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Items: 1 to 20 of 672

1.

rs1490481261 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    7:103027555 (GRCh38)
    7:102668002 (GRCh37)
    Canonical SPDI:
    NC_000007.14:103027554:A:G
    Gene:
    FBXL13 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
    Validated:
    by frequency
    MAF:
    G=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.103027555A>G, NC_000007.13:g.102668002A>G, XM_005250207.5:c.491T>C, XM_005250207.4:c.491T>C, XM_005250207.3:c.491T>C, XM_005250207.2:c.491T>C, XM_005250207.1:c.491T>C, XM_005250208.5:c.491T>C, XM_005250208.4:c.491T>C, XM_005250208.3:c.491T>C, XM_005250208.2:c.491T>C, XM_005250208.1:c.491T>C, XM_011515929.4:c.491T>C, XM_011515929.3:c.491T>C, XM_011515929.2:c.491T>C, XM_011515929.1:c.491T>C, XM_011515928.4:c.491T>C, XM_011515928.3:c.491T>C, XM_011515928.2:c.491T>C, XM_011515928.1:c.491T>C, XR_927410.4:n.517T>C, XR_927410.3:n.937T>C, XR_927410.2:n.554T>C, XR_927410.1:n.494T>C, XM_011515932.4:c.491T>C, XM_011515932.3:c.491T>C, XM_011515932.2:c.491T>C, XM_011515932.1:c.491T>C, XM_011515930.3:c.221T>C, XM_011515930.2:c.221T>C, XM_011515930.1:c.221T>C, XM_017011850.3:c.482T>C, XM_017011850.2:c.482T>C, XM_017011850.1:c.482T>C, NM_145032.3:c.221T>C, XM_017011851.3:c.491T>C, XM_017011851.2:c.491T>C, XM_017011851.1:c.491T>C, XM_017011852.2:c.356T>C, XM_017011852.1:c.356T>C, NM_001394494.2:c.491T>C, NM_001394494.1:c.491T>C, XM_017011853.2:c.221T>C, XM_017011853.1:c.221T>C, NR_105043.2:n.517T>C, NR_105043.1:n.562T>C, NM_001287150.2:c.221T>C, NM_001287150.1:c.221T>C, NM_001111038.2:c.221T>C, NM_001111038.1:c.221T>C, XM_047420043.1:c.491T>C, XM_047420044.1:c.-335T>C, XP_005250264.1:p.Ile164Thr, XP_005250265.1:p.Ile164Thr, XP_011514231.1:p.Ile164Thr, XP_011514230.1:p.Ile164Thr, XP_011514234.1:p.Ile164Thr, XP_011514232.1:p.Ile74Thr, XP_016867339.1:p.Ile161Thr, NP_659469.3:p.Ile74Thr, XP_016867340.1:p.Ile164Thr, XP_016867341.1:p.Ile119Thr, NP_001381423.1:p.Ile164Thr, XP_016867342.1:p.Ile74Thr, NP_001274079.1:p.Ile74Thr, NP_001104508.1:p.Ile74Thr, XP_047275999.1:p.Ile164Thr

    2.

    rs1488345630 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      7:102883610 (GRCh38)
      7:102524057 (GRCh37)
      Canonical SPDI:
      NC_000007.14:102883609:T:C
      Gene:
      FBXL13 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000007.14:g.102883610T>C, NC_000007.13:g.102524057T>C, XM_005250207.5:c.1354A>G, XM_005250207.4:c.1354A>G, XM_005250207.3:c.1354A>G, XM_005250207.2:c.1354A>G, XM_005250207.1:c.1354A>G, XM_005250208.5:c.1453A>G, XM_005250208.4:c.1453A>G, XM_005250208.3:c.1453A>G, XM_005250208.2:c.1453A>G, XM_005250208.1:c.1453A>G, XM_011515929.4:c.1453A>G, XM_011515929.3:c.1453A>G, XM_011515929.2:c.1453A>G, XM_011515929.1:c.1453A>G, XM_011515928.4:c.1453A>G, XM_011515928.3:c.1453A>G, XM_011515928.2:c.1453A>G, XM_011515928.1:c.1453A>G, XM_006715898.4:c.730A>G, XM_006715898.3:c.730A>G, XM_006715898.2:c.730A>G, XM_006715898.1:c.730A>G, XR_927410.4:n.1479A>G, XR_927410.3:n.1899A>G, XR_927410.2:n.1516A>G, XR_927410.1:n.1456A>G, XM_011515932.4:c.1453A>G, XM_011515932.3:c.1453A>G, XM_011515932.2:c.1453A>G, XM_011515932.1:c.1453A>G, XM_011515930.3:c.1183A>G, XM_011515930.2:c.1183A>G, XM_011515930.1:c.1183A>G, XM_017011850.3:c.1444A>G, XM_017011850.2:c.1444A>G, XM_017011850.1:c.1444A>G, NM_145032.3:c.1183A>G, XM_017011851.3:c.1453A>G, XM_017011851.2:c.1453A>G, XM_017011851.1:c.1453A>G, XM_017011852.2:c.1318A>G, XM_017011852.1:c.1318A>G, NM_001394494.2:c.1453A>G, NM_001394494.1:c.1453A>G, XM_017011853.2:c.1183A>G, XM_017011853.1:c.1183A>G, XM_024446687.2:c.730A>G, XM_024446687.1:c.730A>G, NR_105043.2:n.1479A>G, NR_105043.1:n.1524A>G, NM_001287150.2:c.1183A>G, NM_001287150.1:c.1183A>G, NM_001111038.2:c.1183A>G, NM_001111038.1:c.1183A>G, XM_047420043.1:c.1453A>G, XM_047420044.1:c.628A>G, XM_047420045.1:c.631A>G, XP_005250264.1:p.Arg452Gly, XP_005250265.1:p.Arg485Gly, XP_011514231.1:p.Arg485Gly, XP_011514230.1:p.Arg485Gly, XP_006715961.1:p.Arg244Gly, XP_011514234.1:p.Arg485Gly, XP_011514232.1:p.Arg395Gly, XP_016867339.1:p.Arg482Gly, NP_659469.3:p.Arg395Gly, XP_016867340.1:p.Arg485Gly, XP_016867341.1:p.Arg440Gly, NP_001381423.1:p.Arg485Gly, XP_016867342.1:p.Arg395Gly, XP_024302455.1:p.Arg244Gly, NP_001274079.1:p.Arg395Gly, NP_001104508.1:p.Arg395Gly, XP_047275999.1:p.Arg485Gly, XP_047276000.1:p.Arg210Gly, XP_047276001.1:p.Arg211Gly

      3.

      rs1487228589 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        7:102884221 (GRCh38)
        7:102524668 (GRCh37)
        Canonical SPDI:
        NC_000007.14:102884220:C:T
        Gene:
        FBXL13 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0.00007/1 (ALFA)
        HGVS:
        NC_000007.14:g.102884221C>T, NC_000007.13:g.102524668C>T, XM_005250208.5:c.1370G>A, XM_005250208.4:c.1370G>A, XM_005250208.3:c.1370G>A, XM_005250208.2:c.1370G>A, XM_005250208.1:c.1370G>A, XM_011515929.4:c.1370G>A, XM_011515929.3:c.1370G>A, XM_011515929.2:c.1370G>A, XM_011515929.1:c.1370G>A, XM_011515928.4:c.1370G>A, XM_011515928.3:c.1370G>A, XM_011515928.2:c.1370G>A, XM_011515928.1:c.1370G>A, XM_006715898.4:c.647G>A, XM_006715898.3:c.647G>A, XM_006715898.2:c.647G>A, XM_006715898.1:c.647G>A, XR_927410.4:n.1396G>A, XR_927410.3:n.1816G>A, XR_927410.2:n.1433G>A, XR_927410.1:n.1373G>A, XM_011515932.4:c.1370G>A, XM_011515932.3:c.1370G>A, XM_011515932.2:c.1370G>A, XM_011515932.1:c.1370G>A, XM_011515930.3:c.1100G>A, XM_011515930.2:c.1100G>A, XM_011515930.1:c.1100G>A, XM_017011850.3:c.1361G>A, XM_017011850.2:c.1361G>A, XM_017011850.1:c.1361G>A, NM_145032.3:c.1100G>A, XM_017011851.3:c.1370G>A, XM_017011851.2:c.1370G>A, XM_017011851.1:c.1370G>A, XM_017011852.2:c.1235G>A, XM_017011852.1:c.1235G>A, NM_001394494.2:c.1370G>A, NM_001394494.1:c.1370G>A, XM_017011853.2:c.1100G>A, XM_017011853.1:c.1100G>A, XM_024446687.2:c.647G>A, XM_024446687.1:c.647G>A, NR_105043.2:n.1396G>A, NR_105043.1:n.1441G>A, NM_001287150.2:c.1100G>A, NM_001287150.1:c.1100G>A, NM_001111038.2:c.1100G>A, NM_001111038.1:c.1100G>A, XM_047420043.1:c.1370G>A, XM_047420044.1:c.545G>A, XP_005250265.1:p.Cys457Tyr, XP_011514231.1:p.Cys457Tyr, XP_011514230.1:p.Cys457Tyr, XP_006715961.1:p.Cys216Tyr, XP_011514234.1:p.Cys457Tyr, XP_011514232.1:p.Cys367Tyr, XP_016867339.1:p.Cys454Tyr, NP_659469.3:p.Cys367Tyr, XP_016867340.1:p.Cys457Tyr, XP_016867341.1:p.Cys412Tyr, NP_001381423.1:p.Cys457Tyr, XP_016867342.1:p.Cys367Tyr, XP_024302455.1:p.Cys216Tyr, NP_001274079.1:p.Cys367Tyr, NP_001104508.1:p.Cys367Tyr, XP_047275999.1:p.Cys457Tyr, XP_047276000.1:p.Cys182Tyr

