U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 467

1.

rs1490687542 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:37128544 (GRCh38)
    19:37619446 (GRCh37)
    Canonical SPDI:
    NC_000019.10:37128543:T:C
    Gene:
    ZNF420 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.37128544T>C, NC_000019.9:g.37619446T>C, NG_051212.1:g.125730T>C, NM_144689.5:c.1553T>C, NM_144689.4:c.1553T>C, NM_144689.3:c.1553T>C, NM_001329515.3:c.1553T>C, NM_001329515.2:c.1553T>C, NM_001329515.1:c.1553T>C, NM_001329521.3:c.1340T>C, NM_001329521.2:c.1340T>C, NM_001329521.1:c.1340T>C, NM_001329516.3:c.1553T>C, NM_001329516.2:c.1553T>C, NM_001329516.1:c.1553T>C, NM_001329517.1:c.1340T>C, NM_001329519.1:c.1340T>C, NM_001329518.1:c.1340T>C, NM_001329520.1:c.1340T>C, XM_011526507.4:c.1340T>C, XM_011526507.3:c.1340T>C, XM_011526507.2:c.1340T>C, XM_011526507.1:c.1340T>C, XM_006723038.4:c.1553T>C, XM_006723038.3:c.1553T>C, XM_006723038.2:c.1553T>C, XM_006723038.1:c.1553T>C, XM_011526504.3:c.1553T>C, XM_011526504.2:c.1553T>C, XM_011526504.1:c.1553T>C, XM_011526503.3:c.1553T>C, XM_011526503.2:c.1553T>C, XM_011526503.1:c.1553T>C, XM_011526508.3:c.1340T>C, XM_011526508.2:c.1340T>C, XM_011526508.1:c.1340T>C, XM_011526510.3:c.1340T>C, XM_011526510.2:c.1340T>C, XM_011526510.1:c.1340T>C, XM_017026338.2:c.1340T>C, XM_017026338.1:c.1340T>C, XM_047438229.1:c.1553T>C, XM_047438230.1:c.1553T>C, XM_047438231.1:c.1340T>C, NP_653290.2:p.Leu518Pro, NP_001316444.1:p.Leu518Pro, NP_001316450.1:p.Leu447Pro, NP_001316445.1:p.Leu518Pro, NP_001316446.1:p.Leu447Pro, NP_001316448.1:p.Leu447Pro, NP_001316447.1:p.Leu447Pro, NP_001316449.1:p.Leu447Pro, XP_011524809.1:p.Leu447Pro, XP_006723101.1:p.Leu518Pro, XP_011524806.1:p.Leu518Pro, XP_011524805.1:p.Leu518Pro, XP_011524810.1:p.Leu447Pro, XP_011524812.1:p.Leu447Pro, XP_016881827.1:p.Leu447Pro, XP_047294185.1:p.Leu518Pro, XP_047294186.1:p.Leu518Pro, XP_047294187.1:p.Leu447Pro

    2.

    rs1487563804 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:37127523 (GRCh38)
      19:37618425 (GRCh37)
      Canonical SPDI:
      NC_000019.10:37127522:C:T
      Gene:
      ZNF420 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      T=0.000035/1 (TOMMO)
      HGVS:
      NC_000019.10:g.37127523C>T, NC_000019.9:g.37618425C>T, NG_051212.1:g.124709C>T, NM_144689.5:c.532C>T, NM_144689.4:c.532C>T, NM_144689.3:c.532C>T, NM_001329515.3:c.532C>T, NM_001329515.2:c.532C>T, NM_001329515.1:c.532C>T, NM_001329521.3:c.319C>T, NM_001329521.2:c.319C>T, NM_001329521.1:c.319C>T, NM_001329516.3:c.532C>T, NM_001329516.2:c.532C>T, NM_001329516.1:c.532C>T, NM_001329522.3:c.532C>T, NM_001329522.2:c.532C>T, NM_001329522.1:c.532C>T, NM_001329524.3:c.319C>T, NM_001329524.2:c.319C>T, NM_001329524.1:c.319C>T, NM_001329517.1:c.319C>T, NM_001329519.1:c.319C>T, NM_001329518.1:c.319C>T, NM_001329520.1:c.319C>T, XM_011526507.4:c.319C>T, XM_011526507.3:c.319C>T, XM_011526507.2:c.319C>T, XM_011526507.1:c.319C>T, XM_006723038.4:c.532C>T, XM_006723038.3:c.532C>T, XM_006723038.2:c.532C>T, XM_006723038.1:c.532C>T, XM_011526504.3:c.532C>T, XM_011526504.2:c.532C>T, XM_011526504.1:c.532C>T, XM_011526503.3:c.532C>T, XM_011526503.2:c.532C>T, XM_011526503.1:c.532C>T, XM_011526508.3:c.319C>T, XM_011526508.2:c.319C>T, XM_011526508.1:c.319C>T, XM_011526510.3:c.319C>T, XM_011526510.2:c.319C>T, XM_011526510.1:c.319C>T, XM_011526511.3:c.532C>T, XM_011526511.2:c.532C>T, XM_011526511.1:c.532C>T, XM_017026338.2:c.319C>T, XM_017026338.1:c.319C>T, XM_047438229.1:c.532C>T, XM_047438230.1:c.532C>T, XM_047438231.1:c.319C>T, XM_047438232.1:c.532C>T, NP_653290.2:p.Arg178Cys, NP_001316444.1:p.Arg178Cys, NP_001316450.1:p.Arg107Cys, NP_001316445.1:p.Arg178Cys, NP_001316451.1:p.Arg178Cys, NP_001316453.1:p.Arg107Cys, NP_001316446.1:p.Arg107Cys, NP_001316448.1:p.Arg107Cys, NP_001316447.1:p.Arg107Cys, NP_001316449.1:p.Arg107Cys, XP_011524809.1:p.Arg107Cys, XP_006723101.1:p.Arg178Cys, XP_011524806.1:p.Arg178Cys, XP_011524805.1:p.Arg178Cys, XP_011524810.1:p.Arg107Cys, XP_011524812.1:p.Arg107Cys, XP_011524813.1:p.Arg178Cys, XP_016881827.1:p.Arg107Cys, XP_047294185.1:p.Arg178Cys, XP_047294186.1:p.Arg178Cys, XP_047294187.1:p.Arg107Cys, XP_047294188.1:p.Arg178Cys

      3.

