM_047419745.1:c.*1271G>A, XM_047419747.1:c.*1271G>A, XM_047419735.1:c.*1271G>A, XM_047419743.1:c.*1271G>A, XM_047419724.1:c.*1271G>A, XM_047419744.1:c.*1271G>A, XM_047419723.1:c.*1271G>A, XM_047419725.1:c.*1271G>A, XM_047419728.1:c.*1271G>A, XM_047419727.1:c.*1271G>A, XM_047419730.1:c.*1271G>A, XM_047419732.1:c.*1271G>A, XM_047419731.1:c.*1271G>A, XM_047419733.1:c.*1271G>A, XM_047419738.1:c.*1271G>A, XM_047419748.1:c.*1271G>A, NM_001220766.1:c.*1271G>A, XM_047419739.1:c.*1271G>A, XM_047419740.1:c.*1271G>A, XM_047419749.1:c.*1271G>A, XM_047419746.1:c.*1271G>A, NM_001220769.1:c.*1271G>A, XM_047419750.1:c.*1271G>A, NM_001220773.1:c.*1271G>A, NM_001220774.1:c.*1271G>A, NM_001220775.1:c.*1271G>A, NM_001220776.1:c.*1271G>A, NM_001220772.1:c.*1271G>A

                                        20.

                                        rs1480517732 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          7:50401664 (GRCh38)
                                          7:50469362 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:50401663:C:T
                                          Gene:
                                          IKZF1 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000007.14:g.50401664C>T, NC_000007.13:g.50469362C>T, NG_034231.1:g.102582C>T, NM_006060.6:c.*1037C>T, NM_006060.5:c.*1037C>T, NM_006060.4:c.*1037C>T, NM_001220765.3:c.*1037C>T, NM_001220765.2:c.*1037C>T, NM_001220765.1:c.*1037C>T, NM_001291837.2:c.*1037C>T, NM_001291837.1:c.*1037C>T, NM_001291838.2:c.*1037C>T, NM_001291838.1:c.*1037C>T, NM_001220768.2:c.*1037C>T, NM_001220768.1:c.*1037C>T, NM_001220767.2:c.*1037C>T, NM_001220767.1:c.*1037C>T, NM_001291839.2:c.*1037C>T, NM_001291839.1:c.*1037C>T, NM_001220770.2:c.*1037C>T, NM_001220770.1:c.*1037C>T, NM_001220771.2:c.*1037C>T, NM_001220771.1:c.*1037C>T, NM_001410879.1:c.*1037C>T, NM_001291841.1:c.*1037C>T, NM_001291842.1:c.*1037C>T, NM_001291843.1:c.*1037C>T, NM_001291844.1:c.*1037C>T, NM_001291840.1:c.*1037C>T, XM_011515064.4:c.*1037C>T, XM_011515064.3:c.*1037C>T, XM_011515064.2:c.*1037C>T, XM_011515064.1:c.*1037C>T, XM_011515059.4:c.*1037C>T, XM_011515059.3:c.*1037C>T, XM_011515059.2:c.*1037C>T, XM_011515059.1:c.*1037C>T, XM_011515061.4:c.*1037C>T, XM_011515061.3:c.*1037C>T, XM_011515061.2:c.*1037C>T, XM_011515061.1:c.*1037C>T, XM_011515067.4:c.*1037C>T, XM_011515067.3:c.*1037C>T, XM_011515067.2:c.*1037C>T, XM_011515067.1:c.*1037C>T, XM_011515066.3:c.*1037C>T, XM_011515063.3:c.*1037C>T, XM_011515063.2:c.*1037C>T, XM_011515063.1:c.*1037C>T, XM_011515062.3:c.*1037C>T, XM_011515062.2:c.*1037C>T, XM_011515062.1:c.*1037C>T, XM_011515060.3:c.*1037C>T, XM_011515060.2:c.*1037C>T, XM_011515060.1:c.*1037C>T, XM_011515058.3:c.*1037C>T, XM_011515058.2:c.*1037C>T, XM_011515058.1:c.*1037C>T, XM_011515065.3:c.*1037C>T, XM_011515065.2:c.*1037C>T, XM_011515065.1:c.*1037C>T, XM_011515073.3:c.*1037C>T, XM_011515073.2:c.*1037C>T, XM_011515073.1:c.*1037C>T, XM_011515070.3:c.*1037C>T, XM_011515070.2:c.*1037C>T, XM_011515070.1:c.*1037C>T, XM_011515071.3:c.*1037C>T, XM_011515071.2:c.*1037C>T, XM_011515071.1:c.*1037C>T, XM_011515072.3:c.*1037C>T, XM_011515072.2:c.*1037C>T, XM_011515072.1:c.*1037C>T, XM_011515074.3:c.*1037C>T, XM_011515074.2:c.*1037C>T, XM_011515074.1:c.*1037C>T, XM_011515077.3:c.*1037C>T, XM_011515077.2:c.*1037C>T, XM_011515077.1:c.*1037C>T, XM_011515078.3:c.*1037C>T, XM_011515078.2:c.*1037C>T, XM_011515078.1:c.*1037C>T, XM_017011668.2:c.*1037C>T, XM_017011668.1:c.*1037C>T, XM_047419741.1:c.*1037C>T, XM_047419742.1:c.*1037C>T, XM_047419726.1:c.*1037C>T, XM_047419729.1:c.*1037C>T, XM_047419734.1:c.*1037C>T, XM_047419736.1:c.*1037C>T, XM_047419745.1:c.*1037C>T, XM_047419747.1:c.*1037C>T, XM_047419735.1:c.*1037C>T, XM_047419743.1:c.*1037C>T, XM_047419724.1:c.*1037C>T, XM_047419744.1:c.*1037C>T, XM_047419723.1:c.*1037C>T, XM_047419725.1:c.*1037C>T, XM_047419728.1:c.*1037C>T, XM_047419727.1:c.*1037C>T, XM_047419730.1:c.*1037C>T, XM_047419732.1:c.*1037C>T, XM_047419731.1:c.*1037C>T, XM_047419733.1:c.*1037C>T, XM_047419738.1:c.*1037C>T, XM_047419748.1:c.*1037C>T, NM_001220766.1:c.*1037C>T, XM_047419739.1:c.*1037C>T, XM_047419740.1:c.*1037C>T, XM_047419749.1:c.*1037C>T, XM_047419746.1:c.*1037C>T, NM_001220769.1:c.*1037C>T, XM_047419750.1:c.*1037C>T, NM_001220773.1:c.*1037C>T, NM_001220774.1:c.*1037C>T, NM_001220775.1:c.*1037C>T, NM_001220776.1:c.*1037C>T, NM_001220772.1:c.*1037C>T

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