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Items: 1 to 20 of 561

1.

rs1490996759 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    16:71860386 (GRCh38)
    16:71894289 (GRCh37)
    Canonical SPDI:
    NC_000016.10:71860385:C:A,NC_000016.10:71860385:C:T
    Gene:
    ZNF821 (Varview)
    Functional Consequence:
    coding_sequence_variant,3_prime_UTR_variant,missense_variant,stop_gained
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000012/3 (GnomAD_exomes)
    A=0.000156/1 (1000Genomes)
    HGVS:
    NC_000016.10:g.71860386C>A, NC_000016.10:g.71860386C>T, NC_000016.9:g.71894289C>A, NC_000016.9:g.71894289C>T, XM_011523211.4:c.871G>T, XM_011523211.4:c.871G>A, XM_011523211.3:c.871G>T, XM_011523211.3:c.871G>A, XM_011523211.2:c.871G>T, XM_011523211.2:c.871G>A, XM_011523211.1:c.871G>T, XM_011523211.1:c.871G>A, XM_011523212.4:c.871G>T, XM_011523212.4:c.871G>A, XM_011523212.3:c.871G>T, XM_011523212.3:c.871G>A, XM_011523212.2:c.871G>T, XM_011523212.2:c.871G>A, XM_011523212.1:c.871G>T, XM_011523212.1:c.871G>A, XM_011523214.3:c.421G>T, XM_011523214.3:c.421G>A, XM_011523214.2:c.421G>T, XM_011523214.2:c.421G>A, XM_011523214.1:c.421G>T, XM_011523214.1:c.421G>A, NM_001201552.2:c.871G>T, NM_001201552.2:c.871G>A, NM_001201552.1:c.871G>T, NM_001201552.1:c.871G>A, NM_001318238.2:c.421G>T, NM_001318238.2:c.421G>A, NM_001318238.1:c.421G>T, NM_001318238.1:c.421G>A, NM_017530.2:c.745G>T, NM_017530.2:c.745G>A, NM_001318239.2:c.421G>T, NM_001318239.2:c.421G>A, NM_001318239.1:c.421G>T, NM_001318239.1:c.421G>A, XM_017023422.2:c.421G>T, XM_017023422.2:c.421G>A, XM_017023422.1:c.421G>T, XM_017023422.1:c.421G>A, XM_047434342.1:c.871G>T, XM_047434342.1:c.871G>A, NM_001376298.1:c.871G>T, NM_001376298.1:c.871G>A, NM_001201553.1:c.871G>T, NM_001201553.1:c.871G>A, NM_001201554.1:c.745G>T, NM_001201554.1:c.745G>A, NM_001201556.1:c.*284G>T, NM_001201556.1:c.*284G>A, NM_001376299.1:c.871G>T, NM_001376299.1:c.871G>A, NM_001376297.1:c.871G>T, NM_001376297.1:c.871G>A, XM_047434343.1:c.421G>T, XM_047434343.1:c.421G>A, NM_001376300.1:c.745G>T, NM_001376300.1:c.745G>A, XM_047434344.1:c.421G>T, XM_047434344.1:c.421G>A, XM_047434346.1:c.421G>T, XM_047434346.1:c.421G>A, XM_047434347.1:c.421G>T, XM_047434347.1:c.421G>A, XM_047434345.1:c.421G>T, XM_047434345.1:c.421G>A, XP_011521513.1:p.Glu291Ter, XP_011521513.1:p.Glu291Lys, XP_011521514.1:p.Glu291Ter, XP_011521514.1:p.Glu291Lys, XP_011521516.1:p.Glu141Ter, XP_011521516.1:p.Glu141Lys, NP_001188481.1:p.Glu291Ter, NP_001188481.1:p.Glu291Lys, NP_001305167.1:p.Glu141Ter, NP_001305167.1:p.Glu141Lys, NP_060000.1:p.Glu249Ter, NP_060000.1:p.Glu249Lys, NP_001305168.1:p.Glu141Ter, NP_001305168.1:p.Glu141Lys, XP_016878911.1:p.Glu141Ter, XP_016878911.1:p.Glu141Lys, XP_047290298.1:p.Glu291Ter, XP_047290298.1:p.Glu291Lys, NP_001363227.1:p.Glu291Ter, NP_001363227.1:p.Glu291Lys, NP_001188482.1:p.Glu291Ter, NP_001188482.1:p.Glu291Lys, NP_001188483.1:p.Glu249Ter, NP_001188483.1:p.Glu249Lys, NP_001363228.1:p.Glu291Ter, NP_001363228.1:p.Glu291Lys, NP_001363226.1:p.Glu291Ter, NP_001363226.1:p.Glu291Lys, XP_047290299.1:p.Glu141Ter, XP_047290299.1:p.Glu141Lys, NP_001363229.1:p.Glu249Ter, NP_001363229.1:p.Glu249Lys, XP_047290300.1:p.Glu141Ter, XP_047290300.1:p.Glu141Lys, XP_047290302.1:p.Glu141Ter, XP_047290302.1:p.Glu141Lys, XP_047290303.1:p.Glu141Ter, XP_047290303.1:p.Glu141Lys, XP_047290301.1:p.Glu141Ter, XP_047290301.1:p.Glu141Lys
    2.

