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Items: 1 to 20 of 1150

1.

rs1490981286 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:52475025 (GRCh38)
    1:52940697 (GRCh37)
    Canonical SPDI:
    NC_000001.11:52475024:T:C
    Gene:
    TUT4 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000012/3 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.52475025T>C, NC_000001.10:g.52940697T>C, XM_005270680.4:c.2534A>G, XM_005270680.3:c.2534A>G, XM_005270680.2:c.2534A>G, XM_005270680.1:c.2534A>G, NM_001009881.3:c.2534A>G, NM_001009881.2:c.2534A>G, XM_005270678.3:c.2534A>G, XM_005270678.2:c.2534A>G, XM_005270678.1:c.2534A>G, XM_017000804.3:c.2453A>G, XM_017000804.2:c.2453A>G, XM_017000804.1:c.2453A>G, XM_005270676.3:c.2534A>G, XM_005270676.2:c.2534A>G, XM_005270676.1:c.2534A>G, XM_005270679.3:c.2534A>G, XM_005270679.2:c.2534A>G, XM_005270679.1:c.2534A>G, XM_017000805.3:c.2534A>G, XM_017000805.2:c.2534A>G, XM_017000805.1:c.2534A>G, XM_005270681.3:c.2534A>G, XM_005270681.2:c.2534A>G, XM_005270681.1:c.2534A>G, XM_017000807.3:c.2321A>G, XM_017000807.2:c.2321A>G, XM_017000807.1:c.2321A>G, XM_017000810.3:c.2201A>G, XM_017000810.2:c.2201A>G, XM_017000810.1:c.2201A>G, XM_005270682.3:c.2201A>G, XM_005270682.2:c.2201A>G, XM_005270682.1:c.2201A>G, NM_015269.2:c.2534A>G, XM_011541097.2:c.2534A>G, XM_011541097.1:c.2534A>G, XM_017000803.2:c.2453A>G, XM_017000803.1:c.2453A>G, XM_017000806.2:c.2321A>G, XM_017000806.1:c.2321A>G, XM_011541099.2:c.2240A>G, XM_011541099.1:c.2240A>G, XM_017000808.2:c.2201A>G, XM_017000808.1:c.2201A>G, XM_017000818.2:c.2201A>G, XM_017000818.1:c.2201A>G, XM_047416325.1:c.2534A>G, XM_047416326.1:c.2534A>G, XM_047416327.1:c.2534A>G, NM_001009882.1:c.2534A>G, XM_047416324.1:c.2534A>G, XM_047416332.1:c.2453A>G, XM_047416339.1:c.2534A>G, XM_047416340.1:c.2534A>G, XM_047416349.1:c.2534A>G, XM_047416351.1:c.2534A>G, XM_047416329.1:c.2453A>G, XM_047416330.1:c.2534A>G, XM_047416334.1:c.2534A>G, XM_047416364.1:c.2453A>G, XM_047416371.1:c.2453A>G, XM_047416347.1:c.2534A>G, XM_047416380.1:c.2453A>G, XM_047416381.1:c.2321A>G, XM_047416350.1:c.2534A>G, XM_047416355.1:c.2453A>G, XM_047416369.1:c.2321A>G, XM_047416394.1:c.2321A>G, XM_047416398.1:c.2321A>G, XM_047416406.1:c.2321A>G, XM_047416409.1:c.2201A>G, XM_047416411.1:c.2321A>G, XM_047416388.1:c.2321A>G, XM_047416389.1:c.2240A>G, XM_047416392.1:c.2321A>G, XM_047416416.1:c.2201A>G, XM_047416417.1:c.2201A>G, XM_047416421.1:c.2201A>G, XM_047416413.1:c.2240A>G, XM_047416428.1:c.314A>G, XP_005270737.1:p.Asp845Gly, NP_001009881.1:p.Asp845Gly, XP_005270735.1:p.Asp845Gly, XP_016856293.1:p.Asp818Gly, XP_005270733.1:p.Asp845Gly, XP_005270736.1:p.Asp845Gly, XP_016856294.1:p.Asp845Gly, XP_005270738.1:p.Asp845Gly, XP_016856296.1:p.Asp774Gly, XP_016856299.1:p.Asp734Gly, XP_005270739.1:p.Asp734Gly, NP_056084.1:p.Asp845Gly, XP_011539399.1:p.Asp845Gly, XP_016856292.1:p.Asp818Gly, XP_016856295.1:p.Asp774Gly, XP_011539401.1:p.Asp747Gly, XP_016856297.1:p.Asp734Gly, XP_016856307.1:p.Asp734Gly, XP_047272281.1:p.Asp845Gly, XP_047272282.1:p.Asp845Gly, XP_047272283.1:p.Asp845Gly, XP_047272280.1:p.Asp845Gly, XP_047272288.1:p.Asp818Gly, XP_047272295.1:p.Asp845Gly, XP_047272296.1:p.Asp845Gly, XP_047272305.1:p.Asp845Gly, XP_047272307.1:p.Asp845Gly, XP_047272285.1:p.Asp818Gly, XP_047272286.1:p.Asp845Gly, XP_047272290.1:p.Asp845Gly, XP_047272320.1:p.Asp818Gly, XP_047272327.1:p.Asp818Gly, XP_047272303.1:p.Asp845Gly, XP_047272336.1:p.Asp818Gly, XP_047272337.1:p.Asp774Gly, XP_047272306.1:p.Asp845Gly, XP_047272311.1:p.Asp818Gly, XP_047272325.1:p.Asp774Gly, XP_047272350.1:p.Asp774Gly, XP_047272354.1:p.Asp774Gly, XP_047272362.1:p.Asp774Gly, XP_047272365.1:p.Asp734Gly, XP_047272367.1:p.Asp774Gly, XP_047272344.1:p.Asp774Gly, XP_047272345.1:p.Asp747Gly, XP_047272348.1:p.Asp774Gly, XP_047272372.1:p.Asp734Gly, XP_047272373.1:p.Asp734Gly, XP_047272377.1:p.Asp734Gly, XP_047272369.1:p.Asp747Gly, XP_047272384.1:p.Asp105Gly

    2.

    rs1490162816 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:52472077 (GRCh38)
      1:52937749 (GRCh37)
      Canonical SPDI:
      NC_000001.11:52472076:C:T
      Gene:
      TUT4 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.52472077C>T, NC_000001.10:g.52937749C>T, XM_005270680.4:c.2753G>A, XM_005270680.3:c.2753G>A, XM_005270680.2:c.2753G>A, XM_005270680.1:c.2753G>A, NM_001009881.3:c.2753G>A, NM_001009881.2:c.2753G>A, XM_005270678.3:c.2753G>A, XM_005270678.2:c.2753G>A, XM_005270678.1:c.2753G>A, XM_017000804.3:c.2672G>A, XM_017000804.2:c.2672G>A, XM_017000804.1:c.2672G>A, XM_005270676.3:c.2753G>A, XM_005270676.2:c.2753G>A, XM_005270676.1:c.2753G>A, XM_005270679.3:c.2753G>A, XM_005270679.2:c.2753G>A, XM_005270679.1:c.2753G>A, XM_017000805.3:c.2753G>A, XM_017000805.2:c.2753G>A, XM_017000805.1:c.2753G>A, XM_005270681.3:c.2753G>A, XM_005270681.2:c.2753G>A, XM_005270681.1:c.2753G>A, XM_017000807.3:c.2540G>A, XM_017000807.2:c.2540G>A, XM_017000807.1:c.2540G>A, XM_017000810.3:c.2420G>A, XM_017000810.2:c.2420G>A, XM_017000810.1:c.2420G>A, XM_005270682.3:c.2420G>A, XM_005270682.2:c.2420G>A, XM_005270682.1:c.2420G>A, NM_015269.2:c.2753G>A, XM_011541097.2:c.2753G>A, XM_011541097.1:c.2753G>A, XM_017000803.2:c.2672G>A, XM_017000803.1:c.2672G>A, XM_017000806.2:c.2540G>A, XM_017000806.1:c.2540G>A, XM_011541099.2:c.2459G>A, XM_011541099.1:c.2459G>A, XM_017000808.2:c.2420G>A, XM_017000808.1:c.2420G>A, XM_017000818.2:c.2420G>A, XM_017000818.1:c.2420G>A, XM_047416325.1:c.2753G>A, XM_047416326.1:c.2753G>A, XM_047416327.1:c.2753G>A, NM_001009882.1:c.2753G>A, XM_047416324.1:c.2753G>A, XM_047416332.1:c.2672G>A, XM_047416339.1:c.2753G>A, XM_047416340.1:c.2753G>A, XM_047416349.1:c.2753G>A, XM_047416351.1:c.2753G>A, XM_047416329.1:c.2672G>A, XM_047416330.1:c.2753G>A, XM_047416334.1:c.2753G>A, XM_047416364.1:c.2672G>A, XM_047416371.1:c.2672G>A, XM_047416347.1:c.2753G>A, XM_047416380.1:c.2672G>A, XM_047416381.1:c.2540G>A, XM_047416350.1:c.2753G>A, XM_047416355.1:c.2672G>A, XM_047416369.1:c.2540G>A, XM_047416394.1:c.2540G>A, XM_047416398.1:c.2540G>A, XM_047416406.1:c.2540G>A, XM_047416409.1:c.2420G>A, XM_047416411.1:c.2540G>A, XM_047416388.1:c.2540G>A, XM_047416389.1:c.2459G>A, XM_047416392.1:c.2540G>A, XM_047416416.1:c.2420G>A, XM_047416417.1:c.2420G>A, XM_047416421.1:c.2420G>A, XM_047416413.1:c.2459G>A, XM_047416428.1:c.533G>A, XP_005270737.1:p.Cys918Tyr, NP_001009881.1:p.Cys918Tyr, XP_005270735.1:p.Cys918Tyr, XP_016856293.1:p.Cys891Tyr, XP_005270733.1:p.Cys918Tyr, XP_005270736.1:p.Cys918Tyr, XP_016856294.1:p.Cys918Tyr, XP_005270738.1:p.Cys918Tyr, XP_016856296.1:p.Cys847Tyr, XP_016856299.1:p.Cys807Tyr, XP_005270739.1:p.Cys807Tyr, NP_056084.1:p.Cys918Tyr, XP_011539399.1:p.Cys918Tyr, XP_016856292.1:p.Cys891Tyr, XP_016856295.1:p.Cys847Tyr, XP_011539401.1:p.Cys820Tyr, XP_016856297.1:p.Cys807Tyr, XP_016856307.1:p.Cys807Tyr, XP_047272281.1:p.Cys918Tyr, XP_047272282.1:p.Cys918Tyr, XP_047272283.1:p.Cys918Tyr, XP_047272280.1:p.Cys918Tyr, XP_047272288.1:p.Cys891Tyr, XP_047272295.1:p.Cys918Tyr, XP_047272296.1:p.Cys918Tyr, XP_047272305.1:p.Cys918Tyr, XP_047272307.1:p.Cys918Tyr, XP_047272285.1:p.Cys891Tyr, XP_047272286.1:p.Cys918Tyr, XP_047272290.1:p.Cys918Tyr, XP_047272320.1:p.Cys891Tyr, XP_047272327.1:p.Cys891Tyr, XP_047272303.1:p.Cys918Tyr, XP_047272336.1:p.Cys891Tyr, XP_047272337.1:p.Cys847Tyr, XP_047272306.1:p.Cys918Tyr, XP_047272311.1:p.Cys891Tyr, XP_047272325.1:p.Cys847Tyr, XP_047272350.1:p.Cys847Tyr, XP_047272354.1:p.Cys847Tyr, XP_047272362.1:p.Cys847Tyr, XP_047272365.1:p.Cys807Tyr, XP_047272367.1:p.Cys847Tyr, XP_047272344.1:p.Cys847Tyr, XP_047272345.1:p.Cys820Tyr, XP_047272348.1:p.Cys847Tyr, XP_047272372.1:p.Cys807Tyr, XP_047272373.1:p.Cys807Tyr, XP_047272377.1:p.Cys807Tyr, XP_047272369.1:p.Cys820Tyr, XP_047272384.1:p.Cys178Tyr

      3.