        4.

        rs1485085886 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          7:102926359 (GRCh38)
          7:102566806 (GRCh37)
          Canonical SPDI:
          NC_000007.14:102926358:G:C
          Gene:
          LRRC17 (Varview), FBXL13 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000007.14:g.102926359G>C, NC_000007.13:g.102566806G>C, XM_005250207.5:c.1063C>G, XM_005250207.4:c.1063C>G, XM_005250207.3:c.1063C>G, XM_005250207.2:c.1063C>G, XM_005250207.1:c.1063C>G, XM_005250208.5:c.1063C>G, XM_005250208.4:c.1063C>G, XM_005250208.3:c.1063C>G, XM_005250208.2:c.1063C>G, XM_005250208.1:c.1063C>G, XM_011515929.4:c.1063C>G, XM_011515929.3:c.1063C>G, XM_011515929.2:c.1063C>G, XM_011515929.1:c.1063C>G, XM_011515928.4:c.1063C>G, XM_011515928.3:c.1063C>G, XM_011515928.2:c.1063C>G, XM_011515928.1:c.1063C>G, XM_006715898.4:c.340C>G, XM_006715898.3:c.340C>G, XM_006715898.2:c.340C>G, XM_006715898.1:c.340C>G, XR_927410.4:n.1089C>G, XR_927410.3:n.1509C>G, XR_927410.2:n.1126C>G, XR_927410.1:n.1066C>G, XM_011515932.4:c.1063C>G, XM_011515932.3:c.1063C>G, XM_011515932.2:c.1063C>G, XM_011515932.1:c.1063C>G, XM_011515930.3:c.793C>G, XM_011515930.2:c.793C>G, XM_011515930.1:c.793C>G, XM_017011850.3:c.1054C>G, XM_017011850.2:c.1054C>G, XM_017011850.1:c.1054C>G, NM_145032.3:c.793C>G, XM_017011851.3:c.1063C>G, XM_017011851.2:c.1063C>G, XM_017011851.1:c.1063C>G, XM_017011852.2:c.928C>G, XM_017011852.1:c.928C>G, NM_001394494.2:c.1063C>G, NM_001394494.1:c.1063C>G, XM_017011853.2:c.793C>G, XM_017011853.1:c.793C>G, XM_024446687.2:c.340C>G, XM_024446687.1:c.340C>G, NR_105043.2:n.1089C>G, NR_105043.1:n.1134C>G, NM_001287150.2:c.793C>G, NM_001287150.1:c.793C>G, NM_001111038.2:c.793C>G, NM_001111038.1:c.793C>G, XM_047420043.1:c.1063C>G, XM_047420044.1:c.238C>G, XM_047420045.1:c.340C>G, XP_005250264.1:p.His355Asp, XP_005250265.1:p.His355Asp, XP_011514231.1:p.His355Asp, XP_011514230.1:p.His355Asp, XP_006715961.1:p.His114Asp, XP_011514234.1:p.His355Asp, XP_011514232.1:p.His265Asp, XP_016867339.1:p.His352Asp, NP_659469.3:p.His265Asp, XP_016867340.1:p.His355Asp, XP_016867341.1:p.His310Asp, NP_001381423.1:p.His355Asp, XP_016867342.1:p.His265Asp, XP_024302455.1:p.His114Asp, NP_001274079.1:p.His265Asp, NP_001104508.1:p.His265Asp, XP_047275999.1:p.His355Asp, XP_047276000.1:p.His80Asp, XP_047276001.1:p.His114Asp

          5.

          rs1480465140 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            7:103027507 (GRCh38)
            7:102667954 (GRCh37)
            Canonical SPDI:
            NC_000007.14:103027506:A:C
            Gene:
            FBXL13 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000007.14:g.103027507A>C, NC_000007.13:g.102667954A>C, XM_005250207.5:c.539T>G, XM_005250207.4:c.539T>G, XM_005250207.3:c.539T>G, XM_005250207.2:c.539T>G, XM_005250207.1:c.539T>G, XM_005250208.5:c.539T>G, XM_005250208.4:c.539T>G, XM_005250208.3:c.539T>G, XM_005250208.2:c.539T>G, XM_005250208.1:c.539T>G, XM_011515929.4:c.539T>G, XM_011515929.3:c.539T>G, XM_011515929.2:c.539T>G, XM_011515929.1:c.539T>G, XM_011515928.4:c.539T>G, XM_011515928.3:c.539T>G, XM_011515928.2:c.539T>G, XM_011515928.1:c.539T>G, XR_927410.4:n.565T>G, XR_927410.3:n.985T>G, XR_927410.2:n.602T>G, XR_927410.1:n.542T>G, XM_011515932.4:c.539T>G, XM_011515932.3:c.539T>G, XM_011515932.2:c.539T>G, XM_011515932.1:c.539T>G, XM_011515930.3:c.269T>G, XM_011515930.2:c.269T>G, XM_011515930.1:c.269T>G, XM_017011850.3:c.530T>G, XM_017011850.2:c.530T>G, XM_017011850.1:c.530T>G, NM_145032.3:c.269T>G, XM_017011851.3:c.539T>G, XM_017011851.2:c.539T>G, XM_017011851.1:c.539T>G, XM_017011852.2:c.404T>G, XM_017011852.1:c.404T>G, NM_001394494.2:c.539T>G, NM_001394494.1:c.539T>G, XM_017011853.2:c.269T>G, XM_017011853.1:c.269T>G, NR_105043.2:n.565T>G, NR_105043.1:n.610T>G, NM_001287150.2:c.269T>G, NM_001287150.1:c.269T>G, NM_001111038.2:c.269T>G, NM_001111038.1:c.269T>G, XM_047420043.1:c.539T>G, XM_047420044.1:c.-287T>G, XP_005250264.1:p.Ile180Ser, XP_005250265.1:p.Ile180Ser, XP_011514231.1:p.Ile180Ser, XP_011514230.1:p.Ile180Ser, XP_011514234.1:p.Ile180Ser, XP_011514232.1:p.Ile90Ser, XP_016867339.1:p.Ile177Ser, NP_659469.3:p.Ile90Ser, XP_016867340.1:p.Ile180Ser, XP_016867341.1:p.Ile135Ser, NP_001381423.1:p.Ile180Ser, XP_016867342.1:p.Ile90Ser, NP_001274079.1:p.Ile90Ser, NP_001104508.1:p.Ile90Ser, XP_047275999.1:p.Ile180Ser

            6.