      rs1486431306 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:37128795 (GRCh38)
        19:37619697 (GRCh37)
        Canonical SPDI:
        NC_000019.10:37128794:C:T
        Gene:
        ZNF420 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000019.10:g.37128795C>T, NC_000019.9:g.37619697C>T, NG_051212.1:g.125981C>T, NM_144689.5:c.1804C>T, NM_144689.4:c.1804C>T, NM_144689.3:c.1804C>T, NM_001329515.3:c.1804C>T, NM_001329515.2:c.1804C>T, NM_001329515.1:c.1804C>T, NM_001329521.3:c.1591C>T, NM_001329521.2:c.1591C>T, NM_001329521.1:c.1591C>T, NM_001329516.3:c.1804C>T, NM_001329516.2:c.1804C>T, NM_001329516.1:c.1804C>T, NM_001329517.1:c.1591C>T, NM_001329519.1:c.1591C>T, NM_001329518.1:c.1591C>T, NM_001329520.1:c.1591C>T, XM_011526507.4:c.1591C>T, XM_011526507.3:c.1591C>T, XM_011526507.2:c.1591C>T, XM_011526507.1:c.1591C>T, XM_006723038.4:c.1804C>T, XM_006723038.3:c.1804C>T, XM_006723038.2:c.1804C>T, XM_006723038.1:c.1804C>T, XM_011526504.3:c.1804C>T, XM_011526504.2:c.1804C>T, XM_011526504.1:c.1804C>T, XM_011526503.3:c.1804C>T, XM_011526503.2:c.1804C>T, XM_011526503.1:c.1804C>T, XM_011526508.3:c.1591C>T, XM_011526508.2:c.1591C>T, XM_011526508.1:c.1591C>T, XM_011526510.3:c.1591C>T, XM_011526510.2:c.1591C>T, XM_011526510.1:c.1591C>T, XM_017026338.2:c.1591C>T, XM_017026338.1:c.1591C>T, XM_047438229.1:c.1804C>T, XM_047438230.1:c.1804C>T, XM_047438231.1:c.1591C>T, NP_653290.2:p.Leu602Phe, NP_001316444.1:p.Leu602Phe, NP_001316450.1:p.Leu531Phe, NP_001316445.1:p.Leu602Phe, NP_001316446.1:p.Leu531Phe, NP_001316448.1:p.Leu531Phe, NP_001316447.1:p.Leu531Phe, NP_001316449.1:p.Leu531Phe, XP_011524809.1:p.Leu531Phe, XP_006723101.1:p.Leu602Phe, XP_011524806.1:p.Leu602Phe, XP_011524805.1:p.Leu602Phe, XP_011524810.1:p.Leu531Phe, XP_011524812.1:p.Leu531Phe, XP_016881827.1:p.Leu531Phe, XP_047294185.1:p.Leu602Phe, XP_047294186.1:p.Leu602Phe, XP_047294187.1:p.Leu531Phe

        4.

        rs1481954773 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          19:37127271 (GRCh38)
          19:37618173 (GRCh37)
          Canonical SPDI:
          NC_000019.10:37127270:G:A
          Gene:
          ZNF420 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.0002/1 (ALFA)
          A=0.0002/1 (Estonian)
          HGVS:
          NC_000019.10:g.37127271G>A, NC_000019.9:g.37618173G>A, NG_051212.1:g.124457G>A, NM_144689.5:c.280G>A, NM_144689.4:c.280G>A, NM_144689.3:c.280G>A, NM_001329515.3:c.280G>A, NM_001329515.2:c.280G>A, NM_001329515.1:c.280G>A, NM_001329521.3:c.67G>A, NM_001329521.2:c.67G>A, NM_001329521.1:c.67G>A, NM_001329516.3:c.280G>A, NM_001329516.2:c.280G>A, NM_001329516.1:c.280G>A, NM_001329522.3:c.280G>A, NM_001329522.2:c.280G>A, NM_001329522.1:c.280G>A, NM_001329524.3:c.67G>A, NM_001329524.2:c.67G>A, NM_001329524.1:c.67G>A, NM_001329517.1:c.67G>A, NM_001329519.1:c.67G>A, NM_001329518.1:c.67G>A, NM_001329520.1:c.67G>A, XM_011526507.4:c.67G>A, XM_011526507.3:c.67G>A, XM_011526507.2:c.67G>A, XM_011526507.1:c.67G>A, XM_006723038.4:c.280G>A, XM_006723038.3:c.280G>A, XM_006723038.2:c.280G>A, XM_006723038.1:c.280G>A, XM_011526504.3:c.280G>A, XM_011526504.2:c.280G>A, XM_011526504.1:c.280G>A, XM_011526503.3:c.280G>A, XM_011526503.2:c.280G>A, XM_011526503.1:c.280G>A, XM_011526508.3:c.67G>A, XM_011526508.2:c.67G>A, XM_011526508.1:c.67G>A, XM_011526510.3:c.67G>A, XM_011526510.2:c.67G>A, XM_011526510.1:c.67G>A, XM_011526511.3:c.280G>A, XM_011526511.2:c.280G>A, XM_011526511.1:c.280G>A, XM_017026338.2:c.67G>A, XM_017026338.1:c.67G>A, XM_047438229.1:c.280G>A, XM_047438230.1:c.280G>A, XM_047438231.1:c.67G>A, XM_047438232.1:c.280G>A, NP_653290.2:p.Gly94Ser, NP_001316444.1:p.Gly94Ser, NP_001316450.1:p.Gly23Ser, NP_001316445.1:p.Gly94Ser, NP_001316451.1:p.Gly94Ser, NP_001316453.1:p.Gly23Ser, NP_001316446.1:p.Gly23Ser, NP_001316448.1:p.Gly23Ser, NP_001316447.1:p.Gly23Ser, NP_001316449.1:p.Gly23Ser, XP_011524809.1:p.Gly23Ser, XP_006723101.1:p.Gly94Ser, XP_011524806.1:p.Gly94Ser, XP_011524805.1:p.Gly94Ser, XP_011524810.1:p.Gly23Ser, XP_011524812.1:p.Gly23Ser, XP_011524813.1:p.Gly94Ser, XP_016881827.1:p.Gly23Ser, XP_047294185.1:p.Gly94Ser, XP_047294186.1:p.Gly94Ser, XP_047294187.1:p.Gly23Ser, XP_047294188.1:p.Gly94Ser

          5.

          rs1481477690 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            19:37127895 (GRCh38)
            19:37618797 (GRCh37)
            Canonical SPDI:
            NC_000019.10:37127894:A:G
            Gene:
            ZNF420 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            HGVS:
            NC_000019.10:g.37127895A>G, NC_000019.9:g.37618797A>G, NG_051212.1:g.125081A>G, NM_144689.5:c.904A>G, NM_144689.4:c.904A>G, NM_144689.3:c.904A>G, NM_001329515.3:c.904A>G, NM_001329515.2:c.904A>G, NM_001329515.1:c.904A>G, NM_001329521.3:c.691A>G, NM_001329521.2:c.691A>G, NM_001329521.1:c.691A>G, NM_001329516.3:c.904A>G, NM_001329516.2:c.904A>G, NM_001329516.1:c.904A>G, NM_001329522.3:c.904A>G, NM_001329522.2:c.904A>G, NM_001329522.1:c.904A>G, NM_001329524.3:c.691A>G, NM_001329524.2:c.691A>G, NM_001329524.1:c.691A>G, NM_001329517.1:c.691A>G, NM_001329519.1:c.691A>G, NM_001329518.1:c.691A>G, NM_001329520.1:c.691A>G, XM_011526507.4:c.691A>G, XM_011526507.3:c.691A>G, XM_011526507.2:c.691A>G, XM_011526507.1:c.691A>G, XM_006723038.4:c.904A>G, XM_006723038.3:c.904A>G, XM_006723038.2:c.904A>G, XM_006723038.1:c.904A>G, XM_011526504.3:c.904A>G, XM_011526504.2:c.904A>G, XM_011526504.1:c.904A>G, XM_011526503.3:c.904A>G, XM_011526503.2:c.904A>G, XM_011526503.1:c.904A>G, XM_011526508.3:c.691A>G, XM_011526508.2:c.691A>G, XM_011526508.1:c.691A>G, XM_011526510.3:c.691A>G, XM_011526510.2:c.691A>G, XM_011526510.1:c.691A>G, XM_011526511.3:c.904A>G, XM_011526511.2:c.904A>G, XM_011526511.1:c.904A>G, XM_017026338.2:c.691A>G, XM_017026338.1:c.691A>G, XM_047438229.1:c.904A>G, XM_047438230.1:c.904A>G, XM_047438231.1:c.691A>G, XM_047438232.1:c.904A>G, NP_653290.2:p.Thr302Ala, NP_001316444.1:p.Thr302Ala, NP_001316450.1:p.Thr231Ala, NP_001316445.1:p.Thr302Ala, NP_001316451.1:p.Thr302Ala, NP_001316453.1:p.Thr231Ala, NP_001316446.1:p.Thr231Ala, NP_001316448.1:p.Thr231Ala, NP_001316447.1:p.Thr231Ala, NP_001316449.1:p.Thr231Ala, XP_011524809.1:p.Thr231Ala, XP_006723101.1:p.Thr302Ala, XP_011524806.1:p.Thr302Ala, XP_011524805.1:p.Thr302Ala, XP_011524810.1:p.Thr231Ala, XP_011524812.1:p.Thr231Ala, XP_011524813.1:p.Thr302Ala, XP_016881827.1:p.Thr231Ala, XP_047294185.1:p.Thr302Ala, XP_047294186.1:p.Thr302Ala, XP_047294187.1:p.Thr231Ala, XP_047294188.1:p.Thr302Ala

