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Items: 1 to 20 of 791

1.

rs1490554394 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    10:30845326 (GRCh38)
    10:31134255 (GRCh37)
    Canonical SPDI:
    NC_000010.11:30845325:C:T
    Gene:
    ZNF438 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.30845326C>T, NC_000010.10:g.31134255C>T, XM_006717399.4:c.2092G>A, XM_006717399.3:c.2092G>A, XM_006717399.2:c.2092G>A, XM_006717399.1:c.2092G>A, XM_011519373.4:c.2122G>A, XM_011519373.3:c.2122G>A, XM_011519373.2:c.2122G>A, XM_011519373.1:c.2122G>A, XM_017015870.3:c.2122G>A, XM_017015870.2:c.2122G>A, XM_017015870.1:c.2122G>A, XM_011519376.3:c.2092G>A, XM_011519376.2:c.2092G>A, XM_011519376.1:c.2092G>A, XM_011519374.3:c.2122G>A, XM_011519374.2:c.2122G>A, XM_011519374.1:c.2122G>A, XM_011519377.3:c.2092G>A, XM_011519377.2:c.2092G>A, XM_011519377.1:c.2092G>A, XM_011519372.3:c.2122G>A, XM_011519372.2:c.2122G>A, XM_011519372.1:c.2122G>A, NM_182755.3:c.2122G>A, NM_182755.2:c.2122G>A, XM_017015869.3:c.2122G>A, XM_017015869.2:c.2122G>A, XM_017015869.1:c.2122G>A, XM_017015863.3:c.2155G>A, XM_017015863.2:c.2155G>A, XM_017015863.1:c.2155G>A, NM_001143769.2:c.1975G>A, NM_001143769.1:c.1975G>A, XM_024447868.2:c.2122G>A, XM_024447868.1:c.2122G>A, XM_024447869.2:c.2122G>A, XM_024447869.1:c.2122G>A, NM_001143770.2:c.2092G>A, NM_001143770.1:c.2092G>A, NM_001143771.2:c.2092G>A, NM_001143771.1:c.2092G>A, XM_024447871.2:c.2122G>A, XM_024447871.1:c.2122G>A, NM_001143766.2:c.2122G>A, NM_001143766.1:c.2122G>A, XM_024447873.2:c.2122G>A, XM_024447873.1:c.2122G>A, XM_024447870.2:c.2122G>A, XM_024447870.1:c.2122G>A, XM_024447872.2:c.2122G>A, XM_024447872.1:c.2122G>A, NM_001143768.2:c.2122G>A, NM_001143768.1:c.2122G>A, NM_001143767.2:c.2122G>A, NM_001143767.1:c.2122G>A, XM_017015877.2:c.814G>A, XM_017015877.1:c.814G>A, NR_026560.2:n.1568G>A, NR_026560.1:n.1640G>A, XM_047424745.1:c.2122G>A, XM_047424742.1:c.2122G>A, XM_047424749.1:c.2122G>A, XM_047424747.1:c.2122G>A, XM_047424723.1:c.2122G>A, XM_047424727.1:c.2122G>A, XM_047424739.1:c.2122G>A, XM_047424732.1:c.2122G>A, XM_047424726.1:c.2122G>A, XM_047424736.1:c.2122G>A, XM_047424729.1:c.2122G>A, XM_047424744.1:c.2122G>A, XM_047424725.1:c.2122G>A, XM_047424733.1:c.2122G>A, XM_047424735.1:c.2122G>A, XM_047424731.1:c.2122G>A, XM_047424730.1:c.2122G>A, XM_047424750.1:c.1975G>A, NM_001387405.1:c.2122G>A, XM_047424724.1:c.2122G>A, XM_047424728.1:c.2122G>A, XM_047424746.1:c.2122G>A, XM_047424734.1:c.2122G>A, XM_047424748.1:c.2122G>A, XM_047424737.1:c.2122G>A, XM_047424738.1:c.2122G>A, XM_047424740.1:c.2122G>A, NM_001387412.1:c.2122G>A, NM_001387411.1:c.2122G>A, XM_047424741.1:c.2122G>A, NR_170660.1:n.1590G>A, NR_170659.1:n.1491G>A, XP_006717462.1:p.Gly698Arg, XP_011517675.1:p.Gly708Arg, XP_016871359.1:p.Gly708Arg, XP_011517678.1:p.Gly698Arg, XP_011517676.1:p.Gly708Arg, XP_011517679.1:p.Gly698Arg, XP_011517674.1:p.Gly708Arg, NP_877432.1:p.Gly708Arg, XP_016871358.1:p.Gly708Arg, XP_016871352.1:p.Gly719Arg, NP_001137241.1:p.Gly659Arg, XP_024303636.1:p.Gly708Arg, XP_024303637.1:p.Gly708Arg, NP_001137242.1:p.Gly698Arg, NP_001137243.1:p.Gly698Arg, XP_024303639.1:p.Gly708Arg, NP_001137238.1:p.Gly708Arg, XP_024303641.1:p.Gly708Arg, XP_024303638.1:p.Gly708Arg, XP_024303640.1:p.Gly708Arg, NP_001137240.1:p.Gly708Arg, NP_001137239.1:p.Gly708Arg, XP_016871366.1:p.Gly272Arg, XP_047280701.1:p.Gly708Arg, XP_047280698.1:p.Gly708Arg, XP_047280705.1:p.Gly708Arg, XP_047280703.1:p.Gly708Arg, XP_047280679.1:p.Gly708Arg, XP_047280683.1:p.Gly708Arg, XP_047280695.1:p.Gly708Arg, XP_047280688.1:p.Gly708Arg, XP_047280682.1:p.Gly708Arg, XP_047280692.1:p.Gly708Arg, XP_047280685.1:p.Gly708Arg, XP_047280700.1:p.Gly708Arg, XP_047280681.1:p.Gly708Arg, XP_047280689.1:p.Gly708Arg, XP_047280691.1:p.Gly708Arg, XP_047280687.1:p.Gly708Arg, XP_047280686.1:p.Gly708Arg, XP_047280706.1:p.Gly659Arg, NP_001374334.1:p.Gly708Arg, XP_047280680.1:p.Gly708Arg, XP_047280684.1:p.Gly708Arg, XP_047280702.1:p.Gly708Arg, XP_047280690.1:p.Gly708Arg, XP_047280704.1:p.Gly708Arg, XP_047280693.1:p.Gly708Arg, XP_047280694.1:p.Gly708Arg, XP_047280696.1:p.Gly708Arg, NP_001374341.1:p.Gly708Arg, NP_001374340.1:p.Gly708Arg, XP_047280697.1:p.Gly708Arg

    2.

    rs1490063012 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      10:30845036 (GRCh38)
      10:31133965 (GRCh37)
      Canonical SPDI:
      NC_000010.11:30845035:A:G
      Gene:
      ZNF438 (Varview)
      Functional Consequence:
      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000047/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.30845036A>G, NC_000010.10:g.31133965A>G, XM_006717399.4:c.2382T>C, XM_006717399.3:c.2382T>C, XM_006717399.2:c.2382T>C, XM_006717399.1:c.2382T>C, XM_011519373.4:c.2412T>C, XM_011519373.3:c.2412T>C, XM_011519373.2:c.2412T>C, XM_011519373.1:c.2412T>C, XM_017015870.3:c.2412T>C, XM_017015870.2:c.2412T>C, XM_017015870.1:c.2412T>C, XM_011519376.3:c.2382T>C, XM_011519376.2:c.2382T>C, XM_011519376.1:c.2382T>C, XM_011519374.3:c.2412T>C, XM_011519374.2:c.2412T>C, XM_011519374.1:c.2412T>C, XM_011519377.3:c.2382T>C, XM_011519377.2:c.2382T>C, XM_011519377.1:c.2382T>C, XM_011519372.3:c.2412T>C, XM_011519372.2:c.2412T>C, XM_011519372.1:c.2412T>C, NM_182755.3:c.2412T>C, NM_182755.2:c.2412T>C, XM_017015869.3:c.2412T>C, XM_017015869.2:c.2412T>C, XM_017015869.1:c.2412T>C, XM_017015863.3:c.2445T>C, XM_017015863.2:c.2445T>C, XM_017015863.1:c.2445T>C, NM_001143769.2:c.2265T>C, NM_001143769.1:c.2265T>C, XM_024447868.2:c.2412T>C, XM_024447868.1:c.2412T>C, XM_024447869.2:c.2412T>C, XM_024447869.1:c.2412T>C, NM_001143770.2:c.2382T>C, NM_001143770.1:c.2382T>C, NM_001143771.2:c.2382T>C, NM_001143771.1:c.2382T>C, XM_024447871.2:c.2412T>C, XM_024447871.1:c.2412T>C, NM_001143766.2:c.2412T>C, NM_001143766.1:c.2412T>C, XM_024447873.2:c.2412T>C, XM_024447873.1:c.2412T>C, XM_024447870.2:c.2412T>C, XM_024447870.1:c.2412T>C, XM_024447872.2:c.2412T>C, XM_024447872.1:c.2412T>C, NM_001143768.2:c.2412T>C, NM_001143768.1:c.2412T>C, NM_001143767.2:c.2412T>C, NM_001143767.1:c.2412T>C, XM_017015877.2:c.1104T>C, XM_017015877.1:c.1104T>C, NR_026560.2:n.1858T>C, NR_026560.1:n.1930T>C, XM_047424745.1:c.2412T>C, XM_047424742.1:c.2412T>C, XM_047424749.1:c.2412T>C, XM_047424747.1:c.2412T>C, XM_047424723.1:c.2412T>C, XM_047424727.1:c.2412T>C, XM_047424739.1:c.2412T>C, XM_047424732.1:c.2412T>C, XM_047424726.1:c.2412T>C, XM_047424736.1:c.2412T>C, XM_047424729.1:c.2412T>C, XM_047424744.1:c.2412T>C, XM_047424725.1:c.2412T>C, XM_047424733.1:c.2412T>C, XM_047424735.1:c.2412T>C, XM_047424731.1:c.2412T>C, XM_047424730.1:c.2412T>C, XM_047424750.1:c.2265T>C, NM_001387405.1:c.2412T>C, XM_047424724.1:c.2412T>C, XM_047424728.1:c.2412T>C, XM_047424746.1:c.2412T>C, XM_047424734.1:c.2412T>C, XM_047424748.1:c.2412T>C, XM_047424737.1:c.2412T>C, XM_047424738.1:c.2412T>C, XM_047424740.1:c.2412T>C, NM_001387412.1:c.2412T>C, NM_001387411.1:c.2412T>C, XM_047424741.1:c.2412T>C, NR_170660.1:n.1880T>C, NR_170659.1:n.1781T>C

      3.