            rs1479945673 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              7:102813515 (GRCh38)
              7:102453962 (GRCh37)
              Canonical SPDI:
              NC_000007.14:102813514:T:A
              Gene:
              FAM185A (Varview), FBXL13 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000007.14:g.102813515T>A, NC_000007.13:g.102453962T>A, XM_005250207.5:c.2206A>T, XM_005250207.4:c.2206A>T, XM_005250207.3:c.2206A>T, XM_005250207.2:c.2206A>T, XM_005250207.1:c.2206A>T, XM_005250208.5:c.2170A>T, XM_005250208.4:c.2170A>T, XM_005250208.3:c.2170A>T, XM_005250208.2:c.2170A>T, XM_005250208.1:c.2170A>T, XM_011515929.4:c.*2061A>T, XM_011515928.4:c.2221A>T, XM_011515928.3:c.2221A>T, XM_011515928.2:c.2221A>T, XM_011515928.1:c.2221A>T, XM_006715898.4:c.1582A>T, XM_006715898.3:c.1582A>T, XM_006715898.2:c.1582A>T, XM_006715898.1:c.1582A>T, XM_011515930.3:c.2035A>T, XM_011515930.2:c.2035A>T, XM_011515930.1:c.2035A>T, XM_017011850.3:c.2296A>T, XM_017011850.2:c.2296A>T, XM_017011850.1:c.2296A>T, NM_145032.3:c.2035A>T, XM_017011852.2:c.2170A>T, XM_017011852.1:c.2170A>T, NM_001394494.2:c.2305A>T, NM_001394494.1:c.2305A>T, XM_017011853.2:c.2035A>T, XM_017011853.1:c.2035A>T, XM_024446687.2:c.1447A>T, XM_024446687.1:c.1447A>T, NR_105043.2:n.2254A>T, NR_105043.1:n.2299A>T, NM_001287150.2:c.1951A>T, NM_001287150.1:c.1951A>T, NM_001111038.2:c.1900A>T, NM_001111038.1:c.1900A>T, XM_047420043.1:c.*874A>T, XM_047420044.1:c.1480A>T, XM_047420045.1:c.1348A>T, XP_005250264.1:p.Met736Leu, XP_005250265.1:p.Met724Leu, XP_011514230.1:p.Met741Leu, XP_006715961.1:p.Met528Leu, XP_011514232.1:p.Met679Leu, XP_016867339.1:p.Met766Leu, NP_659469.3:p.Met679Leu, XP_016867341.1:p.Met724Leu, NP_001381423.1:p.Met769Leu, XP_016867342.1:p.Met679Leu, XP_024302455.1:p.Met483Leu, NP_001274079.1:p.Met651Leu, NP_001104508.1:p.Met634Leu, XP_047276000.1:p.Met494Leu, XP_047276001.1:p.Met450Leu

              7.

              rs1479485825 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                7:103025091 (GRCh38)
                7:102665538 (GRCh37)
                Canonical SPDI:
                NC_000007.14:103025090:G:A
                Gene:
                FBXL13 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000007.14:g.103025091G>A, NC_000007.13:g.102665538G>A, XM_005250207.5:c.737C>T, XM_005250207.4:c.737C>T, XM_005250207.3:c.737C>T, XM_005250207.2:c.737C>T, XM_005250207.1:c.737C>T, XM_005250208.5:c.737C>T, XM_005250208.4:c.737C>T, XM_005250208.3:c.737C>T, XM_005250208.2:c.737C>T, XM_005250208.1:c.737C>T, XM_011515929.4:c.737C>T, XM_011515929.3:c.737C>T, XM_011515929.2:c.737C>T, XM_011515929.1:c.737C>T, XM_011515928.4:c.737C>T, XM_011515928.3:c.737C>T, XM_011515928.2:c.737C>T, XM_011515928.1:c.737C>T, XR_927410.4:n.763C>T, XR_927410.3:n.1183C>T, XR_927410.2:n.800C>T, XR_927410.1:n.740C>T, XM_011515932.4:c.737C>T, XM_011515932.3:c.737C>T, XM_011515932.2:c.737C>T, XM_011515932.1:c.737C>T, XM_011515930.3:c.467C>T, XM_011515930.2:c.467C>T, XM_011515930.1:c.467C>T, XM_017011850.3:c.728C>T, XM_017011850.2:c.728C>T, XM_017011850.1:c.728C>T, NM_145032.3:c.467C>T, XM_017011851.3:c.737C>T, XM_017011851.2:c.737C>T, XM_017011851.1:c.737C>T, XM_017011852.2:c.602C>T, XM_017011852.1:c.602C>T, NM_001394494.2:c.737C>T, NM_001394494.1:c.737C>T, XM_017011853.2:c.467C>T, XM_017011853.1:c.467C>T, NR_105043.2:n.763C>T, NR_105043.1:n.808C>T, NM_001287150.2:c.467C>T, NM_001287150.1:c.467C>T, NM_001111038.2:c.467C>T, NM_001111038.1:c.467C>T, XM_047420043.1:c.737C>T, XM_047420044.1:c.-89C>T, XP_005250264.1:p.Ser246Leu, XP_005250265.1:p.Ser246Leu, XP_011514231.1:p.Ser246Leu, XP_011514230.1:p.Ser246Leu, XP_011514234.1:p.Ser246Leu, XP_011514232.1:p.Ser156Leu, XP_016867339.1:p.Ser243Leu, NP_659469.3:p.Ser156Leu, XP_016867340.1:p.Ser246Leu, XP_016867341.1:p.Ser201Leu, NP_001381423.1:p.Ser246Leu, XP_016867342.1:p.Ser156Leu, NP_001274079.1:p.Ser156Leu, NP_001104508.1:p.Ser156Leu, XP_047275999.1:p.Ser246Leu

                8.

                rs1476916501 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  7:102813483 (GRCh38)
                  7:102453930 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:102813482:G:T
                  Gene:
                  FAM185A (Varview), FBXL13 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,3_prime_UTR_variant,intron_variant,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_000007.14:g.102813483G>T, NC_000007.13:g.102453930G>T, XM_005250207.5:c.2238C>A, XM_005250207.4:c.2238C>A, XM_005250207.3:c.2238C>A, XM_005250207.2:c.2238C>A, XM_005250207.1:c.2238C>A, XM_005250208.5:c.2202C>A, XM_005250208.4:c.2202C>A, XM_005250208.3:c.2202C>A, XM_005250208.2:c.2202C>A, XM_005250208.1:c.2202C>A, XM_011515929.4:c.*2093C>A, XM_011515928.4:c.2253C>A, XM_011515928.3:c.2253C>A, XM_011515928.2:c.2253C>A, XM_011515928.1:c.2253C>A, XM_006715898.4:c.1614C>A, XM_006715898.3:c.1614C>A, XM_006715898.2:c.1614C>A, XM_006715898.1:c.1614C>A, XM_011515930.3:c.2067C>A, XM_011515930.2:c.2067C>A, XM_011515930.1:c.2067C>A, XM_017011850.3:c.2328C>A, XM_017011850.2:c.2328C>A, XM_017011850.1:c.2328C>A, NM_145032.3:c.2067C>A, XM_017011852.2:c.2202C>A, XM_017011852.1:c.2202C>A, NM_001394494.2:c.2337C>A, NM_001394494.1:c.2337C>A, XM_017011853.2:c.2067C>A, XM_017011853.1:c.2067C>A, XM_024446687.2:c.1479C>A, XM_024446687.1:c.1479C>A, NR_105043.2:n.2286C>A, NR_105043.1:n.2331C>A, NM_001287150.2:c.1983C>A, NM_001287150.1:c.1983C>A, NM_001111038.2:c.1932C>A, NM_001111038.1:c.1932C>A, XM_047420043.1:c.*906C>A, XM_047420044.1:c.1512C>A, XM_047420045.1:c.1380C>A, XP_005250264.1:p.Asn746Lys, XP_005250265.1:p.Asn734Lys, XP_011514230.1:p.Asn751Lys, XP_006715961.1:p.Asn538Lys, XP_011514232.1:p.Asn689Lys, XP_016867339.1:p.Asn776Lys, NP_659469.3:p.Asn689Lys, XP_016867341.1:p.Asn734Lys, NP_001381423.1:p.Asn779Lys, XP_016867342.1:p.Asn689Lys, XP_024302455.1:p.Asn493Lys, NP_001274079.1:p.Asn661Lys, NP_001104508.1:p.Asn644Lys, XP_047276000.1:p.Asn504Lys, XP_047276001.1:p.Asn460Lys

                  9.