      rs1489569724 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        1:52495501 (GRCh38)
        1:52961173 (GRCh37)
        Canonical SPDI:
        NC_000001.11:52495500:A:T
        Gene:
        TUT4 (Varview)
        Functional Consequence:
        missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000001.11:g.52495501A>T, NC_000001.10:g.52961173A>T, XM_005270680.4:c.1192T>A, XM_005270680.3:c.1192T>A, XM_005270680.2:c.1192T>A, XM_005270680.1:c.1192T>A, NM_001009881.3:c.1192T>A, NM_001009881.2:c.1192T>A, XM_005270678.3:c.1192T>A, XM_005270678.2:c.1192T>A, XM_005270678.1:c.1192T>A, XM_017000804.3:c.1192T>A, XM_017000804.2:c.1192T>A, XM_017000804.1:c.1192T>A, XM_005270676.3:c.1192T>A, XM_005270676.2:c.1192T>A, XM_005270676.1:c.1192T>A, XM_005270679.3:c.1192T>A, XM_005270679.2:c.1192T>A, XM_005270679.1:c.1192T>A, XM_017000805.3:c.1192T>A, XM_017000805.2:c.1192T>A, XM_017000805.1:c.1192T>A, XM_005270681.3:c.1192T>A, XM_005270681.2:c.1192T>A, XM_005270681.1:c.1192T>A, XM_017000807.3:c.1192T>A, XM_017000807.2:c.1192T>A, XM_017000807.1:c.1192T>A, XM_017000810.3:c.1192T>A, XM_017000810.2:c.1192T>A, XM_017000810.1:c.1192T>A, XM_005270682.3:c.1192T>A, XM_005270682.2:c.1192T>A, XM_005270682.1:c.1192T>A, NM_015269.2:c.1192T>A, XM_011541097.2:c.1192T>A, XM_011541097.1:c.1192T>A, XM_017000803.2:c.1192T>A, XM_017000803.1:c.1192T>A, XM_017000806.2:c.1192T>A, XM_017000806.1:c.1192T>A, XM_011541099.2:c.1192T>A, XM_011541099.1:c.1192T>A, XM_017000808.2:c.1192T>A, XM_017000808.1:c.1192T>A, XM_017000818.2:c.1192T>A, XM_017000818.1:c.1192T>A, XM_047416325.1:c.1192T>A, XM_047416326.1:c.1192T>A, XM_047416327.1:c.1192T>A, NM_001009882.1:c.1192T>A, XM_047416324.1:c.1192T>A, XM_047416332.1:c.1192T>A, XM_047416339.1:c.1192T>A, XM_047416340.1:c.1192T>A, XM_047416349.1:c.1192T>A, XM_047416351.1:c.1192T>A, XM_047416329.1:c.1192T>A, XM_047416330.1:c.1192T>A, XM_047416334.1:c.1192T>A, XM_047416364.1:c.1192T>A, XM_047416371.1:c.1192T>A, XM_047416347.1:c.1192T>A, XM_047416380.1:c.1192T>A, XM_047416381.1:c.1192T>A, XM_047416350.1:c.1192T>A, XM_047416355.1:c.1192T>A, XM_047416369.1:c.1192T>A, XM_047416394.1:c.1192T>A, XM_047416398.1:c.1192T>A, XM_047416406.1:c.1192T>A, XM_047416409.1:c.1192T>A, XM_047416411.1:c.1192T>A, XM_047416388.1:c.1192T>A, XM_047416389.1:c.1192T>A, XM_047416392.1:c.1192T>A, XM_047416416.1:c.1192T>A, XM_047416417.1:c.1192T>A, XM_047416421.1:c.1192T>A, XM_047416413.1:c.1192T>A, XP_005270737.1:p.Leu398Met, NP_001009881.1:p.Leu398Met, XP_005270735.1:p.Leu398Met, XP_016856293.1:p.Leu398Met, XP_005270733.1:p.Leu398Met, XP_005270736.1:p.Leu398Met, XP_016856294.1:p.Leu398Met, XP_005270738.1:p.Leu398Met, XP_016856296.1:p.Leu398Met, XP_016856299.1:p.Leu398Met, XP_005270739.1:p.Leu398Met, NP_056084.1:p.Leu398Met, XP_011539399.1:p.Leu398Met, XP_016856292.1:p.Leu398Met, XP_016856295.1:p.Leu398Met, XP_011539401.1:p.Leu398Met, XP_016856297.1:p.Leu398Met, XP_016856307.1:p.Leu398Met, XP_047272281.1:p.Leu398Met, XP_047272282.1:p.Leu398Met, XP_047272283.1:p.Leu398Met, XP_047272280.1:p.Leu398Met, XP_047272288.1:p.Leu398Met, XP_047272295.1:p.Leu398Met, XP_047272296.1:p.Leu398Met, XP_047272305.1:p.Leu398Met, XP_047272307.1:p.Leu398Met, XP_047272285.1:p.Leu398Met, XP_047272286.1:p.Leu398Met, XP_047272290.1:p.Leu398Met, XP_047272320.1:p.Leu398Met, XP_047272327.1:p.Leu398Met, XP_047272303.1:p.Leu398Met, XP_047272336.1:p.Leu398Met, XP_047272337.1:p.Leu398Met, XP_047272306.1:p.Leu398Met, XP_047272311.1:p.Leu398Met, XP_047272325.1:p.Leu398Met, XP_047272350.1:p.Leu398Met, XP_047272354.1:p.Leu398Met, XP_047272362.1:p.Leu398Met, XP_047272365.1:p.Leu398Met, XP_047272367.1:p.Leu398Met, XP_047272344.1:p.Leu398Met, XP_047272345.1:p.Leu398Met, XP_047272348.1:p.Leu398Met, XP_047272372.1:p.Leu398Met, XP_047272373.1:p.Leu398Met, XP_047272377.1:p.Leu398Met, XP_047272369.1:p.Leu398Met

        4.

        rs1488678380 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:52516051 (GRCh38)
          1:52981723 (GRCh37)
          Canonical SPDI:
          NC_000001.11:52516050:T:C
          Gene:
          TUT4 (Varview)
          Functional Consequence:
          missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000071/1 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000001.11:g.52516051T>C, NC_000001.10:g.52981723T>C, XM_005270680.4:c.722A>G, XM_005270680.3:c.722A>G, XM_005270680.2:c.722A>G, XM_005270680.1:c.722A>G, NM_001009881.3:c.722A>G, NM_001009881.2:c.722A>G, XM_005270678.3:c.722A>G, XM_005270678.2:c.722A>G, XM_005270678.1:c.722A>G, XM_017000804.3:c.722A>G, XM_017000804.2:c.722A>G, XM_017000804.1:c.722A>G, XM_005270676.3:c.722A>G, XM_005270676.2:c.722A>G, XM_005270676.1:c.722A>G, XM_005270679.3:c.722A>G, XM_005270679.2:c.722A>G, XM_005270679.1:c.722A>G, XM_017000805.3:c.722A>G, XM_017000805.2:c.722A>G, XM_017000805.1:c.722A>G, XM_005270681.3:c.722A>G, XM_005270681.2:c.722A>G, XM_005270681.1:c.722A>G, XM_017000807.3:c.722A>G, XM_017000807.2:c.722A>G, XM_017000807.1:c.722A>G, XM_017000810.3:c.722A>G, XM_017000810.2:c.722A>G, XM_017000810.1:c.722A>G, XM_005270682.3:c.722A>G, XM_005270682.2:c.722A>G, XM_005270682.1:c.722A>G, NM_015269.2:c.722A>G, XM_011541097.2:c.722A>G, XM_011541097.1:c.722A>G, XM_017000803.2:c.722A>G, XM_017000803.1:c.722A>G, XM_017000806.2:c.722A>G, XM_017000806.1:c.722A>G, XM_011541099.2:c.722A>G, XM_011541099.1:c.722A>G, XM_017000808.2:c.722A>G, XM_017000808.1:c.722A>G, XM_017000818.2:c.722A>G, XM_017000818.1:c.722A>G, XM_047416325.1:c.722A>G, XM_047416326.1:c.722A>G, XM_047416327.1:c.722A>G, NM_001009882.1:c.722A>G, XM_047416324.1:c.722A>G, XM_047416332.1:c.722A>G, XM_047416339.1:c.722A>G, XM_047416340.1:c.722A>G, XM_047416349.1:c.722A>G, XM_047416351.1:c.722A>G, XM_047416329.1:c.722A>G, XM_047416330.1:c.722A>G, XM_047416334.1:c.722A>G, XM_047416364.1:c.722A>G, XM_047416371.1:c.722A>G, XM_047416347.1:c.722A>G, XM_047416380.1:c.722A>G, XM_047416381.1:c.722A>G, XM_047416350.1:c.722A>G, XM_047416355.1:c.722A>G, XM_047416369.1:c.722A>G, XM_047416394.1:c.722A>G, XM_047416398.1:c.722A>G, XM_047416406.1:c.722A>G, XM_047416409.1:c.722A>G, XM_047416411.1:c.722A>G, XM_047416388.1:c.722A>G, XM_047416389.1:c.722A>G, XM_047416392.1:c.722A>G, XM_047416416.1:c.722A>G, XM_047416417.1:c.722A>G, XM_047416421.1:c.722A>G, XM_047416413.1:c.722A>G, XP_005270737.1:p.Lys241Arg, NP_001009881.1:p.Lys241Arg, XP_005270735.1:p.Lys241Arg, XP_016856293.1:p.Lys241Arg, XP_005270733.1:p.Lys241Arg, XP_005270736.1:p.Lys241Arg, XP_016856294.1:p.Lys241Arg, XP_005270738.1:p.Lys241Arg, XP_016856296.1:p.Lys241Arg, XP_016856299.1:p.Lys241Arg, XP_005270739.1:p.Lys241Arg, NP_056084.1:p.Lys241Arg, XP_011539399.1:p.Lys241Arg, XP_016856292.1:p.Lys241Arg, XP_016856295.1:p.Lys241Arg, XP_011539401.1:p.Lys241Arg, XP_016856297.1:p.Lys241Arg, XP_016856307.1:p.Lys241Arg, XP_047272281.1:p.Lys241Arg, XP_047272282.1:p.Lys241Arg, XP_047272283.1:p.Lys241Arg, XP_047272280.1:p.Lys241Arg, XP_047272288.1:p.Lys241Arg, XP_047272295.1:p.Lys241Arg, XP_047272296.1:p.Lys241Arg, XP_047272305.1:p.Lys241Arg, XP_047272307.1:p.Lys241Arg, XP_047272285.1:p.Lys241Arg, XP_047272286.1:p.Lys241Arg, XP_047272290.1:p.Lys241Arg, XP_047272320.1:p.Lys241Arg, XP_047272327.1:p.Lys241Arg, XP_047272303.1:p.Lys241Arg, XP_047272336.1:p.Lys241Arg, XP_047272337.1:p.Lys241Arg, XP_047272306.1:p.Lys241Arg, XP_047272311.1:p.Lys241Arg, XP_047272325.1:p.Lys241Arg, XP_047272350.1:p.Lys241Arg, XP_047272354.1:p.Lys241Arg, XP_047272362.1:p.Lys241Arg, XP_047272365.1:p.Lys241Arg, XP_047272367.1:p.Lys241Arg, XP_047272344.1:p.Lys241Arg, XP_047272345.1:p.Lys241Arg, XP_047272348.1:p.Lys241Arg, XP_047272372.1:p.Lys241Arg, XP_047272373.1:p.Lys241Arg, XP_047272377.1:p.Lys241Arg, XP_047272369.1:p.Lys241Arg

          5.

          rs1488350294 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            1:52475113 (GRCh38)
            1:52940785 (GRCh37)
            Canonical SPDI:
            NC_000001.11:52475112:G:C
            Gene:
            TUT4 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000014/2 (GnomAD)
            HGVS:
            NC_000001.11:g.52475113G>C, NC_000001.10:g.52940785G>C, XM_005270680.4:c.2446C>G, XM_005270680.3:c.2446C>G, XM_005270680.2:c.2446C>G, XM_005270680.1:c.2446C>G, NM_001009881.3:c.2446C>G, NM_001009881.2:c.2446C>G, XM_005270678.3:c.2446C>G, XM_005270678.2:c.2446C>G, XM_005270678.1:c.2446C>G, XM_017000804.3:c.2365C>G, XM_017000804.2:c.2365C>G, XM_017000804.1:c.2365C>G, XM_005270676.3:c.2446C>G, XM_005270676.2:c.2446C>G, XM_005270676.1:c.2446C>G, XM_005270679.3:c.2446C>G, XM_005270679.2:c.2446C>G, XM_005270679.1:c.2446C>G, XM_017000805.3:c.2446C>G, XM_017000805.2:c.2446C>G, XM_017000805.1:c.2446C>G, XM_005270681.3:c.2446C>G, XM_005270681.2:c.2446C>G, XM_005270681.1:c.2446C>G, XM_017000807.3:c.2233C>G, XM_017000807.2:c.2233C>G, XM_017000807.1:c.2233C>G, XM_017000810.3:c.2113C>G, XM_017000810.2:c.2113C>G, XM_017000810.1:c.2113C>G, XM_005270682.3:c.2113C>G, XM_005270682.2:c.2113C>G, XM_005270682.1:c.2113C>G, NM_015269.2:c.2446C>G, XM_011541097.2:c.2446C>G, XM_011541097.1:c.2446C>G, XM_017000803.2:c.2365C>G, XM_017000803.1:c.2365C>G, XM_017000806.2:c.2233C>G, XM_017000806.1:c.2233C>G, XM_011541099.2:c.2152C>G, XM_011541099.1:c.2152C>G, XM_017000808.2:c.2113C>G, XM_017000808.1:c.2113C>G, XM_017000818.2:c.2113C>G, XM_017000818.1:c.2113C>G, XM_047416325.1:c.2446C>G, XM_047416326.1:c.2446C>G, XM_047416327.1:c.2446C>G, NM_001009882.1:c.2446C>G, XM_047416324.1:c.2446C>G, XM_047416332.1:c.2365C>G, XM_047416339.1:c.2446C>G, XM_047416340.1:c.2446C>G, XM_047416349.1:c.2446C>G, XM_047416351.1:c.2446C>G, XM_047416329.1:c.2365C>G, XM_047416330.1:c.2446C>G, XM_047416334.1:c.2446C>G, XM_047416364.1:c.2365C>G, XM_047416371.1:c.2365C>G, XM_047416347.1:c.2446C>G, XM_047416380.1:c.2365C>G, XM_047416381.1:c.2233C>G, XM_047416350.1:c.2446C>G, XM_047416355.1:c.2365C>G, XM_047416369.1:c.2233C>G, XM_047416394.1:c.2233C>G, XM_047416398.1:c.2233C>G, XM_047416406.1:c.2233C>G, XM_047416409.1:c.2113C>G, XM_047416411.1:c.2233C>G, XM_047416388.1:c.2233C>G, XM_047416389.1:c.2152C>G, XM_047416392.1:c.2233C>G, XM_047416416.1:c.2113C>G, XM_047416417.1:c.2113C>G, XM_047416421.1:c.2113C>G, XM_047416413.1:c.2152C>G, XM_047416428.1:c.226C>G, XP_005270737.1:p.Gln816Glu, NP_001009881.1:p.Gln816Glu, XP_005270735.1:p.Gln816Glu, XP_016856293.1:p.Gln789Glu, XP_005270733.1:p.Gln816Glu, XP_005270736.1:p.Gln816Glu, XP_016856294.1:p.Gln816Glu, XP_005270738.1:p.Gln816Glu, XP_016856296.1:p.Gln745Glu, XP_016856299.1:p.Gln705Glu, XP_005270739.1:p.Gln705Glu, NP_056084.1:p.Gln816Glu, XP_011539399.1:p.Gln816Glu, XP_016856292.1:p.Gln789Glu, XP_016856295.1:p.Gln745Glu, XP_011539401.1:p.Gln718Glu, XP_016856297.1:p.Gln705Glu, XP_016856307.1:p.Gln705Glu, XP_047272281.1:p.Gln816Glu, XP_047272282.1:p.Gln816Glu, XP_047272283.1:p.Gln816Glu, XP_047272280.1:p.Gln816Glu, XP_047272288.1:p.Gln789Glu, XP_047272295.1:p.Gln816Glu, XP_047272296.1:p.Gln816Glu, XP_047272305.1:p.Gln816Glu, XP_047272307.1:p.Gln816Glu, XP_047272285.1:p.Gln789Glu, XP_047272286.1:p.Gln816Glu, XP_047272290.1:p.Gln816Glu, XP_047272320.1:p.Gln789Glu, XP_047272327.1:p.Gln789Glu, XP_047272303.1:p.Gln816Glu, XP_047272336.1:p.Gln789Glu, XP_047272337.1:p.Gln745Glu, XP_047272306.1:p.Gln816Glu, XP_047272311.1:p.Gln789Glu, XP_047272325.1:p.Gln745Glu, XP_047272350.1:p.Gln745Glu, XP_047272354.1:p.Gln745Glu, XP_047272362.1:p.Gln745Glu, XP_047272365.1:p.Gln705Glu, XP_047272367.1:p.Gln745Glu, XP_047272344.1:p.Gln745Glu, XP_047272345.1:p.Gln718Glu, XP_047272348.1:p.Gln745Glu, XP_047272372.1:p.Gln705Glu, XP_047272373.1:p.Gln705Glu, XP_047272377.1:p.Gln705Glu, XP_047272369.1:p.Gln718Glu, XP_047272384.1:p.Gln76Glu