      rs1487010055 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,G [Show Flanks]
        Chromosome:
        10:30849170 (GRCh38)
        10:31138099 (GRCh37)
        Canonical SPDI:
        NC_000010.11:30849169:T:A,NC_000010.11:30849169:T:G
        Gene:
        ZNF438 (Varview)
        Functional Consequence:
        coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000010.11:g.30849170T>A, NC_000010.11:g.30849170T>G, NC_000010.10:g.31138099T>A, NC_000010.10:g.31138099T>G, XM_006717399.4:c.1205A>T, XM_006717399.4:c.1205A>C, XM_006717399.3:c.1205A>T, XM_006717399.3:c.1205A>C, XM_006717399.2:c.1205A>T, XM_006717399.2:c.1205A>C, XM_006717399.1:c.1205A>T, XM_006717399.1:c.1205A>C, XM_011519373.4:c.1235A>T, XM_011519373.4:c.1235A>C, XM_011519373.3:c.1235A>T, XM_011519373.3:c.1235A>C, XM_011519373.2:c.1235A>T, XM_011519373.2:c.1235A>C, XM_011519373.1:c.1235A>T, XM_011519373.1:c.1235A>C, XM_017015870.3:c.1235A>T, XM_017015870.3:c.1235A>C, XM_017015870.2:c.1235A>T, XM_017015870.2:c.1235A>C, XM_017015870.1:c.1235A>T, XM_017015870.1:c.1235A>C, XM_011519376.3:c.1205A>T, XM_011519376.3:c.1205A>C, XM_011519376.2:c.1205A>T, XM_011519376.2:c.1205A>C, XM_011519376.1:c.1205A>T, XM_011519376.1:c.1205A>C, XM_011519374.3:c.1235A>T, XM_011519374.3:c.1235A>C, XM_011519374.2:c.1235A>T, XM_011519374.2:c.1235A>C, XM_011519374.1:c.1235A>T, XM_011519374.1:c.1235A>C, XM_011519377.3:c.1205A>T, XM_011519377.3:c.1205A>C, XM_011519377.2:c.1205A>T, XM_011519377.2:c.1205A>C, XM_011519377.1:c.1205A>T, XM_011519377.1:c.1205A>C, XM_011519372.3:c.1235A>T, XM_011519372.3:c.1235A>C, XM_011519372.2:c.1235A>T, XM_011519372.2:c.1235A>C, XM_011519372.1:c.1235A>T, XM_011519372.1:c.1235A>C, NM_182755.3:c.1235A>T, NM_182755.3:c.1235A>C, NM_182755.2:c.1235A>T, NM_182755.2:c.1235A>C, XM_017015869.3:c.1235A>T, XM_017015869.3:c.1235A>C, XM_017015869.2:c.1235A>T, XM_017015869.2:c.1235A>C, XM_017015869.1:c.1235A>T, XM_017015869.1:c.1235A>C, XM_017015863.3:c.1268A>T, XM_017015863.3:c.1268A>C, XM_017015863.2:c.1268A>T, XM_017015863.2:c.1268A>C, XM_017015863.1:c.1268A>T, XM_017015863.1:c.1268A>C, NM_001143769.2:c.1088A>T, NM_001143769.2:c.1088A>C, NM_001143769.1:c.1088A>T, NM_001143769.1:c.1088A>C, XM_024447868.2:c.1235A>T, XM_024447868.2:c.1235A>C, XM_024447868.1:c.1235A>T, XM_024447868.1:c.1235A>C, XM_024447869.2:c.1235A>T, XM_024447869.2:c.1235A>C, XM_024447869.1:c.1235A>T, XM_024447869.1:c.1235A>C, NM_001143770.2:c.1205A>T, NM_001143770.2:c.1205A>C, NM_001143770.1:c.1205A>T, NM_001143770.1:c.1205A>C, NM_001143771.2:c.1205A>T, NM_001143771.2:c.1205A>C, NM_001143771.1:c.1205A>T, NM_001143771.1:c.1205A>C, XM_024447871.2:c.1235A>T, XM_024447871.2:c.1235A>C, XM_024447871.1:c.1235A>T, XM_024447871.1:c.1235A>C, NM_001143766.2:c.1235A>T, NM_001143766.2:c.1235A>C, NM_001143766.1:c.1235A>T, NM_001143766.1:c.1235A>C, XM_024447873.2:c.1235A>T, XM_024447873.2:c.1235A>C, XM_024447873.1:c.1235A>T, XM_024447873.1:c.1235A>C, XM_024447870.2:c.1235A>T, XM_024447870.2:c.1235A>C, XM_024447870.1:c.1235A>T, XM_024447870.1:c.1235A>C, XM_024447872.2:c.1235A>T, XM_024447872.2:c.1235A>C, XM_024447872.1:c.1235A>T, XM_024447872.1:c.1235A>C, NM_001143768.2:c.1235A>T, NM_001143768.2:c.1235A>C, NM_001143768.1:c.1235A>T, NM_001143768.1:c.1235A>C, NM_001143767.2:c.1235A>T, NM_001143767.2:c.1235A>C, NM_001143767.1:c.1235A>T, NM_001143767.1:c.1235A>C, XM_017015877.2:c.-74A>T, XM_017015877.2:c.-74A>C, XM_017015877.1:c.-74A>T, XM_017015877.1:c.-74A>C, NR_026560.2:n.681A>T, NR_026560.2:n.681A>C, NR_026560.1:n.753A>T, NR_026560.1:n.753A>C, XM_047424745.1:c.1235A>T, XM_047424745.1:c.1235A>C, XM_047424742.1:c.1235A>T, XM_047424742.1:c.1235A>C, XM_047424749.1:c.1235A>T, XM_047424749.1:c.1235A>C, XM_047424747.1:c.1235A>T, XM_047424747.1:c.1235A>C, XM_047424723.1:c.1235A>T, XM_047424723.1:c.1235A>C, XM_047424727.1:c.1235A>T, XM_047424727.1:c.1235A>C, XM_047424739.1:c.1235A>T, XM_047424739.1:c.1235A>C, XM_047424732.1:c.1235A>T, XM_047424732.1:c.1235A>C, XM_047424726.1:c.1235A>T, XM_047424726.1:c.1235A>C, XM_047424736.1:c.1235A>T, XM_047424736.1:c.1235A>C, XM_047424729.1:c.1235A>T, XM_047424729.1:c.1235A>C, XM_047424744.1:c.1235A>T, XM_047424744.1:c.1235A>C, XM_047424725.1:c.1235A>T, XM_047424725.1:c.1235A>C, XM_047424733.1:c.1235A>T, XM_047424733.1:c.1235A>C, XM_047424735.1:c.1235A>T, XM_047424735.1:c.1235A>C, XM_047424731.1:c.1235A>T, XM_047424731.1:c.1235A>C, XM_047424730.1:c.1235A>T, XM_047424730.1:c.1235A>C, XM_047424750.1:c.1088A>T, XM_047424750.1:c.1088A>C, NM_001387405.1:c.1235A>T, NM_001387405.1:c.1235A>C, XM_047424724.1:c.1235A>T, XM_047424724.1:c.1235A>C, XM_047424728.1:c.1235A>T, XM_047424728.1:c.1235A>C, XM_047424746.1:c.1235A>T, XM_047424746.1:c.1235A>C, XM_047424734.1:c.1235A>T, XM_047424734.1:c.1235A>C, XM_047424748.1:c.1235A>T, XM_047424748.1:c.1235A>C, XM_047424737.1:c.1235A>T, XM_047424737.1:c.1235A>C, XM_047424738.1:c.1235A>T, XM_047424738.1:c.1235A>C, XM_047424740.1:c.1235A>T, XM_047424740.1:c.1235A>C, NM_001387412.1:c.1235A>T, NM_001387412.1:c.1235A>C, NM_001387411.1:c.1235A>T, NM_001387411.1:c.1235A>C, XM_047424741.1:c.1235A>T, XM_047424741.1:c.1235A>C, NR_170660.1:n.703A>T, NR_170660.1:n.703A>C, NR_170659.1:n.604A>T, NR_170659.1:n.604A>C, XP_006717462.1:p.Lys402Ile, XP_006717462.1:p.Lys402Thr, XP_011517675.1:p.Lys412Ile, XP_011517675.1:p.Lys412Thr, XP_016871359.1:p.Lys412Ile, XP_016871359.1:p.Lys412Thr, XP_011517678.1:p.Lys402Ile, XP_011517678.1:p.Lys402Thr, XP_011517676.1:p.Lys412Ile, XP_011517676.1:p.Lys412Thr, XP_011517679.1:p.Lys402Ile, XP_011517679.1:p.Lys402Thr, XP_011517674.1:p.Lys412Ile, XP_011517674.1:p.Lys412Thr, NP_877432.1:p.Lys412Ile, NP_877432.1:p.Lys412Thr, XP_016871358.1:p.Lys412Ile, XP_016871358.1:p.Lys412Thr, XP_016871352.1:p.Lys423Ile, XP_016871352.1:p.Lys423Thr, NP_001137241.1:p.Lys363Ile, NP_001137241.1:p.Lys363Thr, XP_024303636.1:p.Lys412Ile, XP_024303636.1:p.Lys412Thr, XP_024303637.1:p.Lys412Ile, XP_024303637.1:p.Lys412Thr, NP_001137242.1:p.Lys402Ile, NP_001137242.1:p.Lys402Thr, NP_001137243.1:p.Lys402Ile, NP_001137243.1:p.Lys402Thr, XP_024303639.1:p.Lys412Ile, XP_024303639.1:p.Lys412Thr, NP_001137238.1:p.Lys412Ile, NP_001137238.1:p.Lys412Thr, XP_024303641.1:p.Lys412Ile, XP_024303641.1:p.Lys412Thr, XP_024303638.1:p.Lys412Ile, XP_024303638.1:p.Lys412Thr, XP_024303640.1:p.Lys412Ile, XP_024303640.1:p.Lys412Thr, NP_001137240.1:p.Lys412Ile, NP_001137240.1:p.Lys412Thr, NP_001137239.1:p.Lys412Ile, NP_001137239.1:p.Lys412Thr, XP_047280701.1:p.Lys412Ile, XP_047280701.1:p.Lys412Thr, XP_047280698.1:p.Lys412Ile, XP_047280698.1:p.Lys412Thr, XP_047280705.1:p.Lys412Ile, XP_047280705.1:p.Lys412Thr, XP_047280703.1:p.Lys412Ile, XP_047280703.1:p.Lys412Thr, XP_047280679.1:p.Lys412Ile, XP_047280679.1:p.Lys412Thr, XP_047280683.1:p.Lys412Ile, XP_047280683.1:p.Lys412Thr, XP_047280695.1:p.Lys412Ile, XP_047280695.1:p.Lys412Thr, XP_047280688.1:p.Lys412Ile, XP_047280688.1:p.Lys412Thr, XP_047280682.1:p.Lys412Ile, XP_047280682.1:p.Lys412Thr, XP_047280692.1:p.Lys412Ile, XP_047280692.1:p.Lys412Thr, XP_047280685.1:p.Lys412Ile, XP_047280685.1:p.Lys412Thr, XP_047280700.1:p.Lys412Ile, XP_047280700.1:p.Lys412Thr, XP_047280681.1:p.Lys412Ile, XP_047280681.1:p.Lys412Thr, XP_047280689.1:p.Lys412Ile, XP_047280689.1:p.Lys412Thr, XP_047280691.1:p.Lys412Ile, XP_047280691.1:p.Lys412Thr, XP_047280687.1:p.Lys412Ile, XP_047280687.1:p.Lys412Thr, XP_047280686.1:p.Lys412Ile, XP_047280686.1:p.Lys412Thr, XP_047280706.1:p.Lys363Ile, XP_047280706.1:p.Lys363Thr, NP_001374334.1:p.Lys412Ile, NP_001374334.1:p.Lys412Thr, XP_047280680.1:p.Lys412Ile, XP_047280680.1:p.Lys412Thr, XP_047280684.1:p.Lys412Ile, XP_047280684.1:p.Lys412Thr, XP_047280702.1:p.Lys412Ile, XP_047280702.1:p.Lys412Thr, XP_047280690.1:p.Lys412Ile, XP_047280690.1:p.Lys412Thr, XP_047280704.1:p.Lys412Ile, XP_047280704.1:p.Lys412Thr, XP_047280693.1:p.Lys412Ile, XP_047280693.1:p.Lys412Thr, XP_047280694.1:p.Lys412Ile, XP_047280694.1:p.Lys412Thr, XP_047280696.1:p.Lys412Ile, XP_047280696.1:p.Lys412Thr, NP_001374341.1:p.Lys412Ile, NP_001374341.1:p.Lys412Thr, NP_001374340.1:p.Lys412Ile, NP_001374340.1:p.Lys412Thr, XP_047280697.1:p.Lys412Ile, XP_047280697.1:p.Lys412Thr

        4.

        rs1486626725 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          10:30848706 (GRCh38)
          10:31137635 (GRCh37)
          Canonical SPDI:
          NC_000010.11:30848705:T:A
          Gene:
          ZNF438 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000010.11:g.30848706T>A, NC_000010.10:g.31137635T>A, XM_006717399.4:c.1669A>T, XM_006717399.3:c.1669A>T, XM_006717399.2:c.1669A>T, XM_006717399.1:c.1669A>T, XM_011519373.4:c.1699A>T, XM_011519373.3:c.1699A>T, XM_011519373.2:c.1699A>T, XM_011519373.1:c.1699A>T, XM_017015870.3:c.1699A>T, XM_017015870.2:c.1699A>T, XM_017015870.1:c.1699A>T, XM_011519376.3:c.1669A>T, XM_011519376.2:c.1669A>T, XM_011519376.1:c.1669A>T, XM_011519374.3:c.1699A>T, XM_011519374.2:c.1699A>T, XM_011519374.1:c.1699A>T, XM_011519377.3:c.1669A>T, XM_011519377.2:c.1669A>T, XM_011519377.1:c.1669A>T, XM_011519372.3:c.1699A>T, XM_011519372.2:c.1699A>T, XM_011519372.1:c.1699A>T, NM_182755.3:c.1699A>T, NM_182755.2:c.1699A>T, XM_017015869.3:c.1699A>T, XM_017015869.2:c.1699A>T, XM_017015869.1:c.1699A>T, XM_017015863.3:c.1732A>T, XM_017015863.2:c.1732A>T, XM_017015863.1:c.1732A>T, NM_001143769.2:c.1552A>T, NM_001143769.1:c.1552A>T, XM_024447868.2:c.1699A>T, XM_024447868.1:c.1699A>T, XM_024447869.2:c.1699A>T, XM_024447869.1:c.1699A>T, NM_001143770.2:c.1669A>T, NM_001143770.1:c.1669A>T, NM_001143771.2:c.1669A>T, NM_001143771.1:c.1669A>T, XM_024447871.2:c.1699A>T, XM_024447871.1:c.1699A>T, NM_001143766.2:c.1699A>T, NM_001143766.1:c.1699A>T, XM_024447873.2:c.1699A>T, XM_024447873.1:c.1699A>T, XM_024447870.2:c.1699A>T, XM_024447870.1:c.1699A>T, XM_024447872.2:c.1699A>T, XM_024447872.1:c.1699A>T, NM_001143768.2:c.1699A>T, NM_001143768.1:c.1699A>T, NM_001143767.2:c.1699A>T, NM_001143767.1:c.1699A>T, XM_017015877.2:c.391A>T, XM_017015877.1:c.391A>T, NR_026560.2:n.1145A>T, NR_026560.1:n.1217A>T, XM_047424745.1:c.1699A>T, XM_047424742.1:c.1699A>T, XM_047424749.1:c.1699A>T, XM_047424747.1:c.1699A>T, XM_047424723.1:c.1699A>T, XM_047424727.1:c.1699A>T, XM_047424739.1:c.1699A>T, XM_047424732.1:c.1699A>T, XM_047424726.1:c.1699A>T, XM_047424736.1:c.1699A>T, XM_047424729.1:c.1699A>T, XM_047424744.1:c.1699A>T, XM_047424725.1:c.1699A>T, XM_047424733.1:c.1699A>T, XM_047424735.1:c.1699A>T, XM_047424731.1:c.1699A>T, XM_047424730.1:c.1699A>T, XM_047424750.1:c.1552A>T, NM_001387405.1:c.1699A>T, XM_047424724.1:c.1699A>T, XM_047424728.1:c.1699A>T, XM_047424746.1:c.1699A>T, XM_047424734.1:c.1699A>T, XM_047424748.1:c.1699A>T, XM_047424737.1:c.1699A>T, XM_047424738.1:c.1699A>T, XM_047424740.1:c.1699A>T, NM_001387412.1:c.1699A>T, NM_001387411.1:c.1699A>T, XM_047424741.1:c.1699A>T, NR_170660.1:n.1167A>T, NR_170659.1:n.1068A>T, XP_006717462.1:p.Met557Leu, XP_011517675.1:p.Met567Leu, XP_016871359.1:p.Met567Leu, XP_011517678.1:p.Met557Leu, XP_011517676.1:p.Met567Leu, XP_011517679.1:p.Met557Leu, XP_011517674.1:p.Met567Leu, NP_877432.1:p.Met567Leu, XP_016871358.1:p.Met567Leu, XP_016871352.1:p.Met578Leu, NP_001137241.1:p.Met518Leu, XP_024303636.1:p.Met567Leu, XP_024303637.1:p.Met567Leu, NP_001137242.1:p.Met557Leu, NP_001137243.1:p.Met557Leu, XP_024303639.1:p.Met567Leu, NP_001137238.1:p.Met567Leu, XP_024303641.1:p.Met567Leu, XP_024303638.1:p.Met567Leu, XP_024303640.1:p.Met567Leu, NP_001137240.1:p.Met567Leu, NP_001137239.1:p.Met567Leu, XP_016871366.1:p.Met131Leu, XP_047280701.1:p.Met567Leu, XP_047280698.1:p.Met567Leu, XP_047280705.1:p.Met567Leu, XP_047280703.1:p.Met567Leu, XP_047280679.1:p.Met567Leu, XP_047280683.1:p.Met567Leu, XP_047280695.1:p.Met567Leu, XP_047280688.1:p.Met567Leu, XP_047280682.1:p.Met567Leu, XP_047280692.1:p.Met567Leu, XP_047280685.1:p.Met567Leu, XP_047280700.1:p.Met567Leu, XP_047280681.1:p.Met567Leu, XP_047280689.1:p.Met567Leu, XP_047280691.1:p.Met567Leu, XP_047280687.1:p.Met567Leu, XP_047280686.1:p.Met567Leu, XP_047280706.1:p.Met518Leu, NP_001374334.1:p.Met567Leu, XP_047280680.1:p.Met567Leu, XP_047280684.1:p.Met567Leu, XP_047280702.1:p.Met567Leu, XP_047280690.1:p.Met567Leu, XP_047280704.1:p.Met567Leu, XP_047280693.1:p.Met567Leu, XP_047280694.1:p.Met567Leu, XP_047280696.1:p.Met567Leu, NP_001374341.1:p.Met567Leu, NP_001374340.1:p.Met567Leu, XP_047280697.1:p.Met567Leu

          5.