            6.

            rs1479207290 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              19:37130161 (GRCh38)
              19:37621063 (GRCh37)
              Canonical SPDI:
              NC_000019.10:37130160:T:C
              Gene:
              ZNF420 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0./0 (GnomAD)
              C=0.000004/1 (TOPMED)
              C=0.000014/2 (GnomAD_exomes)
              HGVS:
              NC_000019.10:g.37130161T>C, NC_000019.9:g.37621063T>C, NG_051212.1:g.127347T>C, NM_144689.5:c.*1103T>C, NM_144689.4:c.*1103T>C, NM_001329515.3:c.2040T>C, NM_001329515.2:c.2040T>C, NM_001329515.1:c.2040T>C, NM_001329521.3:c.1720T>C, NM_001329521.2:c.1720T>C, NM_001329521.1:c.1720T>C, NM_001329516.3:c.1933T>C, NM_001329516.2:c.1933T>C, NM_001329516.1:c.1933T>C, NM_001329522.3:c.1536T>C, NM_001329522.2:c.1536T>C, NM_001329522.1:c.1536T>C, NM_001329524.3:c.1216T>C, NM_001329524.2:c.1216T>C, NM_001329524.1:c.1216T>C, NM_001329517.1:c.*1103T>C, NM_001329519.1:c.*1103T>C, NM_001329518.1:c.*1103T>C, NM_001329520.1:c.*1103T>C, XM_011526507.4:c.*1103T>C, XM_011526507.3:c.*1103T>C, XM_011526507.2:c.*1103T>C, XM_011526507.1:c.*1103T>C, XM_006723038.4:c.1933T>C, XM_006723038.3:c.1933T>C, XM_006723038.2:c.1933T>C, XM_006723038.1:c.1933T>C, XM_011526504.3:c.*1103T>C, XM_011526504.2:c.*1103T>C, XM_011526504.1:c.*1103T>C, XM_011526503.3:c.*1103T>C, XM_011526503.2:c.*1103T>C, XM_011526503.1:c.*1103T>C, XM_011526508.3:c.*1103T>C, XM_011526508.2:c.*1103T>C, XM_011526508.1:c.*1103T>C, XM_011526510.3:c.*1103T>C, XM_011526510.2:c.*1103T>C, XM_011526510.1:c.*1103T>C, XM_011526511.3:c.1429T>C, XM_011526511.2:c.1429T>C, XM_011526511.1:c.1429T>C, XM_017026338.2:c.*1103T>C, XM_017026338.1:c.*1103T>C, XM_047438229.1:c.*1103T>C, XM_047438230.1:c.*1103T>C, XM_047438231.1:c.1720T>C, XM_047438232.1:c.1429T>C, NP_001316450.1:p.Ser574Pro, NP_001316445.1:p.Ser645Pro, NP_001316453.1:p.Ser406Pro, XP_006723101.1:p.Ser645Pro, XP_011524813.1:p.Ser477Pro, XP_047294187.1:p.Ser574Pro, XP_047294188.1:p.Ser477Pro

              7.

              rs1477570365 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:37127929 (GRCh38)
                19:37618831 (GRCh37)
                Canonical SPDI:
                NC_000019.10:37127928:G:A
                Gene:
                ZNF420 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.37127929G>A, NC_000019.9:g.37618831G>A, NG_051212.1:g.125115G>A, NM_144689.5:c.938G>A, NM_144689.4:c.938G>A, NM_144689.3:c.938G>A, NM_001329515.3:c.938G>A, NM_001329515.2:c.938G>A, NM_001329515.1:c.938G>A, NM_001329521.3:c.725G>A, NM_001329521.2:c.725G>A, NM_001329521.1:c.725G>A, NM_001329516.3:c.938G>A, NM_001329516.2:c.938G>A, NM_001329516.1:c.938G>A, NM_001329522.3:c.938G>A, NM_001329522.2:c.938G>A, NM_001329522.1:c.938G>A, NM_001329524.3:c.725G>A, NM_001329524.2:c.725G>A, NM_001329524.1:c.725G>A, NM_001329517.1:c.725G>A, NM_001329519.1:c.725G>A, NM_001329518.1:c.725G>A, NM_001329520.1:c.725G>A, XM_011526507.4:c.725G>A, XM_011526507.3:c.725G>A, XM_011526507.2:c.725G>A, XM_011526507.1:c.725G>A, XM_006723038.4:c.938G>A, XM_006723038.3:c.938G>A, XM_006723038.2:c.938G>A, XM_006723038.1:c.938G>A, XM_011526504.3:c.938G>A, XM_011526504.2:c.938G>A, XM_011526504.1:c.938G>A, XM_011526503.3:c.938G>A, XM_011526503.2:c.938G>A, XM_011526503.1:c.938G>A, XM_011526508.3:c.725G>A, XM_011526508.2:c.725G>A, XM_011526508.1:c.725G>A, XM_011526510.3:c.725G>A, XM_011526510.2:c.725G>A, XM_011526510.1:c.725G>A, XM_011526511.3:c.938G>A, XM_011526511.2:c.938G>A, XM_011526511.1:c.938G>A, XM_017026338.2:c.725G>A, XM_017026338.1:c.725G>A, XM_047438229.1:c.938G>A, XM_047438230.1:c.938G>A, XM_047438231.1:c.725G>A, XM_047438232.1:c.938G>A, NP_653290.2:p.Gly313Glu, NP_001316444.1:p.Gly313Glu, NP_001316450.1:p.Gly242Glu, NP_001316445.1:p.Gly313Glu, NP_001316451.1:p.Gly313Glu, NP_001316453.1:p.Gly242Glu, NP_001316446.1:p.Gly242Glu, NP_001316448.1:p.Gly242Glu, NP_001316447.1:p.Gly242Glu, NP_001316449.1:p.Gly242Glu, XP_011524809.1:p.Gly242Glu, XP_006723101.1:p.Gly313Glu, XP_011524806.1:p.Gly313Glu, XP_011524805.1:p.Gly313Glu, XP_011524810.1:p.Gly242Glu, XP_011524812.1:p.Gly242Glu, XP_011524813.1:p.Gly313Glu, XP_016881827.1:p.Gly242Glu, XP_047294185.1:p.Gly313Glu, XP_047294186.1:p.Gly313Glu, XP_047294187.1:p.Gly242Glu, XP_047294188.1:p.Gly313Glu

                8.