            6.

            rs1488037349 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:52475505 (GRCh38)
              1:52941177 (GRCh37)
              Canonical SPDI:
              NC_000001.11:52475504:C:T
              Gene:
              TUT4 (Varview)
              Functional Consequence:
              missense_variant,5_prime_UTR_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000001.11:g.52475505C>T, NC_000001.10:g.52941177C>T, XM_005270680.4:c.2054G>A, XM_005270680.3:c.2054G>A, XM_005270680.2:c.2054G>A, XM_005270680.1:c.2054G>A, NM_001009881.3:c.2054G>A, NM_001009881.2:c.2054G>A, XM_005270678.3:c.2054G>A, XM_005270678.2:c.2054G>A, XM_005270678.1:c.2054G>A, XM_017000804.3:c.1973G>A, XM_017000804.2:c.1973G>A, XM_017000804.1:c.1973G>A, XM_005270676.3:c.2054G>A, XM_005270676.2:c.2054G>A, XM_005270676.1:c.2054G>A, XM_005270679.3:c.2054G>A, XM_005270679.2:c.2054G>A, XM_005270679.1:c.2054G>A, XM_017000805.3:c.2054G>A, XM_017000805.2:c.2054G>A, XM_017000805.1:c.2054G>A, XM_005270681.3:c.2054G>A, XM_005270681.2:c.2054G>A, XM_005270681.1:c.2054G>A, XM_017000807.3:c.1841G>A, XM_017000807.2:c.1841G>A, XM_017000807.1:c.1841G>A, XM_017000810.3:c.1721G>A, XM_017000810.2:c.1721G>A, XM_017000810.1:c.1721G>A, XM_005270682.3:c.1721G>A, XM_005270682.2:c.1721G>A, XM_005270682.1:c.1721G>A, NM_015269.2:c.2054G>A, XM_011541097.2:c.2054G>A, XM_011541097.1:c.2054G>A, XM_017000803.2:c.1973G>A, XM_017000803.1:c.1973G>A, XM_017000806.2:c.1841G>A, XM_017000806.1:c.1841G>A, XM_011541099.2:c.1760G>A, XM_011541099.1:c.1760G>A, XM_017000808.2:c.1721G>A, XM_017000808.1:c.1721G>A, XM_017000818.2:c.1721G>A, XM_017000818.1:c.1721G>A, XM_047416325.1:c.2054G>A, XM_047416326.1:c.2054G>A, XM_047416327.1:c.2054G>A, NM_001009882.1:c.2054G>A, XM_047416324.1:c.2054G>A, XM_047416332.1:c.1973G>A, XM_047416339.1:c.2054G>A, XM_047416340.1:c.2054G>A, XM_047416349.1:c.2054G>A, XM_047416351.1:c.2054G>A, XM_047416329.1:c.1973G>A, XM_047416330.1:c.2054G>A, XM_047416334.1:c.2054G>A, XM_047416364.1:c.1973G>A, XM_047416371.1:c.1973G>A, XM_047416347.1:c.2054G>A, XM_047416380.1:c.1973G>A, XM_047416381.1:c.1841G>A, XM_047416350.1:c.2054G>A, XM_047416355.1:c.1973G>A, XM_047416369.1:c.1841G>A, XM_047416394.1:c.1841G>A, XM_047416398.1:c.1841G>A, XM_047416406.1:c.1841G>A, XM_047416409.1:c.1721G>A, XM_047416411.1:c.1841G>A, XM_047416388.1:c.1841G>A, XM_047416389.1:c.1760G>A, XM_047416392.1:c.1841G>A, XM_047416416.1:c.1721G>A, XM_047416417.1:c.1721G>A, XM_047416421.1:c.1721G>A, XM_047416413.1:c.1760G>A, XM_047416428.1:c.-167G>A, XP_005270737.1:p.Arg685Gln, NP_001009881.1:p.Arg685Gln, XP_005270735.1:p.Arg685Gln, XP_016856293.1:p.Arg658Gln, XP_005270733.1:p.Arg685Gln, XP_005270736.1:p.Arg685Gln, XP_016856294.1:p.Arg685Gln, XP_005270738.1:p.Arg685Gln, XP_016856296.1:p.Arg614Gln, XP_016856299.1:p.Arg574Gln, XP_005270739.1:p.Arg574Gln, NP_056084.1:p.Arg685Gln, XP_011539399.1:p.Arg685Gln, XP_016856292.1:p.Arg658Gln, XP_016856295.1:p.Arg614Gln, XP_011539401.1:p.Arg587Gln, XP_016856297.1:p.Arg574Gln, XP_016856307.1:p.Arg574Gln, XP_047272281.1:p.Arg685Gln, XP_047272282.1:p.Arg685Gln, XP_047272283.1:p.Arg685Gln, XP_047272280.1:p.Arg685Gln, XP_047272288.1:p.Arg658Gln, XP_047272295.1:p.Arg685Gln, XP_047272296.1:p.Arg685Gln, XP_047272305.1:p.Arg685Gln, XP_047272307.1:p.Arg685Gln, XP_047272285.1:p.Arg658Gln, XP_047272286.1:p.Arg685Gln, XP_047272290.1:p.Arg685Gln, XP_047272320.1:p.Arg658Gln, XP_047272327.1:p.Arg658Gln, XP_047272303.1:p.Arg685Gln, XP_047272336.1:p.Arg658Gln, XP_047272337.1:p.Arg614Gln, XP_047272306.1:p.Arg685Gln, XP_047272311.1:p.Arg658Gln, XP_047272325.1:p.Arg614Gln, XP_047272350.1:p.Arg614Gln, XP_047272354.1:p.Arg614Gln, XP_047272362.1:p.Arg614Gln, XP_047272365.1:p.Arg574Gln, XP_047272367.1:p.Arg614Gln, XP_047272344.1:p.Arg614Gln, XP_047272345.1:p.Arg587Gln, XP_047272348.1:p.Arg614Gln, XP_047272372.1:p.Arg574Gln, XP_047272373.1:p.Arg574Gln, XP_047272377.1:p.Arg574Gln, XP_047272369.1:p.Arg587Gln

              7.

              rs1486980483 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                1:52475338 (GRCh38)
                1:52941010 (GRCh37)
                Canonical SPDI:
                NC_000001.11:52475337:T:C,NC_000001.11:52475337:T:G
                Gene:
                TUT4 (Varview)
                Functional Consequence:
                missense_variant,initiator_codon_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                G=0.000318/5 (TOMMO)
                HGVS:
                NC_000001.11:g.52475338T>C, NC_000001.11:g.52475338T>G, NC_000001.10:g.52941010T>C, NC_000001.10:g.52941010T>G, XM_005270680.4:c.2221A>G, XM_005270680.4:c.2221A>C, XM_005270680.3:c.2221A>G, XM_005270680.3:c.2221A>C, XM_005270680.2:c.2221A>G, XM_005270680.2:c.2221A>C, XM_005270680.1:c.2221A>G, XM_005270680.1:c.2221A>C, NM_001009881.3:c.2221A>G, NM_001009881.3:c.2221A>C, NM_001009881.2:c.2221A>G, NM_001009881.2:c.2221A>C, XM_005270678.3:c.2221A>G, XM_005270678.3:c.2221A>C, XM_005270678.2:c.2221A>G, XM_005270678.2:c.2221A>C, XM_005270678.1:c.2221A>G, XM_005270678.1:c.2221A>C, XM_017000804.3:c.2140A>G, XM_017000804.3:c.2140A>C, XM_017000804.2:c.2140A>G, XM_017000804.2:c.2140A>C, XM_017000804.1:c.2140A>G, XM_017000804.1:c.2140A>C, XM_005270676.3:c.2221A>G, XM_005270676.3:c.2221A>C, XM_005270676.2:c.2221A>G, XM_005270676.2:c.2221A>C, XM_005270676.1:c.2221A>G, XM_005270676.1:c.2221A>C, XM_005270679.3:c.2221A>G, XM_005270679.3:c.2221A>C, XM_005270679.2:c.2221A>G, XM_005270679.2:c.2221A>C, XM_005270679.1:c.2221A>G, XM_005270679.1:c.2221A>C, XM_017000805.3:c.2221A>G, XM_017000805.3:c.2221A>C, XM_017000805.2:c.2221A>G, XM_017000805.2:c.2221A>C, XM_017000805.1:c.2221A>G, XM_017000805.1:c.2221A>C, XM_005270681.3:c.2221A>G, XM_005270681.3:c.2221A>C, XM_005270681.2:c.2221A>G, XM_005270681.2:c.2221A>C, XM_005270681.1:c.2221A>G, XM_005270681.1:c.2221A>C, XM_017000807.3:c.2008A>G, XM_017000807.3:c.2008A>C, XM_017000807.2:c.2008A>G, XM_017000807.2:c.2008A>C, XM_017000807.1:c.2008A>G, XM_017000807.1:c.2008A>C, XM_017000810.3:c.1888A>G, XM_017000810.3:c.1888A>C, XM_017000810.2:c.1888A>G, XM_017000810.2:c.1888A>C, XM_017000810.1:c.1888A>G, XM_017000810.1:c.1888A>C, XM_005270682.3:c.1888A>G, XM_005270682.3:c.1888A>C, XM_005270682.2:c.1888A>G, XM_005270682.2:c.1888A>C, XM_005270682.1:c.1888A>G, XM_005270682.1:c.1888A>C, NM_015269.2:c.2221A>G, NM_015269.2:c.2221A>C, XM_011541097.2:c.2221A>G, XM_011541097.2:c.2221A>C, XM_011541097.1:c.2221A>G, XM_011541097.1:c.2221A>C, XM_017000803.2:c.2140A>G, XM_017000803.2:c.2140A>C, XM_017000803.1:c.2140A>G, XM_017000803.1:c.2140A>C, XM_017000806.2:c.2008A>G, XM_017000806.2:c.2008A>C, XM_017000806.1:c.2008A>G, XM_017000806.1:c.2008A>C, XM_011541099.2:c.1927A>G, XM_011541099.2:c.1927A>C, XM_011541099.1:c.1927A>G, XM_011541099.1:c.1927A>C, XM_017000808.2:c.1888A>G, XM_017000808.2:c.1888A>C, XM_017000808.1:c.1888A>G, XM_017000808.1:c.1888A>C, XM_017000818.2:c.1888A>G, XM_017000818.2:c.1888A>C, XM_017000818.1:c.1888A>G, XM_017000818.1:c.1888A>C, XM_047416325.1:c.2221A>G, XM_047416325.1:c.2221A>C, XM_047416326.1:c.2221A>G, XM_047416326.1:c.2221A>C, XM_047416327.1:c.2221A>G, XM_047416327.1:c.2221A>C, NM_001009882.1:c.2221A>G, NM_001009882.1:c.2221A>C, XM_047416324.1:c.2221A>G, XM_047416324.1:c.2221A>C, XM_047416332.1:c.2140A>G, XM_047416332.1:c.2140A>C, XM_047416339.1:c.2221A>G, XM_047416339.1:c.2221A>C, XM_047416340.1:c.2221A>G, XM_047416340.1:c.2221A>C, XM_047416349.1:c.2221A>G, XM_047416349.1:c.2221A>C, XM_047416351.1:c.2221A>G, XM_047416351.1:c.2221A>C, XM_047416329.1:c.2140A>G, XM_047416329.1:c.2140A>C, XM_047416330.1:c.2221A>G, XM_047416330.1:c.2221A>C, XM_047416334.1:c.2221A>G, XM_047416334.1:c.2221A>C, XM_047416364.1:c.2140A>G, XM_047416364.1:c.2140A>C, XM_047416371.1:c.2140A>G, XM_047416371.1:c.2140A>C, XM_047416347.1:c.2221A>G, XM_047416347.1:c.2221A>C, XM_047416380.1:c.2140A>G, XM_047416380.1:c.2140A>C, XM_047416381.1:c.2008A>G, XM_047416381.1:c.2008A>C, XM_047416350.1:c.2221A>G, XM_047416350.1:c.2221A>C, XM_047416355.1:c.2140A>G, XM_047416355.1:c.2140A>C, XM_047416369.1:c.2008A>G, XM_047416369.1:c.2008A>C, XM_047416394.1:c.2008A>G, XM_047416394.1:c.2008A>C, XM_047416398.1:c.2008A>G, XM_047416398.1:c.2008A>C, XM_047416406.1:c.2008A>G, XM_047416406.1:c.2008A>C, XM_047416409.1:c.1888A>G, XM_047416409.1:c.1888A>C, XM_047416411.1:c.2008A>G, XM_047416411.1:c.2008A>C, XM_047416388.1:c.2008A>G, XM_047416388.1:c.2008A>C, XM_047416389.1:c.1927A>G, XM_047416389.1:c.1927A>C, XM_047416392.1:c.2008A>G, XM_047416392.1:c.2008A>C, XM_047416416.1:c.1888A>G, XM_047416416.1:c.1888A>C, XM_047416417.1:c.1888A>G, XM_047416417.1:c.1888A>C, XM_047416421.1:c.1888A>G, XM_047416421.1:c.1888A>C, XM_047416413.1:c.1927A>G, XM_047416413.1:c.1927A>C, XM_047416428.1:c.1A>G, XM_047416428.1:c.1A>C, XP_005270737.1:p.Met741Val, XP_005270737.1:p.Met741Leu, NP_001009881.1:p.Met741Val, NP_001009881.1:p.Met741Leu, XP_005270735.1:p.Met741Val, XP_005270735.1:p.Met741Leu, XP_016856293.1:p.Met714Val, XP_016856293.1:p.Met714Leu, XP_005270733.1:p.Met741Val, XP_005270733.1:p.Met741Leu, XP_005270736.1:p.Met741Val, XP_005270736.1:p.Met741Leu, XP_016856294.1:p.Met741Val, XP_016856294.1:p.Met741Leu, XP_005270738.1:p.Met741Val, XP_005270738.1:p.Met741Leu, XP_016856296.1:p.Met670Val, XP_016856296.1:p.Met670Leu, XP_016856299.1:p.Met630Val, XP_016856299.1:p.Met630Leu, XP_005270739.1:p.Met630Val, XP_005270739.1:p.Met630Leu, NP_056084.1:p.Met741Val, NP_056084.1:p.Met741Leu, XP_011539399.1:p.Met741Val, XP_011539399.1:p.Met741Leu, XP_016856292.1:p.Met714Val, XP_016856292.1:p.Met714Leu, XP_016856295.1:p.Met670Val, XP_016856295.1:p.Met670Leu, XP_011539401.1:p.Met643Val, XP_011539401.1:p.Met643Leu, XP_016856297.1:p.Met630Val, XP_016856297.1:p.Met630Leu, XP_016856307.1:p.Met630Val, XP_016856307.1:p.Met630Leu, XP_047272281.1:p.Met741Val, XP_047272281.1:p.Met741Leu, XP_047272282.1:p.Met741Val, XP_047272282.1:p.Met741Leu, XP_047272283.1:p.Met741Val, XP_047272283.1:p.Met741Leu, XP_047272280.1:p.Met741Val, XP_047272280.1:p.Met741Leu, XP_047272288.1:p.Met714Val, XP_047272288.1:p.Met714Leu, XP_047272295.1:p.Met741Val, XP_047272295.1:p.Met741Leu, XP_047272296.1:p.Met741Val, XP_047272296.1:p.Met741Leu, XP_047272305.1:p.Met741Val, XP_047272305.1:p.Met741Leu, XP_047272307.1:p.Met741Val, XP_047272307.1:p.Met741Leu, XP_047272285.1:p.Met714Val, XP_047272285.1:p.Met714Leu, XP_047272286.1:p.Met741Val, XP_047272286.1:p.Met741Leu, XP_047272290.1:p.Met741Val, XP_047272290.1:p.Met741Leu, XP_047272320.1:p.Met714Val, XP_047272320.1:p.Met714Leu, XP_047272327.1:p.Met714Val, XP_047272327.1:p.Met714Leu, XP_047272303.1:p.Met741Val, XP_047272303.1:p.Met741Leu, XP_047272336.1:p.Met714Val, XP_047272336.1:p.Met714Leu, XP_047272337.1:p.Met670Val, XP_047272337.1:p.Met670Leu, XP_047272306.1:p.Met741Val, XP_047272306.1:p.Met741Leu, XP_047272311.1:p.Met714Val, XP_047272311.1:p.Met714Leu, XP_047272325.1:p.Met670Val, XP_047272325.1:p.Met670Leu, XP_047272350.1:p.Met670Val, XP_047272350.1:p.Met670Leu, XP_047272354.1:p.Met670Val, XP_047272354.1:p.Met670Leu, XP_047272362.1:p.Met670Val, XP_047272362.1:p.Met670Leu, XP_047272365.1:p.Met630Val, XP_047272365.1:p.Met630Leu, XP_047272367.1:p.Met670Val, XP_047272367.1:p.Met670Leu, XP_047272344.1:p.Met670Val, XP_047272344.1:p.Met670Leu, XP_047272345.1:p.Met643Val, XP_047272345.1:p.Met643Leu, XP_047272348.1:p.Met670Val, XP_047272348.1:p.Met670Leu, XP_047272372.1:p.Met630Val, XP_047272372.1:p.Met630Leu, XP_047272373.1:p.Met630Val, XP_047272373.1:p.Met630Leu, XP_047272377.1:p.Met630Val, XP_047272377.1:p.Met630Leu, XP_047272369.1:p.Met643Val, XP_047272369.1:p.Met643Leu, XP_047272384.1:p.Met1Val, XP_047272384.1:p.Met1Leu