    rs1490333673 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:71883352 (GRCh38)
      16:71917255 (GRCh37)
      Canonical SPDI:
      NC_000016.10:71883351:G:A
      Gene:
      ZNF821 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489668936 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        16:71864197 (GRCh38)
        16:71898100 (GRCh37)
        Canonical SPDI:
        NC_000016.10:71864196:A:G,NC_000016.10:71864196:A:T
        Gene:
        ZNF821 (Varview)
        Functional Consequence:
        coding_sequence_variant,5_prime_UTR_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000102/2 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000008/2 (TOPMED)
        HGVS:
        NC_000016.10:g.71864197A>G, NC_000016.10:g.71864197A>T, NC_000016.9:g.71898100A>G, NC_000016.9:g.71898100A>T, XM_011523211.4:c.358T>C, XM_011523211.4:c.358T>A, XM_011523211.3:c.358T>C, XM_011523211.3:c.358T>A, XM_011523211.2:c.358T>C, XM_011523211.2:c.358T>A, XM_011523211.1:c.358T>C, XM_011523211.1:c.358T>A, XM_011523212.4:c.358T>C, XM_011523212.4:c.358T>A, XM_011523212.3:c.358T>C, XM_011523212.3:c.358T>A, XM_011523212.2:c.358T>C, XM_011523212.2:c.358T>A, XM_011523212.1:c.358T>C, XM_011523212.1:c.358T>A, XM_011523214.3:c.-93T>C, XM_011523214.3:c.-93T>A, XM_011523214.2:c.-93T>C, XM_011523214.2:c.-93T>A, XM_011523214.1:c.-93T>C, XM_011523214.1:c.-93T>A, NM_001201552.2:c.358T>C, NM_001201552.2:c.358T>A, NM_001201552.1:c.358T>C, NM_001201552.1:c.358T>A, NM_001318238.2:c.-93T>C, NM_001318238.2:c.-93T>A, NM_001318238.1:c.-93T>C, NM_001318238.1:c.-93T>A, NM_017530.2:c.232T>C, NM_017530.2:c.232T>A, NM_001318239.2:c.-93T>C, NM_001318239.2:c.-93T>A, NM_001318239.1:c.-93T>C, NM_001318239.1:c.-93T>A, XM_017023422.2:c.-93T>C, XM_017023422.2:c.-93T>A, XM_017023422.1:c.-93T>C, XM_017023422.1:c.-93T>A, XM_047434342.1:c.358T>C, XM_047434342.1:c.358T>A, NM_001376298.1:c.358T>C, NM_001376298.1:c.358T>A, NM_001201553.1:c.358T>C, NM_001201553.1:c.358T>A, NM_001201554.1:c.232T>C, NM_001201554.1:c.232T>A, NM_001201556.1:c.358T>C, NM_001201556.1:c.358T>A, NM_001376299.1:c.358T>C, NM_001376299.1:c.358T>A, NM_001376297.1:c.358T>C, NM_001376297.1:c.358T>A, XM_047434343.1:c.-93T>C, XM_047434343.1:c.-93T>A, NM_001376300.1:c.232T>C, NM_001376300.1:c.232T>A, XM_047434344.1:c.-93T>C, XM_047434344.1:c.-93T>A, XM_047434346.1:c.-93T>C, XM_047434346.1:c.-93T>A, XM_047434347.1:c.-93T>C, XM_047434347.1:c.-93T>A, XM_047434345.1:c.-93T>C, XM_047434345.1:c.-93T>A, XP_011521513.1:p.Cys120Arg, XP_011521513.1:p.Cys120Ser, XP_011521514.1:p.Cys120Arg, XP_011521514.1:p.Cys120Ser, NP_001188481.1:p.Cys120Arg, NP_001188481.1:p.Cys120Ser, NP_060000.1:p.Cys78Arg, NP_060000.1:p.Cys78Ser, XP_047290298.1:p.Cys120Arg, XP_047290298.1:p.Cys120Ser, NP_001363227.1:p.Cys120Arg, NP_001363227.1:p.Cys120Ser, NP_001188482.1:p.Cys120Arg, NP_001188482.1:p.Cys120Ser, NP_001188483.1:p.Cys78Arg, NP_001188483.1:p.Cys78Ser, NP_001188485.1:p.Cys120Arg, NP_001188485.1:p.Cys120Ser, NP_001363228.1:p.Cys120Arg, NP_001363228.1:p.Cys120Ser, NP_001363226.1:p.Cys120Arg, NP_001363226.1:p.Cys120Ser, NP_001363229.1:p.Cys78Arg, NP_001363229.1:p.Cys78Ser
        4.