                  rs1476516498 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTGTACGAGCTATGTCTCTCCAA>- [Show Flanks]
                    Chromosome:
                    7:103028722 (GRCh38)
                    7:102669169 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:103028720:ATTTGTACGAGCTATGTCTCTCCAA:A
                    Gene:
                    FBXL13 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,inframe_deletion,genic_upstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000007.14:g.103028722_103028745del, NC_000007.13:g.102669169_102669192del, XM_005250207.5:c.343_366del, XM_005250207.4:c.343_366del, XM_005250207.3:c.343_366del, XM_005250207.2:c.343_366del, XM_005250207.1:c.343_366del, XM_005250208.5:c.343_366del, XM_005250208.4:c.343_366del, XM_005250208.3:c.343_366del, XM_005250208.2:c.343_366del, XM_005250208.1:c.343_366del, XM_011515929.4:c.343_366del, XM_011515929.3:c.343_366del, XM_011515929.2:c.343_366del, XM_011515929.1:c.343_366del, XM_011515928.4:c.343_366del, XM_011515928.3:c.343_366del, XM_011515928.2:c.343_366del, XM_011515928.1:c.343_366del, XR_927410.4:n.369_392del, XR_927410.3:n.789_812del, XR_927410.2:n.406_429del, XR_927410.1:n.346_369del, XM_011515932.4:c.343_366del, XM_011515932.3:c.343_366del, XM_011515932.2:c.343_366del, XM_011515932.1:c.343_366del, XM_011515930.3:c.73_96del, XM_011515930.2:c.73_96del, XM_011515930.1:c.73_96del, XM_017011850.3:c.334_357del, XM_017011850.2:c.334_357del, XM_017011850.1:c.334_357del, NM_145032.3:c.73_96del, XM_017011851.3:c.343_366del, XM_017011851.2:c.343_366del, XM_017011851.1:c.343_366del, XM_017011852.2:c.208_231del, XM_017011852.1:c.208_231del, NM_001394494.2:c.343_366del, NM_001394494.1:c.343_366del, XM_017011853.2:c.73_96del, XM_017011853.1:c.73_96del, NR_105043.2:n.369_392del, NR_105043.1:n.414_437del, NM_001287150.2:c.73_96del, NM_001287150.1:c.73_96del, NM_001111038.2:c.73_96del, NM_001111038.1:c.73_96del, XM_047420043.1:c.343_366del, XP_005250264.1:p.Trp115_Asn122del, XP_005250265.1:p.Trp115_Asn122del, XP_011514231.1:p.Trp115_Asn122del, XP_011514230.1:p.Trp115_Asn122del, XP_011514234.1:p.Trp115_Asn122del, XP_011514232.1:p.Trp25_Asn32del, XP_016867339.1:p.Trp112_Asn119del, NP_659469.3:p.Trp25_Asn32del, XP_016867340.1:p.Trp115_Asn122del, XP_016867341.1:p.Trp70_Asn77del, NP_001381423.1:p.Trp115_Asn122del, XP_016867342.1:p.Trp25_Asn32del, NP_001274079.1:p.Trp25_Asn32del, NP_001104508.1:p.Trp25_Asn32del, XP_047275999.1:p.Trp115_Asn122del

                    10.

                    rs1473510852 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      7:102968025 (GRCh38)
                      7:102608472 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:102968024:A:G
                      Gene:
                      FBXL13 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000007.14:g.102968025A>G, NC_000007.13:g.102608472A>G, XM_005250207.5:c.858T>C, XM_005250207.4:c.858T>C, XM_005250207.3:c.858T>C, XM_005250207.2:c.858T>C, XM_005250207.1:c.858T>C, XM_005250208.5:c.858T>C, XM_005250208.4:c.858T>C, XM_005250208.3:c.858T>C, XM_005250208.2:c.858T>C, XM_005250208.1:c.858T>C, XM_011515929.4:c.858T>C, XM_011515929.3:c.858T>C, XM_011515929.2:c.858T>C, XM_011515929.1:c.858T>C, XM_011515928.4:c.858T>C, XM_011515928.3:c.858T>C, XM_011515928.2:c.858T>C, XM_011515928.1:c.858T>C, XM_006715898.4:c.135T>C, XM_006715898.3:c.135T>C, XM_006715898.2:c.135T>C, XM_006715898.1:c.135T>C, XR_927410.4:n.884T>C, XR_927410.3:n.1304T>C, XR_927410.2:n.921T>C, XR_927410.1:n.861T>C, XM_011515932.4:c.858T>C, XM_011515932.3:c.858T>C, XM_011515932.2:c.858T>C, XM_011515932.1:c.858T>C, XM_011515930.3:c.588T>C, XM_011515930.2:c.588T>C, XM_011515930.1:c.588T>C, XM_017011850.3:c.849T>C, XM_017011850.2:c.849T>C, XM_017011850.1:c.849T>C, NM_145032.3:c.588T>C, XM_017011851.3:c.858T>C, XM_017011851.2:c.858T>C, XM_017011851.1:c.858T>C, XM_017011852.2:c.723T>C, XM_017011852.1:c.723T>C, NM_001394494.2:c.858T>C, NM_001394494.1:c.858T>C, XM_017011853.2:c.588T>C, XM_017011853.1:c.588T>C, XM_024446687.2:c.135T>C, XM_024446687.1:c.135T>C, NR_105043.2:n.884T>C, NR_105043.1:n.929T>C, NM_001287150.2:c.588T>C, NM_001287150.1:c.588T>C, NM_001111038.2:c.588T>C, NM_001111038.1:c.588T>C, XM_047420043.1:c.858T>C, XM_047420044.1:c.33T>C, XM_047420045.1:c.135T>C

                      11.

                      rs1472929404 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        7:102913192 (GRCh38)
                        7:102553639 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:102913191:A:C
                        Gene:
                        LRRC17 (Varview), FBXL13 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000007.14:g.102913192A>C, NC_000007.13:g.102553639A>C, XM_005250207.5:c.1172T>G, XM_005250207.4:c.1172T>G, XM_005250207.3:c.1172T>G, XM_005250207.2:c.1172T>G, XM_005250207.1:c.1172T>G, XM_005250208.5:c.1172T>G, XM_005250208.4:c.1172T>G, XM_005250208.3:c.1172T>G, XM_005250208.2:c.1172T>G, XM_005250208.1:c.1172T>G, XM_011515929.4:c.1172T>G, XM_011515929.3:c.1172T>G, XM_011515929.2:c.1172T>G, XM_011515929.1:c.1172T>G, XM_011515928.4:c.1172T>G, XM_011515928.3:c.1172T>G, XM_011515928.2:c.1172T>G, XM_011515928.1:c.1172T>G, XM_006715898.4:c.449T>G, XM_006715898.3:c.449T>G, XM_006715898.2:c.449T>G, XM_006715898.1:c.449T>G, XR_927410.4:n.1198T>G, XR_927410.3:n.1618T>G, XR_927410.2:n.1235T>G, XR_927410.1:n.1175T>G, XM_011515932.4:c.1172T>G, XM_011515932.3:c.1172T>G, XM_011515932.2:c.1172T>G, XM_011515932.1:c.1172T>G, XM_011515930.3:c.902T>G, XM_011515930.2:c.902T>G, XM_011515930.1:c.902T>G, XM_017011850.3:c.1163T>G, XM_017011850.2:c.1163T>G, XM_017011850.1:c.1163T>G, NM_145032.3:c.902T>G, XM_017011851.3:c.1172T>G, XM_017011851.2:c.1172T>G, XM_017011851.1:c.1172T>G, XM_017011852.2:c.1037T>G, XM_017011852.1:c.1037T>G, NM_001394494.2:c.1172T>G, NM_001394494.1:c.1172T>G, XM_017011853.2:c.902T>G, XM_017011853.1:c.902T>G, XM_024446687.2:c.449T>G, XM_024446687.1:c.449T>G, NR_105043.2:n.1198T>G, NR_105043.1:n.1243T>G, NM_001287150.2:c.902T>G, NM_001287150.1:c.902T>G, NM_001111038.2:c.902T>G, NM_001111038.1:c.902T>G, XM_047420043.1:c.1172T>G, XM_047420044.1:c.347T>G, XM_047420045.1:c.449T>G, XM_047419717.1:c.-862A>C, XP_005250264.1:p.Leu391Arg, XP_005250265.1:p.Leu391Arg, XP_011514231.1:p.Leu391Arg, XP_011514230.1:p.Leu391Arg, XP_006715961.1:p.Leu150Arg, XP_011514234.1:p.Leu391Arg, XP_011514232.1:p.Leu301Arg, XP_016867339.1:p.Leu388Arg, NP_659469.3:p.Leu301Arg, XP_016867340.1:p.Leu391Arg, XP_016867341.1:p.Leu346Arg, NP_001381423.1:p.Leu391Arg, XP_016867342.1:p.Leu301Arg, XP_024302455.1:p.Leu150Arg, NP_001274079.1:p.Leu301Arg, NP_001104508.1:p.Leu301Arg, XP_047275999.1:p.Leu391Arg, XP_047276000.1:p.Leu116Arg, XP_047276001.1:p.Leu150Arg

                        12.