                8.

                rs1486708967 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  1:52431050 (GRCh38)
                  1:52896722 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:52431049:T:C,NC_000001.11:52431049:T:G
                  Gene:
                  TUT4 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.52431050T>C, NC_000001.11:g.52431050T>G, NC_000001.10:g.52896722T>C, NC_000001.10:g.52896722T>G, XM_005270680.4:c.4659A>G, XM_005270680.4:c.4659A>C, XM_005270680.3:c.4659A>G, XM_005270680.3:c.4659A>C, XM_005270680.2:c.4659A>G, XM_005270680.2:c.4659A>C, XM_005270680.1:c.4659A>G, XM_005270680.1:c.4659A>C, NM_001009881.3:c.4674A>G, NM_001009881.3:c.4674A>C, NM_001009881.2:c.4674A>G, NM_001009881.2:c.4674A>C, XM_005270678.3:c.4671A>G, XM_005270678.3:c.4671A>C, XM_005270678.2:c.4671A>G, XM_005270678.2:c.4671A>C, XM_005270678.1:c.4671A>G, XM_005270678.1:c.4671A>C, XM_017000804.3:c.4578A>G, XM_017000804.3:c.4578A>C, XM_017000804.2:c.4578A>G, XM_017000804.2:c.4578A>C, XM_017000804.1:c.4578A>G, XM_017000804.1:c.4578A>C, XM_005270676.3:c.4674A>G, XM_005270676.3:c.4674A>C, XM_005270676.2:c.4674A>G, XM_005270676.2:c.4674A>C, XM_005270676.1:c.4674A>G, XM_005270676.1:c.4674A>C, XM_005270679.3:c.4659A>G, XM_005270679.3:c.4659A>C, XM_005270679.2:c.4659A>G, XM_005270679.2:c.4659A>C, XM_005270679.1:c.4659A>G, XM_005270679.1:c.4659A>C, XM_017000805.3:c.4545A>G, XM_017000805.3:c.4545A>C, XM_017000805.2:c.4545A>G, XM_017000805.2:c.4545A>C, XM_017000805.1:c.4545A>G, XM_017000805.1:c.4545A>C, XM_005270681.3:c.4560A>G, XM_005270681.3:c.4560A>C, XM_005270681.2:c.4560A>G, XM_005270681.2:c.4560A>C, XM_005270681.1:c.4560A>G, XM_005270681.1:c.4560A>C, XM_017000807.3:c.4446A>G, XM_017000807.3:c.4446A>C, XM_017000807.2:c.4446A>G, XM_017000807.2:c.4446A>C, XM_017000807.1:c.4446A>G, XM_017000807.1:c.4446A>C, XM_017000810.3:c.4326A>G, XM_017000810.3:c.4326A>C, XM_017000810.2:c.4326A>G, XM_017000810.2:c.4326A>C, XM_017000810.1:c.4326A>G, XM_017000810.1:c.4326A>C, XM_005270682.3:c.4341A>G, XM_005270682.3:c.4341A>C, XM_005270682.2:c.4341A>G, XM_005270682.2:c.4341A>C, XM_005270682.1:c.4341A>G, XM_005270682.1:c.4341A>C, NM_015269.2:c.4671A>G, NM_015269.2:c.4671A>C, XM_011541097.2:c.4674A>G, XM_011541097.2:c.4674A>C, XM_011541097.1:c.4674A>G, XM_011541097.1:c.4674A>C, XM_017000803.2:c.4578A>G, XM_017000803.2:c.4578A>C, XM_017000803.1:c.4578A>G, XM_017000803.1:c.4578A>C, XM_017000806.2:c.4446A>G, XM_017000806.2:c.4446A>C, XM_017000806.1:c.4446A>G, XM_017000806.1:c.4446A>C, XM_011541099.2:c.4380A>G, XM_011541099.2:c.4380A>C, XM_011541099.1:c.4380A>G, XM_011541099.1:c.4380A>C, XM_017000808.2:c.4326A>G, XM_017000808.2:c.4326A>C, XM_017000808.1:c.4326A>G, XM_017000808.1:c.4326A>C, XM_047416325.1:c.4674A>G, XM_047416325.1:c.4674A>C, XM_047416326.1:c.4671A>G, XM_047416326.1:c.4671A>C, XM_047416327.1:c.4659A>G, XM_047416327.1:c.4659A>C, NM_001009882.1:c.4659A>G, NM_001009882.1:c.4659A>C, XM_047416324.1:c.4659A>G, XM_047416324.1:c.4659A>C, XM_047416332.1:c.4593A>G, XM_047416332.1:c.4593A>C, XM_047416339.1:c.4587A>G, XM_047416339.1:c.4587A>C, XM_047416340.1:c.4584A>G, XM_047416340.1:c.4584A>C, XM_047416349.1:c.4572A>G, XM_047416349.1:c.4572A>C, XM_047416351.1:c.4557A>G, XM_047416351.1:c.4557A>C, XM_047416329.1:c.4590A>G, XM_047416329.1:c.4590A>C, XM_047416330.1:c.4587A>G, XM_047416330.1:c.4587A>C, XM_047416334.1:c.4572A>G, XM_047416334.1:c.4572A>C, XM_047416364.1:c.4479A>G, XM_047416364.1:c.4479A>C, XM_047416371.1:c.4476A>G, XM_047416371.1:c.4476A>C, XM_047416347.1:c.4557A>G, XM_047416347.1:c.4557A>C, XM_047416380.1:c.4464A>G, XM_047416380.1:c.4464A>C, XM_047416381.1:c.4458A>G, XM_047416381.1:c.4458A>C, XM_047416350.1:c.4545A>G, XM_047416350.1:c.4545A>C, XM_047416355.1:c.4479A>G, XM_047416355.1:c.4479A>C, XM_047416369.1:c.4458A>G, XM_047416369.1:c.4458A>C, XM_047416394.1:c.4359A>G, XM_047416394.1:c.4359A>C, XM_047416398.1:c.4347A>G, XM_047416398.1:c.4347A>C, XM_047416406.1:c.4344A>G, XM_047416406.1:c.4344A>C, XM_047416409.1:c.4338A>G, XM_047416409.1:c.4338A>C, XM_047416411.1:c.4332A>G, XM_047416411.1:c.4332A>C, XM_047416388.1:c.4374A>G, XM_047416388.1:c.4374A>C, XM_047416389.1:c.4365A>G, XM_047416389.1:c.4365A>C, XM_047416392.1:c.4347A>G, XM_047416392.1:c.4347A>C, XM_047416416.1:c.4251A>G, XM_047416416.1:c.4251A>C, XM_047416417.1:c.4227A>G, XM_047416417.1:c.4227A>C, XM_047416421.1:c.4212A>G, XM_047416421.1:c.4212A>C, XM_047416413.1:c.4266A>G, XM_047416413.1:c.4266A>C, XM_047416428.1:c.2454A>G, XM_047416428.1:c.2454A>C

                  9.

                  rs1486427190 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    1:52425364 (GRCh38)
                    1:52891036 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:52425363:G:T
                    Gene:
                    TUT4 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.52425364G>T, NC_000001.10:g.52891036G>T, XM_005270680.4:c.4840C>A, XM_005270680.3:c.4840C>A, XM_005270680.2:c.4840C>A, XM_005270680.1:c.4840C>A, NM_001009881.3:c.4855C>A, NM_001009881.2:c.4855C>A, XM_005270678.3:c.4852C>A, XM_005270678.2:c.4852C>A, XM_005270678.1:c.4852C>A, XM_017000804.3:c.4759C>A, XM_017000804.2:c.4759C>A, XM_017000804.1:c.4759C>A, XM_005270676.3:c.4855C>A, XM_005270676.2:c.4855C>A, XM_005270676.1:c.4855C>A, XM_005270679.3:c.4840C>A, XM_005270679.2:c.4840C>A, XM_005270679.1:c.4840C>A, XM_017000805.3:c.4726C>A, XM_017000805.2:c.4726C>A, XM_017000805.1:c.4726C>A, XM_005270681.3:c.4741C>A, XM_005270681.2:c.4741C>A, XM_005270681.1:c.4741C>A, XM_017000807.3:c.4627C>A, XM_017000807.2:c.4627C>A, XM_017000807.1:c.4627C>A, XM_017000810.3:c.4507C>A, XM_017000810.2:c.4507C>A, XM_017000810.1:c.4507C>A, XM_005270682.3:c.4522C>A, XM_005270682.2:c.4522C>A, XM_005270682.1:c.4522C>A, NM_015269.2:c.4852C>A, XM_011541097.2:c.4855C>A, XM_011541097.1:c.4855C>A, XM_017000803.2:c.4759C>A, XM_017000803.1:c.4759C>A, XM_017000806.2:c.4627C>A, XM_017000806.1:c.4627C>A, XM_011541099.2:c.4561C>A, XM_011541099.1:c.4561C>A, XM_017000808.2:c.4507C>A, XM_017000808.1:c.4507C>A, XM_047416325.1:c.4855C>A, XM_047416326.1:c.4852C>A, XM_047416327.1:c.4840C>A, NM_001009882.1:c.4840C>A, XM_047416324.1:c.4840C>A, XM_047416332.1:c.4774C>A, XM_047416339.1:c.4768C>A, XM_047416340.1:c.4765C>A, XM_047416349.1:c.4753C>A, XM_047416351.1:c.4738C>A, XM_047416329.1:c.4771C>A, XM_047416330.1:c.4768C>A, XM_047416334.1:c.4753C>A, XM_047416364.1:c.4660C>A, XM_047416371.1:c.4657C>A, XM_047416347.1:c.4738C>A, XM_047416380.1:c.4645C>A, XM_047416381.1:c.4639C>A, XM_047416350.1:c.4726C>A, XM_047416355.1:c.4660C>A, XM_047416369.1:c.4639C>A, XM_047416394.1:c.4540C>A, XM_047416398.1:c.4528C>A, XM_047416406.1:c.4525C>A, XM_047416409.1:c.4519C>A, XM_047416411.1:c.4513C>A, XM_047416388.1:c.4555C>A, XM_047416389.1:c.4546C>A, XM_047416392.1:c.4528C>A, XM_047416416.1:c.4432C>A, XM_047416417.1:c.4408C>A, XM_047416421.1:c.4393C>A, XM_047416413.1:c.4447C>A, XM_047416428.1:c.2635C>A, XP_005270737.1:p.Pro1614Thr, NP_001009881.1:p.Pro1619Thr, XP_005270735.1:p.Pro1618Thr, XP_016856293.1:p.Pro1587Thr, XP_005270733.1:p.Pro1619Thr, XP_005270736.1:p.Pro1614Thr, XP_016856294.1:p.Pro1576Thr, XP_005270738.1:p.Pro1581Thr, XP_016856296.1:p.Pro1543Thr, XP_016856299.1:p.Pro1503Thr, XP_005270739.1:p.Pro1508Thr, NP_056084.1:p.Pro1618Thr, XP_011539399.1:p.Pro1619Thr, XP_016856292.1:p.Pro1587Thr, XP_016856295.1:p.Pro1543Thr, XP_011539401.1:p.Pro1521Thr, XP_016856297.1:p.Pro1503Thr, XP_047272281.1:p.Pro1619Thr, XP_047272282.1:p.Pro1618Thr, XP_047272283.1:p.Pro1614Thr, XP_047272280.1:p.Pro1614Thr, XP_047272288.1:p.Pro1592Thr, XP_047272295.1:p.Pro1590Thr, XP_047272296.1:p.Pro1589Thr, XP_047272305.1:p.Pro1585Thr, XP_047272307.1:p.Pro1580Thr, XP_047272285.1:p.Pro1591Thr, XP_047272286.1:p.Pro1590Thr, XP_047272290.1:p.Pro1585Thr, XP_047272320.1:p.Pro1554Thr, XP_047272327.1:p.Pro1553Thr, XP_047272303.1:p.Pro1580Thr, XP_047272336.1:p.Pro1549Thr, XP_047272337.1:p.Pro1547Thr, XP_047272306.1:p.Pro1576Thr, XP_047272311.1:p.Pro1554Thr, XP_047272325.1:p.Pro1547Thr, XP_047272350.1:p.Pro1514Thr, XP_047272354.1:p.Pro1510Thr, XP_047272362.1:p.Pro1509Thr, XP_047272365.1:p.Pro1507Thr, XP_047272367.1:p.Pro1505Thr, XP_047272344.1:p.Pro1519Thr, XP_047272345.1:p.Pro1516Thr, XP_047272348.1:p.Pro1510Thr, XP_047272372.1:p.Pro1478Thr, XP_047272373.1:p.Pro1470Thr, XP_047272377.1:p.Pro1465Thr, XP_047272369.1:p.Pro1483Thr, XP_047272384.1:p.Pro879Thr