          rs1486114638 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            10:30848800 (GRCh38)
            10:31137729 (GRCh37)
            Canonical SPDI:
            NC_000010.11:30848799:G:A,NC_000010.11:30848799:G:C
            Gene:
            ZNF438 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,stop_gained,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            HGVS:
            NC_000010.11:g.30848800G>A, NC_000010.11:g.30848800G>C, NC_000010.10:g.31137729G>A, NC_000010.10:g.31137729G>C, XM_006717399.4:c.1575C>T, XM_006717399.4:c.1575C>G, XM_006717399.3:c.1575C>T, XM_006717399.3:c.1575C>G, XM_006717399.2:c.1575C>T, XM_006717399.2:c.1575C>G, XM_006717399.1:c.1575C>T, XM_006717399.1:c.1575C>G, XM_011519373.4:c.1605C>T, XM_011519373.4:c.1605C>G, XM_011519373.3:c.1605C>T, XM_011519373.3:c.1605C>G, XM_011519373.2:c.1605C>T, XM_011519373.2:c.1605C>G, XM_011519373.1:c.1605C>T, XM_011519373.1:c.1605C>G, XM_017015870.3:c.1605C>T, XM_017015870.3:c.1605C>G, XM_017015870.2:c.1605C>T, XM_017015870.2:c.1605C>G, XM_017015870.1:c.1605C>T, XM_017015870.1:c.1605C>G, XM_011519376.3:c.1575C>T, XM_011519376.3:c.1575C>G, XM_011519376.2:c.1575C>T, XM_011519376.2:c.1575C>G, XM_011519376.1:c.1575C>T, XM_011519376.1:c.1575C>G, XM_011519374.3:c.1605C>T, XM_011519374.3:c.1605C>G, XM_011519374.2:c.1605C>T, XM_011519374.2:c.1605C>G, XM_011519374.1:c.1605C>T, XM_011519374.1:c.1605C>G, XM_011519377.3:c.1575C>T, XM_011519377.3:c.1575C>G, XM_011519377.2:c.1575C>T, XM_011519377.2:c.1575C>G, XM_011519377.1:c.1575C>T, XM_011519377.1:c.1575C>G, XM_011519372.3:c.1605C>T, XM_011519372.3:c.1605C>G, XM_011519372.2:c.1605C>T, XM_011519372.2:c.1605C>G, XM_011519372.1:c.1605C>T, XM_011519372.1:c.1605C>G, NM_182755.3:c.1605C>T, NM_182755.3:c.1605C>G, NM_182755.2:c.1605C>T, NM_182755.2:c.1605C>G, XM_017015869.3:c.1605C>T, XM_017015869.3:c.1605C>G, XM_017015869.2:c.1605C>T, XM_017015869.2:c.1605C>G, XM_017015869.1:c.1605C>T, XM_017015869.1:c.1605C>G, XM_017015863.3:c.1638C>T, XM_017015863.3:c.1638C>G, XM_017015863.2:c.1638C>T, XM_017015863.2:c.1638C>G, XM_017015863.1:c.1638C>T, XM_017015863.1:c.1638C>G, NM_001143769.2:c.1458C>T, NM_001143769.2:c.1458C>G, NM_001143769.1:c.1458C>T, NM_001143769.1:c.1458C>G, XM_024447868.2:c.1605C>T, XM_024447868.2:c.1605C>G, XM_024447868.1:c.1605C>T, XM_024447868.1:c.1605C>G, XM_024447869.2:c.1605C>T, XM_024447869.2:c.1605C>G, XM_024447869.1:c.1605C>T, XM_024447869.1:c.1605C>G, NM_001143770.2:c.1575C>T, NM_001143770.2:c.1575C>G, NM_001143770.1:c.1575C>T, NM_001143770.1:c.1575C>G, NM_001143771.2:c.1575C>T, NM_001143771.2:c.1575C>G, NM_001143771.1:c.1575C>T, NM_001143771.1:c.1575C>G, XM_024447871.2:c.1605C>T, XM_024447871.2:c.1605C>G, XM_024447871.1:c.1605C>T, XM_024447871.1:c.1605C>G, NM_001143766.2:c.1605C>T, NM_001143766.2:c.1605C>G, NM_001143766.1:c.1605C>T, NM_001143766.1:c.1605C>G, XM_024447873.2:c.1605C>T, XM_024447873.2:c.1605C>G, XM_024447873.1:c.1605C>T, XM_024447873.1:c.1605C>G, XM_024447870.2:c.1605C>T, XM_024447870.2:c.1605C>G, XM_024447870.1:c.1605C>T, XM_024447870.1:c.1605C>G, XM_024447872.2:c.1605C>T, XM_024447872.2:c.1605C>G, XM_024447872.1:c.1605C>T, XM_024447872.1:c.1605C>G, NM_001143768.2:c.1605C>T, NM_001143768.2:c.1605C>G, NM_001143768.1:c.1605C>T, NM_001143768.1:c.1605C>G, NM_001143767.2:c.1605C>T, NM_001143767.2:c.1605C>G, NM_001143767.1:c.1605C>T, NM_001143767.1:c.1605C>G, XM_017015877.2:c.297C>T, XM_017015877.2:c.297C>G, XM_017015877.1:c.297C>T, XM_017015877.1:c.297C>G, NR_026560.2:n.1051C>T, NR_026560.2:n.1051C>G, NR_026560.1:n.1123C>T, NR_026560.1:n.1123C>G, XM_047424745.1:c.1605C>T, XM_047424745.1:c.1605C>G, XM_047424742.1:c.1605C>T, XM_047424742.1:c.1605C>G, XM_047424749.1:c.1605C>T, XM_047424749.1:c.1605C>G, XM_047424747.1:c.1605C>T, XM_047424747.1:c.1605C>G, XM_047424723.1:c.1605C>T, XM_047424723.1:c.1605C>G, XM_047424727.1:c.1605C>T, XM_047424727.1:c.1605C>G, XM_047424739.1:c.1605C>T, XM_047424739.1:c.1605C>G, XM_047424732.1:c.1605C>T, XM_047424732.1:c.1605C>G, XM_047424726.1:c.1605C>T, XM_047424726.1:c.1605C>G, XM_047424736.1:c.1605C>T, XM_047424736.1:c.1605C>G, XM_047424729.1:c.1605C>T, XM_047424729.1:c.1605C>G, XM_047424744.1:c.1605C>T, XM_047424744.1:c.1605C>G, XM_047424725.1:c.1605C>T, XM_047424725.1:c.1605C>G, XM_047424733.1:c.1605C>T, XM_047424733.1:c.1605C>G, XM_047424735.1:c.1605C>T, XM_047424735.1:c.1605C>G, XM_047424731.1:c.1605C>T, XM_047424731.1:c.1605C>G, XM_047424730.1:c.1605C>T, XM_047424730.1:c.1605C>G, XM_047424750.1:c.1458C>T, XM_047424750.1:c.1458C>G, NM_001387405.1:c.1605C>T, NM_001387405.1:c.1605C>G, XM_047424724.1:c.1605C>T, XM_047424724.1:c.1605C>G, XM_047424728.1:c.1605C>T, XM_047424728.1:c.1605C>G, XM_047424746.1:c.1605C>T, XM_047424746.1:c.1605C>G, XM_047424734.1:c.1605C>T, XM_047424734.1:c.1605C>G, XM_047424748.1:c.1605C>T, XM_047424748.1:c.1605C>G, XM_047424737.1:c.1605C>T, XM_047424737.1:c.1605C>G, XM_047424738.1:c.1605C>T, XM_047424738.1:c.1605C>G, XM_047424740.1:c.1605C>T, XM_047424740.1:c.1605C>G, NM_001387412.1:c.1605C>T, NM_001387412.1:c.1605C>G, NM_001387411.1:c.1605C>T, NM_001387411.1:c.1605C>G, XM_047424741.1:c.1605C>T, XM_047424741.1:c.1605C>G, NR_170660.1:n.1073C>T, NR_170660.1:n.1073C>G, NR_170659.1:n.974C>T, NR_170659.1:n.974C>G, XP_006717462.1:p.Tyr525Ter, XP_011517675.1:p.Tyr535Ter, XP_016871359.1:p.Tyr535Ter, XP_011517678.1:p.Tyr525Ter, XP_011517676.1:p.Tyr535Ter, XP_011517679.1:p.Tyr525Ter, XP_011517674.1:p.Tyr535Ter, NP_877432.1:p.Tyr535Ter, XP_016871358.1:p.Tyr535Ter, XP_016871352.1:p.Tyr546Ter, NP_001137241.1:p.Tyr486Ter, XP_024303636.1:p.Tyr535Ter, XP_024303637.1:p.Tyr535Ter, NP_001137242.1:p.Tyr525Ter, NP_001137243.1:p.Tyr525Ter, XP_024303639.1:p.Tyr535Ter, NP_001137238.1:p.Tyr535Ter, XP_024303641.1:p.Tyr535Ter, XP_024303638.1:p.Tyr535Ter, XP_024303640.1:p.Tyr535Ter, NP_001137240.1:p.Tyr535Ter, NP_001137239.1:p.Tyr535Ter, XP_016871366.1:p.Tyr99Ter, XP_047280701.1:p.Tyr535Ter, XP_047280698.1:p.Tyr535Ter, XP_047280705.1:p.Tyr535Ter, XP_047280703.1:p.Tyr535Ter, XP_047280679.1:p.Tyr535Ter, XP_047280683.1:p.Tyr535Ter, XP_047280695.1:p.Tyr535Ter, XP_047280688.1:p.Tyr535Ter, XP_047280682.1:p.Tyr535Ter, XP_047280692.1:p.Tyr535Ter, XP_047280685.1:p.Tyr535Ter, XP_047280700.1:p.Tyr535Ter, XP_047280681.1:p.Tyr535Ter, XP_047280689.1:p.Tyr535Ter, XP_047280691.1:p.Tyr535Ter, XP_047280687.1:p.Tyr535Ter, XP_047280686.1:p.Tyr535Ter, XP_047280706.1:p.Tyr486Ter, NP_001374334.1:p.Tyr535Ter, XP_047280680.1:p.Tyr535Ter, XP_047280684.1:p.Tyr535Ter, XP_047280702.1:p.Tyr535Ter, XP_047280690.1:p.Tyr535Ter, XP_047280704.1:p.Tyr535Ter, XP_047280693.1:p.Tyr535Ter, XP_047280694.1:p.Tyr535Ter, XP_047280696.1:p.Tyr535Ter, NP_001374341.1:p.Tyr535Ter, NP_001374340.1:p.Tyr535Ter, XP_047280697.1:p.Tyr535Ter

            6.

            rs1484939186 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              10:30849443 (GRCh38)
              10:31138372 (GRCh37)
              Canonical SPDI:
              NC_000010.11:30849442:C:A,NC_000010.11:30849442:C:T
              Gene:
              ZNF438 (Varview)
              Functional Consequence:
              coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000010.11:g.30849443C>A, NC_000010.11:g.30849443C>T, NC_000010.10:g.31138372C>A, NC_000010.10:g.31138372C>T, XM_006717399.4:c.932G>T, XM_006717399.4:c.932G>A, XM_006717399.3:c.932G>T, XM_006717399.3:c.932G>A, XM_006717399.2:c.932G>T, XM_006717399.2:c.932G>A, XM_006717399.1:c.932G>T, XM_006717399.1:c.932G>A, XM_011519373.4:c.962G>T, XM_011519373.4:c.962G>A, XM_011519373.3:c.962G>T, XM_011519373.3:c.962G>A, XM_011519373.2:c.962G>T, XM_011519373.2:c.962G>A, XM_011519373.1:c.962G>T, XM_011519373.1:c.962G>A, XM_017015870.3:c.962G>T, XM_017015870.3:c.962G>A, XM_017015870.2:c.962G>T, XM_017015870.2:c.962G>A, XM_017015870.1:c.962G>T, XM_017015870.1:c.962G>A, XM_011519376.3:c.932G>T, XM_011519376.3:c.932G>A, XM_011519376.2:c.932G>T, XM_011519376.2:c.932G>A, XM_011519376.1:c.932G>T, XM_011519376.1:c.932G>A, XM_011519374.3:c.962G>T, XM_011519374.3:c.962G>A, XM_011519374.2:c.962G>T, XM_011519374.2:c.962G>A, XM_011519374.1:c.962G>T, XM_011519374.1:c.962G>A, XM_011519377.3:c.932G>T, XM_011519377.3:c.932G>A, XM_011519377.2:c.932G>T, XM_011519377.2:c.932G>A, XM_011519377.1:c.932G>T, XM_011519377.1:c.932G>A, XM_011519372.3:c.962G>T, XM_011519372.3:c.962G>A, XM_011519372.2:c.962G>T, XM_011519372.2:c.962G>A, XM_011519372.1:c.962G>T, XM_011519372.1:c.962G>A, NM_182755.3:c.962G>T, NM_182755.3:c.962G>A, NM_182755.2:c.962G>T, NM_182755.2:c.962G>A, XM_017015869.3:c.962G>T, XM_017015869.3:c.962G>A, XM_017015869.2:c.962G>T, XM_017015869.2:c.962G>A, XM_017015869.1:c.962G>T, XM_017015869.1:c.962G>A, XM_017015863.3:c.995G>T, XM_017015863.3:c.995G>A, XM_017015863.2:c.995G>T, XM_017015863.2:c.995G>A, XM_017015863.1:c.995G>T, XM_017015863.1:c.995G>A, NM_001143769.2:c.815G>T, NM_001143769.2:c.815G>A, NM_001143769.1:c.815G>T, NM_001143769.1:c.815G>A, XM_024447868.2:c.962G>T, XM_024447868.2:c.962G>A, XM_024447868.1:c.962G>T, XM_024447868.1:c.962G>A, XM_024447869.2:c.962G>T, XM_024447869.2:c.962G>A, XM_024447869.1:c.962G>T, XM_024447869.1:c.962G>A, NM_001143770.2:c.932G>T, NM_001143770.2:c.932G>A, NM_001143770.1:c.932G>T, NM_001143770.1:c.932G>A, NM_001143771.2:c.932G>T, NM_001143771.2:c.932G>A, NM_001143771.1:c.932G>T, NM_001143771.1:c.932G>A, XM_024447871.2:c.962G>T, XM_024447871.2:c.962G>A, XM_024447871.1:c.962G>T, XM_024447871.1:c.962G>A, NM_001143766.2:c.962G>T, NM_001143766.2:c.962G>A, NM_001143766.1:c.962G>T, NM_001143766.1:c.962G>A, XM_024447873.2:c.962G>T, XM_024447873.2:c.962G>A, XM_024447873.1:c.962G>T, XM_024447873.1:c.962G>A, XM_024447870.2:c.962G>T, XM_024447870.2:c.962G>A, XM_024447870.1:c.962G>T, XM_024447870.1:c.962G>A, XM_024447872.2:c.962G>T, XM_024447872.2:c.962G>A, XM_024447872.1:c.962G>T, XM_024447872.1:c.962G>A, NM_001143768.2:c.962G>T, NM_001143768.2:c.962G>A, NM_001143768.1:c.962G>T, NM_001143768.1:c.962G>A, NM_001143767.2:c.962G>T, NM_001143767.2:c.962G>A, NM_001143767.1:c.962G>T, NM_001143767.1:c.962G>A, XM_017015877.2:c.-347G>T, XM_017015877.2:c.-347G>A, XM_017015877.1:c.-347G>T, XM_017015877.1:c.-347G>A, NR_026560.2:n.408G>T, NR_026560.2:n.408G>A, NR_026560.1:n.480G>T, NR_026560.1:n.480G>A, XM_047424745.1:c.962G>T, XM_047424745.1:c.962G>A, XM_047424742.1:c.962G>T, XM_047424742.1:c.962G>A, XM_047424749.1:c.962G>T, XM_047424749.1:c.962G>A, XM_047424747.1:c.962G>T, XM_047424747.1:c.962G>A, XM_047424723.1:c.962G>T, XM_047424723.1:c.962G>A, XM_047424727.1:c.962G>T, XM_047424727.1:c.962G>A, XM_047424739.1:c.962G>T, XM_047424739.1:c.962G>A, XM_047424732.1:c.962G>T, XM_047424732.1:c.962G>A, XM_047424726.1:c.962G>T, XM_047424726.1:c.962G>A, XM_047424736.1:c.962G>T, XM_047424736.1:c.962G>A, XM_047424729.1:c.962G>T, XM_047424729.1:c.962G>A, XM_047424744.1:c.962G>T, XM_047424744.1:c.962G>A, XM_047424725.1:c.962G>T, XM_047424725.1:c.962G>A, XM_047424733.1:c.962G>T, XM_047424733.1:c.962G>A, XM_047424735.1:c.962G>T, XM_047424735.1:c.962G>A, XM_047424731.1:c.962G>T, XM_047424731.1:c.962G>A, XM_047424730.1:c.962G>T, XM_047424730.1:c.962G>A, XM_047424750.1:c.815G>T, XM_047424750.1:c.815G>A, NM_001387405.1:c.962G>T, NM_001387405.1:c.962G>A, XM_047424724.1:c.962G>T, XM_047424724.1:c.962G>A, XM_047424728.1:c.962G>T, XM_047424728.1:c.962G>A, XM_047424746.1:c.962G>T, XM_047424746.1:c.962G>A, XM_047424734.1:c.962G>T, XM_047424734.1:c.962G>A, XM_047424748.1:c.962G>T, XM_047424748.1:c.962G>A, XM_047424737.1:c.962G>T, XM_047424737.1:c.962G>A, XM_047424738.1:c.962G>T, XM_047424738.1:c.962G>A, XM_047424740.1:c.962G>T, XM_047424740.1:c.962G>A, NM_001387412.1:c.962G>T, NM_001387412.1:c.962G>A, NM_001387411.1:c.962G>T, NM_001387411.1:c.962G>A, XM_047424741.1:c.962G>T, XM_047424741.1:c.962G>A, NR_170660.1:n.430G>T, NR_170660.1:n.430G>A, NR_170659.1:n.331G>T, NR_170659.1:n.331G>A, XP_006717462.1:p.Gly311Val, XP_006717462.1:p.Gly311Glu, XP_011517675.1:p.Gly321Val, XP_011517675.1:p.Gly321Glu, XP_016871359.1:p.Gly321Val, XP_016871359.1:p.Gly321Glu, XP_011517678.1:p.Gly311Val, XP_011517678.1:p.Gly311Glu, XP_011517676.1:p.Gly321Val, XP_011517676.1:p.Gly321Glu, XP_011517679.1:p.Gly311Val, XP_011517679.1:p.Gly311Glu, XP_011517674.1:p.Gly321Val, XP_011517674.1:p.Gly321Glu, NP_877432.1:p.Gly321Val, NP_877432.1:p.Gly321Glu, XP_016871358.1:p.Gly321Val, XP_016871358.1:p.Gly321Glu, XP_016871352.1:p.Gly332Val, XP_016871352.1:p.Gly332Glu, NP_001137241.1:p.Gly272Val, NP_001137241.1:p.Gly272Glu, XP_024303636.1:p.Gly321Val, XP_024303636.1:p.Gly321Glu, XP_024303637.1:p.Gly321Val, XP_024303637.1:p.Gly321Glu, NP_001137242.1:p.Gly311Val, NP_001137242.1:p.Gly311Glu, NP_001137243.1:p.Gly311Val, NP_001137243.1:p.Gly311Glu, XP_024303639.1:p.Gly321Val, XP_024303639.1:p.Gly321Glu, NP_001137238.1:p.Gly321Val, NP_001137238.1:p.Gly321Glu, XP_024303641.1:p.Gly321Val, XP_024303641.1:p.Gly321Glu, XP_024303638.1:p.Gly321Val, XP_024303638.1:p.Gly321Glu, XP_024303640.1:p.Gly321Val, XP_024303640.1:p.Gly321Glu, NP_001137240.1:p.Gly321Val, NP_001137240.1:p.Gly321Glu, NP_001137239.1:p.Gly321Val, NP_001137239.1:p.Gly321Glu, XP_047280701.1:p.Gly321Val, XP_047280701.1:p.Gly321Glu, XP_047280698.1:p.Gly321Val, XP_047280698.1:p.Gly321Glu, XP_047280705.1:p.Gly321Val, XP_047280705.1:p.Gly321Glu, XP_047280703.1:p.Gly321Val, XP_047280703.1:p.Gly321Glu, XP_047280679.1:p.Gly321Val, XP_047280679.1:p.Gly321Glu, XP_047280683.1:p.Gly321Val, XP_047280683.1:p.Gly321Glu, XP_047280695.1:p.Gly321Val, XP_047280695.1:p.Gly321Glu, XP_047280688.1:p.Gly321Val, XP_047280688.1:p.Gly321Glu, XP_047280682.1:p.Gly321Val, XP_047280682.1:p.Gly321Glu, XP_047280692.1:p.Gly321Val, XP_047280692.1:p.Gly321Glu, XP_047280685.1:p.Gly321Val, XP_047280685.1:p.Gly321Glu, XP_047280700.1:p.Gly321Val, XP_047280700.1:p.Gly321Glu, XP_047280681.1:p.Gly321Val, XP_047280681.1:p.Gly321Glu, XP_047280689.1:p.Gly321Val, XP_047280689.1:p.Gly321Glu, XP_047280691.1:p.Gly321Val, XP_047280691.1:p.Gly321Glu, XP_047280687.1:p.Gly321Val, XP_047280687.1:p.Gly321Glu, XP_047280686.1:p.Gly321Val, XP_047280686.1:p.Gly321Glu, XP_047280706.1:p.Gly272Val, XP_047280706.1:p.Gly272Glu, NP_001374334.1:p.Gly321Val, NP_001374334.1:p.Gly321Glu, XP_047280680.1:p.Gly321Val, XP_047280680.1:p.Gly321Glu, XP_047280684.1:p.Gly321Val, XP_047280684.1:p.Gly321Glu, XP_047280702.1:p.Gly321Val, XP_047280702.1:p.Gly321Glu, XP_047280690.1:p.Gly321Val, XP_047280690.1:p.Gly321Glu, XP_047280704.1:p.Gly321Val, XP_047280704.1:p.Gly321Glu, XP_047280693.1:p.Gly321Val, XP_047280693.1:p.Gly321Glu, XP_047280694.1:p.Gly321Val, XP_047280694.1:p.Gly321Glu, XP_047280696.1:p.Gly321Val, XP_047280696.1:p.Gly321Glu, NP_001374341.1:p.Gly321Val, NP_001374341.1:p.Gly321Glu, NP_001374340.1:p.Gly321Val, NP_001374340.1:p.Gly321Glu, XP_047280697.1:p.Gly321Val, XP_047280697.1:p.Gly321Glu

