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Items: 1 to 20 of 796

1.

rs1490482008 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:57927431 (GRCh38)
    19:58438799 (GRCh37)
    Canonical SPDI:
    NC_000019.10:57927430:T:C
    Gene:
    ZNF418 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.57927431T>C, NC_000019.9:g.58438799T>C, XM_017026304.3:c.813A>G, XM_017026304.2:c.813A>G, XM_017026304.1:c.813A>G, XM_017026305.3:c.813A>G, XM_017026305.2:c.813A>G, XM_017026305.1:c.813A>G, NM_133460.3:c.750A>G, NM_133460.2:c.750A>G, NM_133460.1:c.750A>G, XM_017026314.3:c.651A>G, XM_017026314.2:c.651A>G, XM_017026314.1:c.651A>G, XM_017026308.3:c.780A>G, XM_017026308.2:c.780A>G, XM_017026308.1:c.780A>G, XM_017026313.2:c.750A>G, XM_017026313.1:c.750A>G, NM_001317027.2:c.813A>G, NM_001317027.1:c.813A>G, XM_017026310.2:c.753A>G, XM_017026310.1:c.753A>G, NM_001317028.2:c.753A>G, NM_001317028.1:c.753A>G, NM_001317029.2:c.750A>G, NM_001317029.1:c.750A>G, XM_017026311.2:c.753A>G, XM_017026311.1:c.753A>G, NM_001317030.2:c.495A>G, NM_001317030.1:c.495A>G, XM_047438217.1:c.750A>G, XM_047438199.1:c.810A>G, XM_047438195.1:c.813A>G, XM_047438196.1:c.813A>G, XM_047438197.1:c.813A>G, XM_047438218.1:c.813A>G, XM_047438198.1:c.813A>G, XM_047438208.1:c.753A>G, XM_047438209.1:c.753A>G, XM_047438211.1:c.750A>G, XM_047438210.1:c.750A>G, XM_047438212.1:c.750A>G, XM_047438201.1:c.777A>G, XM_047438204.1:c.753A>G, XM_047438203.1:c.753A>G, XM_047438219.1:c.651A>G, XM_047438206.1:c.753A>G, XM_047438214.1:c.750A>G, XM_047438215.1:c.750A>G, XM_047438202.1:c.777A>G, XM_047438221.1:c.651A>G, XM_047438220.1:c.651A>G, XM_047438205.1:c.753A>G, XM_047438216.1:c.750A>G, XM_047438207.1:c.753A>G, XM_047438200.1:c.780A>G

    2.

    rs1490152944 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      19:57926711 (GRCh38)
      19:58438079 (GRCh37)
      Canonical SPDI:
      NC_000019.10:57926710:T:C
      Gene:
      ZNF418 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000019.10:g.57926711T>C, NC_000019.9:g.58438079T>C, XM_017026304.3:c.1533A>G, XM_017026304.2:c.1533A>G, XM_017026304.1:c.1533A>G, XM_017026305.3:c.1533A>G, XM_017026305.2:c.1533A>G, XM_017026305.1:c.1533A>G, NM_133460.3:c.1470A>G, NM_133460.2:c.1470A>G, NM_133460.1:c.1470A>G, XM_017026314.3:c.1371A>G, XM_017026314.2:c.1371A>G, XM_017026314.1:c.1371A>G, XM_017026308.3:c.1500A>G, XM_017026308.2:c.1500A>G, XM_017026308.1:c.1500A>G, XM_017026313.2:c.1470A>G, XM_017026313.1:c.1470A>G, NM_001317027.2:c.1533A>G, NM_001317027.1:c.1533A>G, XM_017026310.2:c.1473A>G, XM_017026310.1:c.1473A>G, NM_001317028.2:c.1473A>G, NM_001317028.1:c.1473A>G, NM_001317029.2:c.1470A>G, NM_001317029.1:c.1470A>G, XM_017026311.2:c.1473A>G, XM_017026311.1:c.1473A>G, NM_001317030.2:c.1215A>G, NM_001317030.1:c.1215A>G, XM_047438217.1:c.1470A>G, XM_047438199.1:c.1530A>G, XM_047438195.1:c.1533A>G, XM_047438196.1:c.1533A>G, XM_047438197.1:c.1533A>G, XM_047438218.1:c.1449A>G, XM_047438198.1:c.1533A>G, XM_047438208.1:c.1473A>G, XM_047438209.1:c.1473A>G, XM_047438211.1:c.1470A>G, XM_047438210.1:c.1470A>G, XM_047438212.1:c.1470A>G, XM_047438201.1:c.1497A>G, XM_047438204.1:c.1473A>G, XM_047438203.1:c.1473A>G, XM_047438219.1:c.1371A>G, XM_047438206.1:c.1473A>G, XM_047438214.1:c.1470A>G, XM_047438215.1:c.1470A>G, XM_047438202.1:c.1497A>G, XM_047438221.1:c.1371A>G, XM_047438220.1:c.1371A>G, XM_047438205.1:c.1473A>G, XM_047438216.1:c.1470A>G, XM_047438207.1:c.1473A>G, XM_047438200.1:c.1500A>G

      3.