                    10.

                    rs1485477218 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:52477819 (GRCh38)
                      1:52943491 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:52477818:T:C
                      Gene:
                      TUT4 (Varview)
                      Functional Consequence:
                      missense_variant,5_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000001.11:g.52477819T>C, NC_000001.10:g.52943491T>C, XM_005270680.4:c.1912A>G, XM_005270680.3:c.1912A>G, XM_005270680.2:c.1912A>G, XM_005270680.1:c.1912A>G, NM_001009881.3:c.1912A>G, NM_001009881.2:c.1912A>G, XM_005270678.3:c.1912A>G, XM_005270678.2:c.1912A>G, XM_005270678.1:c.1912A>G, XM_017000804.3:c.1831A>G, XM_017000804.2:c.1831A>G, XM_017000804.1:c.1831A>G, XM_005270676.3:c.1912A>G, XM_005270676.2:c.1912A>G, XM_005270676.1:c.1912A>G, XM_005270679.3:c.1912A>G, XM_005270679.2:c.1912A>G, XM_005270679.1:c.1912A>G, XM_017000805.3:c.1912A>G, XM_017000805.2:c.1912A>G, XM_017000805.1:c.1912A>G, XM_005270681.3:c.1912A>G, XM_005270681.2:c.1912A>G, XM_005270681.1:c.1912A>G, XM_017000807.3:c.1699A>G, XM_017000807.2:c.1699A>G, XM_017000807.1:c.1699A>G, XM_017000810.3:c.1579A>G, XM_017000810.2:c.1579A>G, XM_017000810.1:c.1579A>G, XM_005270682.3:c.1579A>G, XM_005270682.2:c.1579A>G, XM_005270682.1:c.1579A>G, NM_015269.2:c.1912A>G, XM_011541097.2:c.1912A>G, XM_011541097.1:c.1912A>G, XM_017000803.2:c.1831A>G, XM_017000803.1:c.1831A>G, XM_017000806.2:c.1699A>G, XM_017000806.1:c.1699A>G, XM_011541099.2:c.1618A>G, XM_011541099.1:c.1618A>G, XM_017000808.2:c.1579A>G, XM_017000808.1:c.1579A>G, XM_017000818.2:c.1579A>G, XM_017000818.1:c.1579A>G, XM_047416325.1:c.1912A>G, XM_047416326.1:c.1912A>G, XM_047416327.1:c.1912A>G, NM_001009882.1:c.1912A>G, XM_047416324.1:c.1912A>G, XM_047416332.1:c.1831A>G, XM_047416339.1:c.1912A>G, XM_047416340.1:c.1912A>G, XM_047416349.1:c.1912A>G, XM_047416351.1:c.1912A>G, XM_047416329.1:c.1831A>G, XM_047416330.1:c.1912A>G, XM_047416334.1:c.1912A>G, XM_047416364.1:c.1831A>G, XM_047416371.1:c.1831A>G, XM_047416347.1:c.1912A>G, XM_047416380.1:c.1831A>G, XM_047416381.1:c.1699A>G, XM_047416350.1:c.1912A>G, XM_047416355.1:c.1831A>G, XM_047416369.1:c.1699A>G, XM_047416394.1:c.1699A>G, XM_047416398.1:c.1699A>G, XM_047416406.1:c.1699A>G, XM_047416409.1:c.1579A>G, XM_047416411.1:c.1699A>G, XM_047416388.1:c.1699A>G, XM_047416389.1:c.1618A>G, XM_047416392.1:c.1699A>G, XM_047416416.1:c.1579A>G, XM_047416417.1:c.1579A>G, XM_047416421.1:c.1579A>G, XM_047416413.1:c.1618A>G, XM_047416428.1:c.-309A>G, XP_005270737.1:p.Lys638Glu, NP_001009881.1:p.Lys638Glu, XP_005270735.1:p.Lys638Glu, XP_016856293.1:p.Lys611Glu, XP_005270733.1:p.Lys638Glu, XP_005270736.1:p.Lys638Glu, XP_016856294.1:p.Lys638Glu, XP_005270738.1:p.Lys638Glu, XP_016856296.1:p.Lys567Glu, XP_016856299.1:p.Lys527Glu, XP_005270739.1:p.Lys527Glu, NP_056084.1:p.Lys638Glu, XP_011539399.1:p.Lys638Glu, XP_016856292.1:p.Lys611Glu, XP_016856295.1:p.Lys567Glu, XP_011539401.1:p.Lys540Glu, XP_016856297.1:p.Lys527Glu, XP_016856307.1:p.Lys527Glu, XP_047272281.1:p.Lys638Glu, XP_047272282.1:p.Lys638Glu, XP_047272283.1:p.Lys638Glu, XP_047272280.1:p.Lys638Glu, XP_047272288.1:p.Lys611Glu, XP_047272295.1:p.Lys638Glu, XP_047272296.1:p.Lys638Glu, XP_047272305.1:p.Lys638Glu, XP_047272307.1:p.Lys638Glu, XP_047272285.1:p.Lys611Glu, XP_047272286.1:p.Lys638Glu, XP_047272290.1:p.Lys638Glu, XP_047272320.1:p.Lys611Glu, XP_047272327.1:p.Lys611Glu, XP_047272303.1:p.Lys638Glu, XP_047272336.1:p.Lys611Glu, XP_047272337.1:p.Lys567Glu, XP_047272306.1:p.Lys638Glu, XP_047272311.1:p.Lys611Glu, XP_047272325.1:p.Lys567Glu, XP_047272350.1:p.Lys567Glu, XP_047272354.1:p.Lys567Glu, XP_047272362.1:p.Lys567Glu, XP_047272365.1:p.Lys527Glu, XP_047272367.1:p.Lys567Glu, XP_047272344.1:p.Lys567Glu, XP_047272345.1:p.Lys540Glu, XP_047272348.1:p.Lys567Glu, XP_047272372.1:p.Lys527Glu, XP_047272373.1:p.Lys527Glu, XP_047272377.1:p.Lys527Glu, XP_047272369.1:p.Lys540Glu

                      11.

                      rs1485070144 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:52446375 (GRCh38)
                        1:52912047 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:52446374:C:T
                        Gene:
                        TUT4 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000001.11:g.52446375C>T, NC_000001.10:g.52912047C>T, XM_005270680.4:c.3581G>A, XM_005270680.3:c.3581G>A, XM_005270680.2:c.3581G>A, XM_005270680.1:c.3581G>A, NM_001009881.3:c.3581G>A, NM_001009881.2:c.3581G>A, XM_005270678.3:c.3581G>A, XM_005270678.2:c.3581G>A, XM_005270678.1:c.3581G>A, XM_017000804.3:c.3500G>A, XM_017000804.2:c.3500G>A, XM_017000804.1:c.3500G>A, XM_005270676.3:c.3581G>A, XM_005270676.2:c.3581G>A, XM_005270676.1:c.3581G>A, XM_005270679.3:c.3581G>A, XM_005270679.2:c.3581G>A, XM_005270679.1:c.3581G>A, XM_017000805.3:c.3467G>A, XM_017000805.2:c.3467G>A, XM_017000805.1:c.3467G>A, XM_005270681.3:c.3467G>A, XM_005270681.2:c.3467G>A, XM_005270681.1:c.3467G>A, XM_017000807.3:c.3368G>A, XM_017000807.2:c.3368G>A, XM_017000807.1:c.3368G>A, XM_017000810.3:c.3248G>A, XM_017000810.2:c.3248G>A, XM_017000810.1:c.3248G>A, XM_005270682.3:c.3248G>A, XM_005270682.2:c.3248G>A, XM_005270682.1:c.3248G>A, NM_015269.2:c.3581G>A, XM_011541097.2:c.3581G>A, XM_011541097.1:c.3581G>A, XM_017000803.2:c.3500G>A, XM_017000803.1:c.3500G>A, XM_017000806.2:c.3368G>A, XM_017000806.1:c.3368G>A, XM_011541099.2:c.3287G>A, XM_011541099.1:c.3287G>A, XM_017000808.2:c.3248G>A, XM_017000808.1:c.3248G>A, XM_047416325.1:c.3581G>A, XM_047416326.1:c.3581G>A, XM_047416327.1:c.3581G>A, NM_001009882.1:c.3581G>A, XM_047416324.1:c.3581G>A, XM_047416332.1:c.3500G>A, XM_047416339.1:c.3494G>A, XM_047416340.1:c.3494G>A, XM_047416349.1:c.3494G>A, XM_047416351.1:c.3467G>A, XM_047416329.1:c.3500G>A, XM_047416330.1:c.3494G>A, XM_047416334.1:c.3494G>A, XM_047416364.1:c.3386G>A, XM_047416371.1:c.3386G>A, XM_047416347.1:c.3467G>A, XM_047416380.1:c.3386G>A, XM_047416381.1:c.3368G>A, XM_047416350.1:c.3467G>A, XM_047416355.1:c.3386G>A, XM_047416369.1:c.3368G>A, XM_047416394.1:c.3281G>A, XM_047416398.1:c.3254G>A, XM_047416406.1:c.3254G>A, XM_047416409.1:c.3248G>A, XM_047416411.1:c.3254G>A, XM_047416388.1:c.3281G>A, XM_047416389.1:c.3287G>A, XM_047416392.1:c.3254G>A, XM_047416416.1:c.3161G>A, XM_047416417.1:c.3134G>A, XM_047416421.1:c.3134G>A, XM_047416413.1:c.3173G>A, XM_047416428.1:c.1361G>A, XP_005270737.1:p.Arg1194His, NP_001009881.1:p.Arg1194His, XP_005270735.1:p.Arg1194His, XP_016856293.1:p.Arg1167His, XP_005270733.1:p.Arg1194His, XP_005270736.1:p.Arg1194His, XP_016856294.1:p.Arg1156His, XP_005270738.1:p.Arg1156His, XP_016856296.1:p.Arg1123His, XP_016856299.1:p.Arg1083His, XP_005270739.1:p.Arg1083His, NP_056084.1:p.Arg1194His, XP_011539399.1:p.Arg1194His, XP_016856292.1:p.Arg1167His, XP_016856295.1:p.Arg1123His, XP_011539401.1:p.Arg1096His, XP_016856297.1:p.Arg1083His, XP_047272281.1:p.Arg1194His, XP_047272282.1:p.Arg1194His, XP_047272283.1:p.Arg1194His, XP_047272280.1:p.Arg1194His, XP_047272288.1:p.Arg1167His, XP_047272295.1:p.Arg1165His, XP_047272296.1:p.Arg1165His, XP_047272305.1:p.Arg1165His, XP_047272307.1:p.Arg1156His, XP_047272285.1:p.Arg1167His, XP_047272286.1:p.Arg1165His, XP_047272290.1:p.Arg1165His, XP_047272320.1:p.Arg1129His, XP_047272327.1:p.Arg1129His, XP_047272303.1:p.Arg1156His, XP_047272336.1:p.Arg1129His, XP_047272337.1:p.Arg1123His, XP_047272306.1:p.Arg1156His, XP_047272311.1:p.Arg1129His, XP_047272325.1:p.Arg1123His, XP_047272350.1:p.Arg1094His, XP_047272354.1:p.Arg1085His, XP_047272362.1:p.Arg1085His, XP_047272365.1:p.Arg1083His, XP_047272367.1:p.Arg1085His, XP_047272344.1:p.Arg1094His, XP_047272345.1:p.Arg1096His, XP_047272348.1:p.Arg1085His, XP_047272372.1:p.Arg1054His, XP_047272373.1:p.Arg1045His, XP_047272377.1:p.Arg1045His, XP_047272369.1:p.Arg1058His, XP_047272384.1:p.Arg454His

                        12.