                        rs1469594253 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          7:102813418 (GRCh38)
                          7:102453865 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:102813417:T:C
                          Gene:
                          FAM185A (Varview), FBXL13 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000007.14:g.102813418T>C, NC_000007.13:g.102453865T>C, XM_005250207.5:c.2303A>G, XM_005250207.4:c.2303A>G, XM_005250207.3:c.2303A>G, XM_005250207.2:c.2303A>G, XM_005250207.1:c.2303A>G, XM_005250208.5:c.2267A>G, XM_005250208.4:c.2267A>G, XM_005250208.3:c.2267A>G, XM_005250208.2:c.2267A>G, XM_005250208.1:c.2267A>G, XM_011515929.4:c.*2158A>G, XM_011515928.4:c.2318A>G, XM_011515928.3:c.2318A>G, XM_011515928.2:c.2318A>G, XM_011515928.1:c.2318A>G, XM_006715898.4:c.1679A>G, XM_006715898.3:c.1679A>G, XM_006715898.2:c.1679A>G, XM_006715898.1:c.1679A>G, XM_011515930.3:c.2132A>G, XM_011515930.2:c.2132A>G, XM_011515930.1:c.2132A>G, XM_017011850.3:c.2393A>G, XM_017011850.2:c.2393A>G, XM_017011850.1:c.2393A>G, NM_145032.3:c.2132A>G, XM_017011852.2:c.2267A>G, XM_017011852.1:c.2267A>G, NM_001394494.2:c.2402A>G, NM_001394494.1:c.2402A>G, XM_017011853.2:c.2132A>G, XM_017011853.1:c.2132A>G, XM_024446687.2:c.1544A>G, XM_024446687.1:c.1544A>G, NR_105043.2:n.2351A>G, NR_105043.1:n.2396A>G, NM_001287150.2:c.2048A>G, NM_001287150.1:c.2048A>G, NM_001111038.2:c.1997A>G, NM_001111038.1:c.1997A>G, XM_047420043.1:c.*971A>G, XM_047420044.1:c.1577A>G, XM_047420045.1:c.1445A>G, XP_005250264.1:p.Asn768Ser, XP_005250265.1:p.Asn756Ser, XP_011514230.1:p.Asn773Ser, XP_006715961.1:p.Asn560Ser, XP_011514232.1:p.Asn711Ser, XP_016867339.1:p.Asn798Ser, NP_659469.3:p.Asn711Ser, XP_016867341.1:p.Asn756Ser, NP_001381423.1:p.Asn801Ser, XP_016867342.1:p.Asn711Ser, XP_024302455.1:p.Asn515Ser, NP_001274079.1:p.Asn683Ser, NP_001104508.1:p.Asn666Ser, XP_047276000.1:p.Asn526Ser, XP_047276001.1:p.Asn482Ser

                          13.

                          rs1467546918 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:102913200 (GRCh38)
                            7:102553647 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:102913199:T:C
                            Gene:
                            LRRC17 (Varview), FBXL13 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000007.14:g.102913200T>C, NC_000007.13:g.102553647T>C, XM_005250207.5:c.1164A>G, XM_005250207.4:c.1164A>G, XM_005250207.3:c.1164A>G, XM_005250207.2:c.1164A>G, XM_005250207.1:c.1164A>G, XM_005250208.5:c.1164A>G, XM_005250208.4:c.1164A>G, XM_005250208.3:c.1164A>G, XM_005250208.2:c.1164A>G, XM_005250208.1:c.1164A>G, XM_011515929.4:c.1164A>G, XM_011515929.3:c.1164A>G, XM_011515929.2:c.1164A>G, XM_011515929.1:c.1164A>G, XM_011515928.4:c.1164A>G, XM_011515928.3:c.1164A>G, XM_011515928.2:c.1164A>G, XM_011515928.1:c.1164A>G, XM_006715898.4:c.441A>G, XM_006715898.3:c.441A>G, XM_006715898.2:c.441A>G, XM_006715898.1:c.441A>G, XR_927410.4:n.1190A>G, XR_927410.3:n.1610A>G, XR_927410.2:n.1227A>G, XR_927410.1:n.1167A>G, XM_011515932.4:c.1164A>G, XM_011515932.3:c.1164A>G, XM_011515932.2:c.1164A>G, XM_011515932.1:c.1164A>G, XM_011515930.3:c.894A>G, XM_011515930.2:c.894A>G, XM_011515930.1:c.894A>G, XM_017011850.3:c.1155A>G, XM_017011850.2:c.1155A>G, XM_017011850.1:c.1155A>G, NM_145032.3:c.894A>G, XM_017011851.3:c.1164A>G, XM_017011851.2:c.1164A>G, XM_017011851.1:c.1164A>G, XM_017011852.2:c.1029A>G, XM_017011852.1:c.1029A>G, NM_001394494.2:c.1164A>G, NM_001394494.1:c.1164A>G, XM_017011853.2:c.894A>G, XM_017011853.1:c.894A>G, XM_024446687.2:c.441A>G, XM_024446687.1:c.441A>G, NR_105043.2:n.1190A>G, NR_105043.1:n.1235A>G, NM_001287150.2:c.894A>G, NM_001287150.1:c.894A>G, NM_001111038.2:c.894A>G, NM_001111038.1:c.894A>G, XM_047420043.1:c.1164A>G, XM_047420044.1:c.339A>G, XM_047420045.1:c.441A>G, XM_047419717.1:c.-854T>C

                            14.

                            rs1466306606 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              7:102963621 (GRCh38)
                              7:102604068 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:102963620:T:C
                              Gene:
                              FBXL13 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000007.14:g.102963621T>C, NC_000007.13:g.102604068T>C, XM_005250207.5:c.906A>G, XM_005250207.4:c.906A>G, XM_005250207.3:c.906A>G, XM_005250207.2:c.906A>G, XM_005250207.1:c.906A>G, XM_005250208.5:c.906A>G, XM_005250208.4:c.906A>G, XM_005250208.3:c.906A>G, XM_005250208.2:c.906A>G, XM_005250208.1:c.906A>G, XM_011515929.4:c.906A>G, XM_011515929.3:c.906A>G, XM_011515929.2:c.906A>G, XM_011515929.1:c.906A>G, XM_011515928.4:c.906A>G, XM_011515928.3:c.906A>G, XM_011515928.2:c.906A>G, XM_011515928.1:c.906A>G, XM_006715898.4:c.183A>G, XM_006715898.3:c.183A>G, XM_006715898.2:c.183A>G, XM_006715898.1:c.183A>G, XR_927410.4:n.932A>G, XR_927410.3:n.1352A>G, XR_927410.2:n.969A>G, XR_927410.1:n.909A>G, XM_011515932.4:c.906A>G, XM_011515932.3:c.906A>G, XM_011515932.2:c.906A>G, XM_011515932.1:c.906A>G, XM_011515930.3:c.636A>G, XM_011515930.2:c.636A>G, XM_011515930.1:c.636A>G, XM_017011850.3:c.897A>G, XM_017011850.2:c.897A>G, XM_017011850.1:c.897A>G, NM_145032.3:c.636A>G, XM_017011851.3:c.906A>G, XM_017011851.2:c.906A>G, XM_017011851.1:c.906A>G, XM_017011852.2:c.771A>G, XM_017011852.1:c.771A>G, NM_001394494.2:c.906A>G, NM_001394494.1:c.906A>G, XM_017011853.2:c.636A>G, XM_017011853.1:c.636A>G, XM_024446687.2:c.183A>G, XM_024446687.1:c.183A>G, NR_105043.2:n.932A>G, NR_105043.1:n.977A>G, NM_001287150.2:c.636A>G, NM_001287150.1:c.636A>G, NM_001111038.2:c.636A>G, NM_001111038.1:c.636A>G, XM_047420043.1:c.906A>G, XM_047420044.1:c.81A>G, XM_047420045.1:c.183A>G, XP_005250264.1:p.Ile302Met, XP_005250265.1:p.Ile302Met, XP_011514231.1:p.Ile302Met, XP_011514230.1:p.Ile302Met, XP_006715961.1:p.Ile61Met, XP_011514234.1:p.Ile302Met, XP_011514232.1:p.Ile212Met, XP_016867339.1:p.Ile299Met, NP_659469.3:p.Ile212Met, XP_016867340.1:p.Ile302Met, XP_016867341.1:p.Ile257Met, NP_001381423.1:p.Ile302Met, XP_016867342.1:p.Ile212Met, XP_024302455.1:p.Ile61Met, NP_001274079.1:p.Ile212Met, NP_001104508.1:p.Ile212Met, XP_047275999.1:p.Ile302Met, XP_047276000.1:p.Ile27Met, XP_047276001.1:p.Ile61Met

                              15.