                rs1477264074 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  19:37128186 (GRCh38)
                  19:37619088 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:37128185:A:C
                  Gene:
                  ZNF420 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  C=0.000021/3 (GnomAD)
                  HGVS:
                  NC_000019.10:g.37128186A>C, NC_000019.9:g.37619088A>C, NG_051212.1:g.125372A>C, NM_144689.5:c.1195A>C, NM_144689.4:c.1195A>C, NM_144689.3:c.1195A>C, NM_001329515.3:c.1195A>C, NM_001329515.2:c.1195A>C, NM_001329515.1:c.1195A>C, NM_001329521.3:c.982A>C, NM_001329521.2:c.982A>C, NM_001329521.1:c.982A>C, NM_001329516.3:c.1195A>C, NM_001329516.2:c.1195A>C, NM_001329516.1:c.1195A>C, NM_001329522.3:c.1195A>C, NM_001329522.2:c.1195A>C, NM_001329522.1:c.1195A>C, NM_001329524.3:c.982A>C, NM_001329524.2:c.982A>C, NM_001329524.1:c.982A>C, NM_001329517.1:c.982A>C, NM_001329519.1:c.982A>C, NM_001329518.1:c.982A>C, NM_001329520.1:c.982A>C, XM_011526507.4:c.982A>C, XM_011526507.3:c.982A>C, XM_011526507.2:c.982A>C, XM_011526507.1:c.982A>C, XM_006723038.4:c.1195A>C, XM_006723038.3:c.1195A>C, XM_006723038.2:c.1195A>C, XM_006723038.1:c.1195A>C, XM_011526504.3:c.1195A>C, XM_011526504.2:c.1195A>C, XM_011526504.1:c.1195A>C, XM_011526503.3:c.1195A>C, XM_011526503.2:c.1195A>C, XM_011526503.1:c.1195A>C, XM_011526508.3:c.982A>C, XM_011526508.2:c.982A>C, XM_011526508.1:c.982A>C, XM_011526510.3:c.982A>C, XM_011526510.2:c.982A>C, XM_011526510.1:c.982A>C, XM_011526511.3:c.1195A>C, XM_011526511.2:c.1195A>C, XM_011526511.1:c.1195A>C, XM_017026338.2:c.982A>C, XM_017026338.1:c.982A>C, XM_047438229.1:c.1195A>C, XM_047438230.1:c.1195A>C, XM_047438231.1:c.982A>C, XM_047438232.1:c.1195A>C, NP_653290.2:p.Met399Leu, NP_001316444.1:p.Met399Leu, NP_001316450.1:p.Met328Leu, NP_001316445.1:p.Met399Leu, NP_001316451.1:p.Met399Leu, NP_001316453.1:p.Met328Leu, NP_001316446.1:p.Met328Leu, NP_001316448.1:p.Met328Leu, NP_001316447.1:p.Met328Leu, NP_001316449.1:p.Met328Leu, XP_011524809.1:p.Met328Leu, XP_006723101.1:p.Met399Leu, XP_011524806.1:p.Met399Leu, XP_011524805.1:p.Met399Leu, XP_011524810.1:p.Met328Leu, XP_011524812.1:p.Met328Leu, XP_011524813.1:p.Met399Leu, XP_016881827.1:p.Met328Leu, XP_047294185.1:p.Met399Leu, XP_047294186.1:p.Met399Leu, XP_047294187.1:p.Met328Leu, XP_047294188.1:p.Met399Leu

                  9.

                  rs1475914809 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:37128583 (GRCh38)
                    19:37619485 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:37128582:A:G
                    Gene:
                    ZNF420 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000019.10:g.37128583A>G, NC_000019.9:g.37619485A>G, NG_051212.1:g.125769A>G, NM_144689.5:c.1592A>G, NM_144689.4:c.1592A>G, NM_144689.3:c.1592A>G, NM_001329515.3:c.1592A>G, NM_001329515.2:c.1592A>G, NM_001329515.1:c.1592A>G, NM_001329521.3:c.1379A>G, NM_001329521.2:c.1379A>G, NM_001329521.1:c.1379A>G, NM_001329516.3:c.1592A>G, NM_001329516.2:c.1592A>G, NM_001329516.1:c.1592A>G, NM_001329517.1:c.1379A>G, NM_001329519.1:c.1379A>G, NM_001329518.1:c.1379A>G, NM_001329520.1:c.1379A>G, XM_011526507.4:c.1379A>G, XM_011526507.3:c.1379A>G, XM_011526507.2:c.1379A>G, XM_011526507.1:c.1379A>G, XM_006723038.4:c.1592A>G, XM_006723038.3:c.1592A>G, XM_006723038.2:c.1592A>G, XM_006723038.1:c.1592A>G, XM_011526504.3:c.1592A>G, XM_011526504.2:c.1592A>G, XM_011526504.1:c.1592A>G, XM_011526503.3:c.1592A>G, XM_011526503.2:c.1592A>G, XM_011526503.1:c.1592A>G, XM_011526508.3:c.1379A>G, XM_011526508.2:c.1379A>G, XM_011526508.1:c.1379A>G, XM_011526510.3:c.1379A>G, XM_011526510.2:c.1379A>G, XM_011526510.1:c.1379A>G, XM_017026338.2:c.1379A>G, XM_017026338.1:c.1379A>G, XM_047438229.1:c.1592A>G, XM_047438230.1:c.1592A>G, XM_047438231.1:c.1379A>G, NP_653290.2:p.Tyr531Cys, NP_001316444.1:p.Tyr531Cys, NP_001316450.1:p.Tyr460Cys, NP_001316445.1:p.Tyr531Cys, NP_001316446.1:p.Tyr460Cys, NP_001316448.1:p.Tyr460Cys, NP_001316447.1:p.Tyr460Cys, NP_001316449.1:p.Tyr460Cys, XP_011524809.1:p.Tyr460Cys, XP_006723101.1:p.Tyr531Cys, XP_011524806.1:p.Tyr531Cys, XP_011524805.1:p.Tyr531Cys, XP_011524810.1:p.Tyr460Cys, XP_011524812.1:p.Tyr460Cys, XP_016881827.1:p.Tyr460Cys, XP_047294185.1:p.Tyr531Cys, XP_047294186.1:p.Tyr531Cys, XP_047294187.1:p.Tyr460Cys

                    10.

                    rs1473495839 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->ACT [Show Flanks]
                      Chromosome:
                      19:37127391 (GRCh38)
                      19:37618294 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:37127391:CTACT:CTACTACT
                      Gene:
                      ZNF420 (Varview)
                      Functional Consequence:
                      inframe_insertion,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CTACTACT=0./0 (ALFA)
                      CTA=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000019.10:g.37127394_37127396dup, NC_000019.9:g.37618296_37618298dup, NG_051212.1:g.124580_124582dup, NM_144689.5:c.403_405dup, NM_144689.4:c.403_405dup, NM_144689.3:c.403_405dup, NM_001329515.3:c.403_405dup, NM_001329515.2:c.403_405dup, NM_001329515.1:c.403_405dup, NM_001329521.3:c.190_192dup, NM_001329521.2:c.190_192dup, NM_001329521.1:c.190_192dup, NM_001329516.3:c.403_405dup, NM_001329516.2:c.403_405dup, NM_001329516.1:c.403_405dup, NM_001329522.3:c.403_405dup, NM_001329522.2:c.403_405dup, NM_001329522.1:c.403_405dup, NM_001329524.3:c.190_192dup, NM_001329524.2:c.190_192dup, NM_001329524.1:c.190_192dup, NM_001329517.1:c.190_192dup, NM_001329519.1:c.190_192dup, NM_001329518.1:c.190_192dup, NM_001329520.1:c.190_192dup, XM_011526507.4:c.190_192dup, XM_011526507.3:c.190_192dup, XM_011526507.2:c.190_192dup, XM_011526507.1:c.190_192dup, XM_006723038.4:c.403_405dup, XM_006723038.3:c.403_405dup, XM_006723038.2:c.403_405dup, XM_006723038.1:c.403_405dup, XM_011526504.3:c.403_405dup, XM_011526504.2:c.403_405dup, XM_011526504.1:c.403_405dup, XM_011526503.3:c.403_405dup, XM_011526503.2:c.403_405dup, XM_011526503.1:c.403_405dup, XM_011526508.3:c.190_192dup, XM_011526508.2:c.190_192dup, XM_011526508.1:c.190_192dup, XM_011526510.3:c.190_192dup, XM_011526510.2:c.190_192dup, XM_011526510.1:c.190_192dup, XM_011526511.3:c.403_405dup, XM_011526511.2:c.403_405dup, XM_011526511.1:c.403_405dup, XM_017026338.2:c.190_192dup, XM_017026338.1:c.190_192dup, XM_047438229.1:c.403_405dup, XM_047438230.1:c.403_405dup, XM_047438231.1:c.190_192dup, XM_047438232.1:c.403_405dup, NP_653290.2:p.Thr135dup, NP_001316444.1:p.Thr135dup, NP_001316450.1:p.Thr64dup, NP_001316445.1:p.Thr135dup, NP_001316451.1:p.Thr135dup, NP_001316453.1:p.Thr64dup, NP_001316446.1:p.Thr64dup, NP_001316448.1:p.Thr64dup, NP_001316447.1:p.Thr64dup, NP_001316449.1:p.Thr64dup, XP_011524809.1:p.Thr64dup, XP_006723101.1:p.Thr135dup, XP_011524806.1:p.Thr135dup, XP_011524805.1:p.Thr135dup, XP_011524810.1:p.Thr64dup, XP_011524812.1:p.Thr64dup, XP_011524813.1:p.Thr135dup, XP_016881827.1:p.Thr64dup, XP_047294185.1:p.Thr135dup, XP_047294186.1:p.Thr135dup, XP_047294187.1:p.Thr64dup, XP_047294188.1:p.Thr135dup