                        rs1484762263 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          1:52423829 (GRCh38)
                          1:52889501 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:52423828:T:G
                          Gene:
                          TUT4 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000006/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.52423829T>G, NC_000001.10:g.52889501T>G, XM_005270680.4:c.*106A>C, XM_005270680.3:c.*106A>C, XM_005270680.2:c.*106A>C, XM_005270680.1:c.*106A>C, NM_001009881.3:c.*106A>C, NM_001009881.2:c.*106A>C, XM_005270678.3:c.4952A>C, XM_005270678.2:c.4952A>C, XM_005270678.1:c.4952A>C, XM_017000804.3:c.*106A>C, XM_017000804.2:c.*106A>C, XM_017000804.1:c.*106A>C, XM_005270676.3:c.4955A>C, XM_005270676.2:c.4955A>C, XM_005270676.1:c.4955A>C, XM_005270679.3:c.4940A>C, XM_005270679.2:c.4940A>C, XM_005270679.1:c.4940A>C, XM_017000805.3:c.*106A>C, XM_017000805.2:c.*106A>C, XM_017000805.1:c.*106A>C, XM_005270681.3:c.4841A>C, XM_005270681.2:c.4841A>C, XM_005270681.1:c.4841A>C, XM_017000807.3:c.*106A>C, XM_017000807.2:c.*106A>C, XM_017000807.1:c.*106A>C, XM_017000810.3:c.*106A>C, XM_017000810.2:c.*106A>C, XM_017000810.1:c.*106A>C, XM_005270682.3:c.4622A>C, XM_005270682.2:c.4622A>C, XM_005270682.1:c.4622A>C, NM_015269.2:c.*106A>C, XM_011541097.2:c.4955A>C, XM_011541097.1:c.4955A>C, XM_017000803.2:c.4859A>C, XM_017000803.1:c.4859A>C, XM_017000806.2:c.4727A>C, XM_017000806.1:c.4727A>C, XM_011541099.2:c.4661A>C, XM_011541099.1:c.4661A>C, XM_017000808.2:c.4607A>C, XM_017000808.1:c.4607A>C, XM_047416325.1:c.*106A>C, XM_047416326.1:c.*106A>C, XM_047416327.1:c.*106A>C, NM_001009882.1:c.*106A>C, XM_047416324.1:c.4940A>C, XM_047416332.1:c.*106A>C, XM_047416339.1:c.*106A>C, XM_047416340.1:c.*106A>C, XM_047416349.1:c.*106A>C, XM_047416351.1:c.*106A>C, XM_047416329.1:c.4871A>C, XM_047416330.1:c.4868A>C, XM_047416334.1:c.4853A>C, XM_047416364.1:c.*106A>C, XM_047416371.1:c.*106A>C, XM_047416347.1:c.4838A>C, XM_047416380.1:c.*106A>C, XM_047416381.1:c.*106A>C, XM_047416350.1:c.4826A>C, XM_047416355.1:c.4760A>C, XM_047416369.1:c.4739A>C, XM_047416394.1:c.*106A>C, XM_047416398.1:c.*106A>C, XM_047416406.1:c.*106A>C, XM_047416409.1:c.*106A>C, XM_047416411.1:c.*106A>C, XM_047416388.1:c.4655A>C, XM_047416389.1:c.4646A>C, XM_047416392.1:c.4628A>C, XM_047416416.1:c.*106A>C, XM_047416417.1:c.*106A>C, XM_047416421.1:c.*106A>C, XM_047416413.1:c.4547A>C, XM_047416428.1:c.2735A>C, XP_005270735.1:p.Lys1651Thr, XP_005270733.1:p.Lys1652Thr, XP_005270736.1:p.Lys1647Thr, XP_005270738.1:p.Lys1614Thr, XP_005270739.1:p.Lys1541Thr, XP_011539399.1:p.Lys1652Thr, XP_016856292.1:p.Lys1620Thr, XP_016856295.1:p.Lys1576Thr, XP_011539401.1:p.Lys1554Thr, XP_016856297.1:p.Lys1536Thr, XP_047272280.1:p.Lys1647Thr, XP_047272285.1:p.Lys1624Thr, XP_047272286.1:p.Lys1623Thr, XP_047272290.1:p.Lys1618Thr, XP_047272303.1:p.Lys1613Thr, XP_047272306.1:p.Lys1609Thr, XP_047272311.1:p.Lys1587Thr, XP_047272325.1:p.Lys1580Thr, XP_047272344.1:p.Lys1552Thr, XP_047272345.1:p.Lys1549Thr, XP_047272348.1:p.Lys1543Thr, XP_047272369.1:p.Lys1516Thr, XP_047272384.1:p.Lys912Thr

                          13.

                          rs1484162299 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:52525834 (GRCh38)
                            1:52991506 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:52525833:C:T
                            Gene:
                            TUT4 (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000001.11:g.52525834C>T, NC_000001.10:g.52991506C>T, XM_005270680.4:c.447G>A, XM_005270680.3:c.447G>A, XM_005270680.2:c.447G>A, XM_005270680.1:c.447G>A, NM_001009881.3:c.447G>A, NM_001009881.2:c.447G>A, XM_005270678.3:c.447G>A, XM_005270678.2:c.447G>A, XM_005270678.1:c.447G>A, XM_017000804.3:c.447G>A, XM_017000804.2:c.447G>A, XM_017000804.1:c.447G>A, XM_005270676.3:c.447G>A, XM_005270676.2:c.447G>A, XM_005270676.1:c.447G>A, XM_005270679.3:c.447G>A, XM_005270679.2:c.447G>A, XM_005270679.1:c.447G>A, XM_017000805.3:c.447G>A, XM_017000805.2:c.447G>A, XM_017000805.1:c.447G>A, XM_005270681.3:c.447G>A, XM_005270681.2:c.447G>A, XM_005270681.1:c.447G>A, XM_017000807.3:c.447G>A, XM_017000807.2:c.447G>A, XM_017000807.1:c.447G>A, XM_017000810.3:c.447G>A, XM_017000810.2:c.447G>A, XM_017000810.1:c.447G>A, XM_005270682.3:c.447G>A, XM_005270682.2:c.447G>A, XM_005270682.1:c.447G>A, NM_015269.2:c.447G>A, XM_011541097.2:c.447G>A, XM_011541097.1:c.447G>A, XM_017000803.2:c.447G>A, XM_017000803.1:c.447G>A, XM_017000806.2:c.447G>A, XM_017000806.1:c.447G>A, XM_011541099.2:c.447G>A, XM_011541099.1:c.447G>A, XM_017000808.2:c.447G>A, XM_017000808.1:c.447G>A, XM_017000818.2:c.447G>A, XM_017000818.1:c.447G>A, XM_047416325.1:c.447G>A, XM_047416326.1:c.447G>A, XM_047416327.1:c.447G>A, NM_001009882.1:c.447G>A, XM_047416324.1:c.447G>A, XM_047416332.1:c.447G>A, XM_047416339.1:c.447G>A, XM_047416340.1:c.447G>A, XM_047416349.1:c.447G>A, XM_047416351.1:c.447G>A, XM_047416329.1:c.447G>A, XM_047416330.1:c.447G>A, XM_047416334.1:c.447G>A, XM_047416364.1:c.447G>A, XM_047416371.1:c.447G>A, XM_047416347.1:c.447G>A, XM_047416380.1:c.447G>A, XM_047416381.1:c.447G>A, XM_047416350.1:c.447G>A, XM_047416355.1:c.447G>A, XM_047416369.1:c.447G>A, XM_047416394.1:c.447G>A, XM_047416398.1:c.447G>A, XM_047416406.1:c.447G>A, XM_047416409.1:c.447G>A, XM_047416411.1:c.447G>A, XM_047416388.1:c.447G>A, XM_047416389.1:c.447G>A, XM_047416392.1:c.447G>A, XM_047416416.1:c.447G>A, XM_047416417.1:c.447G>A, XM_047416421.1:c.447G>A, XM_047416413.1:c.447G>A

                            14.

                            rs1482025807 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:52475422 (GRCh38)
                              1:52941094 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:52475421:T:C
                              Gene:
                              TUT4 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.52475422T>C, NC_000001.10:g.52941094T>C, XM_005270680.4:c.2137A>G, XM_005270680.3:c.2137A>G, XM_005270680.2:c.2137A>G, XM_005270680.1:c.2137A>G, NM_001009881.3:c.2137A>G, NM_001009881.2:c.2137A>G, XM_005270678.3:c.2137A>G, XM_005270678.2:c.2137A>G, XM_005270678.1:c.2137A>G, XM_017000804.3:c.2056A>G, XM_017000804.2:c.2056A>G, XM_017000804.1:c.2056A>G, XM_005270676.3:c.2137A>G, XM_005270676.2:c.2137A>G, XM_005270676.1:c.2137A>G, XM_005270679.3:c.2137A>G, XM_005270679.2:c.2137A>G, XM_005270679.1:c.2137A>G, XM_017000805.3:c.2137A>G, XM_017000805.2:c.2137A>G, XM_017000805.1:c.2137A>G, XM_005270681.3:c.2137A>G, XM_005270681.2:c.2137A>G, XM_005270681.1:c.2137A>G, XM_017000807.3:c.1924A>G, XM_017000807.2:c.1924A>G, XM_017000807.1:c.1924A>G, XM_017000810.3:c.1804A>G, XM_017000810.2:c.1804A>G, XM_017000810.1:c.1804A>G, XM_005270682.3:c.1804A>G, XM_005270682.2:c.1804A>G, XM_005270682.1:c.1804A>G, NM_015269.2:c.2137A>G, XM_011541097.2:c.2137A>G, XM_011541097.1:c.2137A>G, XM_017000803.2:c.2056A>G, XM_017000803.1:c.2056A>G, XM_017000806.2:c.1924A>G, XM_017000806.1:c.1924A>G, XM_011541099.2:c.1843A>G, XM_011541099.1:c.1843A>G, XM_017000808.2:c.1804A>G, XM_017000808.1:c.1804A>G, XM_017000818.2:c.1804A>G, XM_017000818.1:c.1804A>G, XM_047416325.1:c.2137A>G, XM_047416326.1:c.2137A>G, XM_047416327.1:c.2137A>G, NM_001009882.1:c.2137A>G, XM_047416324.1:c.2137A>G, XM_047416332.1:c.2056A>G, XM_047416339.1:c.2137A>G, XM_047416340.1:c.2137A>G, XM_047416349.1:c.2137A>G, XM_047416351.1:c.2137A>G, XM_047416329.1:c.2056A>G, XM_047416330.1:c.2137A>G, XM_047416334.1:c.2137A>G, XM_047416364.1:c.2056A>G, XM_047416371.1:c.2056A>G, XM_047416347.1:c.2137A>G, XM_047416380.1:c.2056A>G, XM_047416381.1:c.1924A>G, XM_047416350.1:c.2137A>G, XM_047416355.1:c.2056A>G, XM_047416369.1:c.1924A>G, XM_047416394.1:c.1924A>G, XM_047416398.1:c.1924A>G, XM_047416406.1:c.1924A>G, XM_047416409.1:c.1804A>G, XM_047416411.1:c.1924A>G, XM_047416388.1:c.1924A>G, XM_047416389.1:c.1843A>G, XM_047416392.1:c.1924A>G, XM_047416416.1:c.1804A>G, XM_047416417.1:c.1804A>G, XM_047416421.1:c.1804A>G, XM_047416413.1:c.1843A>G, XM_047416428.1:c.-84A>G, XP_005270737.1:p.Lys713Glu, NP_001009881.1:p.Lys713Glu, XP_005270735.1:p.Lys713Glu, XP_016856293.1:p.Lys686Glu, XP_005270733.1:p.Lys713Glu, XP_005270736.1:p.Lys713Glu, XP_016856294.1:p.Lys713Glu, XP_005270738.1:p.Lys713Glu, XP_016856296.1:p.Lys642Glu, XP_016856299.1:p.Lys602Glu, XP_005270739.1:p.Lys602Glu, NP_056084.1:p.Lys713Glu, XP_011539399.1:p.Lys713Glu, XP_016856292.1:p.Lys686Glu, XP_016856295.1:p.Lys642Glu, XP_011539401.1:p.Lys615Glu, XP_016856297.1:p.Lys602Glu, XP_016856307.1:p.Lys602Glu, XP_047272281.1:p.Lys713Glu, XP_047272282.1:p.Lys713Glu, XP_047272283.1:p.Lys713Glu, XP_047272280.1:p.Lys713Glu, XP_047272288.1:p.Lys686Glu, XP_047272295.1:p.Lys713Glu, XP_047272296.1:p.Lys713Glu, XP_047272305.1:p.Lys713Glu, XP_047272307.1:p.Lys713Glu, XP_047272285.1:p.Lys686Glu, XP_047272286.1:p.Lys713Glu, XP_047272290.1:p.Lys713Glu, XP_047272320.1:p.Lys686Glu, XP_047272327.1:p.Lys686Glu, XP_047272303.1:p.Lys713Glu, XP_047272336.1:p.Lys686Glu, XP_047272337.1:p.Lys642Glu, XP_047272306.1:p.Lys713Glu, XP_047272311.1:p.Lys686Glu, XP_047272325.1:p.Lys642Glu, XP_047272350.1:p.Lys642Glu, XP_047272354.1:p.Lys642Glu, XP_047272362.1:p.Lys642Glu, XP_047272365.1:p.Lys602Glu, XP_047272367.1:p.Lys642Glu, XP_047272344.1:p.Lys642Glu, XP_047272345.1:p.Lys615Glu, XP_047272348.1:p.Lys642Glu, XP_047272372.1:p.Lys602Glu, XP_047272373.1:p.Lys602Glu, XP_047272377.1:p.Lys602Glu, XP_047272369.1:p.Lys615Glu

                              15.

                              rs1481912801 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:52431228 (GRCh38)
                                1:52896900 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:52431227:A:G
                                Gene:
                                TUT4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                HGVS:
                                NC_000001.11:g.52431228A>G, NC_000001.10:g.52896900A>G, XM_005270680.4:c.4481T>C, XM_005270680.3:c.4481T>C, XM_005270680.2:c.4481T>C, XM_005270680.1:c.4481T>C, NM_001009881.3:c.4496T>C, NM_001009881.2:c.4496T>C, XM_005270678.3:c.4493T>C, XM_005270678.2:c.4493T>C, XM_005270678.1:c.4493T>C, XM_017000804.3:c.4400T>C, XM_017000804.2:c.4400T>C, XM_017000804.1:c.4400T>C, XM_005270676.3:c.4496T>C, XM_005270676.2:c.4496T>C, XM_005270676.1:c.4496T>C, XM_005270679.3:c.4481T>C, XM_005270679.2:c.4481T>C, XM_005270679.1:c.4481T>C, XM_017000805.3:c.4367T>C, XM_017000805.2:c.4367T>C, XM_017000805.1:c.4367T>C, XM_005270681.3:c.4382T>C, XM_005270681.2:c.4382T>C, XM_005270681.1:c.4382T>C, XM_017000807.3:c.4268T>C, XM_017000807.2:c.4268T>C, XM_017000807.1:c.4268T>C, XM_017000810.3:c.4148T>C, XM_017000810.2:c.4148T>C, XM_017000810.1:c.4148T>C, XM_005270682.3:c.4163T>C, XM_005270682.2:c.4163T>C, XM_005270682.1:c.4163T>C, NM_015269.2:c.4493T>C, XM_011541097.2:c.4496T>C, XM_011541097.1:c.4496T>C, XM_017000803.2:c.4400T>C, XM_017000803.1:c.4400T>C, XM_017000806.2:c.4268T>C, XM_017000806.1:c.4268T>C, XM_011541099.2:c.4202T>C, XM_011541099.1:c.4202T>C, XM_017000808.2:c.4148T>C, XM_017000808.1:c.4148T>C, XM_047416325.1:c.4496T>C, XM_047416326.1:c.4493T>C, XM_047416327.1:c.4481T>C, NM_001009882.1:c.4481T>C, XM_047416324.1:c.4481T>C, XM_047416332.1:c.4415T>C, XM_047416339.1:c.4409T>C, XM_047416340.1:c.4406T>C, XM_047416349.1:c.4394T>C, XM_047416351.1:c.4379T>C, XM_047416329.1:c.4412T>C, XM_047416330.1:c.4409T>C, XM_047416334.1:c.4394T>C, XM_047416364.1:c.4301T>C, XM_047416371.1:c.4298T>C, XM_047416347.1:c.4379T>C, XM_047416380.1:c.4286T>C, XM_047416381.1:c.4280T>C, XM_047416350.1:c.4367T>C, XM_047416355.1:c.4301T>C, XM_047416369.1:c.4280T>C, XM_047416394.1:c.4181T>C, XM_047416398.1:c.4169T>C, XM_047416406.1:c.4166T>C, XM_047416409.1:c.4160T>C, XM_047416411.1:c.4154T>C, XM_047416388.1:c.4196T>C, XM_047416389.1:c.4187T>C, XM_047416392.1:c.4169T>C, XM_047416416.1:c.4073T>C, XM_047416417.1:c.4049T>C, XM_047416421.1:c.4034T>C, XM_047416413.1:c.4088T>C, XM_047416428.1:c.2276T>C, XP_005270737.1:p.Leu1494Pro, NP_001009881.1:p.Leu1499Pro, XP_005270735.1:p.Leu1498Pro, XP_016856293.1:p.Leu1467Pro, XP_005270733.1:p.Leu1499Pro, XP_005270736.1:p.Leu1494Pro, XP_016856294.1:p.Leu1456Pro, XP_005270738.1:p.Leu1461Pro, XP_016856296.1:p.Leu1423Pro, XP_016856299.1:p.Leu1383Pro, XP_005270739.1:p.Leu1388Pro, NP_056084.1:p.Leu1498Pro, XP_011539399.1:p.Leu1499Pro, XP_016856292.1:p.Leu1467Pro, XP_016856295.1:p.Leu1423Pro, XP_011539401.1:p.Leu1401Pro, XP_016856297.1:p.Leu1383Pro, XP_047272281.1:p.Leu1499Pro, XP_047272282.1:p.Leu1498Pro, XP_047272283.1:p.Leu1494Pro, XP_047272280.1:p.Leu1494Pro, XP_047272288.1:p.Leu1472Pro, XP_047272295.1:p.Leu1470Pro, XP_047272296.1:p.Leu1469Pro, XP_047272305.1:p.Leu1465Pro, XP_047272307.1:p.Leu1460Pro, XP_047272285.1:p.Leu1471Pro, XP_047272286.1:p.Leu1470Pro, XP_047272290.1:p.Leu1465Pro, XP_047272320.1:p.Leu1434Pro, XP_047272327.1:p.Leu1433Pro, XP_047272303.1:p.Leu1460Pro, XP_047272336.1:p.Leu1429Pro, XP_047272337.1:p.Leu1427Pro, XP_047272306.1:p.Leu1456Pro, XP_047272311.1:p.Leu1434Pro, XP_047272325.1:p.Leu1427Pro, XP_047272350.1:p.Leu1394Pro, XP_047272354.1:p.Leu1390Pro, XP_047272362.1:p.Leu1389Pro, XP_047272365.1:p.Leu1387Pro, XP_047272367.1:p.Leu1385Pro, XP_047272344.1:p.Leu1399Pro, XP_047272345.1:p.Leu1396Pro, XP_047272348.1:p.Leu1390Pro, XP_047272372.1:p.Leu1358Pro, XP_047272373.1:p.Leu1350Pro, XP_047272377.1:p.Leu1345Pro, XP_047272369.1:p.Leu1363Pro, XP_047272384.1:p.Leu759Pro