              7.

              rs1484492604 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                10:30850145 (GRCh38)
                10:31139074 (GRCh37)
                Canonical SPDI:
                NC_000010.11:30850144:C:A
                Gene:
                ZNF438 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000010.11:g.30850145C>A, NC_000010.10:g.31139074C>A, XM_006717399.4:c.230G>T, XM_006717399.3:c.230G>T, XM_006717399.2:c.230G>T, XM_006717399.1:c.230G>T, XM_011519373.4:c.260G>T, XM_011519373.3:c.260G>T, XM_011519373.2:c.260G>T, XM_011519373.1:c.260G>T, XM_017015870.3:c.260G>T, XM_017015870.2:c.260G>T, XM_017015870.1:c.260G>T, XM_011519376.3:c.230G>T, XM_011519376.2:c.230G>T, XM_011519376.1:c.230G>T, XM_011519374.3:c.260G>T, XM_011519374.2:c.260G>T, XM_011519374.1:c.260G>T, XM_011519377.3:c.230G>T, XM_011519377.2:c.230G>T, XM_011519377.1:c.230G>T, XM_011519372.3:c.260G>T, XM_011519372.2:c.260G>T, XM_011519372.1:c.260G>T, NM_182755.3:c.260G>T, NM_182755.2:c.260G>T, XM_017015869.3:c.260G>T, XM_017015869.2:c.260G>T, XM_017015869.1:c.260G>T, XM_017015863.3:c.293G>T, XM_017015863.2:c.293G>T, XM_017015863.1:c.293G>T, NM_001143769.2:c.113G>T, NM_001143769.1:c.113G>T, XM_024447868.2:c.260G>T, XM_024447868.1:c.260G>T, XM_024447869.2:c.260G>T, XM_024447869.1:c.260G>T, NM_001143770.2:c.230G>T, NM_001143770.1:c.230G>T, NM_001143771.2:c.230G>T, NM_001143771.1:c.230G>T, XM_024447871.2:c.260G>T, XM_024447871.1:c.260G>T, NM_001143766.2:c.260G>T, NM_001143766.1:c.260G>T, XM_024447873.2:c.260G>T, XM_024447873.1:c.260G>T, XM_024447870.2:c.260G>T, XM_024447870.1:c.260G>T, XM_024447872.2:c.260G>T, XM_024447872.1:c.260G>T, NM_001143768.2:c.260G>T, NM_001143768.1:c.260G>T, NM_001143767.2:c.260G>T, NM_001143767.1:c.260G>T, XM_047424745.1:c.260G>T, XM_047424742.1:c.260G>T, XM_047424749.1:c.260G>T, XM_047424747.1:c.260G>T, XM_047424723.1:c.260G>T, XM_047424727.1:c.260G>T, XM_047424739.1:c.260G>T, XM_047424732.1:c.260G>T, XM_047424726.1:c.260G>T, XM_047424736.1:c.260G>T, XM_047424729.1:c.260G>T, XM_047424744.1:c.260G>T, XM_047424725.1:c.260G>T, XM_047424733.1:c.260G>T, XM_047424735.1:c.260G>T, XM_047424731.1:c.260G>T, XM_047424730.1:c.260G>T, XM_047424750.1:c.113G>T, NM_001387405.1:c.260G>T, XM_047424724.1:c.260G>T, XM_047424728.1:c.260G>T, XM_047424746.1:c.260G>T, XM_047424734.1:c.260G>T, XM_047424748.1:c.260G>T, XM_047424737.1:c.260G>T, XM_047424738.1:c.260G>T, XM_047424740.1:c.260G>T, NM_001387412.1:c.260G>T, NM_001387411.1:c.260G>T, XM_047424741.1:c.260G>T, XP_006717462.1:p.Gly77Val, XP_011517675.1:p.Gly87Val, XP_016871359.1:p.Gly87Val, XP_011517678.1:p.Gly77Val, XP_011517676.1:p.Gly87Val, XP_011517679.1:p.Gly77Val, XP_011517674.1:p.Gly87Val, NP_877432.1:p.Gly87Val, XP_016871358.1:p.Gly87Val, XP_016871352.1:p.Gly98Val, NP_001137241.1:p.Gly38Val, XP_024303636.1:p.Gly87Val, XP_024303637.1:p.Gly87Val, NP_001137242.1:p.Gly77Val, NP_001137243.1:p.Gly77Val, XP_024303639.1:p.Gly87Val, NP_001137238.1:p.Gly87Val, XP_024303641.1:p.Gly87Val, XP_024303638.1:p.Gly87Val, XP_024303640.1:p.Gly87Val, NP_001137240.1:p.Gly87Val, NP_001137239.1:p.Gly87Val, XP_047280701.1:p.Gly87Val, XP_047280698.1:p.Gly87Val, XP_047280705.1:p.Gly87Val, XP_047280703.1:p.Gly87Val, XP_047280679.1:p.Gly87Val, XP_047280683.1:p.Gly87Val, XP_047280695.1:p.Gly87Val, XP_047280688.1:p.Gly87Val, XP_047280682.1:p.Gly87Val, XP_047280692.1:p.Gly87Val, XP_047280685.1:p.Gly87Val, XP_047280700.1:p.Gly87Val, XP_047280681.1:p.Gly87Val, XP_047280689.1:p.Gly87Val, XP_047280691.1:p.Gly87Val, XP_047280687.1:p.Gly87Val, XP_047280686.1:p.Gly87Val, XP_047280706.1:p.Gly38Val, NP_001374334.1:p.Gly87Val, XP_047280680.1:p.Gly87Val, XP_047280684.1:p.Gly87Val, XP_047280702.1:p.Gly87Val, XP_047280690.1:p.Gly87Val, XP_047280704.1:p.Gly87Val, XP_047280693.1:p.Gly87Val, XP_047280694.1:p.Gly87Val, XP_047280696.1:p.Gly87Val, NP_001374341.1:p.Gly87Val, NP_001374340.1:p.Gly87Val, XP_047280697.1:p.Gly87Val

                8.

                rs1481196391 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  10:30849071 (GRCh38)
                  10:31138000 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:30849070:G:A
                  Gene:
                  ZNF438 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000010.11:g.30849071G>A, NC_000010.10:g.31138000G>A, XM_006717399.4:c.1304C>T, XM_006717399.3:c.1304C>T, XM_006717399.2:c.1304C>T, XM_006717399.1:c.1304C>T, XM_011519373.4:c.1334C>T, XM_011519373.3:c.1334C>T, XM_011519373.2:c.1334C>T, XM_011519373.1:c.1334C>T, XM_017015870.3:c.1334C>T, XM_017015870.2:c.1334C>T, XM_017015870.1:c.1334C>T, XM_011519376.3:c.1304C>T, XM_011519376.2:c.1304C>T, XM_011519376.1:c.1304C>T, XM_011519374.3:c.1334C>T, XM_011519374.2:c.1334C>T, XM_011519374.1:c.1334C>T, XM_011519377.3:c.1304C>T, XM_011519377.2:c.1304C>T, XM_011519377.1:c.1304C>T, XM_011519372.3:c.1334C>T, XM_011519372.2:c.1334C>T, XM_011519372.1:c.1334C>T, NM_182755.3:c.1334C>T, NM_182755.2:c.1334C>T, XM_017015869.3:c.1334C>T, XM_017015869.2:c.1334C>T, XM_017015869.1:c.1334C>T, XM_017015863.3:c.1367C>T, XM_017015863.2:c.1367C>T, XM_017015863.1:c.1367C>T, NM_001143769.2:c.1187C>T, NM_001143769.1:c.1187C>T, XM_024447868.2:c.1334C>T, XM_024447868.1:c.1334C>T, XM_024447869.2:c.1334C>T, XM_024447869.1:c.1334C>T, NM_001143770.2:c.1304C>T, NM_001143770.1:c.1304C>T, NM_001143771.2:c.1304C>T, NM_001143771.1:c.1304C>T, XM_024447871.2:c.1334C>T, XM_024447871.1:c.1334C>T, NM_001143766.2:c.1334C>T, NM_001143766.1:c.1334C>T, XM_024447873.2:c.1334C>T, XM_024447873.1:c.1334C>T, XM_024447870.2:c.1334C>T, XM_024447870.1:c.1334C>T, XM_024447872.2:c.1334C>T, XM_024447872.1:c.1334C>T, NM_001143768.2:c.1334C>T, NM_001143768.1:c.1334C>T, NM_001143767.2:c.1334C>T, NM_001143767.1:c.1334C>T, XM_017015877.2:c.26C>T, XM_017015877.1:c.26C>T, NR_026560.2:n.780C>T, NR_026560.1:n.852C>T, XM_047424745.1:c.1334C>T, XM_047424742.1:c.1334C>T, XM_047424749.1:c.1334C>T, XM_047424747.1:c.1334C>T, XM_047424723.1:c.1334C>T, XM_047424727.1:c.1334C>T, XM_047424739.1:c.1334C>T, XM_047424732.1:c.1334C>T, XM_047424726.1:c.1334C>T, XM_047424736.1:c.1334C>T, XM_047424729.1:c.1334C>T, XM_047424744.1:c.1334C>T, XM_047424725.1:c.1334C>T, XM_047424733.1:c.1334C>T, XM_047424735.1:c.1334C>T, XM_047424731.1:c.1334C>T, XM_047424730.1:c.1334C>T, XM_047424750.1:c.1187C>T, NM_001387405.1:c.1334C>T, XM_047424724.1:c.1334C>T, XM_047424728.1:c.1334C>T, XM_047424746.1:c.1334C>T, XM_047424734.1:c.1334C>T, XM_047424748.1:c.1334C>T, XM_047424737.1:c.1334C>T, XM_047424738.1:c.1334C>T, XM_047424740.1:c.1334C>T, NM_001387412.1:c.1334C>T, NM_001387411.1:c.1334C>T, XM_047424741.1:c.1334C>T, NR_170660.1:n.802C>T, NR_170659.1:n.703C>T, XP_006717462.1:p.Pro435Leu, XP_011517675.1:p.Pro445Leu, XP_016871359.1:p.Pro445Leu, XP_011517678.1:p.Pro435Leu, XP_011517676.1:p.Pro445Leu, XP_011517679.1:p.Pro435Leu, XP_011517674.1:p.Pro445Leu, NP_877432.1:p.Pro445Leu, XP_016871358.1:p.Pro445Leu, XP_016871352.1:p.Pro456Leu, NP_001137241.1:p.Pro396Leu, XP_024303636.1:p.Pro445Leu, XP_024303637.1:p.Pro445Leu, NP_001137242.1:p.Pro435Leu, NP_001137243.1:p.Pro435Leu, XP_024303639.1:p.Pro445Leu, NP_001137238.1:p.Pro445Leu, XP_024303641.1:p.Pro445Leu, XP_024303638.1:p.Pro445Leu, XP_024303640.1:p.Pro445Leu, NP_001137240.1:p.Pro445Leu, NP_001137239.1:p.Pro445Leu, XP_016871366.1:p.Pro9Leu, XP_047280701.1:p.Pro445Leu, XP_047280698.1:p.Pro445Leu, XP_047280705.1:p.Pro445Leu, XP_047280703.1:p.Pro445Leu, XP_047280679.1:p.Pro445Leu, XP_047280683.1:p.Pro445Leu, XP_047280695.1:p.Pro445Leu, XP_047280688.1:p.Pro445Leu, XP_047280682.1:p.Pro445Leu, XP_047280692.1:p.Pro445Leu, XP_047280685.1:p.Pro445Leu, XP_047280700.1:p.Pro445Leu, XP_047280681.1:p.Pro445Leu, XP_047280689.1:p.Pro445Leu, XP_047280691.1:p.Pro445Leu, XP_047280687.1:p.Pro445Leu, XP_047280686.1:p.Pro445Leu, XP_047280706.1:p.Pro396Leu, NP_001374334.1:p.Pro445Leu, XP_047280680.1:p.Pro445Leu, XP_047280684.1:p.Pro445Leu, XP_047280702.1:p.Pro445Leu, XP_047280690.1:p.Pro445Leu, XP_047280704.1:p.Pro445Leu, XP_047280693.1:p.Pro445Leu, XP_047280694.1:p.Pro445Leu, XP_047280696.1:p.Pro445Leu, NP_001374341.1:p.Pro445Leu, NP_001374340.1:p.Pro445Leu, XP_047280697.1:p.Pro445Leu

                  9.

                  rs1480793994 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    10:30845279 (GRCh38)
                    10:31134208 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:30845278:A:G
                    Gene:
                    ZNF438 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.30845279A>G, NC_000010.10:g.31134208A>G, XM_006717399.4:c.2139T>C, XM_006717399.3:c.2139T>C, XM_006717399.2:c.2139T>C, XM_006717399.1:c.2139T>C, XM_011519373.4:c.2169T>C, XM_011519373.3:c.2169T>C, XM_011519373.2:c.2169T>C, XM_011519373.1:c.2169T>C, XM_017015870.3:c.2169T>C, XM_017015870.2:c.2169T>C, XM_017015870.1:c.2169T>C, XM_011519376.3:c.2139T>C, XM_011519376.2:c.2139T>C, XM_011519376.1:c.2139T>C, XM_011519374.3:c.2169T>C, XM_011519374.2:c.2169T>C, XM_011519374.1:c.2169T>C, XM_011519377.3:c.2139T>C, XM_011519377.2:c.2139T>C, XM_011519377.1:c.2139T>C, XM_011519372.3:c.2169T>C, XM_011519372.2:c.2169T>C, XM_011519372.1:c.2169T>C, NM_182755.3:c.2169T>C, NM_182755.2:c.2169T>C, XM_017015869.3:c.2169T>C, XM_017015869.2:c.2169T>C, XM_017015869.1:c.2169T>C, XM_017015863.3:c.2202T>C, XM_017015863.2:c.2202T>C, XM_017015863.1:c.2202T>C, NM_001143769.2:c.2022T>C, NM_001143769.1:c.2022T>C, XM_024447868.2:c.2169T>C, XM_024447868.1:c.2169T>C, XM_024447869.2:c.2169T>C, XM_024447869.1:c.2169T>C, NM_001143770.2:c.2139T>C, NM_001143770.1:c.2139T>C, NM_001143771.2:c.2139T>C, NM_001143771.1:c.2139T>C, XM_024447871.2:c.2169T>C, XM_024447871.1:c.2169T>C, NM_001143766.2:c.2169T>C, NM_001143766.1:c.2169T>C, XM_024447873.2:c.2169T>C, XM_024447873.1:c.2169T>C, XM_024447870.2:c.2169T>C, XM_024447870.1:c.2169T>C, XM_024447872.2:c.2169T>C, XM_024447872.1:c.2169T>C, NM_001143768.2:c.2169T>C, NM_001143768.1:c.2169T>C, NM_001143767.2:c.2169T>C, NM_001143767.1:c.2169T>C, XM_017015877.2:c.861T>C, XM_017015877.1:c.861T>C, NR_026560.2:n.1615T>C, NR_026560.1:n.1687T>C, XM_047424745.1:c.2169T>C, XM_047424742.1:c.2169T>C, XM_047424749.1:c.2169T>C, XM_047424747.1:c.2169T>C, XM_047424723.1:c.2169T>C, XM_047424727.1:c.2169T>C, XM_047424739.1:c.2169T>C, XM_047424732.1:c.2169T>C, XM_047424726.1:c.2169T>C, XM_047424736.1:c.2169T>C, XM_047424729.1:c.2169T>C, XM_047424744.1:c.2169T>C, XM_047424725.1:c.2169T>C, XM_047424733.1:c.2169T>C, XM_047424735.1:c.2169T>C, XM_047424731.1:c.2169T>C, XM_047424730.1:c.2169T>C, XM_047424750.1:c.2022T>C, NM_001387405.1:c.2169T>C, XM_047424724.1:c.2169T>C, XM_047424728.1:c.2169T>C, XM_047424746.1:c.2169T>C, XM_047424734.1:c.2169T>C, XM_047424748.1:c.2169T>C, XM_047424737.1:c.2169T>C, XM_047424738.1:c.2169T>C, XM_047424740.1:c.2169T>C, NM_001387412.1:c.2169T>C, NM_001387411.1:c.2169T>C, XM_047424741.1:c.2169T>C, NR_170660.1:n.1637T>C, NR_170659.1:n.1538T>C