                              rs1465794382 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                7:102878410 (GRCh38)
                                7:102518857 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:102878409:C:T
                                Gene:
                                FBXL13 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000007.14:g.102878410C>T, NC_000007.13:g.102518857C>T, XM_005250207.5:c.1600G>A, XM_005250207.4:c.1600G>A, XM_005250207.3:c.1600G>A, XM_005250207.2:c.1600G>A, XM_005250207.1:c.1600G>A, XM_005250208.5:c.1699G>A, XM_005250208.4:c.1699G>A, XM_005250208.3:c.1699G>A, XM_005250208.2:c.1699G>A, XM_005250208.1:c.1699G>A, XM_011515929.4:c.1699G>A, XM_011515929.3:c.1699G>A, XM_011515929.2:c.1699G>A, XM_011515929.1:c.1699G>A, XM_011515928.4:c.1699G>A, XM_011515928.3:c.1699G>A, XM_011515928.2:c.1699G>A, XM_011515928.1:c.1699G>A, XM_006715898.4:c.976G>A, XM_006715898.3:c.976G>A, XM_006715898.2:c.976G>A, XM_006715898.1:c.976G>A, XR_927410.4:n.1725G>A, XR_927410.3:n.2145G>A, XR_927410.2:n.1762G>A, XR_927410.1:n.1702G>A, XM_011515932.4:c.1699G>A, XM_011515932.3:c.1699G>A, XM_011515932.2:c.1699G>A, XM_011515932.1:c.1699G>A, XM_011515930.3:c.1429G>A, XM_011515930.2:c.1429G>A, XM_011515930.1:c.1429G>A, XM_017011850.3:c.1690G>A, XM_017011850.2:c.1690G>A, XM_017011850.1:c.1690G>A, NM_145032.3:c.1429G>A, XM_017011851.3:c.1699G>A, XM_017011851.2:c.1699G>A, XM_017011851.1:c.1699G>A, XM_017011852.2:c.1564G>A, XM_017011852.1:c.1564G>A, NM_001394494.2:c.1699G>A, NM_001394494.1:c.1699G>A, XM_017011853.2:c.1429G>A, XM_017011853.1:c.1429G>A, XM_024446687.2:c.976G>A, XM_024446687.1:c.976G>A, NR_105043.2:n.1725G>A, NR_105043.1:n.1770G>A, NM_001287150.2:c.1429G>A, NM_001287150.1:c.1429G>A, NM_001111038.2:c.1429G>A, NM_001111038.1:c.1429G>A, XM_047420043.1:c.1699G>A, XM_047420044.1:c.874G>A, XM_047420045.1:c.877G>A, XP_005250264.1:p.Ala534Thr, XP_005250265.1:p.Ala567Thr, XP_011514231.1:p.Ala567Thr, XP_011514230.1:p.Ala567Thr, XP_006715961.1:p.Ala326Thr, XP_011514234.1:p.Ala567Thr, XP_011514232.1:p.Ala477Thr, XP_016867339.1:p.Ala564Thr, NP_659469.3:p.Ala477Thr, XP_016867340.1:p.Ala567Thr, XP_016867341.1:p.Ala522Thr, NP_001381423.1:p.Ala567Thr, XP_016867342.1:p.Ala477Thr, XP_024302455.1:p.Ala326Thr, NP_001274079.1:p.Ala477Thr, NP_001104508.1:p.Ala477Thr, XP_047275999.1:p.Ala567Thr, XP_047276000.1:p.Ala292Thr, XP_047276001.1:p.Ala293Thr

                                16.

                                rs1462960096 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  7:102822187 (GRCh38)
                                  7:102462634 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:102822186:A:T
                                  Gene:
                                  FAM185A (Varview), FBXL13 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_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_000007.14:g.102822187A>T, NC_000007.13:g.102462634A>T, XM_005250207.5:c.2042T>A, XM_005250207.4:c.2042T>A, XM_005250207.3:c.2042T>A, XM_005250207.2:c.2042T>A, XM_005250207.1:c.2042T>A, XM_005250208.5:c.2006T>A, XM_005250208.4:c.2006T>A, XM_005250208.3:c.2006T>A, XM_005250208.2:c.2006T>A, XM_005250208.1:c.2006T>A, XM_011515929.4:c.2141T>A, XM_011515929.3:c.2141T>A, XM_011515929.2:c.2141T>A, XM_011515929.1:c.2141T>A, XM_011515928.4:c.2057T>A, XM_011515928.3:c.2057T>A, XM_011515928.2:c.2057T>A, XM_011515928.1:c.2057T>A, XM_006715898.4:c.1418T>A, XM_006715898.3:c.1418T>A, XM_006715898.2:c.1418T>A, XM_006715898.1:c.1418T>A, XM_011515930.3:c.1871T>A, XM_011515930.2:c.1871T>A, XM_011515930.1:c.1871T>A, XM_017011850.3:c.2132T>A, XM_017011850.2:c.2132T>A, XM_017011850.1:c.2132T>A, NM_145032.3:c.1871T>A, XM_017011851.3:c.2141T>A, XM_017011851.2:c.2141T>A, XM_017011851.1:c.2141T>A, XM_017011852.2:c.2006T>A, XM_017011852.1:c.2006T>A, NM_001394494.2:c.2141T>A, NM_001394494.1:c.2141T>A, XM_017011853.2:c.1871T>A, XM_017011853.1:c.1871T>A, XM_024446687.2:c.1283T>A, XM_024446687.1:c.1283T>A, NR_105043.2:n.2090T>A, NR_105043.1:n.2135T>A, NM_001287150.2:c.1787T>A, NM_001287150.1:c.1787T>A, NM_001111038.2:c.1736T>A, NM_001111038.1:c.1736T>A, XM_047420043.1:c.2141T>A, XM_047420044.1:c.1316T>A, XM_047420045.1:c.1184T>A, XP_005250264.1:p.Met681Lys, XP_005250265.1:p.Met669Lys, XP_011514231.1:p.Met714Lys, XP_011514230.1:p.Met686Lys, XP_006715961.1:p.Met473Lys, XP_011514232.1:p.Met624Lys, XP_016867339.1:p.Met711Lys, NP_659469.3:p.Met624Lys, XP_016867340.1:p.Met714Lys, XP_016867341.1:p.Met669Lys, NP_001381423.1:p.Met714Lys, XP_016867342.1:p.Met624Lys, XP_024302455.1:p.Met428Lys, NP_001274079.1:p.Met596Lys, NP_001104508.1:p.Met579Lys, XP_047275999.1:p.Met714Lys, XP_047276000.1:p.Met439Lys, XP_047276001.1:p.Met395Lys

                                  17.