                      11.

                      rs1472433963 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        19:37128545 (GRCh38)
                        19:37619447 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:37128544:T:C
                        Gene:
                        ZNF420 (Varview)
                        Functional Consequence:
                        synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_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_000019.10:g.37128545T>C, NC_000019.9:g.37619447T>C, NG_051212.1:g.125731T>C, NM_144689.5:c.1554T>C, NM_144689.4:c.1554T>C, NM_144689.3:c.1554T>C, NM_001329515.3:c.1554T>C, NM_001329515.2:c.1554T>C, NM_001329515.1:c.1554T>C, NM_001329521.3:c.1341T>C, NM_001329521.2:c.1341T>C, NM_001329521.1:c.1341T>C, NM_001329516.3:c.1554T>C, NM_001329516.2:c.1554T>C, NM_001329516.1:c.1554T>C, NM_001329517.1:c.1341T>C, NM_001329519.1:c.1341T>C, NM_001329518.1:c.1341T>C, NM_001329520.1:c.1341T>C, XM_011526507.4:c.1341T>C, XM_011526507.3:c.1341T>C, XM_011526507.2:c.1341T>C, XM_011526507.1:c.1341T>C, XM_006723038.4:c.1554T>C, XM_006723038.3:c.1554T>C, XM_006723038.2:c.1554T>C, XM_006723038.1:c.1554T>C, XM_011526504.3:c.1554T>C, XM_011526504.2:c.1554T>C, XM_011526504.1:c.1554T>C, XM_011526503.3:c.1554T>C, XM_011526503.2:c.1554T>C, XM_011526503.1:c.1554T>C, XM_011526508.3:c.1341T>C, XM_011526508.2:c.1341T>C, XM_011526508.1:c.1341T>C, XM_011526510.3:c.1341T>C, XM_011526510.2:c.1341T>C, XM_011526510.1:c.1341T>C, XM_017026338.2:c.1341T>C, XM_017026338.1:c.1341T>C, XM_047438229.1:c.1554T>C, XM_047438230.1:c.1554T>C, XM_047438231.1:c.1341T>C

                        12.

                        rs1472279204 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          19:37127546 (GRCh38)
                          19:37618448 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:37127545:T:C
                          Gene:
                          ZNF420 (Varview)
                          Functional Consequence:
                          synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000107/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.37127546T>C, NC_000019.9:g.37618448T>C, NG_051212.1:g.124732T>C, NM_144689.5:c.555T>C, NM_144689.4:c.555T>C, NM_144689.3:c.555T>C, NM_001329515.3:c.555T>C, NM_001329515.2:c.555T>C, NM_001329515.1:c.555T>C, NM_001329521.3:c.342T>C, NM_001329521.2:c.342T>C, NM_001329521.1:c.342T>C, NM_001329516.3:c.555T>C, NM_001329516.2:c.555T>C, NM_001329516.1:c.555T>C, NM_001329522.3:c.555T>C, NM_001329522.2:c.555T>C, NM_001329522.1:c.555T>C, NM_001329524.3:c.342T>C, NM_001329524.2:c.342T>C, NM_001329524.1:c.342T>C, NM_001329517.1:c.342T>C, NM_001329519.1:c.342T>C, NM_001329518.1:c.342T>C, NM_001329520.1:c.342T>C, XM_011526507.4:c.342T>C, XM_011526507.3:c.342T>C, XM_011526507.2:c.342T>C, XM_011526507.1:c.342T>C, XM_006723038.4:c.555T>C, XM_006723038.3:c.555T>C, XM_006723038.2:c.555T>C, XM_006723038.1:c.555T>C, XM_011526504.3:c.555T>C, XM_011526504.2:c.555T>C, XM_011526504.1:c.555T>C, XM_011526503.3:c.555T>C, XM_011526503.2:c.555T>C, XM_011526503.1:c.555T>C, XM_011526508.3:c.342T>C, XM_011526508.2:c.342T>C, XM_011526508.1:c.342T>C, XM_011526510.3:c.342T>C, XM_011526510.2:c.342T>C, XM_011526510.1:c.342T>C, XM_011526511.3:c.555T>C, XM_011526511.2:c.555T>C, XM_011526511.1:c.555T>C, XM_017026338.2:c.342T>C, XM_017026338.1:c.342T>C, XM_047438229.1:c.555T>C, XM_047438230.1:c.555T>C, XM_047438231.1:c.342T>C, XM_047438232.1:c.555T>C

                          13.