      rs1489991068 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        19:57927007 (GRCh38)
        19:58438375 (GRCh37)
        Canonical SPDI:
        NC_000019.10:57927006:G:T
        Gene:
        ZNF418 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000019.10:g.57927007G>T, NC_000019.9:g.58438375G>T, XM_017026304.3:c.1237C>A, XM_017026304.2:c.1237C>A, XM_017026304.1:c.1237C>A, XM_017026305.3:c.1237C>A, XM_017026305.2:c.1237C>A, XM_017026305.1:c.1237C>A, NM_133460.3:c.1174C>A, NM_133460.2:c.1174C>A, NM_133460.1:c.1174C>A, XM_017026314.3:c.1075C>A, XM_017026314.2:c.1075C>A, XM_017026314.1:c.1075C>A, XM_017026308.3:c.1204C>A, XM_017026308.2:c.1204C>A, XM_017026308.1:c.1204C>A, XM_017026313.2:c.1174C>A, XM_017026313.1:c.1174C>A, NM_001317027.2:c.1237C>A, NM_001317027.1:c.1237C>A, XM_017026310.2:c.1177C>A, XM_017026310.1:c.1177C>A, NM_001317028.2:c.1177C>A, NM_001317028.1:c.1177C>A, NM_001317029.2:c.1174C>A, NM_001317029.1:c.1174C>A, XM_017026311.2:c.1177C>A, XM_017026311.1:c.1177C>A, NM_001317030.2:c.919C>A, NM_001317030.1:c.919C>A, XM_047438217.1:c.1174C>A, XM_047438199.1:c.1234C>A, XM_047438195.1:c.1237C>A, XM_047438196.1:c.1237C>A, XM_047438197.1:c.1237C>A, XM_047438218.1:c.1153C>A, XM_047438198.1:c.1237C>A, XM_047438208.1:c.1177C>A, XM_047438209.1:c.1177C>A, XM_047438211.1:c.1174C>A, XM_047438210.1:c.1174C>A, XM_047438212.1:c.1174C>A, XM_047438201.1:c.1201C>A, XM_047438204.1:c.1177C>A, XM_047438203.1:c.1177C>A, XM_047438219.1:c.1075C>A, XM_047438206.1:c.1177C>A, XM_047438214.1:c.1174C>A, XM_047438215.1:c.1174C>A, XM_047438202.1:c.1201C>A, XM_047438221.1:c.1075C>A, XM_047438220.1:c.1075C>A, XM_047438205.1:c.1177C>A, XM_047438216.1:c.1174C>A, XM_047438207.1:c.1177C>A, XM_047438200.1:c.1204C>A, XP_016881793.1:p.His413Asn, XP_016881794.1:p.His413Asn, NP_597717.1:p.His392Asn, XP_016881803.1:p.His359Asn, XP_016881797.1:p.His402Asn, XP_016881802.1:p.His392Asn, NP_001303956.1:p.His413Asn, XP_016881799.1:p.His393Asn, NP_001303957.1:p.His393Asn, NP_001303958.1:p.His392Asn, XP_016881800.1:p.His393Asn, NP_001303959.1:p.His307Asn, XP_047294173.1:p.His392Asn, XP_047294155.1:p.His412Asn, XP_047294151.1:p.His413Asn, XP_047294152.1:p.His413Asn, XP_047294153.1:p.His413Asn, XP_047294174.1:p.His385Asn, XP_047294154.1:p.His413Asn, XP_047294164.1:p.His393Asn, XP_047294165.1:p.His393Asn, XP_047294167.1:p.His392Asn, XP_047294166.1:p.His392Asn, XP_047294168.1:p.His392Asn, XP_047294157.1:p.His401Asn, XP_047294160.1:p.His393Asn, XP_047294159.1:p.His393Asn, XP_047294175.1:p.His359Asn, XP_047294162.1:p.His393Asn, XP_047294170.1:p.His392Asn, XP_047294171.1:p.His392Asn, XP_047294158.1:p.His401Asn, XP_047294177.1:p.His359Asn, XP_047294176.1:p.His359Asn, XP_047294161.1:p.His393Asn, XP_047294172.1:p.His392Asn, XP_047294163.1:p.His393Asn, XP_047294156.1:p.His402Asn

        4.

        rs1487930211 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:57930447 (GRCh38)
          19:58441815 (GRCh37)
          Canonical SPDI:
          NC_000019.10:57930446:C:T
          Gene:
          ZNF418 (Varview)
          Functional Consequence:
          stop_gained,intron_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          NC_000019.10:g.57930447C>T, NC_000019.9:g.58441815C>T, XM_017026304.3:c.177G>A, XM_017026304.2:c.177G>A, XM_017026304.1:c.177G>A, XM_017026305.3:c.177G>A, XM_017026305.2:c.177G>A, XM_017026305.1:c.177G>A, NM_133460.3:c.114G>A, NM_133460.2:c.114G>A, NM_133460.1:c.114G>A, XM_017026314.3:c.15G>A, XM_017026314.2:c.15G>A, XM_017026314.1:c.15G>A, XM_017026308.3:c.144G>A, XM_017026308.2:c.144G>A, XM_017026308.1:c.144G>A, XM_017026313.2:c.114G>A, XM_017026313.1:c.114G>A, NM_001317027.2:c.177G>A, NM_001317027.1:c.177G>A, XM_017026310.2:c.117G>A, XM_017026310.1:c.117G>A, NM_001317028.2:c.117G>A, NM_001317028.1:c.117G>A, NM_001317029.2:c.114G>A, NM_001317029.1:c.114G>A, XM_017026311.2:c.117G>A, XM_017026311.1:c.117G>A, XM_047438217.1:c.114G>A, XM_047438199.1:c.174G>A, XM_047438195.1:c.177G>A, XM_047438196.1:c.177G>A, XM_047438197.1:c.177G>A, XM_047438218.1:c.177G>A, XM_047438198.1:c.177G>A, XM_047438208.1:c.117G>A, XM_047438209.1:c.117G>A, XM_047438211.1:c.114G>A, XM_047438210.1:c.114G>A, XM_047438212.1:c.114G>A, XM_047438201.1:c.141G>A, XM_047438204.1:c.117G>A, XM_047438203.1:c.117G>A, XM_047438219.1:c.15G>A, XM_047438206.1:c.117G>A, XM_047438214.1:c.114G>A, XM_047438215.1:c.114G>A, XM_047438202.1:c.141G>A, XM_047438221.1:c.15G>A, XM_047438220.1:c.15G>A, XM_047438205.1:c.117G>A, XM_047438216.1:c.114G>A, XM_047438207.1:c.117G>A, XM_047438200.1:c.144G>A, XP_016881793.1:p.Trp59Ter, XP_016881794.1:p.Trp59Ter, NP_597717.1:p.Trp38Ter, XP_016881803.1:p.Trp5Ter, XP_016881797.1:p.Trp48Ter, XP_016881802.1:p.Trp38Ter, NP_001303956.1:p.Trp59Ter, XP_016881799.1:p.Trp39Ter, NP_001303957.1:p.Trp39Ter, NP_001303958.1:p.Trp38Ter, XP_016881800.1:p.Trp39Ter, XP_047294173.1:p.Trp38Ter, XP_047294155.1:p.Trp58Ter, XP_047294151.1:p.Trp59Ter, XP_047294152.1:p.Trp59Ter, XP_047294153.1:p.Trp59Ter, XP_047294174.1:p.Trp59Ter, XP_047294154.1:p.Trp59Ter, XP_047294164.1:p.Trp39Ter, XP_047294165.1:p.Trp39Ter, XP_047294167.1:p.Trp38Ter, XP_047294166.1:p.Trp38Ter, XP_047294168.1:p.Trp38Ter, XP_047294157.1:p.Trp47Ter, XP_047294160.1:p.Trp39Ter, XP_047294159.1:p.Trp39Ter, XP_047294175.1:p.Trp5Ter, XP_047294162.1:p.Trp39Ter, XP_047294170.1:p.Trp38Ter, XP_047294171.1:p.Trp38Ter, XP_047294158.1:p.Trp47Ter, XP_047294177.1:p.Trp5Ter, XP_047294176.1:p.Trp5Ter, XP_047294161.1:p.Trp39Ter, XP_047294172.1:p.Trp38Ter, XP_047294163.1:p.Trp39Ter, XP_047294156.1:p.Trp48Ter