                    10.

                    rs1480442759 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      10:30848586 (GRCh38)
                      10:31137515 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:30848585:C:T
                      Gene:
                      ZNF438 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000010.11:g.30848586C>T, NC_000010.10:g.31137515C>T, XM_006717399.4:c.1789G>A, XM_006717399.3:c.1789G>A, XM_006717399.2:c.1789G>A, XM_006717399.1:c.1789G>A, XM_011519373.4:c.1819G>A, XM_011519373.3:c.1819G>A, XM_011519373.2:c.1819G>A, XM_011519373.1:c.1819G>A, XM_017015870.3:c.1819G>A, XM_017015870.2:c.1819G>A, XM_017015870.1:c.1819G>A, XM_011519376.3:c.1789G>A, XM_011519376.2:c.1789G>A, XM_011519376.1:c.1789G>A, XM_011519374.3:c.1819G>A, XM_011519374.2:c.1819G>A, XM_011519374.1:c.1819G>A, XM_011519377.3:c.1789G>A, XM_011519377.2:c.1789G>A, XM_011519377.1:c.1789G>A, XM_011519372.3:c.1819G>A, XM_011519372.2:c.1819G>A, XM_011519372.1:c.1819G>A, NM_182755.3:c.1819G>A, NM_182755.2:c.1819G>A, XM_017015869.3:c.1819G>A, XM_017015869.2:c.1819G>A, XM_017015869.1:c.1819G>A, XM_017015863.3:c.1852G>A, XM_017015863.2:c.1852G>A, XM_017015863.1:c.1852G>A, NM_001143769.2:c.1672G>A, NM_001143769.1:c.1672G>A, XM_024447868.2:c.1819G>A, XM_024447868.1:c.1819G>A, XM_024447869.2:c.1819G>A, XM_024447869.1:c.1819G>A, NM_001143770.2:c.1789G>A, NM_001143770.1:c.1789G>A, NM_001143771.2:c.1789G>A, NM_001143771.1:c.1789G>A, XM_024447871.2:c.1819G>A, XM_024447871.1:c.1819G>A, NM_001143766.2:c.1819G>A, NM_001143766.1:c.1819G>A, XM_024447873.2:c.1819G>A, XM_024447873.1:c.1819G>A, XM_024447870.2:c.1819G>A, XM_024447870.1:c.1819G>A, XM_024447872.2:c.1819G>A, XM_024447872.1:c.1819G>A, NM_001143768.2:c.1819G>A, NM_001143768.1:c.1819G>A, NM_001143767.2:c.1819G>A, NM_001143767.1:c.1819G>A, XM_017015877.2:c.511G>A, XM_017015877.1:c.511G>A, NR_026560.2:n.1265G>A, NR_026560.1:n.1337G>A, XM_047424745.1:c.1819G>A, XM_047424742.1:c.1819G>A, XM_047424749.1:c.1819G>A, XM_047424747.1:c.1819G>A, XM_047424723.1:c.1819G>A, XM_047424727.1:c.1819G>A, XM_047424739.1:c.1819G>A, XM_047424732.1:c.1819G>A, XM_047424726.1:c.1819G>A, XM_047424736.1:c.1819G>A, XM_047424729.1:c.1819G>A, XM_047424744.1:c.1819G>A, XM_047424725.1:c.1819G>A, XM_047424733.1:c.1819G>A, XM_047424735.1:c.1819G>A, XM_047424731.1:c.1819G>A, XM_047424730.1:c.1819G>A, XM_047424750.1:c.1672G>A, NM_001387405.1:c.1819G>A, XM_047424724.1:c.1819G>A, XM_047424728.1:c.1819G>A, XM_047424746.1:c.1819G>A, XM_047424734.1:c.1819G>A, XM_047424748.1:c.1819G>A, XM_047424737.1:c.1819G>A, XM_047424738.1:c.1819G>A, XM_047424740.1:c.1819G>A, NM_001387412.1:c.1819G>A, NM_001387411.1:c.1819G>A, XM_047424741.1:c.1819G>A, NR_170660.1:n.1287G>A, NR_170659.1:n.1188G>A, XP_006717462.1:p.Asp597Asn, XP_011517675.1:p.Asp607Asn, XP_016871359.1:p.Asp607Asn, XP_011517678.1:p.Asp597Asn, XP_011517676.1:p.Asp607Asn, XP_011517679.1:p.Asp597Asn, XP_011517674.1:p.Asp607Asn, NP_877432.1:p.Asp607Asn, XP_016871358.1:p.Asp607Asn, XP_016871352.1:p.Asp618Asn, NP_001137241.1:p.Asp558Asn, XP_024303636.1:p.Asp607Asn, XP_024303637.1:p.Asp607Asn, NP_001137242.1:p.Asp597Asn, NP_001137243.1:p.Asp597Asn, XP_024303639.1:p.Asp607Asn, NP_001137238.1:p.Asp607Asn, XP_024303641.1:p.Asp607Asn, XP_024303638.1:p.Asp607Asn, XP_024303640.1:p.Asp607Asn, NP_001137240.1:p.Asp607Asn, NP_001137239.1:p.Asp607Asn, XP_016871366.1:p.Asp171Asn, XP_047280701.1:p.Asp607Asn, XP_047280698.1:p.Asp607Asn, XP_047280705.1:p.Asp607Asn, XP_047280703.1:p.Asp607Asn, XP_047280679.1:p.Asp607Asn, XP_047280683.1:p.Asp607Asn, XP_047280695.1:p.Asp607Asn, XP_047280688.1:p.Asp607Asn, XP_047280682.1:p.Asp607Asn, XP_047280692.1:p.Asp607Asn, XP_047280685.1:p.Asp607Asn, XP_047280700.1:p.Asp607Asn, XP_047280681.1:p.Asp607Asn, XP_047280689.1:p.Asp607Asn, XP_047280691.1:p.Asp607Asn, XP_047280687.1:p.Asp607Asn, XP_047280686.1:p.Asp607Asn, XP_047280706.1:p.Asp558Asn, NP_001374334.1:p.Asp607Asn, XP_047280680.1:p.Asp607Asn, XP_047280684.1:p.Asp607Asn, XP_047280702.1:p.Asp607Asn, XP_047280690.1:p.Asp607Asn, XP_047280704.1:p.Asp607Asn, XP_047280693.1:p.Asp607Asn, XP_047280694.1:p.Asp607Asn, XP_047280696.1:p.Asp607Asn, NP_001374341.1:p.Asp607Asn, NP_001374340.1:p.Asp607Asn, XP_047280697.1:p.Asp607Asn

                      11.

                      rs1478569891 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        GAA>- [Show Flanks]
                        Chromosome:
                        10:30849695 (GRCh38)
                        10:31138624 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:30849694:GAA:
                        Gene:
                        ZNF438 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,inframe_deletion
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000004/1 (GnomAD_exomes)
                        -=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000010.11:g.30849695_30849697del, NC_000010.10:g.31138624_31138626del, XM_006717399.4:c.678_680del, XM_006717399.3:c.678_680del, XM_006717399.2:c.678_680del, XM_006717399.1:c.678_680del, XM_011519373.4:c.708_710del, XM_011519373.3:c.708_710del, XM_011519373.2:c.708_710del, XM_011519373.1:c.708_710del, XM_017015870.3:c.708_710del, XM_017015870.2:c.708_710del, XM_017015870.1:c.708_710del, XM_011519376.3:c.678_680del, XM_011519376.2:c.678_680del, XM_011519376.1:c.678_680del, XM_011519374.3:c.708_710del, XM_011519374.2:c.708_710del, XM_011519374.1:c.708_710del, XM_011519377.3:c.678_680del, XM_011519377.2:c.678_680del, XM_011519377.1:c.678_680del, XM_011519372.3:c.708_710del, XM_011519372.2:c.708_710del, XM_011519372.1:c.708_710del, NM_182755.3:c.708_710del, NM_182755.2:c.708_710del, XM_017015869.3:c.708_710del, XM_017015869.2:c.708_710del, XM_017015869.1:c.708_710del, XM_017015863.3:c.741_743del, XM_017015863.2:c.741_743del, XM_017015863.1:c.741_743del, NM_001143769.2:c.561_563del, NM_001143769.1:c.561_563del, XM_024447868.2:c.708_710del, XM_024447868.1:c.708_710del, XM_024447869.2:c.708_710del, XM_024447869.1:c.708_710del, NM_001143770.2:c.678_680del, NM_001143770.1:c.678_680del, NM_001143771.2:c.678_680del, NM_001143771.1:c.678_680del, XM_024447871.2:c.708_710del, XM_024447871.1:c.708_710del, NM_001143766.2:c.708_710del, NM_001143766.1:c.708_710del, XM_024447873.2:c.708_710del, XM_024447873.1:c.708_710del, XM_024447870.2:c.708_710del, XM_024447870.1:c.708_710del, XM_024447872.2:c.708_710del, XM_024447872.1:c.708_710del, NM_001143768.2:c.708_710del, NM_001143768.1:c.708_710del, NM_001143767.2:c.708_710del, NM_001143767.1:c.708_710del, XM_047424745.1:c.708_710del, XM_047424742.1:c.708_710del, XM_047424749.1:c.708_710del, XM_047424747.1:c.708_710del, XM_047424723.1:c.708_710del, XM_047424727.1:c.708_710del, XM_047424739.1:c.708_710del, XM_047424732.1:c.708_710del, XM_047424726.1:c.708_710del, XM_047424736.1:c.708_710del, XM_047424729.1:c.708_710del, XM_047424744.1:c.708_710del, XM_047424725.1:c.708_710del, XM_047424733.1:c.708_710del, XM_047424735.1:c.708_710del, XM_047424731.1:c.708_710del, XM_047424730.1:c.708_710del, XM_047424750.1:c.561_563del, NM_001387405.1:c.708_710del, XM_047424724.1:c.708_710del, XM_047424728.1:c.708_710del, XM_047424746.1:c.708_710del, XM_047424734.1:c.708_710del, XM_047424748.1:c.708_710del, XM_047424737.1:c.708_710del, XM_047424738.1:c.708_710del, XM_047424740.1:c.708_710del, NM_001387412.1:c.708_710del, NM_001387411.1:c.708_710del, XM_047424741.1:c.708_710del, XP_006717462.1:p.Ser227del, XP_011517675.1:p.Ser237del, XP_016871359.1:p.Ser237del, XP_011517678.1:p.Ser227del, XP_011517676.1:p.Ser237del, XP_011517679.1:p.Ser227del, XP_011517674.1:p.Ser237del, NP_877432.1:p.Ser237del, XP_016871358.1:p.Ser237del, XP_016871352.1:p.Ser248del, NP_001137241.1:p.Ser188del, XP_024303636.1:p.Ser237del, XP_024303637.1:p.Ser237del, NP_001137242.1:p.Ser227del, NP_001137243.1:p.Ser227del, XP_024303639.1:p.Ser237del, NP_001137238.1:p.Ser237del, XP_024303641.1:p.Ser237del, XP_024303638.1:p.Ser237del, XP_024303640.1:p.Ser237del, NP_001137240.1:p.Ser237del, NP_001137239.1:p.Ser237del, XP_047280701.1:p.Ser237del, XP_047280698.1:p.Ser237del, XP_047280705.1:p.Ser237del, XP_047280703.1:p.Ser237del, XP_047280679.1:p.Ser237del, XP_047280683.1:p.Ser237del, XP_047280695.1:p.Ser237del, XP_047280688.1:p.Ser237del, XP_047280682.1:p.Ser237del, XP_047280692.1:p.Ser237del, XP_047280685.1:p.Ser237del, XP_047280700.1:p.Ser237del, XP_047280681.1:p.Ser237del, XP_047280689.1:p.Ser237del, XP_047280691.1:p.Ser237del, XP_047280687.1:p.Ser237del, XP_047280686.1:p.Ser237del, XP_047280706.1:p.Ser188del, NP_001374334.1:p.Ser237del, XP_047280680.1:p.Ser237del, XP_047280684.1:p.Ser237del, XP_047280702.1:p.Ser237del, XP_047280690.1:p.Ser237del, XP_047280704.1:p.Ser237del, XP_047280693.1:p.Ser237del, XP_047280694.1:p.Ser237del, XP_047280696.1:p.Ser237del, NP_001374341.1:p.Ser237del, NP_001374340.1:p.Ser237del, XP_047280697.1:p.Ser237del

                        12.

                        rs1477586538 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          10:30849367 (GRCh38)
                          10:31138296 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:30849366:T:C
                          Gene:
                          ZNF438 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000012/3 (GnomAD_exomes)
                          C=0.000029/4 (GnomAD)
                          HGVS:
                          NC_000010.11:g.30849367T>C, NC_000010.10:g.31138296T>C, XM_006717399.4:c.1008A>G, XM_006717399.3:c.1008A>G, XM_006717399.2:c.1008A>G, XM_006717399.1:c.1008A>G, XM_011519373.4:c.1038A>G, XM_011519373.3:c.1038A>G, XM_011519373.2:c.1038A>G, XM_011519373.1:c.1038A>G, XM_017015870.3:c.1038A>G, XM_017015870.2:c.1038A>G, XM_017015870.1:c.1038A>G, XM_011519376.3:c.1008A>G, XM_011519376.2:c.1008A>G, XM_011519376.1:c.1008A>G, XM_011519374.3:c.1038A>G, XM_011519374.2:c.1038A>G, XM_011519374.1:c.1038A>G, XM_011519377.3:c.1008A>G, XM_011519377.2:c.1008A>G, XM_011519377.1:c.1008A>G, XM_011519372.3:c.1038A>G, XM_011519372.2:c.1038A>G, XM_011519372.1:c.1038A>G, NM_182755.3:c.1038A>G, NM_182755.2:c.1038A>G, XM_017015869.3:c.1038A>G, XM_017015869.2:c.1038A>G, XM_017015869.1:c.1038A>G, XM_017015863.3:c.1071A>G, XM_017015863.2:c.1071A>G, XM_017015863.1:c.1071A>G, NM_001143769.2:c.891A>G, NM_001143769.1:c.891A>G, XM_024447868.2:c.1038A>G, XM_024447868.1:c.1038A>G, XM_024447869.2:c.1038A>G, XM_024447869.1:c.1038A>G, NM_001143770.2:c.1008A>G, NM_001143770.1:c.1008A>G, NM_001143771.2:c.1008A>G, NM_001143771.1:c.1008A>G, XM_024447871.2:c.1038A>G, XM_024447871.1:c.1038A>G, NM_001143766.2:c.1038A>G, NM_001143766.1:c.1038A>G, XM_024447873.2:c.1038A>G, XM_024447873.1:c.1038A>G, XM_024447870.2:c.1038A>G, XM_024447870.1:c.1038A>G, XM_024447872.2:c.1038A>G, XM_024447872.1:c.1038A>G, NM_001143768.2:c.1038A>G, NM_001143768.1:c.1038A>G, NM_001143767.2:c.1038A>G, NM_001143767.1:c.1038A>G, XM_017015877.2:c.-271A>G, XM_017015877.1:c.-271A>G, NR_026560.2:n.484A>G, NR_026560.1:n.556A>G, XM_047424745.1:c.1038A>G, XM_047424742.1:c.1038A>G, XM_047424749.1:c.1038A>G, XM_047424747.1:c.1038A>G, XM_047424723.1:c.1038A>G, XM_047424727.1:c.1038A>G, XM_047424739.1:c.1038A>G, XM_047424732.1:c.1038A>G, XM_047424726.1:c.1038A>G, XM_047424736.1:c.1038A>G, XM_047424729.1:c.1038A>G, XM_047424744.1:c.1038A>G, XM_047424725.1:c.1038A>G, XM_047424733.1:c.1038A>G, XM_047424735.1:c.1038A>G, XM_047424731.1:c.1038A>G, XM_047424730.1:c.1038A>G, XM_047424750.1:c.891A>G, NM_001387405.1:c.1038A>G, XM_047424724.1:c.1038A>G, XM_047424728.1:c.1038A>G, XM_047424746.1:c.1038A>G, XM_047424734.1:c.1038A>G, XM_047424748.1:c.1038A>G, XM_047424737.1:c.1038A>G, XM_047424738.1:c.1038A>G, XM_047424740.1:c.1038A>G, NM_001387412.1:c.1038A>G, NM_001387411.1:c.1038A>G, XM_047424741.1:c.1038A>G, NR_170660.1:n.506A>G, NR_170659.1:n.407A>G

                          13.