        rs1489231291 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:71883363 (GRCh38)
          16:71917266 (GRCh37)
          Canonical SPDI:
          NC_000016.10:71883362:C:T
          Gene:
          ZNF821 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          T=0.000014/2 (GnomAD)
          HGVS:
          6.

          rs1486402238 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            16:71860442 (GRCh38)
            16:71894345 (GRCh37)
            Canonical SPDI:
            NC_000016.10:71860441:T:C
            Gene:
            ZNF821 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000016.10:g.71860442T>C, NC_000016.9:g.71894345T>C, XM_011523211.4:c.815A>G, XM_011523211.3:c.815A>G, XM_011523211.2:c.815A>G, XM_011523211.1:c.815A>G, XM_011523212.4:c.815A>G, XM_011523212.3:c.815A>G, XM_011523212.2:c.815A>G, XM_011523212.1:c.815A>G, XM_011523214.3:c.365A>G, XM_011523214.2:c.365A>G, XM_011523214.1:c.365A>G, NM_001201552.2:c.815A>G, NM_001201552.1:c.815A>G, NM_001318238.2:c.365A>G, NM_001318238.1:c.365A>G, NM_017530.2:c.689A>G, NM_001318239.2:c.365A>G, NM_001318239.1:c.365A>G, XM_017023422.2:c.365A>G, XM_017023422.1:c.365A>G, XM_047434342.1:c.815A>G, NM_001376298.1:c.815A>G, NM_001201553.1:c.815A>G, NM_001201554.1:c.689A>G, NM_001201556.1:c.*228A>G, NM_001376299.1:c.815A>G, NM_001376297.1:c.815A>G, XM_047434343.1:c.365A>G, NM_001376300.1:c.689A>G, XM_047434344.1:c.365A>G, XM_047434346.1:c.365A>G, XM_047434347.1:c.365A>G, XM_047434345.1:c.365A>G, XP_011521513.1:p.Gln272Arg, XP_011521514.1:p.Gln272Arg, XP_011521516.1:p.Gln122Arg, NP_001188481.1:p.Gln272Arg, NP_001305167.1:p.Gln122Arg, NP_060000.1:p.Gln230Arg, NP_001305168.1:p.Gln122Arg, XP_016878911.1:p.Gln122Arg, XP_047290298.1:p.Gln272Arg, NP_001363227.1:p.Gln272Arg, NP_001188482.1:p.Gln272Arg, NP_001188483.1:p.Gln230Arg, NP_001363228.1:p.Gln272Arg, NP_001363226.1:p.Gln272Arg, XP_047290299.1:p.Gln122Arg, NP_001363229.1:p.Gln230Arg, XP_047290300.1:p.Gln122Arg, XP_047290302.1:p.Gln122Arg, XP_047290303.1:p.Gln122Arg, XP_047290301.1:p.Gln122Arg
            8.