                          rs1470754221 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:37128316 (GRCh38)
                            19:37619218 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:37128315:C:T
                            Gene:
                            ZNF420 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000019.10:g.37128316C>T, NC_000019.9:g.37619218C>T, NG_051212.1:g.125502C>T, NM_144689.5:c.1325C>T, NM_144689.4:c.1325C>T, NM_144689.3:c.1325C>T, NM_001329515.3:c.1325C>T, NM_001329515.2:c.1325C>T, NM_001329515.1:c.1325C>T, NM_001329521.3:c.1112C>T, NM_001329521.2:c.1112C>T, NM_001329521.1:c.1112C>T, NM_001329516.3:c.1325C>T, NM_001329516.2:c.1325C>T, NM_001329516.1:c.1325C>T, NM_001329522.3:c.1325C>T, NM_001329522.2:c.1325C>T, NM_001329522.1:c.1325C>T, NM_001329524.3:c.1112C>T, NM_001329524.2:c.1112C>T, NM_001329524.1:c.1112C>T, NM_001329517.1:c.1112C>T, NM_001329519.1:c.1112C>T, NM_001329518.1:c.1112C>T, NM_001329520.1:c.1112C>T, XM_011526507.4:c.1112C>T, XM_011526507.3:c.1112C>T, XM_011526507.2:c.1112C>T, XM_011526507.1:c.1112C>T, XM_006723038.4:c.1325C>T, XM_006723038.3:c.1325C>T, XM_006723038.2:c.1325C>T, XM_006723038.1:c.1325C>T, XM_011526504.3:c.1325C>T, XM_011526504.2:c.1325C>T, XM_011526504.1:c.1325C>T, XM_011526503.3:c.1325C>T, XM_011526503.2:c.1325C>T, XM_011526503.1:c.1325C>T, XM_011526508.3:c.1112C>T, XM_011526508.2:c.1112C>T, XM_011526508.1:c.1112C>T, XM_011526510.3:c.1112C>T, XM_011526510.2:c.1112C>T, XM_011526510.1:c.1112C>T, XM_011526511.3:c.1325C>T, XM_011526511.2:c.1325C>T, XM_011526511.1:c.1325C>T, XM_017026338.2:c.1112C>T, XM_017026338.1:c.1112C>T, XM_047438229.1:c.1325C>T, XM_047438230.1:c.1325C>T, XM_047438231.1:c.1112C>T, XM_047438232.1:c.1325C>T, NP_653290.2:p.Thr442Ile, NP_001316444.1:p.Thr442Ile, NP_001316450.1:p.Thr371Ile, NP_001316445.1:p.Thr442Ile, NP_001316451.1:p.Thr442Ile, NP_001316453.1:p.Thr371Ile, NP_001316446.1:p.Thr371Ile, NP_001316448.1:p.Thr371Ile, NP_001316447.1:p.Thr371Ile, NP_001316449.1:p.Thr371Ile, XP_011524809.1:p.Thr371Ile, XP_006723101.1:p.Thr442Ile, XP_011524806.1:p.Thr442Ile, XP_011524805.1:p.Thr442Ile, XP_011524810.1:p.Thr371Ile, XP_011524812.1:p.Thr371Ile, XP_011524813.1:p.Thr442Ile, XP_016881827.1:p.Thr371Ile, XP_047294185.1:p.Thr442Ile, XP_047294186.1:p.Thr442Ile, XP_047294187.1:p.Thr371Ile, XP_047294188.1:p.Thr442Ile

                            14.

                            rs1470265892 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:37128098 (GRCh38)
                              19:37619000 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:37128097:G:A
                              Gene:
                              ZNF420 (Varview)
                              Functional Consequence:
                              synonymous_variant,genic_downstream_transcript_variant,coding_sequence_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_000019.10:g.37128098G>A, NC_000019.9:g.37619000G>A, NG_051212.1:g.125284G>A, NM_144689.5:c.1107G>A, NM_144689.4:c.1107G>A, NM_144689.3:c.1107G>A, NM_001329515.3:c.1107G>A, NM_001329515.2:c.1107G>A, NM_001329515.1:c.1107G>A, NM_001329521.3:c.894G>A, NM_001329521.2:c.894G>A, NM_001329521.1:c.894G>A, NM_001329516.3:c.1107G>A, NM_001329516.2:c.1107G>A, NM_001329516.1:c.1107G>A, NM_001329522.3:c.1107G>A, NM_001329522.2:c.1107G>A, NM_001329522.1:c.1107G>A, NM_001329524.3:c.894G>A, NM_001329524.2:c.894G>A, NM_001329524.1:c.894G>A, NM_001329517.1:c.894G>A, NM_001329519.1:c.894G>A, NM_001329518.1:c.894G>A, NM_001329520.1:c.894G>A, XM_011526507.4:c.894G>A, XM_011526507.3:c.894G>A, XM_011526507.2:c.894G>A, XM_011526507.1:c.894G>A, XM_006723038.4:c.1107G>A, XM_006723038.3:c.1107G>A, XM_006723038.2:c.1107G>A, XM_006723038.1:c.1107G>A, XM_011526504.3:c.1107G>A, XM_011526504.2:c.1107G>A, XM_011526504.1:c.1107G>A, XM_011526503.3:c.1107G>A, XM_011526503.2:c.1107G>A, XM_011526503.1:c.1107G>A, XM_011526508.3:c.894G>A, XM_011526508.2:c.894G>A, XM_011526508.1:c.894G>A, XM_011526510.3:c.894G>A, XM_011526510.2:c.894G>A, XM_011526510.1:c.894G>A, XM_011526511.3:c.1107G>A, XM_011526511.2:c.1107G>A, XM_011526511.1:c.1107G>A, XM_017026338.2:c.894G>A, XM_017026338.1:c.894G>A, XM_047438229.1:c.1107G>A, XM_047438230.1:c.1107G>A, XM_047438231.1:c.894G>A, XM_047438232.1:c.1107G>A

                              15.

                              rs1470163284 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:37127581 (GRCh38)
                                19:37618483 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:37127580:G:A
                                Gene:
                                ZNF420 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                HGVS:
                                NC_000019.10:g.37127581G>A, NC_000019.9:g.37618483G>A, NG_051212.1:g.124767G>A, NM_144689.5:c.590G>A, NM_144689.4:c.590G>A, NM_144689.3:c.590G>A, NM_001329515.3:c.590G>A, NM_001329515.2:c.590G>A, NM_001329515.1:c.590G>A, NM_001329521.3:c.377G>A, NM_001329521.2:c.377G>A, NM_001329521.1:c.377G>A, NM_001329516.3:c.590G>A, NM_001329516.2:c.590G>A, NM_001329516.1:c.590G>A, NM_001329522.3:c.590G>A, NM_001329522.2:c.590G>A, NM_001329522.1:c.590G>A, NM_001329524.3:c.377G>A, NM_001329524.2:c.377G>A, NM_001329524.1:c.377G>A, NM_001329517.1:c.377G>A, NM_001329519.1:c.377G>A, NM_001329518.1:c.377G>A, NM_001329520.1:c.377G>A, XM_011526507.4:c.377G>A, XM_011526507.3:c.377G>A, XM_011526507.2:c.377G>A, XM_011526507.1:c.377G>A, XM_006723038.4:c.590G>A, XM_006723038.3:c.590G>A, XM_006723038.2:c.590G>A, XM_006723038.1:c.590G>A, XM_011526504.3:c.590G>A, XM_011526504.2:c.590G>A, XM_011526504.1:c.590G>A, XM_011526503.3:c.590G>A, XM_011526503.2:c.590G>A, XM_011526503.1:c.590G>A, XM_011526508.3:c.377G>A, XM_011526508.2:c.377G>A, XM_011526508.1:c.377G>A, XM_011526510.3:c.377G>A, XM_011526510.2:c.377G>A, XM_011526510.1:c.377G>A, XM_011526511.3:c.590G>A, XM_011526511.2:c.590G>A, XM_011526511.1:c.590G>A, XM_017026338.2:c.377G>A, XM_017026338.1:c.377G>A, XM_047438229.1:c.590G>A, XM_047438230.1:c.590G>A, XM_047438231.1:c.377G>A, XM_047438232.1:c.590G>A, NP_653290.2:p.Cys197Tyr, NP_001316444.1:p.Cys197Tyr, NP_001316450.1:p.Cys126Tyr, NP_001316445.1:p.Cys197Tyr, NP_001316451.1:p.Cys197Tyr, NP_001316453.1:p.Cys126Tyr, NP_001316446.1:p.Cys126Tyr, NP_001316448.1:p.Cys126Tyr, NP_001316447.1:p.Cys126Tyr, NP_001316449.1:p.Cys126Tyr, XP_011524809.1:p.Cys126Tyr, XP_006723101.1:p.Cys197Tyr, XP_011524806.1:p.Cys197Tyr, XP_011524805.1:p.Cys197Tyr, XP_011524810.1:p.Cys126Tyr, XP_011524812.1:p.Cys126Tyr, XP_011524813.1:p.Cys197Tyr, XP_016881827.1:p.Cys126Tyr, XP_047294185.1:p.Cys197Tyr, XP_047294186.1:p.Cys197Tyr, XP_047294187.1:p.Cys126Tyr, XP_047294188.1:p.Cys197Tyr

                                16.