          5.

          rs1484295539 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            19:57926452 (GRCh38)
            19:58437820 (GRCh37)
            Canonical SPDI:
            NC_000019.10:57926451:T:C
            Gene:
            ZNF418 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000019.10:g.57926452T>C, NC_000019.9:g.58437820T>C, XM_017026304.3:c.1792A>G, XM_017026304.2:c.1792A>G, XM_017026304.1:c.1792A>G, XM_017026305.3:c.1792A>G, XM_017026305.2:c.1792A>G, XM_017026305.1:c.1792A>G, NM_133460.3:c.1729A>G, NM_133460.2:c.1729A>G, NM_133460.1:c.1729A>G, XM_017026314.3:c.1630A>G, XM_017026314.2:c.1630A>G, XM_017026314.1:c.1630A>G, XM_017026308.3:c.1759A>G, XM_017026308.2:c.1759A>G, XM_017026308.1:c.1759A>G, XM_017026313.2:c.1729A>G, XM_017026313.1:c.1729A>G, NM_001317027.2:c.1792A>G, NM_001317027.1:c.1792A>G, XM_017026310.2:c.1732A>G, XM_017026310.1:c.1732A>G, NM_001317028.2:c.1732A>G, NM_001317028.1:c.1732A>G, NM_001317029.2:c.1729A>G, NM_001317029.1:c.1729A>G, XM_017026311.2:c.1732A>G, XM_017026311.1:c.1732A>G, NM_001317030.2:c.1474A>G, NM_001317030.1:c.1474A>G, XM_047438217.1:c.1729A>G, XM_047438199.1:c.1789A>G, XM_047438195.1:c.1792A>G, XM_047438196.1:c.1792A>G, XM_047438197.1:c.1792A>G, XM_047438218.1:c.1708A>G, XM_047438198.1:c.1792A>G, XM_047438208.1:c.1732A>G, XM_047438209.1:c.1732A>G, XM_047438211.1:c.1729A>G, XM_047438210.1:c.1729A>G, XM_047438212.1:c.1729A>G, XM_047438201.1:c.1756A>G, XM_047438204.1:c.1732A>G, XM_047438203.1:c.1732A>G, XM_047438219.1:c.1630A>G, XM_047438206.1:c.1732A>G, XM_047438214.1:c.1729A>G, XM_047438215.1:c.1729A>G, XM_047438202.1:c.1756A>G, XM_047438221.1:c.1630A>G, XM_047438220.1:c.1630A>G, XM_047438205.1:c.1732A>G, XM_047438216.1:c.1729A>G, XM_047438207.1:c.1732A>G, XM_047438200.1:c.1759A>G, XP_016881793.1:p.Ser598Gly, XP_016881794.1:p.Ser598Gly, NP_597717.1:p.Ser577Gly, XP_016881803.1:p.Ser544Gly, XP_016881797.1:p.Ser587Gly, XP_016881802.1:p.Ser577Gly, NP_001303956.1:p.Ser598Gly, XP_016881799.1:p.Ser578Gly, NP_001303957.1:p.Ser578Gly, NP_001303958.1:p.Ser577Gly, XP_016881800.1:p.Ser578Gly, NP_001303959.1:p.Ser492Gly, XP_047294173.1:p.Ser577Gly, XP_047294155.1:p.Ser597Gly, XP_047294151.1:p.Ser598Gly, XP_047294152.1:p.Ser598Gly, XP_047294153.1:p.Ser598Gly, XP_047294174.1:p.Ser570Gly, XP_047294154.1:p.Ser598Gly, XP_047294164.1:p.Ser578Gly, XP_047294165.1:p.Ser578Gly, XP_047294167.1:p.Ser577Gly, XP_047294166.1:p.Ser577Gly, XP_047294168.1:p.Ser577Gly, XP_047294157.1:p.Ser586Gly, XP_047294160.1:p.Ser578Gly, XP_047294159.1:p.Ser578Gly, XP_047294175.1:p.Ser544Gly, XP_047294162.1:p.Ser578Gly, XP_047294170.1:p.Ser577Gly, XP_047294171.1:p.Ser577Gly, XP_047294158.1:p.Ser586Gly, XP_047294177.1:p.Ser544Gly, XP_047294176.1:p.Ser544Gly, XP_047294161.1:p.Ser578Gly, XP_047294172.1:p.Ser577Gly, XP_047294163.1:p.Ser578Gly, XP_047294156.1:p.Ser587Gly