                                16.

                                rs1481470527 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:52525670 (GRCh38)
                                  1:52991342 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:52525669:C:T
                                  Gene:
                                  TUT4 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.52525670C>T, NC_000001.10:g.52991342C>T, XM_005270680.4:c.611G>A, XM_005270680.3:c.611G>A, XM_005270680.2:c.611G>A, XM_005270680.1:c.611G>A, NM_001009881.3:c.611G>A, NM_001009881.2:c.611G>A, XM_005270678.3:c.611G>A, XM_005270678.2:c.611G>A, XM_005270678.1:c.611G>A, XM_017000804.3:c.611G>A, XM_017000804.2:c.611G>A, XM_017000804.1:c.611G>A, XM_005270676.3:c.611G>A, XM_005270676.2:c.611G>A, XM_005270676.1:c.611G>A, XM_005270679.3:c.611G>A, XM_005270679.2:c.611G>A, XM_005270679.1:c.611G>A, XM_017000805.3:c.611G>A, XM_017000805.2:c.611G>A, XM_017000805.1:c.611G>A, XM_005270681.3:c.611G>A, XM_005270681.2:c.611G>A, XM_005270681.1:c.611G>A, XM_017000807.3:c.611G>A, XM_017000807.2:c.611G>A, XM_017000807.1:c.611G>A, XM_017000810.3:c.611G>A, XM_017000810.2:c.611G>A, XM_017000810.1:c.611G>A, XM_005270682.3:c.611G>A, XM_005270682.2:c.611G>A, XM_005270682.1:c.611G>A, NM_015269.2:c.611G>A, XM_011541097.2:c.611G>A, XM_011541097.1:c.611G>A, XM_017000803.2:c.611G>A, XM_017000803.1:c.611G>A, XM_017000806.2:c.611G>A, XM_017000806.1:c.611G>A, XM_011541099.2:c.611G>A, XM_011541099.1:c.611G>A, XM_017000808.2:c.611G>A, XM_017000808.1:c.611G>A, XM_017000818.2:c.611G>A, XM_017000818.1:c.611G>A, XM_047416325.1:c.611G>A, XM_047416326.1:c.611G>A, XM_047416327.1:c.611G>A, NM_001009882.1:c.611G>A, XM_047416324.1:c.611G>A, XM_047416332.1:c.611G>A, XM_047416339.1:c.611G>A, XM_047416340.1:c.611G>A, XM_047416349.1:c.611G>A, XM_047416351.1:c.611G>A, XM_047416329.1:c.611G>A, XM_047416330.1:c.611G>A, XM_047416334.1:c.611G>A, XM_047416364.1:c.611G>A, XM_047416371.1:c.611G>A, XM_047416347.1:c.611G>A, XM_047416380.1:c.611G>A, XM_047416381.1:c.611G>A, XM_047416350.1:c.611G>A, XM_047416355.1:c.611G>A, XM_047416369.1:c.611G>A, XM_047416394.1:c.611G>A, XM_047416398.1:c.611G>A, XM_047416406.1:c.611G>A, XM_047416409.1:c.611G>A, XM_047416411.1:c.611G>A, XM_047416388.1:c.611G>A, XM_047416389.1:c.611G>A, XM_047416392.1:c.611G>A, XM_047416416.1:c.611G>A, XM_047416417.1:c.611G>A, XM_047416421.1:c.611G>A, XM_047416413.1:c.611G>A, XP_005270737.1:p.Cys204Tyr, NP_001009881.1:p.Cys204Tyr, XP_005270735.1:p.Cys204Tyr, XP_016856293.1:p.Cys204Tyr, XP_005270733.1:p.Cys204Tyr, XP_005270736.1:p.Cys204Tyr, XP_016856294.1:p.Cys204Tyr, XP_005270738.1:p.Cys204Tyr, XP_016856296.1:p.Cys204Tyr, XP_016856299.1:p.Cys204Tyr, XP_005270739.1:p.Cys204Tyr, NP_056084.1:p.Cys204Tyr, XP_011539399.1:p.Cys204Tyr, XP_016856292.1:p.Cys204Tyr, XP_016856295.1:p.Cys204Tyr, XP_011539401.1:p.Cys204Tyr, XP_016856297.1:p.Cys204Tyr, XP_016856307.1:p.Cys204Tyr, XP_047272281.1:p.Cys204Tyr, XP_047272282.1:p.Cys204Tyr, XP_047272283.1:p.Cys204Tyr, XP_047272280.1:p.Cys204Tyr, XP_047272288.1:p.Cys204Tyr, XP_047272295.1:p.Cys204Tyr, XP_047272296.1:p.Cys204Tyr, XP_047272305.1:p.Cys204Tyr, XP_047272307.1:p.Cys204Tyr, XP_047272285.1:p.Cys204Tyr, XP_047272286.1:p.Cys204Tyr, XP_047272290.1:p.Cys204Tyr, XP_047272320.1:p.Cys204Tyr, XP_047272327.1:p.Cys204Tyr, XP_047272303.1:p.Cys204Tyr, XP_047272336.1:p.Cys204Tyr, XP_047272337.1:p.Cys204Tyr, XP_047272306.1:p.Cys204Tyr, XP_047272311.1:p.Cys204Tyr, XP_047272325.1:p.Cys204Tyr, XP_047272350.1:p.Cys204Tyr, XP_047272354.1:p.Cys204Tyr, XP_047272362.1:p.Cys204Tyr, XP_047272365.1:p.Cys204Tyr, XP_047272367.1:p.Cys204Tyr, XP_047272344.1:p.Cys204Tyr, XP_047272345.1:p.Cys204Tyr, XP_047272348.1:p.Cys204Tyr, XP_047272372.1:p.Cys204Tyr, XP_047272373.1:p.Cys204Tyr, XP_047272377.1:p.Cys204Tyr, XP_047272369.1:p.Cys204Tyr

                                  17.

                                  rs1480821461 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    1:52525665 (GRCh38)
                                    1:52991337 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:52525664:G:C
                                    Gene:
                                    TUT4 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    NC_000001.11:g.52525665G>C, NC_000001.10:g.52991337G>C, XM_005270680.4:c.616C>G, XM_005270680.3:c.616C>G, XM_005270680.2:c.616C>G, XM_005270680.1:c.616C>G, NM_001009881.3:c.616C>G, NM_001009881.2:c.616C>G, XM_005270678.3:c.616C>G, XM_005270678.2:c.616C>G, XM_005270678.1:c.616C>G, XM_017000804.3:c.616C>G, XM_017000804.2:c.616C>G, XM_017000804.1:c.616C>G, XM_005270676.3:c.616C>G, XM_005270676.2:c.616C>G, XM_005270676.1:c.616C>G, XM_005270679.3:c.616C>G, XM_005270679.2:c.616C>G, XM_005270679.1:c.616C>G, XM_017000805.3:c.616C>G, XM_017000805.2:c.616C>G, XM_017000805.1:c.616C>G, XM_005270681.3:c.616C>G, XM_005270681.2:c.616C>G, XM_005270681.1:c.616C>G, XM_017000807.3:c.616C>G, XM_017000807.2:c.616C>G, XM_017000807.1:c.616C>G, XM_017000810.3:c.616C>G, XM_017000810.2:c.616C>G, XM_017000810.1:c.616C>G, XM_005270682.3:c.616C>G, XM_005270682.2:c.616C>G, XM_005270682.1:c.616C>G, NM_015269.2:c.616C>G, XM_011541097.2:c.616C>G, XM_011541097.1:c.616C>G, XM_017000803.2:c.616C>G, XM_017000803.1:c.616C>G, XM_017000806.2:c.616C>G, XM_017000806.1:c.616C>G, XM_011541099.2:c.616C>G, XM_011541099.1:c.616C>G, XM_017000808.2:c.616C>G, XM_017000808.1:c.616C>G, XM_017000818.2:c.616C>G, XM_017000818.1:c.616C>G, XM_047416325.1:c.616C>G, XM_047416326.1:c.616C>G, XM_047416327.1:c.616C>G, NM_001009882.1:c.616C>G, XM_047416324.1:c.616C>G, XM_047416332.1:c.616C>G, XM_047416339.1:c.616C>G, XM_047416340.1:c.616C>G, XM_047416349.1:c.616C>G, XM_047416351.1:c.616C>G, XM_047416329.1:c.616C>G, XM_047416330.1:c.616C>G, XM_047416334.1:c.616C>G, XM_047416364.1:c.616C>G, XM_047416371.1:c.616C>G, XM_047416347.1:c.616C>G, XM_047416380.1:c.616C>G, XM_047416381.1:c.616C>G, XM_047416350.1:c.616C>G, XM_047416355.1:c.616C>G, XM_047416369.1:c.616C>G, XM_047416394.1:c.616C>G, XM_047416398.1:c.616C>G, XM_047416406.1:c.616C>G, XM_047416409.1:c.616C>G, XM_047416411.1:c.616C>G, XM_047416388.1:c.616C>G, XM_047416389.1:c.616C>G, XM_047416392.1:c.616C>G, XM_047416416.1:c.616C>G, XM_047416417.1:c.616C>G, XM_047416421.1:c.616C>G, XM_047416413.1:c.616C>G, XP_005270737.1:p.Leu206Val, NP_001009881.1:p.Leu206Val, XP_005270735.1:p.Leu206Val, XP_016856293.1:p.Leu206Val, XP_005270733.1:p.Leu206Val, XP_005270736.1:p.Leu206Val, XP_016856294.1:p.Leu206Val, XP_005270738.1:p.Leu206Val, XP_016856296.1:p.Leu206Val, XP_016856299.1:p.Leu206Val, XP_005270739.1:p.Leu206Val, NP_056084.1:p.Leu206Val, XP_011539399.1:p.Leu206Val, XP_016856292.1:p.Leu206Val, XP_016856295.1:p.Leu206Val, XP_011539401.1:p.Leu206Val, XP_016856297.1:p.Leu206Val, XP_016856307.1:p.Leu206Val, XP_047272281.1:p.Leu206Val, XP_047272282.1:p.Leu206Val, XP_047272283.1:p.Leu206Val, XP_047272280.1:p.Leu206Val, XP_047272288.1:p.Leu206Val, XP_047272295.1:p.Leu206Val, XP_047272296.1:p.Leu206Val, XP_047272305.1:p.Leu206Val, XP_047272307.1:p.Leu206Val, XP_047272285.1:p.Leu206Val, XP_047272286.1:p.Leu206Val, XP_047272290.1:p.Leu206Val, XP_047272320.1:p.Leu206Val, XP_047272327.1:p.Leu206Val, XP_047272303.1:p.Leu206Val, XP_047272336.1:p.Leu206Val, XP_047272337.1:p.Leu206Val, XP_047272306.1:p.Leu206Val, XP_047272311.1:p.Leu206Val, XP_047272325.1:p.Leu206Val, XP_047272350.1:p.Leu206Val, XP_047272354.1:p.Leu206Val, XP_047272362.1:p.Leu206Val, XP_047272365.1:p.Leu206Val, XP_047272367.1:p.Leu206Val, XP_047272344.1:p.Leu206Val, XP_047272345.1:p.Leu206Val, XP_047272348.1:p.Leu206Val, XP_047272372.1:p.Leu206Val, XP_047272373.1:p.Leu206Val, XP_047272377.1:p.Leu206Val, XP_047272369.1:p.Leu206Val

                                    18.