                                rs1469218046 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  19:37128811 (GRCh38)
                                  19:37619713 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:37128810:G:
                                  Gene:
                                  ZNF420 (Varview)
                                  Functional Consequence:
                                  frameshift_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  HGVS:
                                  NC_000019.10:g.37128811del, NC_000019.9:g.37619713del, NG_051212.1:g.125997del, NM_144689.5:c.1820del, NM_144689.4:c.1820del, NM_144689.3:c.1820del, NM_001329515.3:c.1820del, NM_001329515.2:c.1820del, NM_001329515.1:c.1820del, NM_001329521.3:c.1607del, NM_001329521.2:c.1607del, NM_001329521.1:c.1607del, NM_001329516.3:c.1820del, NM_001329516.2:c.1820del, NM_001329516.1:c.1820del, NM_001329517.1:c.1607del, NM_001329519.1:c.1607del, NM_001329518.1:c.1607del, NM_001329520.1:c.1607del, XM_011526507.4:c.1607del, XM_011526507.3:c.1607del, XM_011526507.2:c.1607del, XM_011526507.1:c.1607del, XM_006723038.4:c.1820del, XM_006723038.3:c.1820del, XM_006723038.2:c.1820del, XM_006723038.1:c.1820del, XM_011526504.3:c.1820del, XM_011526504.2:c.1820del, XM_011526504.1:c.1820del, XM_011526503.3:c.1820del, XM_011526503.2:c.1820del, XM_011526503.1:c.1820del, XM_011526508.3:c.1607del, XM_011526508.2:c.1607del, XM_011526508.1:c.1607del, XM_011526510.3:c.1607del, XM_011526510.2:c.1607del, XM_011526510.1:c.1607del, XM_017026338.2:c.1607del, XM_017026338.1:c.1607del, XM_047438229.1:c.1820del, XM_047438230.1:c.1820del, XM_047438231.1:c.1607del, NP_653290.2:p.Arg607fs, NP_001316444.1:p.Arg607fs, NP_001316450.1:p.Arg536fs, NP_001316445.1:p.Arg607fs, NP_001316446.1:p.Arg536fs, NP_001316448.1:p.Arg536fs, NP_001316447.1:p.Arg536fs, NP_001316449.1:p.Arg536fs, XP_011524809.1:p.Arg536fs, XP_006723101.1:p.Arg607fs, XP_011524806.1:p.Arg607fs, XP_011524805.1:p.Arg607fs, XP_011524810.1:p.Arg536fs, XP_011524812.1:p.Arg536fs, XP_016881827.1:p.Arg536fs, XP_047294185.1:p.Arg607fs, XP_047294186.1:p.Arg607fs, XP_047294187.1:p.Arg536fs

                                  17.

                                  rs1461969744 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CTCA>- [Show Flanks]
                                    Chromosome:
                                    19:37128211 (GRCh38)
                                    19:37619113 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:37128209:ACTCA:A
                                    Gene:
                                    ZNF420 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    -=0.000015/4 (TOPMED)
                                    HGVS:
                                    NC_000019.10:g.37128211_37128214del, NC_000019.9:g.37619113_37619116del, NG_051212.1:g.125397_125400del, NM_144689.5:c.1220_1223del, NM_144689.4:c.1220_1223del, NM_144689.3:c.1220_1223del, NM_001329515.3:c.1220_1223del, NM_001329515.2:c.1220_1223del, NM_001329515.1:c.1220_1223del, NM_001329521.3:c.1007_1010del, NM_001329521.2:c.1007_1010del, NM_001329521.1:c.1007_1010del, NM_001329516.3:c.1220_1223del, NM_001329516.2:c.1220_1223del, NM_001329516.1:c.1220_1223del, NM_001329522.3:c.1220_1223del, NM_001329522.2:c.1220_1223del, NM_001329522.1:c.1220_1223del, NM_001329524.3:c.1007_1010del, NM_001329524.2:c.1007_1010del, NM_001329524.1:c.1007_1010del, NM_001329517.1:c.1007_1010del, NM_001329519.1:c.1007_1010del, NM_001329518.1:c.1007_1010del, NM_001329520.1:c.1007_1010del, XM_011526507.4:c.1007_1010del, XM_011526507.3:c.1007_1010del, XM_011526507.2:c.1007_1010del, XM_011526507.1:c.1007_1010del, XM_006723038.4:c.1220_1223del, XM_006723038.3:c.1220_1223del, XM_006723038.2:c.1220_1223del, XM_006723038.1:c.1220_1223del, XM_011526504.3:c.1220_1223del, XM_011526504.2:c.1220_1223del, XM_011526504.1:c.1220_1223del, XM_011526503.3:c.1220_1223del, XM_011526503.2:c.1220_1223del, XM_011526503.1:c.1220_1223del, XM_011526508.3:c.1007_1010del, XM_011526508.2:c.1007_1010del, XM_011526508.1:c.1007_1010del, XM_011526510.3:c.1007_1010del, XM_011526510.2:c.1007_1010del, XM_011526510.1:c.1007_1010del, XM_011526511.3:c.1220_1223del, XM_011526511.2:c.1220_1223del, XM_011526511.1:c.1220_1223del, XM_017026338.2:c.1007_1010del, XM_017026338.1:c.1007_1010del, XM_047438229.1:c.1220_1223del, XM_047438230.1:c.1220_1223del, XM_047438231.1:c.1007_1010del, XM_047438232.1:c.1220_1223del, NP_653290.2:p.Thr407fs, NP_001316444.1:p.Thr407fs, NP_001316450.1:p.Thr336fs, NP_001316445.1:p.Thr407fs, NP_001316451.1:p.Thr407fs, NP_001316453.1:p.Thr336fs, NP_001316446.1:p.Thr336fs, NP_001316448.1:p.Thr336fs, NP_001316447.1:p.Thr336fs, NP_001316449.1:p.Thr336fs, XP_011524809.1:p.Thr336fs, XP_006723101.1:p.Thr407fs, XP_011524806.1:p.Thr407fs, XP_011524805.1:p.Thr407fs, XP_011524810.1:p.Thr336fs, XP_011524812.1:p.Thr336fs, XP_011524813.1:p.Thr407fs, XP_016881827.1:p.Thr336fs, XP_047294185.1:p.Thr407fs, XP_047294186.1:p.Thr407fs, XP_047294187.1:p.Thr336fs, XP_047294188.1:p.Thr407fs

                                    18.