                                  rs1462533735 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    7:103028618 (GRCh38)
                                    7:102669065 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:103028617:G:A,NC_000007.14:103028617:G:C,NC_000007.14:103028617:G:T
                                    Gene:
                                    FBXL13 (Varview)
                                    Functional Consequence:
                                    stop_gained,coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000031/1 (ALFA)
                                    A=0.000015/4 (TOPMED)
                                    HGVS:
                                    NC_000007.14:g.103028618G>A, NC_000007.14:g.103028618G>C, NC_000007.14:g.103028618G>T, NC_000007.13:g.102669065G>A, NC_000007.13:g.102669065G>C, NC_000007.13:g.102669065G>T, XM_005250207.5:c.469C>T, XM_005250207.5:c.469C>G, XM_005250207.5:c.469C>A, XM_005250207.4:c.469C>T, XM_005250207.4:c.469C>G, XM_005250207.4:c.469C>A, XM_005250207.3:c.469C>T, XM_005250207.3:c.469C>G, XM_005250207.3:c.469C>A, XM_005250207.2:c.469C>T, XM_005250207.2:c.469C>G, XM_005250207.2:c.469C>A, XM_005250207.1:c.469C>T, XM_005250207.1:c.469C>G, XM_005250207.1:c.469C>A, XM_005250208.5:c.469C>T, XM_005250208.5:c.469C>G, XM_005250208.5:c.469C>A, XM_005250208.4:c.469C>T, XM_005250208.4:c.469C>G, XM_005250208.4:c.469C>A, XM_005250208.3:c.469C>T, XM_005250208.3:c.469C>G, XM_005250208.3:c.469C>A, XM_005250208.2:c.469C>T, XM_005250208.2:c.469C>G, XM_005250208.2:c.469C>A, XM_005250208.1:c.469C>T, XM_005250208.1:c.469C>G, XM_005250208.1:c.469C>A, XM_011515929.4:c.469C>T, XM_011515929.4:c.469C>G, XM_011515929.4:c.469C>A, XM_011515929.3:c.469C>T, XM_011515929.3:c.469C>G, XM_011515929.3:c.469C>A, XM_011515929.2:c.469C>T, XM_011515929.2:c.469C>G, XM_011515929.2:c.469C>A, XM_011515929.1:c.469C>T, XM_011515929.1:c.469C>G, XM_011515929.1:c.469C>A, XM_011515928.4:c.469C>T, XM_011515928.4:c.469C>G, XM_011515928.4:c.469C>A, XM_011515928.3:c.469C>T, XM_011515928.3:c.469C>G, XM_011515928.3:c.469C>A, XM_011515928.2:c.469C>T, XM_011515928.2:c.469C>G, XM_011515928.2:c.469C>A, XM_011515928.1:c.469C>T, XM_011515928.1:c.469C>G, XM_011515928.1:c.469C>A, XR_927410.4:n.495C>T, XR_927410.4:n.495C>G, XR_927410.4:n.495C>A, XR_927410.3:n.915C>T, XR_927410.3:n.915C>G, XR_927410.3:n.915C>A, XR_927410.2:n.532C>T, XR_927410.2:n.532C>G, XR_927410.2:n.532C>A, XR_927410.1:n.472C>T, XR_927410.1:n.472C>G, XR_927410.1:n.472C>A, XM_011515932.4:c.469C>T, XM_011515932.4:c.469C>G, XM_011515932.4:c.469C>A, XM_011515932.3:c.469C>T, XM_011515932.3:c.469C>G, XM_011515932.3:c.469C>A, XM_011515932.2:c.469C>T, XM_011515932.2:c.469C>G, XM_011515932.2:c.469C>A, XM_011515932.1:c.469C>T, XM_011515932.1:c.469C>G, XM_011515932.1:c.469C>A, XM_011515930.3:c.199C>T, XM_011515930.3:c.199C>G, XM_011515930.3:c.199C>A, XM_011515930.2:c.199C>T, XM_011515930.2:c.199C>G, XM_011515930.2:c.199C>A, XM_011515930.1:c.199C>T, XM_011515930.1:c.199C>G, XM_011515930.1:c.199C>A, XM_017011850.3:c.460C>T, XM_017011850.3:c.460C>G, XM_017011850.3:c.460C>A, XM_017011850.2:c.460C>T, XM_017011850.2:c.460C>G, XM_017011850.2:c.460C>A, XM_017011850.1:c.460C>T, XM_017011850.1:c.460C>G, XM_017011850.1:c.460C>A, NM_145032.3:c.199C>T, NM_145032.3:c.199C>G, NM_145032.3:c.199C>A, XM_017011851.3:c.469C>T, XM_017011851.3:c.469C>G, XM_017011851.3:c.469C>A, XM_017011851.2:c.469C>T, XM_017011851.2:c.469C>G, XM_017011851.2:c.469C>A, XM_017011851.1:c.469C>T, XM_017011851.1:c.469C>G, XM_017011851.1:c.469C>A, XM_017011852.2:c.334C>T, XM_017011852.2:c.334C>G, XM_017011852.2:c.334C>A, XM_017011852.1:c.334C>T, XM_017011852.1:c.334C>G, XM_017011852.1:c.334C>A, NM_001394494.2:c.469C>T, NM_001394494.2:c.469C>G, NM_001394494.2:c.469C>A, NM_001394494.1:c.469C>T, NM_001394494.1:c.469C>G, NM_001394494.1:c.469C>A, XM_017011853.2:c.199C>T, XM_017011853.2:c.199C>G, XM_017011853.2:c.199C>A, XM_017011853.1:c.199C>T, XM_017011853.1:c.199C>G, XM_017011853.1:c.199C>A, NR_105043.2:n.495C>T, NR_105043.2:n.495C>G, NR_105043.2:n.495C>A, NR_105043.1:n.540C>T, NR_105043.1:n.540C>G, NR_105043.1:n.540C>A, NM_001287150.2:c.199C>T, NM_001287150.2:c.199C>G, NM_001287150.2:c.199C>A, NM_001287150.1:c.199C>T, NM_001287150.1:c.199C>G, NM_001287150.1:c.199C>A, NM_001111038.2:c.199C>T, NM_001111038.2:c.199C>G, NM_001111038.2:c.199C>A, NM_001111038.1:c.199C>T, NM_001111038.1:c.199C>G, NM_001111038.1:c.199C>A, XM_047420043.1:c.469C>T, XM_047420043.1:c.469C>G, XM_047420043.1:c.469C>A, XP_005250264.1:p.Gln157Ter, XP_005250264.1:p.Gln157Glu, XP_005250264.1:p.Gln157Lys, XP_005250265.1:p.Gln157Ter, XP_005250265.1:p.Gln157Glu, XP_005250265.1:p.Gln157Lys, XP_011514231.1:p.Gln157Ter, XP_011514231.1:p.Gln157Glu, XP_011514231.1:p.Gln157Lys, XP_011514230.1:p.Gln157Ter, XP_011514230.1:p.Gln157Glu, XP_011514230.1:p.Gln157Lys, XP_011514234.1:p.Gln157Ter, XP_011514234.1:p.Gln157Glu, XP_011514234.1:p.Gln157Lys, XP_011514232.1:p.Gln67Ter, XP_011514232.1:p.Gln67Glu, XP_011514232.1:p.Gln67Lys, XP_016867339.1:p.Gln154Ter, XP_016867339.1:p.Gln154Glu, XP_016867339.1:p.Gln154Lys, NP_659469.3:p.Gln67Ter, NP_659469.3:p.Gln67Glu, NP_659469.3:p.Gln67Lys, XP_016867340.1:p.Gln157Ter, XP_016867340.1:p.Gln157Glu, XP_016867340.1:p.Gln157Lys, XP_016867341.1:p.Gln112Ter, XP_016867341.1:p.Gln112Glu, XP_016867341.1:p.Gln112Lys, NP_001381423.1:p.Gln157Ter, NP_001381423.1:p.Gln157Glu, NP_001381423.1:p.Gln157Lys, XP_016867342.1:p.Gln67Ter, XP_016867342.1:p.Gln67Glu, XP_016867342.1:p.Gln67Lys, NP_001274079.1:p.Gln67Ter, NP_001274079.1:p.Gln67Glu, NP_001274079.1:p.Gln67Lys, NP_001104508.1:p.Gln67Ter, NP_001104508.1:p.Gln67Glu, NP_001104508.1:p.Gln67Lys, XP_047275999.1:p.Gln157Ter, XP_047275999.1:p.Gln157Glu, XP_047275999.1:p.Gln157Lys

                                    18.

                                    rs1462048702 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      7:102931889 (GRCh38)
                                      7:102572336 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:102931888:T:A
                                      Gene:
                                      LRRC17 (Varview), FBXL13 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000111/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000007.14:g.102931889T>A, NC_000007.13:g.102572336T>A, XM_005250207.5:c.1039A>T, XM_005250207.4:c.1039A>T, XM_005250207.3:c.1039A>T, XM_005250207.2:c.1039A>T, XM_005250207.1:c.1039A>T, XM_005250208.5:c.1039A>T, XM_005250208.4:c.1039A>T, XM_005250208.3:c.1039A>T, XM_005250208.2:c.1039A>T, XM_005250208.1:c.1039A>T, XM_011515929.4:c.1039A>T, XM_011515929.3:c.1039A>T, XM_011515929.2:c.1039A>T, XM_011515929.1:c.1039A>T, XM_011515928.4:c.1039A>T, XM_011515928.3:c.1039A>T, XM_011515928.2:c.1039A>T, XM_011515928.1:c.1039A>T, XM_006715898.4:c.316A>T, XM_006715898.3:c.316A>T, XM_006715898.2:c.316A>T, XM_006715898.1:c.316A>T, XR_927410.4:n.1065A>T, XR_927410.3:n.1485A>T, XR_927410.2:n.1102A>T, XR_927410.1:n.1042A>T, XM_011515932.4:c.1039A>T, XM_011515932.3:c.1039A>T, XM_011515932.2:c.1039A>T, XM_011515932.1:c.1039A>T, XM_011515930.3:c.769A>T, XM_011515930.2:c.769A>T, XM_011515930.1:c.769A>T, XM_017011850.3:c.1030A>T, XM_017011850.2:c.1030A>T, XM_017011850.1:c.1030A>T, NM_145032.3:c.769A>T, XM_017011851.3:c.1039A>T, XM_017011851.2:c.1039A>T, XM_017011851.1:c.1039A>T, XM_017011852.2:c.904A>T, XM_017011852.1:c.904A>T, NM_001394494.2:c.1039A>T, NM_001394494.1:c.1039A>T, XM_017011853.2:c.769A>T, XM_017011853.1:c.769A>T, XM_024446687.2:c.316A>T, XM_024446687.1:c.316A>T, NR_105043.2:n.1065A>T, NR_105043.1:n.1110A>T, NM_001287150.2:c.769A>T, NM_001287150.1:c.769A>T, NM_001111038.2:c.769A>T, NM_001111038.1:c.769A>T, XM_047420043.1:c.1039A>T, XM_047420044.1:c.214A>T, XM_047420045.1:c.316A>T, XP_005250264.1:p.Thr347Ser, XP_005250265.1:p.Thr347Ser, XP_011514231.1:p.Thr347Ser, XP_011514230.1:p.Thr347Ser, XP_006715961.1:p.Thr106Ser, XP_011514234.1:p.Thr347Ser, XP_011514232.1:p.Thr257Ser, XP_016867339.1:p.Thr344Ser, NP_659469.3:p.Thr257Ser, XP_016867340.1:p.Thr347Ser, XP_016867341.1:p.Thr302Ser, NP_001381423.1:p.Thr347Ser, XP_016867342.1:p.Thr257Ser, XP_024302455.1:p.Thr106Ser, NP_001274079.1:p.Thr257Ser, NP_001104508.1:p.Thr257Ser, XP_047275999.1:p.Thr347Ser, XP_047276000.1:p.Thr72Ser, XP_047276001.1:p.Thr106Ser