            6.

            rs1483860922 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              19:57928014 (GRCh38)
              19:58439382 (GRCh37)
              Canonical SPDI:
              NC_000019.10:57928013:G:A
              Gene:
              ZNF418 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000019.10:g.57928014G>A, NC_000019.9:g.58439382G>A, XM_017026304.3:c.230C>T, XM_017026304.2:c.230C>T, XM_017026304.1:c.230C>T, XM_017026305.3:c.230C>T, XM_017026305.2:c.230C>T, XM_017026305.1:c.230C>T, NM_133460.3:c.167C>T, NM_133460.2:c.167C>T, NM_133460.1:c.167C>T, XM_017026314.3:c.68C>T, XM_017026314.2:c.68C>T, XM_017026314.1:c.68C>T, XM_017026308.3:c.197C>T, XM_017026308.2:c.197C>T, XM_017026308.1:c.197C>T, XM_017026313.2:c.167C>T, XM_017026313.1:c.167C>T, NM_001317027.2:c.230C>T, NM_001317027.1:c.230C>T, XM_017026310.2:c.170C>T, XM_017026310.1:c.170C>T, NM_001317028.2:c.170C>T, NM_001317028.1:c.170C>T, NM_001317029.2:c.167C>T, NM_001317029.1:c.167C>T, XM_017026311.2:c.170C>T, XM_017026311.1:c.170C>T, NM_001317030.2:c.-89C>T, NM_001317030.1:c.-89C>T, XM_047438217.1:c.167C>T, XM_047438199.1:c.227C>T, XM_047438195.1:c.230C>T, XM_047438196.1:c.230C>T, XM_047438197.1:c.230C>T, XM_047438218.1:c.230C>T, XM_047438198.1:c.230C>T, XM_047438208.1:c.170C>T, XM_047438209.1:c.170C>T, XM_047438211.1:c.167C>T, XM_047438210.1:c.167C>T, XM_047438212.1:c.167C>T, XM_047438201.1:c.194C>T, XM_047438204.1:c.170C>T, XM_047438203.1:c.170C>T, XM_047438219.1:c.68C>T, XM_047438206.1:c.170C>T, XM_047438214.1:c.167C>T, XM_047438215.1:c.167C>T, XM_047438202.1:c.194C>T, XM_047438221.1:c.68C>T, XM_047438220.1:c.68C>T, XM_047438205.1:c.170C>T, XM_047438216.1:c.167C>T, XM_047438207.1:c.170C>T, XM_047438200.1:c.197C>T, XP_016881793.1:p.Pro77Leu, XP_016881794.1:p.Pro77Leu, NP_597717.1:p.Pro56Leu, XP_016881803.1:p.Pro23Leu, XP_016881797.1:p.Pro66Leu, XP_016881802.1:p.Pro56Leu, NP_001303956.1:p.Pro77Leu, XP_016881799.1:p.Pro57Leu, NP_001303957.1:p.Pro57Leu, NP_001303958.1:p.Pro56Leu, XP_016881800.1:p.Pro57Leu, XP_047294173.1:p.Pro56Leu, XP_047294155.1:p.Pro76Leu, XP_047294151.1:p.Pro77Leu, XP_047294152.1:p.Pro77Leu, XP_047294153.1:p.Pro77Leu, XP_047294174.1:p.Pro77Leu, XP_047294154.1:p.Pro77Leu, XP_047294164.1:p.Pro57Leu, XP_047294165.1:p.Pro57Leu, XP_047294167.1:p.Pro56Leu, XP_047294166.1:p.Pro56Leu, XP_047294168.1:p.Pro56Leu, XP_047294157.1:p.Pro65Leu, XP_047294160.1:p.Pro57Leu, XP_047294159.1:p.Pro57Leu, XP_047294175.1:p.Pro23Leu, XP_047294162.1:p.Pro57Leu, XP_047294170.1:p.Pro56Leu, XP_047294171.1:p.Pro56Leu, XP_047294158.1:p.Pro65Leu, XP_047294177.1:p.Pro23Leu, XP_047294176.1:p.Pro23Leu, XP_047294161.1:p.Pro57Leu, XP_047294172.1:p.Pro56Leu, XP_047294163.1:p.Pro57Leu, XP_047294156.1:p.Pro66Leu

              7.