                          rs1477528651 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:30848721 (GRCh38)
                            10:31137650 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:30848720:G:A
                            Gene:
                            ZNF438 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000011/3 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            A=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000010.11:g.30848721G>A, NC_000010.10:g.31137650G>A, XM_006717399.4:c.1654C>T, XM_006717399.3:c.1654C>T, XM_006717399.2:c.1654C>T, XM_006717399.1:c.1654C>T, XM_011519373.4:c.1684C>T, XM_011519373.3:c.1684C>T, XM_011519373.2:c.1684C>T, XM_011519373.1:c.1684C>T, XM_017015870.3:c.1684C>T, XM_017015870.2:c.1684C>T, XM_017015870.1:c.1684C>T, XM_011519376.3:c.1654C>T, XM_011519376.2:c.1654C>T, XM_011519376.1:c.1654C>T, XM_011519374.3:c.1684C>T, XM_011519374.2:c.1684C>T, XM_011519374.1:c.1684C>T, XM_011519377.3:c.1654C>T, XM_011519377.2:c.1654C>T, XM_011519377.1:c.1654C>T, XM_011519372.3:c.1684C>T, XM_011519372.2:c.1684C>T, XM_011519372.1:c.1684C>T, NM_182755.3:c.1684C>T, NM_182755.2:c.1684C>T, XM_017015869.3:c.1684C>T, XM_017015869.2:c.1684C>T, XM_017015869.1:c.1684C>T, XM_017015863.3:c.1717C>T, XM_017015863.2:c.1717C>T, XM_017015863.1:c.1717C>T, NM_001143769.2:c.1537C>T, NM_001143769.1:c.1537C>T, XM_024447868.2:c.1684C>T, XM_024447868.1:c.1684C>T, XM_024447869.2:c.1684C>T, XM_024447869.1:c.1684C>T, NM_001143770.2:c.1654C>T, NM_001143770.1:c.1654C>T, NM_001143771.2:c.1654C>T, NM_001143771.1:c.1654C>T, XM_024447871.2:c.1684C>T, XM_024447871.1:c.1684C>T, NM_001143766.2:c.1684C>T, NM_001143766.1:c.1684C>T, XM_024447873.2:c.1684C>T, XM_024447873.1:c.1684C>T, XM_024447870.2:c.1684C>T, XM_024447870.1:c.1684C>T, XM_024447872.2:c.1684C>T, XM_024447872.1:c.1684C>T, NM_001143768.2:c.1684C>T, NM_001143768.1:c.1684C>T, NM_001143767.2:c.1684C>T, NM_001143767.1:c.1684C>T, XM_017015877.2:c.376C>T, XM_017015877.1:c.376C>T, NR_026560.2:n.1130C>T, NR_026560.1:n.1202C>T, XM_047424745.1:c.1684C>T, XM_047424742.1:c.1684C>T, XM_047424749.1:c.1684C>T, XM_047424747.1:c.1684C>T, XM_047424723.1:c.1684C>T, XM_047424727.1:c.1684C>T, XM_047424739.1:c.1684C>T, XM_047424732.1:c.1684C>T, XM_047424726.1:c.1684C>T, XM_047424736.1:c.1684C>T, XM_047424729.1:c.1684C>T, XM_047424744.1:c.1684C>T, XM_047424725.1:c.1684C>T, XM_047424733.1:c.1684C>T, XM_047424735.1:c.1684C>T, XM_047424731.1:c.1684C>T, XM_047424730.1:c.1684C>T, XM_047424750.1:c.1537C>T, NM_001387405.1:c.1684C>T, XM_047424724.1:c.1684C>T, XM_047424728.1:c.1684C>T, XM_047424746.1:c.1684C>T, XM_047424734.1:c.1684C>T, XM_047424748.1:c.1684C>T, XM_047424737.1:c.1684C>T, XM_047424738.1:c.1684C>T, XM_047424740.1:c.1684C>T, NM_001387412.1:c.1684C>T, NM_001387411.1:c.1684C>T, XM_047424741.1:c.1684C>T, NR_170660.1:n.1152C>T, NR_170659.1:n.1053C>T, XP_006717462.1:p.Arg552Cys, XP_011517675.1:p.Arg562Cys, XP_016871359.1:p.Arg562Cys, XP_011517678.1:p.Arg552Cys, XP_011517676.1:p.Arg562Cys, XP_011517679.1:p.Arg552Cys, XP_011517674.1:p.Arg562Cys, NP_877432.1:p.Arg562Cys, XP_016871358.1:p.Arg562Cys, XP_016871352.1:p.Arg573Cys, NP_001137241.1:p.Arg513Cys, XP_024303636.1:p.Arg562Cys, XP_024303637.1:p.Arg562Cys, NP_001137242.1:p.Arg552Cys, NP_001137243.1:p.Arg552Cys, XP_024303639.1:p.Arg562Cys, NP_001137238.1:p.Arg562Cys, XP_024303641.1:p.Arg562Cys, XP_024303638.1:p.Arg562Cys, XP_024303640.1:p.Arg562Cys, NP_001137240.1:p.Arg562Cys, NP_001137239.1:p.Arg562Cys, XP_016871366.1:p.Arg126Cys, XP_047280701.1:p.Arg562Cys, XP_047280698.1:p.Arg562Cys, XP_047280705.1:p.Arg562Cys, XP_047280703.1:p.Arg562Cys, XP_047280679.1:p.Arg562Cys, XP_047280683.1:p.Arg562Cys, XP_047280695.1:p.Arg562Cys, XP_047280688.1:p.Arg562Cys, XP_047280682.1:p.Arg562Cys, XP_047280692.1:p.Arg562Cys, XP_047280685.1:p.Arg562Cys, XP_047280700.1:p.Arg562Cys, XP_047280681.1:p.Arg562Cys, XP_047280689.1:p.Arg562Cys, XP_047280691.1:p.Arg562Cys, XP_047280687.1:p.Arg562Cys, XP_047280686.1:p.Arg562Cys, XP_047280706.1:p.Arg513Cys, NP_001374334.1:p.Arg562Cys, XP_047280680.1:p.Arg562Cys, XP_047280684.1:p.Arg562Cys, XP_047280702.1:p.Arg562Cys, XP_047280690.1:p.Arg562Cys, XP_047280704.1:p.Arg562Cys, XP_047280693.1:p.Arg562Cys, XP_047280694.1:p.Arg562Cys, XP_047280696.1:p.Arg562Cys, NP_001374341.1:p.Arg562Cys, NP_001374340.1:p.Arg562Cys, XP_047280697.1:p.Arg562Cys

                            14.

                            rs1476543663 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              10:30845557 (GRCh38)
                              10:31134486 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:30845556:G:T
                              Gene:
                              ZNF438 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.30845557G>T, NC_000010.10:g.31134486G>T, XM_006717399.4:c.1861C>A, XM_006717399.3:c.1861C>A, XM_006717399.2:c.1861C>A, XM_006717399.1:c.1861C>A, XM_011519373.4:c.1891C>A, XM_011519373.3:c.1891C>A, XM_011519373.2:c.1891C>A, XM_011519373.1:c.1891C>A, XM_017015870.3:c.1891C>A, XM_017015870.2:c.1891C>A, XM_017015870.1:c.1891C>A, XM_011519376.3:c.1861C>A, XM_011519376.2:c.1861C>A, XM_011519376.1:c.1861C>A, XM_011519374.3:c.1891C>A, XM_011519374.2:c.1891C>A, XM_011519374.1:c.1891C>A, XM_011519377.3:c.1861C>A, XM_011519377.2:c.1861C>A, XM_011519377.1:c.1861C>A, XM_011519372.3:c.1891C>A, XM_011519372.2:c.1891C>A, XM_011519372.1:c.1891C>A, NM_182755.3:c.1891C>A, NM_182755.2:c.1891C>A, XM_017015869.3:c.1891C>A, XM_017015869.2:c.1891C>A, XM_017015869.1:c.1891C>A, XM_017015863.3:c.1924C>A, XM_017015863.2:c.1924C>A, XM_017015863.1:c.1924C>A, NM_001143769.2:c.1744C>A, NM_001143769.1:c.1744C>A, XM_024447868.2:c.1891C>A, XM_024447868.1:c.1891C>A, XM_024447869.2:c.1891C>A, XM_024447869.1:c.1891C>A, NM_001143770.2:c.1861C>A, NM_001143770.1:c.1861C>A, NM_001143771.2:c.1861C>A, NM_001143771.1:c.1861C>A, XM_024447871.2:c.1891C>A, XM_024447871.1:c.1891C>A, NM_001143766.2:c.1891C>A, NM_001143766.1:c.1891C>A, XM_024447873.2:c.1891C>A, XM_024447873.1:c.1891C>A, XM_024447870.2:c.1891C>A, XM_024447870.1:c.1891C>A, XM_024447872.2:c.1891C>A, XM_024447872.1:c.1891C>A, NM_001143768.2:c.1891C>A, NM_001143768.1:c.1891C>A, NM_001143767.2:c.1891C>A, NM_001143767.1:c.1891C>A, XM_017015877.2:c.583C>A, XM_017015877.1:c.583C>A, NR_026560.2:n.1337C>A, NR_026560.1:n.1409C>A, XM_047424745.1:c.1891C>A, XM_047424742.1:c.1891C>A, XM_047424749.1:c.1891C>A, XM_047424747.1:c.1891C>A, XM_047424723.1:c.1891C>A, XM_047424727.1:c.1891C>A, XM_047424739.1:c.1891C>A, XM_047424732.1:c.1891C>A, XM_047424726.1:c.1891C>A, XM_047424736.1:c.1891C>A, XM_047424729.1:c.1891C>A, XM_047424744.1:c.1891C>A, XM_047424725.1:c.1891C>A, XM_047424733.1:c.1891C>A, XM_047424735.1:c.1891C>A, XM_047424731.1:c.1891C>A, XM_047424730.1:c.1891C>A, XM_047424750.1:c.1744C>A, NM_001387405.1:c.1891C>A, XM_047424724.1:c.1891C>A, XM_047424728.1:c.1891C>A, XM_047424746.1:c.1891C>A, XM_047424734.1:c.1891C>A, XM_047424748.1:c.1891C>A, XM_047424737.1:c.1891C>A, XM_047424738.1:c.1891C>A, XM_047424740.1:c.1891C>A, NM_001387412.1:c.1891C>A, NM_001387411.1:c.1891C>A, XM_047424741.1:c.1891C>A, NR_170660.1:n.1359C>A, NR_170659.1:n.1260C>A, XP_006717462.1:p.Leu621Met, XP_011517675.1:p.Leu631Met, XP_016871359.1:p.Leu631Met, XP_011517678.1:p.Leu621Met, XP_011517676.1:p.Leu631Met, XP_011517679.1:p.Leu621Met, XP_011517674.1:p.Leu631Met, NP_877432.1:p.Leu631Met, XP_016871358.1:p.Leu631Met, XP_016871352.1:p.Leu642Met, NP_001137241.1:p.Leu582Met, XP_024303636.1:p.Leu631Met, XP_024303637.1:p.Leu631Met, NP_001137242.1:p.Leu621Met, NP_001137243.1:p.Leu621Met, XP_024303639.1:p.Leu631Met, NP_001137238.1:p.Leu631Met, XP_024303641.1:p.Leu631Met, XP_024303638.1:p.Leu631Met, XP_024303640.1:p.Leu631Met, NP_001137240.1:p.Leu631Met, NP_001137239.1:p.Leu631Met, XP_016871366.1:p.Leu195Met, XP_047280701.1:p.Leu631Met, XP_047280698.1:p.Leu631Met, XP_047280705.1:p.Leu631Met, XP_047280703.1:p.Leu631Met, XP_047280679.1:p.Leu631Met, XP_047280683.1:p.Leu631Met, XP_047280695.1:p.Leu631Met, XP_047280688.1:p.Leu631Met, XP_047280682.1:p.Leu631Met, XP_047280692.1:p.Leu631Met, XP_047280685.1:p.Leu631Met, XP_047280700.1:p.Leu631Met, XP_047280681.1:p.Leu631Met, XP_047280689.1:p.Leu631Met, XP_047280691.1:p.Leu631Met, XP_047280687.1:p.Leu631Met, XP_047280686.1:p.Leu631Met, XP_047280706.1:p.Leu582Met, NP_001374334.1:p.Leu631Met, XP_047280680.1:p.Leu631Met, XP_047280684.1:p.Leu631Met, XP_047280702.1:p.Leu631Met, XP_047280690.1:p.Leu631Met, XP_047280704.1:p.Leu631Met, XP_047280693.1:p.Leu631Met, XP_047280694.1:p.Leu631Met, XP_047280696.1:p.Leu631Met, NP_001374341.1:p.Leu631Met, NP_001374340.1:p.Leu631Met, XP_047280697.1:p.Leu631Met

                              15.

                              rs1475528556 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                10:30848791 (GRCh38)
                                10:31137720 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:30848790:C:T
                                Gene:
                                ZNF438 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000010.11:g.30848791C>T, NC_000010.10:g.31137720C>T, XM_006717399.4:c.1584G>A, XM_006717399.3:c.1584G>A, XM_006717399.2:c.1584G>A, XM_006717399.1:c.1584G>A, XM_011519373.4:c.1614G>A, XM_011519373.3:c.1614G>A, XM_011519373.2:c.1614G>A, XM_011519373.1:c.1614G>A, XM_017015870.3:c.1614G>A, XM_017015870.2:c.1614G>A, XM_017015870.1:c.1614G>A, XM_011519376.3:c.1584G>A, XM_011519376.2:c.1584G>A, XM_011519376.1:c.1584G>A, XM_011519374.3:c.1614G>A, XM_011519374.2:c.1614G>A, XM_011519374.1:c.1614G>A, XM_011519377.3:c.1584G>A, XM_011519377.2:c.1584G>A, XM_011519377.1:c.1584G>A, XM_011519372.3:c.1614G>A, XM_011519372.2:c.1614G>A, XM_011519372.1:c.1614G>A, NM_182755.3:c.1614G>A, NM_182755.2:c.1614G>A, XM_017015869.3:c.1614G>A, XM_017015869.2:c.1614G>A, XM_017015869.1:c.1614G>A, XM_017015863.3:c.1647G>A, XM_017015863.2:c.1647G>A, XM_017015863.1:c.1647G>A, NM_001143769.2:c.1467G>A, NM_001143769.1:c.1467G>A, XM_024447868.2:c.1614G>A, XM_024447868.1:c.1614G>A, XM_024447869.2:c.1614G>A, XM_024447869.1:c.1614G>A, NM_001143770.2:c.1584G>A, NM_001143770.1:c.1584G>A, NM_001143771.2:c.1584G>A, NM_001143771.1:c.1584G>A, XM_024447871.2:c.1614G>A, XM_024447871.1:c.1614G>A, NM_001143766.2:c.1614G>A, NM_001143766.1:c.1614G>A, XM_024447873.2:c.1614G>A, XM_024447873.1:c.1614G>A, XM_024447870.2:c.1614G>A, XM_024447870.1:c.1614G>A, XM_024447872.2:c.1614G>A, XM_024447872.1:c.1614G>A, NM_001143768.2:c.1614G>A, NM_001143768.1:c.1614G>A, NM_001143767.2:c.1614G>A, NM_001143767.1:c.1614G>A, XM_017015877.2:c.306G>A, XM_017015877.1:c.306G>A, NR_026560.2:n.1060G>A, NR_026560.1:n.1132G>A, XM_047424745.1:c.1614G>A, XM_047424742.1:c.1614G>A, XM_047424749.1:c.1614G>A, XM_047424747.1:c.1614G>A, XM_047424723.1:c.1614G>A, XM_047424727.1:c.1614G>A, XM_047424739.1:c.1614G>A, XM_047424732.1:c.1614G>A, XM_047424726.1:c.1614G>A, XM_047424736.1:c.1614G>A, XM_047424729.1:c.1614G>A, XM_047424744.1:c.1614G>A, XM_047424725.1:c.1614G>A, XM_047424733.1:c.1614G>A, XM_047424735.1:c.1614G>A, XM_047424731.1:c.1614G>A, XM_047424730.1:c.1614G>A, XM_047424750.1:c.1467G>A, NM_001387405.1:c.1614G>A, XM_047424724.1:c.1614G>A, XM_047424728.1:c.1614G>A, XM_047424746.1:c.1614G>A, XM_047424734.1:c.1614G>A, XM_047424748.1:c.1614G>A, XM_047424737.1:c.1614G>A, XM_047424738.1:c.1614G>A, XM_047424740.1:c.1614G>A, NM_001387412.1:c.1614G>A, NM_001387411.1:c.1614G>A, XM_047424741.1:c.1614G>A, NR_170660.1:n.1082G>A, NR_170659.1:n.983G>A

                                16.