            rs1482757827 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              16:71860284 (GRCh38)
              16:71894187 (GRCh37)
              Canonical SPDI:
              NC_000016.10:71860283:C:A
              Gene:
              ZNF821 (Varview)
              Functional Consequence:
              coding_sequence_variant,stop_gained,3_prime_UTR_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000016.10:g.71860284C>A, NC_000016.9:g.71894187C>A, XM_011523211.4:c.973G>T, XM_011523211.3:c.973G>T, XM_011523211.2:c.973G>T, XM_011523211.1:c.973G>T, XM_011523212.4:c.973G>T, XM_011523212.3:c.973G>T, XM_011523212.2:c.973G>T, XM_011523212.1:c.973G>T, XM_011523214.3:c.523G>T, XM_011523214.2:c.523G>T, XM_011523214.1:c.523G>T, NM_001201552.2:c.973G>T, NM_001201552.1:c.973G>T, NM_001318238.2:c.523G>T, NM_001318238.1:c.523G>T, NM_017530.2:c.847G>T, NM_001318239.2:c.523G>T, NM_001318239.1:c.523G>T, XM_017023422.2:c.523G>T, XM_017023422.1:c.523G>T, XM_047434342.1:c.973G>T, NM_001376298.1:c.973G>T, NM_001201553.1:c.973G>T, NM_001201554.1:c.847G>T, NM_001201556.1:c.*386G>T, NM_001376299.1:c.973G>T, NM_001376297.1:c.973G>T, XM_047434343.1:c.523G>T, NM_001376300.1:c.847G>T, XM_047434344.1:c.523G>T, XM_047434346.1:c.523G>T, XM_047434347.1:c.523G>T, XM_047434345.1:c.523G>T, XP_011521513.1:p.Glu325Ter, XP_011521514.1:p.Glu325Ter, XP_011521516.1:p.Glu175Ter, NP_001188481.1:p.Glu325Ter, NP_001305167.1:p.Glu175Ter, NP_060000.1:p.Glu283Ter, NP_001305168.1:p.Glu175Ter, XP_016878911.1:p.Glu175Ter, XP_047290298.1:p.Glu325Ter, NP_001363227.1:p.Glu325Ter, NP_001188482.1:p.Glu325Ter, NP_001188483.1:p.Glu283Ter, NP_001363228.1:p.Glu325Ter, NP_001363226.1:p.Glu325Ter, XP_047290299.1:p.Glu175Ter, NP_001363229.1:p.Glu283Ter, XP_047290300.1:p.Glu175Ter, XP_047290302.1:p.Glu175Ter, XP_047290303.1:p.Glu175Ter, XP_047290301.1:p.Glu175Ter
              9.