              rs1483782429 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                19:57926532 (GRCh38)
                19:58437900 (GRCh37)
                Canonical SPDI:
                NC_000019.10:57926531:C:A,NC_000019.10:57926531:C:T
                Gene:
                ZNF418 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.57926532C>A, NC_000019.10:g.57926532C>T, NC_000019.9:g.58437900C>A, NC_000019.9:g.58437900C>T, XM_017026304.3:c.1712G>T, XM_017026304.3:c.1712G>A, XM_017026304.2:c.1712G>T, XM_017026304.2:c.1712G>A, XM_017026304.1:c.1712G>T, XM_017026304.1:c.1712G>A, XM_017026305.3:c.1712G>T, XM_017026305.3:c.1712G>A, XM_017026305.2:c.1712G>T, XM_017026305.2:c.1712G>A, XM_017026305.1:c.1712G>T, XM_017026305.1:c.1712G>A, NM_133460.3:c.1649G>T, NM_133460.3:c.1649G>A, NM_133460.2:c.1649G>T, NM_133460.2:c.1649G>A, NM_133460.1:c.1649G>T, NM_133460.1:c.1649G>A, XM_017026314.3:c.1550G>T, XM_017026314.3:c.1550G>A, XM_017026314.2:c.1550G>T, XM_017026314.2:c.1550G>A, XM_017026314.1:c.1550G>T, XM_017026314.1:c.1550G>A, XM_017026308.3:c.1679G>T, XM_017026308.3:c.1679G>A, XM_017026308.2:c.1679G>T, XM_017026308.2:c.1679G>A, XM_017026308.1:c.1679G>T, XM_017026308.1:c.1679G>A, XM_017026313.2:c.1649G>T, XM_017026313.2:c.1649G>A, XM_017026313.1:c.1649G>T, XM_017026313.1:c.1649G>A, NM_001317027.2:c.1712G>T, NM_001317027.2:c.1712G>A, NM_001317027.1:c.1712G>T, NM_001317027.1:c.1712G>A, XM_017026310.2:c.1652G>T, XM_017026310.2:c.1652G>A, XM_017026310.1:c.1652G>T, XM_017026310.1:c.1652G>A, NM_001317028.2:c.1652G>T, NM_001317028.2:c.1652G>A, NM_001317028.1:c.1652G>T, NM_001317028.1:c.1652G>A, NM_001317029.2:c.1649G>T, NM_001317029.2:c.1649G>A, NM_001317029.1:c.1649G>T, NM_001317029.1:c.1649G>A, XM_017026311.2:c.1652G>T, XM_017026311.2:c.1652G>A, XM_017026311.1:c.1652G>T, XM_017026311.1:c.1652G>A, NM_001317030.2:c.1394G>T, NM_001317030.2:c.1394G>A, NM_001317030.1:c.1394G>T, NM_001317030.1:c.1394G>A, XM_047438217.1:c.1649G>T, XM_047438217.1:c.1649G>A, XM_047438199.1:c.1709G>T, XM_047438199.1:c.1709G>A, XM_047438195.1:c.1712G>T, XM_047438195.1:c.1712G>A, XM_047438196.1:c.1712G>T, XM_047438196.1:c.1712G>A, XM_047438197.1:c.1712G>T, XM_047438197.1:c.1712G>A, XM_047438218.1:c.1628G>T, XM_047438218.1:c.1628G>A, XM_047438198.1:c.1712G>T, XM_047438198.1:c.1712G>A, XM_047438208.1:c.1652G>T, XM_047438208.1:c.1652G>A, XM_047438209.1:c.1652G>T, XM_047438209.1:c.1652G>A, XM_047438211.1:c.1649G>T, XM_047438211.1:c.1649G>A, XM_047438210.1:c.1649G>T, XM_047438210.1:c.1649G>A, XM_047438212.1:c.1649G>T, XM_047438212.1:c.1649G>A, XM_047438201.1:c.1676G>T, XM_047438201.1:c.1676G>A, XM_047438204.1:c.1652G>T, XM_047438204.1:c.1652G>A, XM_047438203.1:c.1652G>T, XM_047438203.1:c.1652G>A, XM_047438219.1:c.1550G>T, XM_047438219.1:c.1550G>A, XM_047438206.1:c.1652G>T, XM_047438206.1:c.1652G>A, XM_047438214.1:c.1649G>T, XM_047438214.1:c.1649G>A, XM_047438215.1:c.1649G>T, XM_047438215.1:c.1649G>A, XM_047438202.1:c.1676G>T, XM_047438202.1:c.1676G>A, XM_047438221.1:c.1550G>T, XM_047438221.1:c.1550G>A, XM_047438220.1:c.1550G>T, XM_047438220.1:c.1550G>A, XM_047438205.1:c.1652G>T, XM_047438205.1:c.1652G>A, XM_047438216.1:c.1649G>T, XM_047438216.1:c.1649G>A, XM_047438207.1:c.1652G>T, XM_047438207.1:c.1652G>A, XM_047438200.1:c.1679G>T, XM_047438200.1:c.1679G>A, XP_016881793.1:p.Ser571Ile, XP_016881793.1:p.Ser571Asn, XP_016881794.1:p.Ser571Ile, XP_016881794.1:p.Ser571Asn, NP_597717.1:p.Ser550Ile, NP_597717.1:p.Ser550Asn, XP_016881803.1:p.Ser517Ile, XP_016881803.1:p.Ser517Asn, XP_016881797.1:p.Ser560Ile, XP_016881797.1:p.Ser560Asn, XP_016881802.1:p.Ser550Ile, XP_016881802.1:p.Ser550Asn, NP_001303956.1:p.Ser571Ile, NP_001303956.1:p.Ser571Asn, XP_016881799.1:p.Ser551Ile, XP_016881799.1:p.Ser551Asn, NP_001303957.1:p.Ser551Ile, NP_001303957.1:p.Ser551Asn, NP_001303958.1:p.Ser550Ile, NP_001303958.1:p.Ser550Asn, XP_016881800.1:p.Ser551Ile, XP_016881800.1:p.Ser551Asn, NP_001303959.1:p.Ser465Ile, NP_001303959.1:p.Ser465Asn, XP_047294173.1:p.Ser550Ile, XP_047294173.1:p.Ser550Asn, XP_047294155.1:p.Ser570Ile, XP_047294155.1:p.Ser570Asn, XP_047294151.1:p.Ser571Ile, XP_047294151.1:p.Ser571Asn, XP_047294152.1:p.Ser571Ile, XP_047294152.1:p.Ser571Asn, XP_047294153.1:p.Ser571Ile, XP_047294153.1:p.Ser571Asn, XP_047294174.1:p.Ser543Ile, XP_047294174.1:p.Ser543Asn, XP_047294154.1:p.Ser571Ile, XP_047294154.1:p.Ser571Asn, XP_047294164.1:p.Ser551Ile, XP_047294164.1:p.Ser551Asn, XP_047294165.1:p.Ser551Ile, XP_047294165.1:p.Ser551Asn, XP_047294167.1:p.Ser550Ile, XP_047294167.1:p.Ser550Asn, XP_047294166.1:p.Ser550Ile, XP_047294166.1:p.Ser550Asn, XP_047294168.1:p.Ser550Ile, XP_047294168.1:p.Ser550Asn, XP_047294157.1:p.Ser559Ile, XP_047294157.1:p.Ser559Asn, XP_047294160.1:p.Ser551Ile, XP_047294160.1:p.Ser551Asn, XP_047294159.1:p.Ser551Ile, XP_047294159.1:p.Ser551Asn, XP_047294175.1:p.Ser517Ile, XP_047294175.1:p.Ser517Asn, XP_047294162.1:p.Ser551Ile, XP_047294162.1:p.Ser551Asn, XP_047294170.1:p.Ser550Ile, XP_047294170.1:p.Ser550Asn, XP_047294171.1:p.Ser550Ile, XP_047294171.1:p.Ser550Asn, XP_047294158.1:p.Ser559Ile, XP_047294158.1:p.Ser559Asn, XP_047294177.1:p.Ser517Ile, XP_047294177.1:p.Ser517Asn, XP_047294176.1:p.Ser517Ile, XP_047294176.1:p.Ser517Asn, XP_047294161.1:p.Ser551Ile, XP_047294161.1:p.Ser551Asn, XP_047294172.1:p.Ser550Ile, XP_047294172.1:p.Ser550Asn, XP_047294163.1:p.Ser551Ile, XP_047294163.1:p.Ser551Asn, XP_047294156.1:p.Ser560Ile, XP_047294156.1:p.Ser560Asn