                                rs1475113784 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  10:30849357 (GRCh38)
                                  10:31138286 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:30849356:G:C
                                  Gene:
                                  ZNF438 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000010.11:g.30849357G>C, NC_000010.10:g.31138286G>C, XM_006717399.4:c.1018C>G, XM_006717399.3:c.1018C>G, XM_006717399.2:c.1018C>G, XM_006717399.1:c.1018C>G, XM_011519373.4:c.1048C>G, XM_011519373.3:c.1048C>G, XM_011519373.2:c.1048C>G, XM_011519373.1:c.1048C>G, XM_017015870.3:c.1048C>G, XM_017015870.2:c.1048C>G, XM_017015870.1:c.1048C>G, XM_011519376.3:c.1018C>G, XM_011519376.2:c.1018C>G, XM_011519376.1:c.1018C>G, XM_011519374.3:c.1048C>G, XM_011519374.2:c.1048C>G, XM_011519374.1:c.1048C>G, XM_011519377.3:c.1018C>G, XM_011519377.2:c.1018C>G, XM_011519377.1:c.1018C>G, XM_011519372.3:c.1048C>G, XM_011519372.2:c.1048C>G, XM_011519372.1:c.1048C>G, NM_182755.3:c.1048C>G, NM_182755.2:c.1048C>G, XM_017015869.3:c.1048C>G, XM_017015869.2:c.1048C>G, XM_017015869.1:c.1048C>G, XM_017015863.3:c.1081C>G, XM_017015863.2:c.1081C>G, XM_017015863.1:c.1081C>G, NM_001143769.2:c.901C>G, NM_001143769.1:c.901C>G, XM_024447868.2:c.1048C>G, XM_024447868.1:c.1048C>G, XM_024447869.2:c.1048C>G, XM_024447869.1:c.1048C>G, NM_001143770.2:c.1018C>G, NM_001143770.1:c.1018C>G, NM_001143771.2:c.1018C>G, NM_001143771.1:c.1018C>G, XM_024447871.2:c.1048C>G, XM_024447871.1:c.1048C>G, NM_001143766.2:c.1048C>G, NM_001143766.1:c.1048C>G, XM_024447873.2:c.1048C>G, XM_024447873.1:c.1048C>G, XM_024447870.2:c.1048C>G, XM_024447870.1:c.1048C>G, XM_024447872.2:c.1048C>G, XM_024447872.1:c.1048C>G, NM_001143768.2:c.1048C>G, NM_001143768.1:c.1048C>G, NM_001143767.2:c.1048C>G, NM_001143767.1:c.1048C>G, XM_017015877.2:c.-261C>G, XM_017015877.1:c.-261C>G, NR_026560.2:n.494C>G, NR_026560.1:n.566C>G, XM_047424745.1:c.1048C>G, XM_047424742.1:c.1048C>G, XM_047424749.1:c.1048C>G, XM_047424747.1:c.1048C>G, XM_047424723.1:c.1048C>G, XM_047424727.1:c.1048C>G, XM_047424739.1:c.1048C>G, XM_047424732.1:c.1048C>G, XM_047424726.1:c.1048C>G, XM_047424736.1:c.1048C>G, XM_047424729.1:c.1048C>G, XM_047424744.1:c.1048C>G, XM_047424725.1:c.1048C>G, XM_047424733.1:c.1048C>G, XM_047424735.1:c.1048C>G, XM_047424731.1:c.1048C>G, XM_047424730.1:c.1048C>G, XM_047424750.1:c.901C>G, NM_001387405.1:c.1048C>G, XM_047424724.1:c.1048C>G, XM_047424728.1:c.1048C>G, XM_047424746.1:c.1048C>G, XM_047424734.1:c.1048C>G, XM_047424748.1:c.1048C>G, XM_047424737.1:c.1048C>G, XM_047424738.1:c.1048C>G, XM_047424740.1:c.1048C>G, NM_001387412.1:c.1048C>G, NM_001387411.1:c.1048C>G, XM_047424741.1:c.1048C>G, NR_170660.1:n.516C>G, NR_170659.1:n.417C>G, XP_006717462.1:p.Gln340Glu, XP_011517675.1:p.Gln350Glu, XP_016871359.1:p.Gln350Glu, XP_011517678.1:p.Gln340Glu, XP_011517676.1:p.Gln350Glu, XP_011517679.1:p.Gln340Glu, XP_011517674.1:p.Gln350Glu, NP_877432.1:p.Gln350Glu, XP_016871358.1:p.Gln350Glu, XP_016871352.1:p.Gln361Glu, NP_001137241.1:p.Gln301Glu, XP_024303636.1:p.Gln350Glu, XP_024303637.1:p.Gln350Glu, NP_001137242.1:p.Gln340Glu, NP_001137243.1:p.Gln340Glu, XP_024303639.1:p.Gln350Glu, NP_001137238.1:p.Gln350Glu, XP_024303641.1:p.Gln350Glu, XP_024303638.1:p.Gln350Glu, XP_024303640.1:p.Gln350Glu, NP_001137240.1:p.Gln350Glu, NP_001137239.1:p.Gln350Glu, XP_047280701.1:p.Gln350Glu, XP_047280698.1:p.Gln350Glu, XP_047280705.1:p.Gln350Glu, XP_047280703.1:p.Gln350Glu, XP_047280679.1:p.Gln350Glu, XP_047280683.1:p.Gln350Glu, XP_047280695.1:p.Gln350Glu, XP_047280688.1:p.Gln350Glu, XP_047280682.1:p.Gln350Glu, XP_047280692.1:p.Gln350Glu, XP_047280685.1:p.Gln350Glu, XP_047280700.1:p.Gln350Glu, XP_047280681.1:p.Gln350Glu, XP_047280689.1:p.Gln350Glu, XP_047280691.1:p.Gln350Glu, XP_047280687.1:p.Gln350Glu, XP_047280686.1:p.Gln350Glu, XP_047280706.1:p.Gln301Glu, NP_001374334.1:p.Gln350Glu, XP_047280680.1:p.Gln350Glu, XP_047280684.1:p.Gln350Glu, XP_047280702.1:p.Gln350Glu, XP_047280690.1:p.Gln350Glu, XP_047280704.1:p.Gln350Glu, XP_047280693.1:p.Gln350Glu, XP_047280694.1:p.Gln350Glu, XP_047280696.1:p.Gln350Glu, NP_001374341.1:p.Gln350Glu, NP_001374340.1:p.Gln350Glu, XP_047280697.1:p.Gln350Glu

                                  17.

                                  rs1474727765 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    10:30849462 (GRCh38)
                                    10:31138391 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:30849461:C:A
                                    Gene:
                                    ZNF438 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.30849462C>A, NC_000010.10:g.31138391C>A, XM_006717399.4:c.913G>T, XM_006717399.3:c.913G>T, XM_006717399.2:c.913G>T, XM_006717399.1:c.913G>T, XM_011519373.4:c.943G>T, XM_011519373.3:c.943G>T, XM_011519373.2:c.943G>T, XM_011519373.1:c.943G>T, XM_017015870.3:c.943G>T, XM_017015870.2:c.943G>T, XM_017015870.1:c.943G>T, XM_011519376.3:c.913G>T, XM_011519376.2:c.913G>T, XM_011519376.1:c.913G>T, XM_011519374.3:c.943G>T, XM_011519374.2:c.943G>T, XM_011519374.1:c.943G>T, XM_011519377.3:c.913G>T, XM_011519377.2:c.913G>T, XM_011519377.1:c.913G>T, XM_011519372.3:c.943G>T, XM_011519372.2:c.943G>T, XM_011519372.1:c.943G>T, NM_182755.3:c.943G>T, NM_182755.2:c.943G>T, XM_017015869.3:c.943G>T, XM_017015869.2:c.943G>T, XM_017015869.1:c.943G>T, XM_017015863.3:c.976G>T, XM_017015863.2:c.976G>T, XM_017015863.1:c.976G>T, NM_001143769.2:c.796G>T, NM_001143769.1:c.796G>T, XM_024447868.2:c.943G>T, XM_024447868.1:c.943G>T, XM_024447869.2:c.943G>T, XM_024447869.1:c.943G>T, NM_001143770.2:c.913G>T, NM_001143770.1:c.913G>T, NM_001143771.2:c.913G>T, NM_001143771.1:c.913G>T, XM_024447871.2:c.943G>T, XM_024447871.1:c.943G>T, NM_001143766.2:c.943G>T, NM_001143766.1:c.943G>T, XM_024447873.2:c.943G>T, XM_024447873.1:c.943G>T, XM_024447870.2:c.943G>T, XM_024447870.1:c.943G>T, XM_024447872.2:c.943G>T, XM_024447872.1:c.943G>T, NM_001143768.2:c.943G>T, NM_001143768.1:c.943G>T, NM_001143767.2:c.943G>T, NM_001143767.1:c.943G>T, XM_047424745.1:c.943G>T, XM_047424742.1:c.943G>T, XM_047424749.1:c.943G>T, XM_047424747.1:c.943G>T, XM_047424723.1:c.943G>T, XM_047424727.1:c.943G>T, XM_047424739.1:c.943G>T, XM_047424732.1:c.943G>T, XM_047424726.1:c.943G>T, XM_047424736.1:c.943G>T, XM_047424729.1:c.943G>T, XM_047424744.1:c.943G>T, XM_047424725.1:c.943G>T, XM_047424733.1:c.943G>T, XM_047424735.1:c.943G>T, XM_047424731.1:c.943G>T, XM_047424730.1:c.943G>T, XM_047424750.1:c.796G>T, NM_001387405.1:c.943G>T, XM_047424724.1:c.943G>T, XM_047424728.1:c.943G>T, XM_047424746.1:c.943G>T, XM_047424734.1:c.943G>T, XM_047424748.1:c.943G>T, XM_047424737.1:c.943G>T, XM_047424738.1:c.943G>T, XM_047424740.1:c.943G>T, NM_001387412.1:c.943G>T, NM_001387411.1:c.943G>T, XM_047424741.1:c.943G>T, XP_006717462.1:p.Ala305Ser, XP_011517675.1:p.Ala315Ser, XP_016871359.1:p.Ala315Ser, XP_011517678.1:p.Ala305Ser, XP_011517676.1:p.Ala315Ser, XP_011517679.1:p.Ala305Ser, XP_011517674.1:p.Ala315Ser, NP_877432.1:p.Ala315Ser, XP_016871358.1:p.Ala315Ser, XP_016871352.1:p.Ala326Ser, NP_001137241.1:p.Ala266Ser, XP_024303636.1:p.Ala315Ser, XP_024303637.1:p.Ala315Ser, NP_001137242.1:p.Ala305Ser, NP_001137243.1:p.Ala305Ser, XP_024303639.1:p.Ala315Ser, NP_001137238.1:p.Ala315Ser, XP_024303641.1:p.Ala315Ser, XP_024303638.1:p.Ala315Ser, XP_024303640.1:p.Ala315Ser, NP_001137240.1:p.Ala315Ser, NP_001137239.1:p.Ala315Ser, XP_047280701.1:p.Ala315Ser, XP_047280698.1:p.Ala315Ser, XP_047280705.1:p.Ala315Ser, XP_047280703.1:p.Ala315Ser, XP_047280679.1:p.Ala315Ser, XP_047280683.1:p.Ala315Ser, XP_047280695.1:p.Ala315Ser, XP_047280688.1:p.Ala315Ser, XP_047280682.1:p.Ala315Ser, XP_047280692.1:p.Ala315Ser, XP_047280685.1:p.Ala315Ser, XP_047280700.1:p.Ala315Ser, XP_047280681.1:p.Ala315Ser, XP_047280689.1:p.Ala315Ser, XP_047280691.1:p.Ala315Ser, XP_047280687.1:p.Ala315Ser, XP_047280686.1:p.Ala315Ser, XP_047280706.1:p.Ala266Ser, NP_001374334.1:p.Ala315Ser, XP_047280680.1:p.Ala315Ser, XP_047280684.1:p.Ala315Ser, XP_047280702.1:p.Ala315Ser, XP_047280690.1:p.Ala315Ser, XP_047280704.1:p.Ala315Ser, XP_047280693.1:p.Ala315Ser, XP_047280694.1:p.Ala315Ser, XP_047280696.1:p.Ala315Ser, NP_001374341.1:p.Ala315Ser, NP_001374340.1:p.Ala315Ser, XP_047280697.1:p.Ala315Ser

                                    18.

                                    rs1471692360 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      10:30845114 (GRCh38)
                                      10:31134043 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:30845113:G:A
                                      Gene:
                                      ZNF438 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.30845114G>A, NC_000010.10:g.31134043G>A, XM_006717399.4:c.2304C>T, XM_006717399.3:c.2304C>T, XM_006717399.2:c.2304C>T, XM_006717399.1:c.2304C>T, XM_011519373.4:c.2334C>T, XM_011519373.3:c.2334C>T, XM_011519373.2:c.2334C>T, XM_011519373.1:c.2334C>T, XM_017015870.3:c.2334C>T, XM_017015870.2:c.2334C>T, XM_017015870.1:c.2334C>T, XM_011519376.3:c.2304C>T, XM_011519376.2:c.2304C>T, XM_011519376.1:c.2304C>T, XM_011519374.3:c.2334C>T, XM_011519374.2:c.2334C>T, XM_011519374.1:c.2334C>T, XM_011519377.3:c.2304C>T, XM_011519377.2:c.2304C>T, XM_011519377.1:c.2304C>T, XM_011519372.3:c.2334C>T, XM_011519372.2:c.2334C>T, XM_011519372.1:c.2334C>T, NM_182755.3:c.2334C>T, NM_182755.2:c.2334C>T, XM_017015869.3:c.2334C>T, XM_017015869.2:c.2334C>T, XM_017015869.1:c.2334C>T, XM_017015863.3:c.2367C>T, XM_017015863.2:c.2367C>T, XM_017015863.1:c.2367C>T, NM_001143769.2:c.2187C>T, NM_001143769.1:c.2187C>T, XM_024447868.2:c.2334C>T, XM_024447868.1:c.2334C>T, XM_024447869.2:c.2334C>T, XM_024447869.1:c.2334C>T, NM_001143770.2:c.2304C>T, NM_001143770.1:c.2304C>T, NM_001143771.2:c.2304C>T, NM_001143771.1:c.2304C>T, XM_024447871.2:c.2334C>T, XM_024447871.1:c.2334C>T, NM_001143766.2:c.2334C>T, NM_001143766.1:c.2334C>T, XM_024447873.2:c.2334C>T, XM_024447873.1:c.2334C>T, XM_024447870.2:c.2334C>T, XM_024447870.1:c.2334C>T, XM_024447872.2:c.2334C>T, XM_024447872.1:c.2334C>T, NM_001143768.2:c.2334C>T, NM_001143768.1:c.2334C>T, NM_001143767.2:c.2334C>T, NM_001143767.1:c.2334C>T, XM_017015877.2:c.1026C>T, XM_017015877.1:c.1026C>T, NR_026560.2:n.1780C>T, NR_026560.1:n.1852C>T, XM_047424745.1:c.2334C>T, XM_047424742.1:c.2334C>T, XM_047424749.1:c.2334C>T, XM_047424747.1:c.2334C>T, XM_047424723.1:c.2334C>T, XM_047424727.1:c.2334C>T, XM_047424739.1:c.2334C>T, XM_047424732.1:c.2334C>T, XM_047424726.1:c.2334C>T, XM_047424736.1:c.2334C>T, XM_047424729.1:c.2334C>T, XM_047424744.1:c.2334C>T, XM_047424725.1:c.2334C>T, XM_047424733.1:c.2334C>T, XM_047424735.1:c.2334C>T, XM_047424731.1:c.2334C>T, XM_047424730.1:c.2334C>T, XM_047424750.1:c.2187C>T, NM_001387405.1:c.2334C>T, XM_047424724.1:c.2334C>T, XM_047424728.1:c.2334C>T, XM_047424746.1:c.2334C>T, XM_047424734.1:c.2334C>T, XM_047424748.1:c.2334C>T, XM_047424737.1:c.2334C>T, XM_047424738.1:c.2334C>T, XM_047424740.1:c.2334C>T, NM_001387412.1:c.2334C>T, NM_001387411.1:c.2334C>T, XM_047424741.1:c.2334C>T, NR_170660.1:n.1802C>T, NR_170659.1:n.1703C>T

                                      19.