              rs1482331740 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                16:71860302 (GRCh38)
                16:71894205 (GRCh37)
                Canonical SPDI:
                NC_000016.10:71860301:G:A,NC_000016.10:71860301:G:C
                Gene:
                ZNF821 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000016.10:g.71860302G>A, NC_000016.10:g.71860302G>C, NC_000016.9:g.71894205G>A, NC_000016.9:g.71894205G>C, XM_011523211.4:c.955C>T, XM_011523211.4:c.955C>G, XM_011523211.3:c.955C>T, XM_011523211.3:c.955C>G, XM_011523211.2:c.955C>T, XM_011523211.2:c.955C>G, XM_011523211.1:c.955C>T, XM_011523211.1:c.955C>G, XM_011523212.4:c.955C>T, XM_011523212.4:c.955C>G, XM_011523212.3:c.955C>T, XM_011523212.3:c.955C>G, XM_011523212.2:c.955C>T, XM_011523212.2:c.955C>G, XM_011523212.1:c.955C>T, XM_011523212.1:c.955C>G, XM_011523214.3:c.505C>T, XM_011523214.3:c.505C>G, XM_011523214.2:c.505C>T, XM_011523214.2:c.505C>G, XM_011523214.1:c.505C>T, XM_011523214.1:c.505C>G, NM_001201552.2:c.955C>T, NM_001201552.2:c.955C>G, NM_001201552.1:c.955C>T, NM_001201552.1:c.955C>G, NM_001318238.2:c.505C>T, NM_001318238.2:c.505C>G, NM_001318238.1:c.505C>T, NM_001318238.1:c.505C>G, NM_017530.2:c.829C>T, NM_017530.2:c.829C>G, NM_001318239.2:c.505C>T, NM_001318239.2:c.505C>G, NM_001318239.1:c.505C>T, NM_001318239.1:c.505C>G, XM_017023422.2:c.505C>T, XM_017023422.2:c.505C>G, XM_017023422.1:c.505C>T, XM_017023422.1:c.505C>G, XM_047434342.1:c.955C>T, XM_047434342.1:c.955C>G, NM_001376298.1:c.955C>T, NM_001376298.1:c.955C>G, NM_001201553.1:c.955C>T, NM_001201553.1:c.955C>G, NM_001201554.1:c.829C>T, NM_001201554.1:c.829C>G, NM_001201556.1:c.*368C>T, NM_001201556.1:c.*368C>G, NM_001376299.1:c.955C>T, NM_001376299.1:c.955C>G, NM_001376297.1:c.955C>T, NM_001376297.1:c.955C>G, XM_047434343.1:c.505C>T, XM_047434343.1:c.505C>G, NM_001376300.1:c.829C>T, NM_001376300.1:c.829C>G, XM_047434344.1:c.505C>T, XM_047434344.1:c.505C>G, XM_047434346.1:c.505C>T, XM_047434346.1:c.505C>G, XM_047434347.1:c.505C>T, XM_047434347.1:c.505C>G, XM_047434345.1:c.505C>T, XM_047434345.1:c.505C>G, XP_011521513.1:p.Arg319Trp, XP_011521513.1:p.Arg319Gly, XP_011521514.1:p.Arg319Trp, XP_011521514.1:p.Arg319Gly, XP_011521516.1:p.Arg169Trp, XP_011521516.1:p.Arg169Gly, NP_001188481.1:p.Arg319Trp, NP_001188481.1:p.Arg319Gly, NP_001305167.1:p.Arg169Trp, NP_001305167.1:p.Arg169Gly, NP_060000.1:p.Arg277Trp, NP_060000.1:p.Arg277Gly, NP_001305168.1:p.Arg169Trp, NP_001305168.1:p.Arg169Gly, XP_016878911.1:p.Arg169Trp, XP_016878911.1:p.Arg169Gly, XP_047290298.1:p.Arg319Trp, XP_047290298.1:p.Arg319Gly, NP_001363227.1:p.Arg319Trp, NP_001363227.1:p.Arg319Gly, NP_001188482.1:p.Arg319Trp, NP_001188482.1:p.Arg319Gly, NP_001188483.1:p.Arg277Trp, NP_001188483.1:p.Arg277Gly, NP_001363228.1:p.Arg319Trp, NP_001363228.1:p.Arg319Gly, NP_001363226.1:p.Arg319Trp, NP_001363226.1:p.Arg319Gly, XP_047290299.1:p.Arg169Trp, XP_047290299.1:p.Arg169Gly, NP_001363229.1:p.Arg277Trp, NP_001363229.1:p.Arg277Gly, XP_047290300.1:p.Arg169Trp, XP_047290300.1:p.Arg169Gly, XP_047290302.1:p.Arg169Trp, XP_047290302.1:p.Arg169Gly, XP_047290303.1:p.Arg169Trp, XP_047290303.1:p.Arg169Gly, XP_047290301.1:p.Arg169Trp, XP_047290301.1:p.Arg169Gly
                12.

                rs1477957240 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  16:71860358 (GRCh38)
                  16:71894261 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:71860357:T:C
                  Gene:
                  ZNF821 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000016.10:g.71860358T>C, NC_000016.9:g.71894261T>C, XM_011523211.4:c.899A>G, XM_011523211.3:c.899A>G, XM_011523211.2:c.899A>G, XM_011523211.1:c.899A>G, XM_011523212.4:c.899A>G, XM_011523212.3:c.899A>G, XM_011523212.2:c.899A>G, XM_011523212.1:c.899A>G, XM_011523214.3:c.449A>G, XM_011523214.2:c.449A>G, XM_011523214.1:c.449A>G, NM_001201552.2:c.899A>G, NM_001201552.1:c.899A>G, NM_001318238.2:c.449A>G, NM_001318238.1:c.449A>G, NM_017530.2:c.773A>G, NM_001318239.2:c.449A>G, NM_001318239.1:c.449A>G, XM_017023422.2:c.449A>G, XM_017023422.1:c.449A>G, XM_047434342.1:c.899A>G, NM_001376298.1:c.899A>G, NM_001201553.1:c.899A>G, NM_001201554.1:c.773A>G, NM_001201556.1:c.*312A>G, NM_001376299.1:c.899A>G, NM_001376297.1:c.899A>G, XM_047434343.1:c.449A>G, NM_001376300.1:c.773A>G, XM_047434344.1:c.449A>G, XM_047434346.1:c.449A>G, XM_047434347.1:c.449A>G, XM_047434345.1:c.449A>G, XP_011521513.1:p.Asp300Gly, XP_011521514.1:p.Asp300Gly, XP_011521516.1:p.Asp150Gly, NP_001188481.1:p.Asp300Gly, NP_001305167.1:p.Asp150Gly, NP_060000.1:p.Asp258Gly, NP_001305168.1:p.Asp150Gly, XP_016878911.1:p.Asp150Gly, XP_047290298.1:p.Asp300Gly, NP_001363227.1:p.Asp300Gly, NP_001188482.1:p.Asp300Gly, NP_001188483.1:p.Asp258Gly, NP_001363228.1:p.Asp300Gly, NP_001363226.1:p.Asp300Gly, XP_047290299.1:p.Asp150Gly, NP_001363229.1:p.Asp258Gly, XP_047290300.1:p.Asp150Gly, XP_047290302.1:p.Asp150Gly, XP_047290303.1:p.Asp150Gly, XP_047290301.1:p.Asp150Gly
                  14.