                8.

                rs1477850703 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:57927746 (GRCh38)
                  19:58439114 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:57927745:C:T
                  Gene:
                  ZNF418 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000019.10:g.57927746C>T, NC_000019.9:g.58439114C>T, XM_017026304.3:c.498G>A, XM_017026304.2:c.498G>A, XM_017026304.1:c.498G>A, XM_017026305.3:c.498G>A, XM_017026305.2:c.498G>A, XM_017026305.1:c.498G>A, NM_133460.3:c.435G>A, NM_133460.2:c.435G>A, NM_133460.1:c.435G>A, XM_017026314.3:c.336G>A, XM_017026314.2:c.336G>A, XM_017026314.1:c.336G>A, XM_017026308.3:c.465G>A, XM_017026308.2:c.465G>A, XM_017026308.1:c.465G>A, XM_017026313.2:c.435G>A, XM_017026313.1:c.435G>A, NM_001317027.2:c.498G>A, NM_001317027.1:c.498G>A, XM_017026310.2:c.438G>A, XM_017026310.1:c.438G>A, NM_001317028.2:c.438G>A, NM_001317028.1:c.438G>A, NM_001317029.2:c.435G>A, NM_001317029.1:c.435G>A, XM_017026311.2:c.438G>A, XM_017026311.1:c.438G>A, NM_001317030.2:c.180G>A, NM_001317030.1:c.180G>A, XM_047438217.1:c.435G>A, XM_047438199.1:c.495G>A, XM_047438195.1:c.498G>A, XM_047438196.1:c.498G>A, XM_047438197.1:c.498G>A, XM_047438218.1:c.498G>A, XM_047438198.1:c.498G>A, XM_047438208.1:c.438G>A, XM_047438209.1:c.438G>A, XM_047438211.1:c.435G>A, XM_047438210.1:c.435G>A, XM_047438212.1:c.435G>A, XM_047438201.1:c.462G>A, XM_047438204.1:c.438G>A, XM_047438203.1:c.438G>A, XM_047438219.1:c.336G>A, XM_047438206.1:c.438G>A, XM_047438214.1:c.435G>A, XM_047438215.1:c.435G>A, XM_047438202.1:c.462G>A, XM_047438221.1:c.336G>A, XM_047438220.1:c.336G>A, XM_047438205.1:c.438G>A, XM_047438216.1:c.435G>A, XM_047438207.1:c.438G>A, XM_047438200.1:c.465G>A

                  9.

                  rs1477812930 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:57927206 (GRCh38)
                    19:58438574 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:57927205:T:C
                    Gene:
                    ZNF418 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000019.10:g.57927206T>C, NC_000019.9:g.58438574T>C, XM_017026304.3:c.1038A>G, XM_017026304.2:c.1038A>G, XM_017026304.1:c.1038A>G, XM_017026305.3:c.1038A>G, XM_017026305.2:c.1038A>G, XM_017026305.1:c.1038A>G, NM_133460.3:c.975A>G, NM_133460.2:c.975A>G, NM_133460.1:c.975A>G, XM_017026314.3:c.876A>G, XM_017026314.2:c.876A>G, XM_017026314.1:c.876A>G, XM_017026308.3:c.1005A>G, XM_017026308.2:c.1005A>G, XM_017026308.1:c.1005A>G, XM_017026313.2:c.975A>G, XM_017026313.1:c.975A>G, NM_001317027.2:c.1038A>G, NM_001317027.1:c.1038A>G, XM_017026310.2:c.978A>G, XM_017026310.1:c.978A>G, NM_001317028.2:c.978A>G, NM_001317028.1:c.978A>G, NM_001317029.2:c.975A>G, NM_001317029.1:c.975A>G, XM_017026311.2:c.978A>G, XM_017026311.1:c.978A>G, NM_001317030.2:c.720A>G, NM_001317030.1:c.720A>G, XM_047438217.1:c.975A>G, XM_047438199.1:c.1035A>G, XM_047438195.1:c.1038A>G, XM_047438196.1:c.1038A>G, XM_047438197.1:c.1038A>G, XM_047438218.1:c.954A>G, XM_047438198.1:c.1038A>G, XM_047438208.1:c.978A>G, XM_047438209.1:c.978A>G, XM_047438211.1:c.975A>G, XM_047438210.1:c.975A>G, XM_047438212.1:c.975A>G, XM_047438201.1:c.1002A>G, XM_047438204.1:c.978A>G, XM_047438203.1:c.978A>G, XM_047438219.1:c.876A>G, XM_047438206.1:c.978A>G, XM_047438214.1:c.975A>G, XM_047438215.1:c.975A>G, XM_047438202.1:c.1002A>G, XM_047438221.1:c.876A>G, XM_047438220.1:c.876A>G, XM_047438205.1:c.978A>G, XM_047438216.1:c.975A>G, XM_047438207.1:c.978A>G, XM_047438200.1:c.1005A>G