                                    rs1460619886 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:37128720 (GRCh38)
                                      19:37619622 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:37128719:C:T
                                      Gene:
                                      ZNF420 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000019.10:g.37128720C>T, NC_000019.9:g.37619622C>T, NG_051212.1:g.125906C>T, NM_144689.5:c.1729C>T, NM_144689.4:c.1729C>T, NM_144689.3:c.1729C>T, NM_001329515.3:c.1729C>T, NM_001329515.2:c.1729C>T, NM_001329515.1:c.1729C>T, NM_001329521.3:c.1516C>T, NM_001329521.2:c.1516C>T, NM_001329521.1:c.1516C>T, NM_001329516.3:c.1729C>T, NM_001329516.2:c.1729C>T, NM_001329516.1:c.1729C>T, NM_001329517.1:c.1516C>T, NM_001329519.1:c.1516C>T, NM_001329518.1:c.1516C>T, NM_001329520.1:c.1516C>T, XM_011526507.4:c.1516C>T, XM_011526507.3:c.1516C>T, XM_011526507.2:c.1516C>T, XM_011526507.1:c.1516C>T, XM_006723038.4:c.1729C>T, XM_006723038.3:c.1729C>T, XM_006723038.2:c.1729C>T, XM_006723038.1:c.1729C>T, XM_011526504.3:c.1729C>T, XM_011526504.2:c.1729C>T, XM_011526504.1:c.1729C>T, XM_011526503.3:c.1729C>T, XM_011526503.2:c.1729C>T, XM_011526503.1:c.1729C>T, XM_011526508.3:c.1516C>T, XM_011526508.2:c.1516C>T, XM_011526508.1:c.1516C>T, XM_011526510.3:c.1516C>T, XM_011526510.2:c.1516C>T, XM_011526510.1:c.1516C>T, XM_017026338.2:c.1516C>T, XM_017026338.1:c.1516C>T, XM_047438229.1:c.1729C>T, XM_047438230.1:c.1729C>T, XM_047438231.1:c.1516C>T, NP_653290.2:p.His577Tyr, NP_001316444.1:p.His577Tyr, NP_001316450.1:p.His506Tyr, NP_001316445.1:p.His577Tyr, NP_001316446.1:p.His506Tyr, NP_001316448.1:p.His506Tyr, NP_001316447.1:p.His506Tyr, NP_001316449.1:p.His506Tyr, XP_011524809.1:p.His506Tyr, XP_006723101.1:p.His577Tyr, XP_011524806.1:p.His577Tyr, XP_011524805.1:p.His577Tyr, XP_011524810.1:p.His506Tyr, XP_011524812.1:p.His506Tyr, XP_016881827.1:p.His506Tyr, XP_047294185.1:p.His577Tyr, XP_047294186.1:p.His577Tyr, XP_047294187.1:p.His506Tyr

                                      19.

                                      rs1454869602 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CTCA>- [Show Flanks]
                                        Chromosome:
                                        19:37128127 (GRCh38)
                                        19:37619029 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:37128125:ACTCA:A
                                        Gene:
                                        ZNF420 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        -=0.000008/2 (TOPMED)
                                        -=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000019.10:g.37128127_37128130del, NC_000019.9:g.37619029_37619032del, NG_051212.1:g.125313_125316del, NM_144689.5:c.1136_1139del, NM_144689.4:c.1136_1139del, NM_144689.3:c.1136_1139del, NM_001329515.3:c.1136_1139del, NM_001329515.2:c.1136_1139del, NM_001329515.1:c.1136_1139del, NM_001329521.3:c.923_926del, NM_001329521.2:c.923_926del, NM_001329521.1:c.923_926del, NM_001329516.3:c.1136_1139del, NM_001329516.2:c.1136_1139del, NM_001329516.1:c.1136_1139del, NM_001329522.3:c.1136_1139del, NM_001329522.2:c.1136_1139del, NM_001329522.1:c.1136_1139del, NM_001329524.3:c.923_926del, NM_001329524.2:c.923_926del, NM_001329524.1:c.923_926del, NM_001329517.1:c.923_926del, NM_001329519.1:c.923_926del, NM_001329518.1:c.923_926del, NM_001329520.1:c.923_926del, XM_011526507.4:c.923_926del, XM_011526507.3:c.923_926del, XM_011526507.2:c.923_926del, XM_011526507.1:c.923_926del, XM_006723038.4:c.1136_1139del, XM_006723038.3:c.1136_1139del, XM_006723038.2:c.1136_1139del, XM_006723038.1:c.1136_1139del, XM_011526504.3:c.1136_1139del, XM_011526504.2:c.1136_1139del, XM_011526504.1:c.1136_1139del, XM_011526503.3:c.1136_1139del, XM_011526503.2:c.1136_1139del, XM_011526503.1:c.1136_1139del, XM_011526508.3:c.923_926del, XM_011526508.2:c.923_926del, XM_011526508.1:c.923_926del, XM_011526510.3:c.923_926del, XM_011526510.2:c.923_926del, XM_011526510.1:c.923_926del, XM_011526511.3:c.1136_1139del, XM_011526511.2:c.1136_1139del, XM_011526511.1:c.1136_1139del, XM_017026338.2:c.923_926del, XM_017026338.1:c.923_926del, XM_047438229.1:c.1136_1139del, XM_047438230.1:c.1136_1139del, XM_047438231.1:c.923_926del, XM_047438232.1:c.1136_1139del, NP_653290.2:p.Thr379fs, NP_001316444.1:p.Thr379fs, NP_001316450.1:p.Thr308fs, NP_001316445.1:p.Thr379fs, NP_001316451.1:p.Thr379fs, NP_001316453.1:p.Thr308fs, NP_001316446.1:p.Thr308fs, NP_001316448.1:p.Thr308fs, NP_001316447.1:p.Thr308fs, NP_001316449.1:p.Thr308fs, XP_011524809.1:p.Thr308fs, XP_006723101.1:p.Thr379fs, XP_011524806.1:p.Thr379fs, XP_011524805.1:p.Thr379fs, XP_011524810.1:p.Thr308fs, XP_011524812.1:p.Thr308fs, XP_011524813.1:p.Thr379fs, XP_016881827.1:p.Thr308fs, XP_047294185.1:p.Thr379fs, XP_047294186.1:p.Thr379fs, XP_047294187.1:p.Thr308fs, XP_047294188.1:p.Thr379fs

                                        20.

                                        rs1452606795 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          19:37127993 (GRCh38)
                                          19:37618895 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:37127992:A:G
                                          Gene:
                                          ZNF420 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000019.10:g.37127993A>G, NC_000019.9:g.37618895A>G, NG_051212.1:g.125179A>G, NM_144689.5:c.1002A>G, NM_144689.4:c.1002A>G, NM_144689.3:c.1002A>G, NM_001329515.3:c.1002A>G, NM_001329515.2:c.1002A>G, NM_001329515.1:c.1002A>G, NM_001329521.3:c.789A>G, NM_001329521.2:c.789A>G, NM_001329521.1:c.789A>G, NM_001329516.3:c.1002A>G, NM_001329516.2:c.1002A>G, NM_001329516.1:c.1002A>G, NM_001329522.3:c.1002A>G, NM_001329522.2:c.1002A>G, NM_001329522.1:c.1002A>G, NM_001329524.3:c.789A>G, NM_001329524.2:c.789A>G, NM_001329524.1:c.789A>G, NM_001329517.1:c.789A>G, NM_001329519.1:c.789A>G, NM_001329518.1:c.789A>G, NM_001329520.1:c.789A>G, XM_011526507.4:c.789A>G, XM_011526507.3:c.789A>G, XM_011526507.2:c.789A>G, XM_011526507.1:c.789A>G, XM_006723038.4:c.1002A>G, XM_006723038.3:c.1002A>G, XM_006723038.2:c.1002A>G, XM_006723038.1:c.1002A>G, XM_011526504.3:c.1002A>G, XM_011526504.2:c.1002A>G, XM_011526504.1:c.1002A>G, XM_011526503.3:c.1002A>G, XM_011526503.2:c.1002A>G, XM_011526503.1:c.1002A>G, XM_011526508.3:c.789A>G, XM_011526508.2:c.789A>G, XM_011526508.1:c.789A>G, XM_011526510.3:c.789A>G, XM_011526510.2:c.789A>G, XM_011526510.1:c.789A>G, XM_011526511.3:c.1002A>G, XM_011526511.2:c.1002A>G, XM_011526511.1:c.1002A>G, XM_017026338.2:c.789A>G, XM_017026338.1:c.789A>G, XM_047438229.1:c.1002A>G, XM_047438230.1:c.1002A>G, XM_047438231.1:c.789A>G, XM_047438232.1:c.1002A>G

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...