                  rs1476865826 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    16:71883335 (GRCh38)
                    16:71917238 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:71883334:C:A
                    Gene:
                    ZNF821 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000014/2 (GnomAD)
                    A=0.000015/4 (TOPMED)
                    C=0.5/1 (SGDP_PRJ)
                    HGVS:
                    15.

                    rs1476161964 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      16:71860025 (GRCh38)
                      16:71893928 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:71860024:A:G
                      Gene:
                      ZNF821 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,3_prime_UTR_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000016.10:g.71860025A>G, NC_000016.9:g.71893928A>G, XM_011523211.4:c.1232T>C, XM_011523211.3:c.1232T>C, XM_011523211.2:c.1232T>C, XM_011523211.1:c.1232T>C, XM_011523212.4:c.1232T>C, XM_011523212.3:c.1232T>C, XM_011523212.2:c.1232T>C, XM_011523212.1:c.1232T>C, XM_011523214.3:c.782T>C, XM_011523214.2:c.782T>C, XM_011523214.1:c.782T>C, NM_001201552.2:c.1232T>C, NM_001201552.1:c.1232T>C, NM_001318238.2:c.782T>C, NM_001318238.1:c.782T>C, NM_017530.2:c.1106T>C, NM_001318239.2:c.782T>C, NM_001318239.1:c.782T>C, XM_017023422.2:c.782T>C, XM_017023422.1:c.782T>C, XM_047434342.1:c.1232T>C, NM_001376298.1:c.1232T>C, NM_001201553.1:c.1232T>C, NM_001201554.1:c.1106T>C, NM_001201556.1:c.*645T>C, NM_001376299.1:c.1232T>C, NM_001376297.1:c.1232T>C, XM_047434343.1:c.782T>C, NM_001376300.1:c.1106T>C, XM_047434344.1:c.782T>C, XM_047434346.1:c.782T>C, XM_047434347.1:c.782T>C, XM_047434345.1:c.782T>C, XP_011521513.1:p.Leu411Pro, XP_011521514.1:p.Leu411Pro, XP_011521516.1:p.Leu261Pro, NP_001188481.1:p.Leu411Pro, NP_001305167.1:p.Leu261Pro, NP_060000.1:p.Leu369Pro, NP_001305168.1:p.Leu261Pro, XP_016878911.1:p.Leu261Pro, XP_047290298.1:p.Leu411Pro, NP_001363227.1:p.Leu411Pro, NP_001188482.1:p.Leu411Pro, NP_001188483.1:p.Leu369Pro, NP_001363228.1:p.Leu411Pro, NP_001363226.1:p.Leu411Pro, XP_047290299.1:p.Leu261Pro, NP_001363229.1:p.Leu369Pro, XP_047290300.1:p.Leu261Pro, XP_047290302.1:p.Leu261Pro, XP_047290303.1:p.Leu261Pro, XP_047290301.1:p.Leu261Pro
                      17.