                    10.

                    rs1476004082 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:57927618 (GRCh38)
                      19:58438986 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:57927617:C:T
                      Gene:
                      ZNF418 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000019.10:g.57927618C>T, NC_000019.9:g.58438986C>T, XM_017026304.3:c.626G>A, XM_017026304.2:c.626G>A, XM_017026304.1:c.626G>A, XM_017026305.3:c.626G>A, XM_017026305.2:c.626G>A, XM_017026305.1:c.626G>A, NM_133460.3:c.563G>A, NM_133460.2:c.563G>A, NM_133460.1:c.563G>A, XM_017026314.3:c.464G>A, XM_017026314.2:c.464G>A, XM_017026314.1:c.464G>A, XM_017026308.3:c.593G>A, XM_017026308.2:c.593G>A, XM_017026308.1:c.593G>A, XM_017026313.2:c.563G>A, XM_017026313.1:c.563G>A, NM_001317027.2:c.626G>A, NM_001317027.1:c.626G>A, XM_017026310.2:c.566G>A, XM_017026310.1:c.566G>A, NM_001317028.2:c.566G>A, NM_001317028.1:c.566G>A, NM_001317029.2:c.563G>A, NM_001317029.1:c.563G>A, XM_017026311.2:c.566G>A, XM_017026311.1:c.566G>A, NM_001317030.2:c.308G>A, NM_001317030.1:c.308G>A, XM_047438217.1:c.563G>A, XM_047438199.1:c.623G>A, XM_047438195.1:c.626G>A, XM_047438196.1:c.626G>A, XM_047438197.1:c.626G>A, XM_047438218.1:c.626G>A, XM_047438198.1:c.626G>A, XM_047438208.1:c.566G>A, XM_047438209.1:c.566G>A, XM_047438211.1:c.563G>A, XM_047438210.1:c.563G>A, XM_047438212.1:c.563G>A, XM_047438201.1:c.590G>A, XM_047438204.1:c.566G>A, XM_047438203.1:c.566G>A, XM_047438219.1:c.464G>A, XM_047438206.1:c.566G>A, XM_047438214.1:c.563G>A, XM_047438215.1:c.563G>A, XM_047438202.1:c.590G>A, XM_047438221.1:c.464G>A, XM_047438220.1:c.464G>A, XM_047438205.1:c.566G>A, XM_047438216.1:c.563G>A, XM_047438207.1:c.566G>A, XM_047438200.1:c.593G>A, XP_016881793.1:p.Ser209Asn, XP_016881794.1:p.Ser209Asn, NP_597717.1:p.Ser188Asn, XP_016881803.1:p.Ser155Asn, XP_016881797.1:p.Ser198Asn, XP_016881802.1:p.Ser188Asn, NP_001303956.1:p.Ser209Asn, XP_016881799.1:p.Ser189Asn, NP_001303957.1:p.Ser189Asn, NP_001303958.1:p.Ser188Asn, XP_016881800.1:p.Ser189Asn, NP_001303959.1:p.Ser103Asn, XP_047294173.1:p.Ser188Asn, XP_047294155.1:p.Ser208Asn, XP_047294151.1:p.Ser209Asn, XP_047294152.1:p.Ser209Asn, XP_047294153.1:p.Ser209Asn, XP_047294174.1:p.Ser209Asn, XP_047294154.1:p.Ser209Asn, XP_047294164.1:p.Ser189Asn, XP_047294165.1:p.Ser189Asn, XP_047294167.1:p.Ser188Asn, XP_047294166.1:p.Ser188Asn, XP_047294168.1:p.Ser188Asn, XP_047294157.1:p.Ser197Asn, XP_047294160.1:p.Ser189Asn, XP_047294159.1:p.Ser189Asn, XP_047294175.1:p.Ser155Asn, XP_047294162.1:p.Ser189Asn, XP_047294170.1:p.Ser188Asn, XP_047294171.1:p.Ser188Asn, XP_047294158.1:p.Ser197Asn, XP_047294177.1:p.Ser155Asn, XP_047294176.1:p.Ser155Asn, XP_047294161.1:p.Ser189Asn, XP_047294172.1:p.Ser188Asn, XP_047294163.1:p.Ser189Asn, XP_047294156.1:p.Ser198Asn

                      11.