                                      19.

                                      rs1458564712 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        7:102883679 (GRCh38)
                                        7:102524126 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:102883678:C:T
                                        Gene:
                                        FBXL13 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000047/1 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000007.14:g.102883679C>T, NC_000007.13:g.102524126C>T, XM_005250207.5:c.1285G>A, XM_005250207.4:c.1285G>A, XM_005250207.3:c.1285G>A, XM_005250207.2:c.1285G>A, XM_005250207.1:c.1285G>A, XM_005250208.5:c.1384G>A, XM_005250208.4:c.1384G>A, XM_005250208.3:c.1384G>A, XM_005250208.2:c.1384G>A, XM_005250208.1:c.1384G>A, XM_011515929.4:c.1384G>A, XM_011515929.3:c.1384G>A, XM_011515929.2:c.1384G>A, XM_011515929.1:c.1384G>A, XM_011515928.4:c.1384G>A, XM_011515928.3:c.1384G>A, XM_011515928.2:c.1384G>A, XM_011515928.1:c.1384G>A, XM_006715898.4:c.661G>A, XM_006715898.3:c.661G>A, XM_006715898.2:c.661G>A, XM_006715898.1:c.661G>A, XR_927410.4:n.1410G>A, XR_927410.3:n.1830G>A, XR_927410.2:n.1447G>A, XR_927410.1:n.1387G>A, XM_011515932.4:c.1384G>A, XM_011515932.3:c.1384G>A, XM_011515932.2:c.1384G>A, XM_011515932.1:c.1384G>A, XM_011515930.3:c.1114G>A, XM_011515930.2:c.1114G>A, XM_011515930.1:c.1114G>A, XM_017011850.3:c.1375G>A, XM_017011850.2:c.1375G>A, XM_017011850.1:c.1375G>A, NM_145032.3:c.1114G>A, XM_017011851.3:c.1384G>A, XM_017011851.2:c.1384G>A, XM_017011851.1:c.1384G>A, XM_017011852.2:c.1249G>A, XM_017011852.1:c.1249G>A, NM_001394494.2:c.1384G>A, NM_001394494.1:c.1384G>A, XM_017011853.2:c.1114G>A, XM_017011853.1:c.1114G>A, XM_024446687.2:c.661G>A, XM_024446687.1:c.661G>A, NR_105043.2:n.1410G>A, NR_105043.1:n.1455G>A, NM_001287150.2:c.1114G>A, NM_001287150.1:c.1114G>A, NM_001111038.2:c.1114G>A, NM_001111038.1:c.1114G>A, XM_047420043.1:c.1384G>A, XM_047420044.1:c.559G>A, XM_047420045.1:c.562G>A, XP_005250264.1:p.Val429Ile, XP_005250265.1:p.Val462Ile, XP_011514231.1:p.Val462Ile, XP_011514230.1:p.Val462Ile, XP_006715961.1:p.Val221Ile, XP_011514234.1:p.Val462Ile, XP_011514232.1:p.Val372Ile, XP_016867339.1:p.Val459Ile, NP_659469.3:p.Val372Ile, XP_016867340.1:p.Val462Ile, XP_016867341.1:p.Val417Ile, NP_001381423.1:p.Val462Ile, XP_016867342.1:p.Val372Ile, XP_024302455.1:p.Val221Ile, NP_001274079.1:p.Val372Ile, NP_001104508.1:p.Val372Ile, XP_047275999.1:p.Val462Ile, XP_047276000.1:p.Val187Ile, XP_047276001.1:p.Val188Ile

                                        20.

                                        rs1458473722 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          7:102877502 (GRCh38)
                                          7:102517949 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:102877501:A:G
                                          Gene:
                                          FBXL13 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          HGVS:
                                          NC_000007.14:g.102877502A>G, NC_000007.13:g.102517949A>G, XM_005250207.5:c.1771T>C, XM_005250207.4:c.1771T>C, XM_005250207.3:c.1771T>C, XM_005250207.2:c.1771T>C, XM_005250207.1:c.1771T>C, XM_005250208.5:c.1870T>C, XM_005250208.4:c.1870T>C, XM_005250208.3:c.1870T>C, XM_005250208.2:c.1870T>C, XM_005250208.1:c.1870T>C, XM_011515929.4:c.1870T>C, XM_011515929.3:c.1870T>C, XM_011515929.2:c.1870T>C, XM_011515929.1:c.1870T>C, XM_011515928.4:c.1870T>C, XM_011515928.3:c.1870T>C, XM_011515928.2:c.1870T>C, XM_011515928.1:c.1870T>C, XM_006715898.4:c.1147T>C, XM_006715898.3:c.1147T>C, XM_006715898.2:c.1147T>C, XM_006715898.1:c.1147T>C, XR_927410.4:n.1896T>C, XR_927410.3:n.2316T>C, XR_927410.2:n.1933T>C, XR_927410.1:n.1873T>C, XM_011515932.4:c.1870T>C, XM_011515932.3:c.1870T>C, XM_011515932.2:c.1870T>C, XM_011515932.1:c.1870T>C, XM_011515930.3:c.1600T>C, XM_011515930.2:c.1600T>C, XM_011515930.1:c.1600T>C, XM_017011850.3:c.1861T>C, XM_017011850.2:c.1861T>C, XM_017011850.1:c.1861T>C, NM_145032.3:c.1600T>C, XM_017011851.3:c.1870T>C, XM_017011851.2:c.1870T>C, XM_017011851.1:c.1870T>C, XM_017011852.2:c.1735T>C, XM_017011852.1:c.1735T>C, NM_001394494.2:c.1870T>C, NM_001394494.1:c.1870T>C, XM_017011853.2:c.1600T>C, XM_017011853.1:c.1600T>C, XM_024446687.2:c.1147T>C, XM_024446687.1:c.1147T>C, NR_105043.2:n.1896T>C, NR_105043.1:n.1941T>C, NM_001287150.2:c.1600T>C, NM_001287150.1:c.1600T>C, NM_001111038.2:c.1600T>C, NM_001111038.1:c.1600T>C, XM_047420043.1:c.1870T>C, XM_047420044.1:c.1045T>C, XM_047420045.1:c.1048T>C, XP_005250264.1:p.Ser591Pro, XP_005250265.1:p.Ser624Pro, XP_011514231.1:p.Ser624Pro, XP_011514230.1:p.Ser624Pro, XP_006715961.1:p.Ser383Pro, XP_011514234.1:p.Ser624Pro, XP_011514232.1:p.Ser534Pro, XP_016867339.1:p.Ser621Pro, NP_659469.3:p.Ser534Pro, XP_016867340.1:p.Ser624Pro, XP_016867341.1:p.Ser579Pro, NP_001381423.1:p.Ser624Pro, XP_016867342.1:p.Ser534Pro, XP_024302455.1:p.Ser383Pro, NP_001274079.1:p.Ser534Pro, NP_001104508.1:p.Ser534Pro, XP_047275999.1:p.Ser624Pro, XP_047276000.1:p.Ser349Pro, XP_047276001.1:p.Ser350Pro

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