                      rs1472781998 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        16:71861878 (GRCh38)
                        16:71895781 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:71861877:G:A
                        Gene:
                        ZNF821 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000016.10:g.71861878G>A, NC_000016.9:g.71895781G>A, XM_011523211.4:c.482C>T, XM_011523211.3:c.482C>T, XM_011523211.2:c.482C>T, XM_011523211.1:c.482C>T, XM_011523212.4:c.482C>T, XM_011523212.3:c.482C>T, XM_011523212.2:c.482C>T, XM_011523212.1:c.482C>T, XM_011523214.3:c.32C>T, XM_011523214.2:c.32C>T, XM_011523214.1:c.32C>T, NM_001201552.2:c.482C>T, NM_001201552.1:c.482C>T, NM_001318238.2:c.32C>T, NM_001318238.1:c.32C>T, NM_017530.2:c.356C>T, NM_001318239.2:c.32C>T, NM_001318239.1:c.32C>T, XM_017023422.2:c.32C>T, XM_017023422.1:c.32C>T, XM_047434342.1:c.482C>T, NM_001376298.1:c.482C>T, NM_001201553.1:c.482C>T, NM_001201554.1:c.356C>T, NM_001376299.1:c.482C>T, NM_001376297.1:c.482C>T, XM_047434343.1:c.32C>T, NM_001376300.1:c.356C>T, XM_047434344.1:c.32C>T, XM_047434346.1:c.32C>T, XM_047434347.1:c.32C>T, XM_047434345.1:c.32C>T, XP_011521513.1:p.Ser161Phe, XP_011521514.1:p.Ser161Phe, XP_011521516.1:p.Ser11Phe, NP_001188481.1:p.Ser161Phe, NP_001305167.1:p.Ser11Phe, NP_060000.1:p.Ser119Phe, NP_001305168.1:p.Ser11Phe, XP_016878911.1:p.Ser11Phe, XP_047290298.1:p.Ser161Phe, NP_001363227.1:p.Ser161Phe, NP_001188482.1:p.Ser161Phe, NP_001188483.1:p.Ser119Phe, NP_001363228.1:p.Ser161Phe, NP_001363226.1:p.Ser161Phe, XP_047290299.1:p.Ser11Phe, NP_001363229.1:p.Ser119Phe, XP_047290300.1:p.Ser11Phe, XP_047290302.1:p.Ser11Phe, XP_047290303.1:p.Ser11Phe, XP_047290301.1:p.Ser11Phe
                        18.

                        rs1471925378 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:71860223 (GRCh38)
                          16:71894126 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:71860222:C:T
                          Gene:
                          ZNF821 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,3_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000016.10:g.71860223C>T, NC_000016.9:g.71894126C>T, XM_011523211.4:c.1034G>A, XM_011523211.3:c.1034G>A, XM_011523211.2:c.1034G>A, XM_011523211.1:c.1034G>A, XM_011523212.4:c.1034G>A, XM_011523212.3:c.1034G>A, XM_011523212.2:c.1034G>A, XM_011523212.1:c.1034G>A, XM_011523214.3:c.584G>A, XM_011523214.2:c.584G>A, XM_011523214.1:c.584G>A, NM_001201552.2:c.1034G>A, NM_001201552.1:c.1034G>A, NM_001318238.2:c.584G>A, NM_001318238.1:c.584G>A, NM_017530.2:c.908G>A, NM_001318239.2:c.584G>A, NM_001318239.1:c.584G>A, XM_017023422.2:c.584G>A, XM_017023422.1:c.584G>A, XM_047434342.1:c.1034G>A, NM_001376298.1:c.1034G>A, NM_001201553.1:c.1034G>A, NM_001201554.1:c.908G>A, NM_001201556.1:c.*447G>A, NM_001376299.1:c.1034G>A, NM_001376297.1:c.1034G>A, XM_047434343.1:c.584G>A, NM_001376300.1:c.908G>A, XM_047434344.1:c.584G>A, XM_047434346.1:c.584G>A, XM_047434347.1:c.584G>A, XM_047434345.1:c.584G>A, XP_011521513.1:p.Arg345Gln, XP_011521514.1:p.Arg345Gln, XP_011521516.1:p.Arg195Gln, NP_001188481.1:p.Arg345Gln, NP_001305167.1:p.Arg195Gln, NP_060000.1:p.Arg303Gln, NP_001305168.1:p.Arg195Gln, XP_016878911.1:p.Arg195Gln, XP_047290298.1:p.Arg345Gln, NP_001363227.1:p.Arg345Gln, NP_001188482.1:p.Arg345Gln, NP_001188483.1:p.Arg303Gln, NP_001363228.1:p.Arg345Gln, NP_001363226.1:p.Arg345Gln, XP_047290299.1:p.Arg195Gln, NP_001363229.1:p.Arg303Gln, XP_047290300.1:p.Arg195Gln, XP_047290302.1:p.Arg195Gln, XP_047290303.1:p.Arg195Gln, XP_047290301.1:p.Arg195Gln

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