                                    rs1480404584 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:52488958 (GRCh38)
                                      1:52954630 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:52488957:A:G
                                      Gene:
                                      TUT4 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,coding_sequence_variant,missense_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_000001.11:g.52488958A>G, NC_000001.10:g.52954630A>G, XM_005270680.4:c.1466T>C, XM_005270680.3:c.1466T>C, XM_005270680.2:c.1466T>C, XM_005270680.1:c.1466T>C, NM_001009881.3:c.1466T>C, NM_001009881.2:c.1466T>C, XM_005270678.3:c.1466T>C, XM_005270678.2:c.1466T>C, XM_005270678.1:c.1466T>C, XM_017000804.3:c.1466T>C, XM_017000804.2:c.1466T>C, XM_017000804.1:c.1466T>C, XM_005270676.3:c.1466T>C, XM_005270676.2:c.1466T>C, XM_005270676.1:c.1466T>C, XM_005270679.3:c.1466T>C, XM_005270679.2:c.1466T>C, XM_005270679.1:c.1466T>C, XM_017000805.3:c.1466T>C, XM_017000805.2:c.1466T>C, XM_017000805.1:c.1466T>C, XM_005270681.3:c.1466T>C, XM_005270681.2:c.1466T>C, XM_005270681.1:c.1466T>C, XM_017000807.3:c.1466T>C, XM_017000807.2:c.1466T>C, XM_017000807.1:c.1466T>C, XM_017000810.3:c.1466T>C, XM_017000810.2:c.1466T>C, XM_017000810.1:c.1466T>C, XM_005270682.3:c.1466T>C, XM_005270682.2:c.1466T>C, XM_005270682.1:c.1466T>C, NM_015269.2:c.1466T>C, XM_011541097.2:c.1466T>C, XM_011541097.1:c.1466T>C, XM_017000803.2:c.1466T>C, XM_017000803.1:c.1466T>C, XM_017000806.2:c.1466T>C, XM_017000806.1:c.1466T>C, XM_011541099.2:c.1466T>C, XM_011541099.1:c.1466T>C, XM_017000808.2:c.1466T>C, XM_017000808.1:c.1466T>C, XM_017000818.2:c.1466T>C, XM_017000818.1:c.1466T>C, XM_047416325.1:c.1466T>C, XM_047416326.1:c.1466T>C, XM_047416327.1:c.1466T>C, NM_001009882.1:c.1466T>C, XM_047416324.1:c.1466T>C, XM_047416332.1:c.1466T>C, XM_047416339.1:c.1466T>C, XM_047416340.1:c.1466T>C, XM_047416349.1:c.1466T>C, XM_047416351.1:c.1466T>C, XM_047416329.1:c.1466T>C, XM_047416330.1:c.1466T>C, XM_047416334.1:c.1466T>C, XM_047416364.1:c.1466T>C, XM_047416371.1:c.1466T>C, XM_047416347.1:c.1466T>C, XM_047416380.1:c.1466T>C, XM_047416381.1:c.1466T>C, XM_047416350.1:c.1466T>C, XM_047416355.1:c.1466T>C, XM_047416369.1:c.1466T>C, XM_047416394.1:c.1466T>C, XM_047416398.1:c.1466T>C, XM_047416406.1:c.1466T>C, XM_047416409.1:c.1466T>C, XM_047416411.1:c.1466T>C, XM_047416388.1:c.1466T>C, XM_047416389.1:c.1466T>C, XM_047416392.1:c.1466T>C, XM_047416416.1:c.1466T>C, XM_047416417.1:c.1466T>C, XM_047416421.1:c.1466T>C, XM_047416413.1:c.1466T>C, XP_005270737.1:p.Ile489Thr, NP_001009881.1:p.Ile489Thr, XP_005270735.1:p.Ile489Thr, XP_016856293.1:p.Ile489Thr, XP_005270733.1:p.Ile489Thr, XP_005270736.1:p.Ile489Thr, XP_016856294.1:p.Ile489Thr, XP_005270738.1:p.Ile489Thr, XP_016856296.1:p.Ile489Thr, XP_016856299.1:p.Ile489Thr, XP_005270739.1:p.Ile489Thr, NP_056084.1:p.Ile489Thr, XP_011539399.1:p.Ile489Thr, XP_016856292.1:p.Ile489Thr, XP_016856295.1:p.Ile489Thr, XP_011539401.1:p.Ile489Thr, XP_016856297.1:p.Ile489Thr, XP_016856307.1:p.Ile489Thr, XP_047272281.1:p.Ile489Thr, XP_047272282.1:p.Ile489Thr, XP_047272283.1:p.Ile489Thr, XP_047272280.1:p.Ile489Thr, XP_047272288.1:p.Ile489Thr, XP_047272295.1:p.Ile489Thr, XP_047272296.1:p.Ile489Thr, XP_047272305.1:p.Ile489Thr, XP_047272307.1:p.Ile489Thr, XP_047272285.1:p.Ile489Thr, XP_047272286.1:p.Ile489Thr, XP_047272290.1:p.Ile489Thr, XP_047272320.1:p.Ile489Thr, XP_047272327.1:p.Ile489Thr, XP_047272303.1:p.Ile489Thr, XP_047272336.1:p.Ile489Thr, XP_047272337.1:p.Ile489Thr, XP_047272306.1:p.Ile489Thr, XP_047272311.1:p.Ile489Thr, XP_047272325.1:p.Ile489Thr, XP_047272350.1:p.Ile489Thr, XP_047272354.1:p.Ile489Thr, XP_047272362.1:p.Ile489Thr, XP_047272365.1:p.Ile489Thr, XP_047272367.1:p.Ile489Thr, XP_047272344.1:p.Ile489Thr, XP_047272345.1:p.Ile489Thr, XP_047272348.1:p.Ile489Thr, XP_047272372.1:p.Ile489Thr, XP_047272373.1:p.Ile489Thr, XP_047272377.1:p.Ile489Thr, XP_047272369.1:p.Ile489Thr

                                      19.

                                      rs1479655117 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:52475204 (GRCh38)
                                        1:52940876 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:52475203:T:C
                                        Gene:
                                        TUT4 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.52475204T>C, NC_000001.10:g.52940876T>C, XM_005270680.4:c.2355A>G, XM_005270680.3:c.2355A>G, XM_005270680.2:c.2355A>G, XM_005270680.1:c.2355A>G, NM_001009881.3:c.2355A>G, NM_001009881.2:c.2355A>G, XM_005270678.3:c.2355A>G, XM_005270678.2:c.2355A>G, XM_005270678.1:c.2355A>G, XM_017000804.3:c.2274A>G, XM_017000804.2:c.2274A>G, XM_017000804.1:c.2274A>G, XM_005270676.3:c.2355A>G, XM_005270676.2:c.2355A>G, XM_005270676.1:c.2355A>G, XM_005270679.3:c.2355A>G, XM_005270679.2:c.2355A>G, XM_005270679.1:c.2355A>G, XM_017000805.3:c.2355A>G, XM_017000805.2:c.2355A>G, XM_017000805.1:c.2355A>G, XM_005270681.3:c.2355A>G, XM_005270681.2:c.2355A>G, XM_005270681.1:c.2355A>G, XM_017000807.3:c.2142A>G, XM_017000807.2:c.2142A>G, XM_017000807.1:c.2142A>G, XM_017000810.3:c.2022A>G, XM_017000810.2:c.2022A>G, XM_017000810.1:c.2022A>G, XM_005270682.3:c.2022A>G, XM_005270682.2:c.2022A>G, XM_005270682.1:c.2022A>G, NM_015269.2:c.2355A>G, XM_011541097.2:c.2355A>G, XM_011541097.1:c.2355A>G, XM_017000803.2:c.2274A>G, XM_017000803.1:c.2274A>G, XM_017000806.2:c.2142A>G, XM_017000806.1:c.2142A>G, XM_011541099.2:c.2061A>G, XM_011541099.1:c.2061A>G, XM_017000808.2:c.2022A>G, XM_017000808.1:c.2022A>G, XM_017000818.2:c.2022A>G, XM_017000818.1:c.2022A>G, XM_047416325.1:c.2355A>G, XM_047416326.1:c.2355A>G, XM_047416327.1:c.2355A>G, NM_001009882.1:c.2355A>G, XM_047416324.1:c.2355A>G, XM_047416332.1:c.2274A>G, XM_047416339.1:c.2355A>G, XM_047416340.1:c.2355A>G, XM_047416349.1:c.2355A>G, XM_047416351.1:c.2355A>G, XM_047416329.1:c.2274A>G, XM_047416330.1:c.2355A>G, XM_047416334.1:c.2355A>G, XM_047416364.1:c.2274A>G, XM_047416371.1:c.2274A>G, XM_047416347.1:c.2355A>G, XM_047416380.1:c.2274A>G, XM_047416381.1:c.2142A>G, XM_047416350.1:c.2355A>G, XM_047416355.1:c.2274A>G, XM_047416369.1:c.2142A>G, XM_047416394.1:c.2142A>G, XM_047416398.1:c.2142A>G, XM_047416406.1:c.2142A>G, XM_047416409.1:c.2022A>G, XM_047416411.1:c.2142A>G, XM_047416388.1:c.2142A>G, XM_047416389.1:c.2061A>G, XM_047416392.1:c.2142A>G, XM_047416416.1:c.2022A>G, XM_047416417.1:c.2022A>G, XM_047416421.1:c.2022A>G, XM_047416413.1:c.2061A>G, XM_047416428.1:c.135A>G

                                        20.

                                        rs1479059943 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          1:52446441 (GRCh38)
                                          1:52912113 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:52446440:T:A
                                          Gene:
                                          TUT4 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000005/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.52446441T>A, NC_000001.10:g.52912113T>A, XM_005270680.4:c.3515A>T, XM_005270680.3:c.3515A>T, XM_005270680.2:c.3515A>T, XM_005270680.1:c.3515A>T, NM_001009881.3:c.3515A>T, NM_001009881.2:c.3515A>T, XM_005270678.3:c.3515A>T, XM_005270678.2:c.3515A>T, XM_005270678.1:c.3515A>T, XM_017000804.3:c.3434A>T, XM_017000804.2:c.3434A>T, XM_017000804.1:c.3434A>T, XM_005270676.3:c.3515A>T, XM_005270676.2:c.3515A>T, XM_005270676.1:c.3515A>T, XM_005270679.3:c.3515A>T, XM_005270679.2:c.3515A>T, XM_005270679.1:c.3515A>T, XM_017000805.3:c.3401A>T, XM_017000805.2:c.3401A>T, XM_017000805.1:c.3401A>T, XM_005270681.3:c.3401A>T, XM_005270681.2:c.3401A>T, XM_005270681.1:c.3401A>T, XM_017000807.3:c.3302A>T, XM_017000807.2:c.3302A>T, XM_017000807.1:c.3302A>T, XM_017000810.3:c.3182A>T, XM_017000810.2:c.3182A>T, XM_017000810.1:c.3182A>T, XM_005270682.3:c.3182A>T, XM_005270682.2:c.3182A>T, XM_005270682.1:c.3182A>T, NM_015269.2:c.3515A>T, XM_011541097.2:c.3515A>T, XM_011541097.1:c.3515A>T, XM_017000803.2:c.3434A>T, XM_017000803.1:c.3434A>T, XM_017000806.2:c.3302A>T, XM_017000806.1:c.3302A>T, XM_011541099.2:c.3221A>T, XM_011541099.1:c.3221A>T, XM_017000808.2:c.3182A>T, XM_017000808.1:c.3182A>T, XM_047416325.1:c.3515A>T, XM_047416326.1:c.3515A>T, XM_047416327.1:c.3515A>T, NM_001009882.1:c.3515A>T, XM_047416324.1:c.3515A>T, XM_047416332.1:c.3434A>T, XM_047416339.1:c.3428A>T, XM_047416340.1:c.3428A>T, XM_047416349.1:c.3428A>T, XM_047416351.1:c.3401A>T, XM_047416329.1:c.3434A>T, XM_047416330.1:c.3428A>T, XM_047416334.1:c.3428A>T, XM_047416364.1:c.3320A>T, XM_047416371.1:c.3320A>T, XM_047416347.1:c.3401A>T, XM_047416380.1:c.3320A>T, XM_047416381.1:c.3302A>T, XM_047416350.1:c.3401A>T, XM_047416355.1:c.3320A>T, XM_047416369.1:c.3302A>T, XM_047416394.1:c.3215A>T, XM_047416398.1:c.3188A>T, XM_047416406.1:c.3188A>T, XM_047416409.1:c.3182A>T, XM_047416411.1:c.3188A>T, XM_047416388.1:c.3215A>T, XM_047416389.1:c.3221A>T, XM_047416392.1:c.3188A>T, XM_047416416.1:c.3095A>T, XM_047416417.1:c.3068A>T, XM_047416421.1:c.3068A>T, XM_047416413.1:c.3107A>T, XM_047416428.1:c.1295A>T, XP_005270737.1:p.Lys1172Ile, NP_001009881.1:p.Lys1172Ile, XP_005270735.1:p.Lys1172Ile, XP_016856293.1:p.Lys1145Ile, XP_005270733.1:p.Lys1172Ile, XP_005270736.1:p.Lys1172Ile, XP_016856294.1:p.Lys1134Ile, XP_005270738.1:p.Lys1134Ile, XP_016856296.1:p.Lys1101Ile, XP_016856299.1:p.Lys1061Ile, XP_005270739.1:p.Lys1061Ile, NP_056084.1:p.Lys1172Ile, XP_011539399.1:p.Lys1172Ile, XP_016856292.1:p.Lys1145Ile, XP_016856295.1:p.Lys1101Ile, XP_011539401.1:p.Lys1074Ile, XP_016856297.1:p.Lys1061Ile, XP_047272281.1:p.Lys1172Ile, XP_047272282.1:p.Lys1172Ile, XP_047272283.1:p.Lys1172Ile, XP_047272280.1:p.Lys1172Ile, XP_047272288.1:p.Lys1145Ile, XP_047272295.1:p.Lys1143Ile, XP_047272296.1:p.Lys1143Ile, XP_047272305.1:p.Lys1143Ile, XP_047272307.1:p.Lys1134Ile, XP_047272285.1:p.Lys1145Ile, XP_047272286.1:p.Lys1143Ile, XP_047272290.1:p.Lys1143Ile, XP_047272320.1:p.Lys1107Ile, XP_047272327.1:p.Lys1107Ile, XP_047272303.1:p.Lys1134Ile, XP_047272336.1:p.Lys1107Ile, XP_047272337.1:p.Lys1101Ile, XP_047272306.1:p.Lys1134Ile, XP_047272311.1:p.Lys1107Ile, XP_047272325.1:p.Lys1101Ile, XP_047272350.1:p.Lys1072Ile, XP_047272354.1:p.Lys1063Ile, XP_047272362.1:p.Lys1063Ile, XP_047272365.1:p.Lys1061Ile, XP_047272367.1:p.Lys1063Ile, XP_047272344.1:p.Lys1072Ile, XP_047272345.1:p.Lys1074Ile, XP_047272348.1:p.Lys1063Ile, XP_047272372.1:p.Lys1032Ile, XP_047272373.1:p.Lys1023Ile, XP_047272377.1:p.Lys1023Ile, XP_047272369.1:p.Lys1036Ile, XP_047272384.1:p.Lys432Ile

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