                                      rs1471291273 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        10:30845335 (GRCh38)
                                        10:31134264 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:30845334:G:A,NC_000010.11:30845334:G:C
                                        Gene:
                                        ZNF438 (Varview)
                                        Functional Consequence:
                                        coding_sequence_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)
                                        HGVS:
                                        NC_000010.11:g.30845335G>A, NC_000010.11:g.30845335G>C, NC_000010.10:g.31134264G>A, NC_000010.10:g.31134264G>C, XM_006717399.4:c.2083C>T, XM_006717399.4:c.2083C>G, XM_006717399.3:c.2083C>T, XM_006717399.3:c.2083C>G, XM_006717399.2:c.2083C>T, XM_006717399.2:c.2083C>G, XM_006717399.1:c.2083C>T, XM_006717399.1:c.2083C>G, XM_011519373.4:c.2113C>T, XM_011519373.4:c.2113C>G, XM_011519373.3:c.2113C>T, XM_011519373.3:c.2113C>G, XM_011519373.2:c.2113C>T, XM_011519373.2:c.2113C>G, XM_011519373.1:c.2113C>T, XM_011519373.1:c.2113C>G, XM_017015870.3:c.2113C>T, XM_017015870.3:c.2113C>G, XM_017015870.2:c.2113C>T, XM_017015870.2:c.2113C>G, XM_017015870.1:c.2113C>T, XM_017015870.1:c.2113C>G, XM_011519376.3:c.2083C>T, XM_011519376.3:c.2083C>G, XM_011519376.2:c.2083C>T, XM_011519376.2:c.2083C>G, XM_011519376.1:c.2083C>T, XM_011519376.1:c.2083C>G, XM_011519374.3:c.2113C>T, XM_011519374.3:c.2113C>G, XM_011519374.2:c.2113C>T, XM_011519374.2:c.2113C>G, XM_011519374.1:c.2113C>T, XM_011519374.1:c.2113C>G, XM_011519377.3:c.2083C>T, XM_011519377.3:c.2083C>G, XM_011519377.2:c.2083C>T, XM_011519377.2:c.2083C>G, XM_011519377.1:c.2083C>T, XM_011519377.1:c.2083C>G, XM_011519372.3:c.2113C>T, XM_011519372.3:c.2113C>G, XM_011519372.2:c.2113C>T, XM_011519372.2:c.2113C>G, XM_011519372.1:c.2113C>T, XM_011519372.1:c.2113C>G, NM_182755.3:c.2113C>T, NM_182755.3:c.2113C>G, NM_182755.2:c.2113C>T, NM_182755.2:c.2113C>G, XM_017015869.3:c.2113C>T, XM_017015869.3:c.2113C>G, XM_017015869.2:c.2113C>T, XM_017015869.2:c.2113C>G, XM_017015869.1:c.2113C>T, XM_017015869.1:c.2113C>G, XM_017015863.3:c.2146C>T, XM_017015863.3:c.2146C>G, XM_017015863.2:c.2146C>T, XM_017015863.2:c.2146C>G, XM_017015863.1:c.2146C>T, XM_017015863.1:c.2146C>G, NM_001143769.2:c.1966C>T, NM_001143769.2:c.1966C>G, NM_001143769.1:c.1966C>T, NM_001143769.1:c.1966C>G, XM_024447868.2:c.2113C>T, XM_024447868.2:c.2113C>G, XM_024447868.1:c.2113C>T, XM_024447868.1:c.2113C>G, XM_024447869.2:c.2113C>T, XM_024447869.2:c.2113C>G, XM_024447869.1:c.2113C>T, XM_024447869.1:c.2113C>G, NM_001143770.2:c.2083C>T, NM_001143770.2:c.2083C>G, NM_001143770.1:c.2083C>T, NM_001143770.1:c.2083C>G, NM_001143771.2:c.2083C>T, NM_001143771.2:c.2083C>G, NM_001143771.1:c.2083C>T, NM_001143771.1:c.2083C>G, XM_024447871.2:c.2113C>T, XM_024447871.2:c.2113C>G, XM_024447871.1:c.2113C>T, XM_024447871.1:c.2113C>G, NM_001143766.2:c.2113C>T, NM_001143766.2:c.2113C>G, NM_001143766.1:c.2113C>T, NM_001143766.1:c.2113C>G, XM_024447873.2:c.2113C>T, XM_024447873.2:c.2113C>G, XM_024447873.1:c.2113C>T, XM_024447873.1:c.2113C>G, XM_024447870.2:c.2113C>T, XM_024447870.2:c.2113C>G, XM_024447870.1:c.2113C>T, XM_024447870.1:c.2113C>G, XM_024447872.2:c.2113C>T, XM_024447872.2:c.2113C>G, XM_024447872.1:c.2113C>T, XM_024447872.1:c.2113C>G, NM_001143768.2:c.2113C>T, NM_001143768.2:c.2113C>G, NM_001143768.1:c.2113C>T, NM_001143768.1:c.2113C>G, NM_001143767.2:c.2113C>T, NM_001143767.2:c.2113C>G, NM_001143767.1:c.2113C>T, NM_001143767.1:c.2113C>G, XM_017015877.2:c.805C>T, XM_017015877.2:c.805C>G, XM_017015877.1:c.805C>T, XM_017015877.1:c.805C>G, NR_026560.2:n.1559C>T, NR_026560.2:n.1559C>G, NR_026560.1:n.1631C>T, NR_026560.1:n.1631C>G, XM_047424745.1:c.2113C>T, XM_047424745.1:c.2113C>G, XM_047424742.1:c.2113C>T, XM_047424742.1:c.2113C>G, XM_047424749.1:c.2113C>T, XM_047424749.1:c.2113C>G, XM_047424747.1:c.2113C>T, XM_047424747.1:c.2113C>G, XM_047424723.1:c.2113C>T, XM_047424723.1:c.2113C>G, XM_047424727.1:c.2113C>T, XM_047424727.1:c.2113C>G, XM_047424739.1:c.2113C>T, XM_047424739.1:c.2113C>G, XM_047424732.1:c.2113C>T, XM_047424732.1:c.2113C>G, XM_047424726.1:c.2113C>T, XM_047424726.1:c.2113C>G, XM_047424736.1:c.2113C>T, XM_047424736.1:c.2113C>G, XM_047424729.1:c.2113C>T, XM_047424729.1:c.2113C>G, XM_047424744.1:c.2113C>T, XM_047424744.1:c.2113C>G, XM_047424725.1:c.2113C>T, XM_047424725.1:c.2113C>G, XM_047424733.1:c.2113C>T, XM_047424733.1:c.2113C>G, XM_047424735.1:c.2113C>T, XM_047424735.1:c.2113C>G, XM_047424731.1:c.2113C>T, XM_047424731.1:c.2113C>G, XM_047424730.1:c.2113C>T, XM_047424730.1:c.2113C>G, XM_047424750.1:c.1966C>T, XM_047424750.1:c.1966C>G, NM_001387405.1:c.2113C>T, NM_001387405.1:c.2113C>G, XM_047424724.1:c.2113C>T, XM_047424724.1:c.2113C>G, XM_047424728.1:c.2113C>T, XM_047424728.1:c.2113C>G, XM_047424746.1:c.2113C>T, XM_047424746.1:c.2113C>G, XM_047424734.1:c.2113C>T, XM_047424734.1:c.2113C>G, XM_047424748.1:c.2113C>T, XM_047424748.1:c.2113C>G, XM_047424737.1:c.2113C>T, XM_047424737.1:c.2113C>G, XM_047424738.1:c.2113C>T, XM_047424738.1:c.2113C>G, XM_047424740.1:c.2113C>T, XM_047424740.1:c.2113C>G, NM_001387412.1:c.2113C>T, NM_001387412.1:c.2113C>G, NM_001387411.1:c.2113C>T, NM_001387411.1:c.2113C>G, XM_047424741.1:c.2113C>T, XM_047424741.1:c.2113C>G, NR_170660.1:n.1581C>T, NR_170660.1:n.1581C>G, NR_170659.1:n.1482C>T, NR_170659.1:n.1482C>G, XP_006717462.1:p.Pro695Ser, XP_006717462.1:p.Pro695Ala, XP_011517675.1:p.Pro705Ser, XP_011517675.1:p.Pro705Ala, XP_016871359.1:p.Pro705Ser, XP_016871359.1:p.Pro705Ala, XP_011517678.1:p.Pro695Ser, XP_011517678.1:p.Pro695Ala, XP_011517676.1:p.Pro705Ser, XP_011517676.1:p.Pro705Ala, XP_011517679.1:p.Pro695Ser, XP_011517679.1:p.Pro695Ala, XP_011517674.1:p.Pro705Ser, XP_011517674.1:p.Pro705Ala, NP_877432.1:p.Pro705Ser, NP_877432.1:p.Pro705Ala, XP_016871358.1:p.Pro705Ser, XP_016871358.1:p.Pro705Ala, XP_016871352.1:p.Pro716Ser, XP_016871352.1:p.Pro716Ala, NP_001137241.1:p.Pro656Ser, NP_001137241.1:p.Pro656Ala, XP_024303636.1:p.Pro705Ser, XP_024303636.1:p.Pro705Ala, XP_024303637.1:p.Pro705Ser, XP_024303637.1:p.Pro705Ala, NP_001137242.1:p.Pro695Ser, NP_001137242.1:p.Pro695Ala, NP_001137243.1:p.Pro695Ser, NP_001137243.1:p.Pro695Ala, XP_024303639.1:p.Pro705Ser, XP_024303639.1:p.Pro705Ala, NP_001137238.1:p.Pro705Ser, NP_001137238.1:p.Pro705Ala, XP_024303641.1:p.Pro705Ser, XP_024303641.1:p.Pro705Ala, XP_024303638.1:p.Pro705Ser, XP_024303638.1:p.Pro705Ala, XP_024303640.1:p.Pro705Ser, XP_024303640.1:p.Pro705Ala, NP_001137240.1:p.Pro705Ser, NP_001137240.1:p.Pro705Ala, NP_001137239.1:p.Pro705Ser, NP_001137239.1:p.Pro705Ala, XP_016871366.1:p.Pro269Ser, XP_016871366.1:p.Pro269Ala, XP_047280701.1:p.Pro705Ser, XP_047280701.1:p.Pro705Ala, XP_047280698.1:p.Pro705Ser, XP_047280698.1:p.Pro705Ala, XP_047280705.1:p.Pro705Ser, XP_047280705.1:p.Pro705Ala, XP_047280703.1:p.Pro705Ser, XP_047280703.1:p.Pro705Ala, XP_047280679.1:p.Pro705Ser, XP_047280679.1:p.Pro705Ala, XP_047280683.1:p.Pro705Ser, XP_047280683.1:p.Pro705Ala, XP_047280695.1:p.Pro705Ser, XP_047280695.1:p.Pro705Ala, XP_047280688.1:p.Pro705Ser, XP_047280688.1:p.Pro705Ala, XP_047280682.1:p.Pro705Ser, XP_047280682.1:p.Pro705Ala, XP_047280692.1:p.Pro705Ser, XP_047280692.1:p.Pro705Ala, XP_047280685.1:p.Pro705Ser, XP_047280685.1:p.Pro705Ala, XP_047280700.1:p.Pro705Ser, XP_047280700.1:p.Pro705Ala, XP_047280681.1:p.Pro705Ser, XP_047280681.1:p.Pro705Ala, XP_047280689.1:p.Pro705Ser, XP_047280689.1:p.Pro705Ala, XP_047280691.1:p.Pro705Ser, XP_047280691.1:p.Pro705Ala, XP_047280687.1:p.Pro705Ser, XP_047280687.1:p.Pro705Ala, XP_047280686.1:p.Pro705Ser, XP_047280686.1:p.Pro705Ala, XP_047280706.1:p.Pro656Ser, XP_047280706.1:p.Pro656Ala, NP_001374334.1:p.Pro705Ser, NP_001374334.1:p.Pro705Ala, XP_047280680.1:p.Pro705Ser, XP_047280680.1:p.Pro705Ala, XP_047280684.1:p.Pro705Ser, XP_047280684.1:p.Pro705Ala, XP_047280702.1:p.Pro705Ser, XP_047280702.1:p.Pro705Ala, XP_047280690.1:p.Pro705Ser, XP_047280690.1:p.Pro705Ala, XP_047280704.1:p.Pro705Ser, XP_047280704.1:p.Pro705Ala, XP_047280693.1:p.Pro705Ser, XP_047280693.1:p.Pro705Ala, XP_047280694.1:p.Pro705Ser, XP_047280694.1:p.Pro705Ala, XP_047280696.1:p.Pro705Ser, XP_047280696.1:p.Pro705Ala, NP_001374341.1:p.Pro705Ser, NP_001374341.1:p.Pro705Ala, NP_001374340.1:p.Pro705Ser, NP_001374340.1:p.Pro705Ala, XP_047280697.1:p.Pro705Ser, XP_047280697.1:p.Pro705Ala

                                        20.

                                        rs1471202299 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          10:30845375 (GRCh38)
                                          10:31134304 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:30845374:T:C
                                          Gene:
                                          ZNF438 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.30845375T>C, NC_000010.10:g.31134304T>C, XM_006717399.4:c.2043A>G, XM_006717399.3:c.2043A>G, XM_006717399.2:c.2043A>G, XM_006717399.1:c.2043A>G, XM_011519373.4:c.2073A>G, XM_011519373.3:c.2073A>G, XM_011519373.2:c.2073A>G, XM_011519373.1:c.2073A>G, XM_017015870.3:c.2073A>G, XM_017015870.2:c.2073A>G, XM_017015870.1:c.2073A>G, XM_011519376.3:c.2043A>G, XM_011519376.2:c.2043A>G, XM_011519376.1:c.2043A>G, XM_011519374.3:c.2073A>G, XM_011519374.2:c.2073A>G, XM_011519374.1:c.2073A>G, XM_011519377.3:c.2043A>G, XM_011519377.2:c.2043A>G, XM_011519377.1:c.2043A>G, XM_011519372.3:c.2073A>G, XM_011519372.2:c.2073A>G, XM_011519372.1:c.2073A>G, NM_182755.3:c.2073A>G, NM_182755.2:c.2073A>G, XM_017015869.3:c.2073A>G, XM_017015869.2:c.2073A>G, XM_017015869.1:c.2073A>G, XM_017015863.3:c.2106A>G, XM_017015863.2:c.2106A>G, XM_017015863.1:c.2106A>G, NM_001143769.2:c.1926A>G, NM_001143769.1:c.1926A>G, XM_024447868.2:c.2073A>G, XM_024447868.1:c.2073A>G, XM_024447869.2:c.2073A>G, XM_024447869.1:c.2073A>G, NM_001143770.2:c.2043A>G, NM_001143770.1:c.2043A>G, NM_001143771.2:c.2043A>G, NM_001143771.1:c.2043A>G, XM_024447871.2:c.2073A>G, XM_024447871.1:c.2073A>G, NM_001143766.2:c.2073A>G, NM_001143766.1:c.2073A>G, XM_024447873.2:c.2073A>G, XM_024447873.1:c.2073A>G, XM_024447870.2:c.2073A>G, XM_024447870.1:c.2073A>G, XM_024447872.2:c.2073A>G, XM_024447872.1:c.2073A>G, NM_001143768.2:c.2073A>G, NM_001143768.1:c.2073A>G, NM_001143767.2:c.2073A>G, NM_001143767.1:c.2073A>G, XM_017015877.2:c.765A>G, XM_017015877.1:c.765A>G, NR_026560.2:n.1519A>G, NR_026560.1:n.1591A>G, XM_047424745.1:c.2073A>G, XM_047424742.1:c.2073A>G, XM_047424749.1:c.2073A>G, XM_047424747.1:c.2073A>G, XM_047424723.1:c.2073A>G, XM_047424727.1:c.2073A>G, XM_047424739.1:c.2073A>G, XM_047424732.1:c.2073A>G, XM_047424726.1:c.2073A>G, XM_047424736.1:c.2073A>G, XM_047424729.1:c.2073A>G, XM_047424744.1:c.2073A>G, XM_047424725.1:c.2073A>G, XM_047424733.1:c.2073A>G, XM_047424735.1:c.2073A>G, XM_047424731.1:c.2073A>G, XM_047424730.1:c.2073A>G, XM_047424750.1:c.1926A>G, NM_001387405.1:c.2073A>G, XM_047424724.1:c.2073A>G, XM_047424728.1:c.2073A>G, XM_047424746.1:c.2073A>G, XM_047424734.1:c.2073A>G, XM_047424748.1:c.2073A>G, XM_047424737.1:c.2073A>G, XM_047424738.1:c.2073A>G, XM_047424740.1:c.2073A>G, NM_001387412.1:c.2073A>G, NM_001387411.1:c.2073A>G, XM_047424741.1:c.2073A>G, NR_170660.1:n.1541A>G, NR_170659.1:n.1442A>G

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