                      rs1475281583 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:57927698 (GRCh38)
                        19:58439066 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:57927697:G:A
                        Gene:
                        ZNF418 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (GnomAD_exomes)
                        A=0.000008/2 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000019.10:g.57927698G>A, NC_000019.9:g.58439066G>A, XM_017026304.3:c.546C>T, XM_017026304.2:c.546C>T, XM_017026304.1:c.546C>T, XM_017026305.3:c.546C>T, XM_017026305.2:c.546C>T, XM_017026305.1:c.546C>T, NM_133460.3:c.483C>T, NM_133460.2:c.483C>T, NM_133460.1:c.483C>T, XM_017026314.3:c.384C>T, XM_017026314.2:c.384C>T, XM_017026314.1:c.384C>T, XM_017026308.3:c.513C>T, XM_017026308.2:c.513C>T, XM_017026308.1:c.513C>T, XM_017026313.2:c.483C>T, XM_017026313.1:c.483C>T, NM_001317027.2:c.546C>T, NM_001317027.1:c.546C>T, XM_017026310.2:c.486C>T, XM_017026310.1:c.486C>T, NM_001317028.2:c.486C>T, NM_001317028.1:c.486C>T, NM_001317029.2:c.483C>T, NM_001317029.1:c.483C>T, XM_017026311.2:c.486C>T, XM_017026311.1:c.486C>T, NM_001317030.2:c.228C>T, NM_001317030.1:c.228C>T, XM_047438217.1:c.483C>T, XM_047438199.1:c.543C>T, XM_047438195.1:c.546C>T, XM_047438196.1:c.546C>T, XM_047438197.1:c.546C>T, XM_047438218.1:c.546C>T, XM_047438198.1:c.546C>T, XM_047438208.1:c.486C>T, XM_047438209.1:c.486C>T, XM_047438211.1:c.483C>T, XM_047438210.1:c.483C>T, XM_047438212.1:c.483C>T, XM_047438201.1:c.510C>T, XM_047438204.1:c.486C>T, XM_047438203.1:c.486C>T, XM_047438219.1:c.384C>T, XM_047438206.1:c.486C>T, XM_047438214.1:c.483C>T, XM_047438215.1:c.483C>T, XM_047438202.1:c.510C>T, XM_047438221.1:c.384C>T, XM_047438220.1:c.384C>T, XM_047438205.1:c.486C>T, XM_047438216.1:c.483C>T, XM_047438207.1:c.486C>T, XM_047438200.1:c.513C>T

                        12.

                        rs1473662600 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:57926212 (GRCh38)
                          19:58437580 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:57926211:G:A
                          Gene:
                          ZNF418 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.57926212G>A, NC_000019.9:g.58437580G>A, XM_017026304.3:c.2032C>T, XM_017026304.2:c.2032C>T, XM_017026304.1:c.2032C>T, XM_017026305.3:c.2032C>T, XM_017026305.2:c.2032C>T, XM_017026305.1:c.2032C>T, NM_133460.3:c.1969C>T, NM_133460.2:c.1969C>T, NM_133460.1:c.1969C>T, XM_017026314.3:c.1870C>T, XM_017026314.2:c.1870C>T, XM_017026314.1:c.1870C>T, XM_017026308.3:c.1999C>T, XM_017026308.2:c.1999C>T, XM_017026308.1:c.1999C>T, XM_017026313.2:c.1969C>T, XM_017026313.1:c.1969C>T, NM_001317027.2:c.2032C>T, NM_001317027.1:c.2032C>T, XM_017026310.2:c.1972C>T, XM_017026310.1:c.1972C>T, NM_001317028.2:c.1972C>T, NM_001317028.1:c.1972C>T, NM_001317029.2:c.1969C>T, NM_001317029.1:c.1969C>T, XM_017026311.2:c.1972C>T, XM_017026311.1:c.1972C>T, NM_001317030.2:c.1714C>T, NM_001317030.1:c.1714C>T, XM_047438217.1:c.1969C>T, XM_047438199.1:c.2029C>T, XM_047438195.1:c.2032C>T, XM_047438196.1:c.2032C>T, XM_047438197.1:c.2032C>T, XM_047438218.1:c.1948C>T, XM_047438198.1:c.2032C>T, XM_047438208.1:c.1972C>T, XM_047438209.1:c.1972C>T, XM_047438211.1:c.1969C>T, XM_047438210.1:c.1969C>T, XM_047438212.1:c.1969C>T, XM_047438201.1:c.1996C>T, XM_047438204.1:c.1972C>T, XM_047438203.1:c.1972C>T, XM_047438219.1:c.1870C>T, XM_047438206.1:c.1972C>T, XM_047438214.1:c.1969C>T, XM_047438215.1:c.1969C>T, XM_047438202.1:c.1996C>T, XM_047438221.1:c.1870C>T, XM_047438220.1:c.1870C>T, XM_047438205.1:c.1972C>T, XM_047438216.1:c.1969C>T, XM_047438207.1:c.1972C>T, XM_047438200.1:c.1999C>T, XP_016881793.1:p.His678Tyr, XP_016881794.1:p.His678Tyr, NP_597717.1:p.His657Tyr, XP_016881803.1:p.His624Tyr, XP_016881797.1:p.His667Tyr, XP_016881802.1:p.His657Tyr, NP_001303956.1:p.His678Tyr, XP_016881799.1:p.His658Tyr, NP_001303957.1:p.His658Tyr, NP_001303958.1:p.His657Tyr, XP_016881800.1:p.His658Tyr, NP_001303959.1:p.His572Tyr, XP_047294173.1:p.His657Tyr, XP_047294155.1:p.His677Tyr, XP_047294151.1:p.His678Tyr, XP_047294152.1:p.His678Tyr, XP_047294153.1:p.His678Tyr, XP_047294174.1:p.His650Tyr, XP_047294154.1:p.His678Tyr, XP_047294164.1:p.His658Tyr, XP_047294165.1:p.His658Tyr, XP_047294167.1:p.His657Tyr, XP_047294166.1:p.His657Tyr, XP_047294168.1:p.His657Tyr, XP_047294157.1:p.His666Tyr, XP_047294160.1:p.His658Tyr, XP_047294159.1:p.His658Tyr, XP_047294175.1:p.His624Tyr, XP_047294162.1:p.His658Tyr, XP_047294170.1:p.His657Tyr, XP_047294171.1:p.His657Tyr, XP_047294158.1:p.His666Tyr, XP_047294177.1:p.His624Tyr, XP_047294176.1:p.His624Tyr, XP_047294161.1:p.His658Tyr, XP_047294172.1:p.His657Tyr, XP_047294163.1:p.His658Tyr, XP_047294156.1:p.His667Tyr

                          13.

                          rs1473552167 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            19:57926798 (GRCh38)
                            19:58438166 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:57926797:T:C
                            Gene:
                            ZNF418 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000019.10:g.57926798T>C, NC_000019.9:g.58438166T>C, XM_017026304.3:c.1446A>G, XM_017026304.2:c.1446A>G, XM_017026304.1:c.1446A>G, XM_017026305.3:c.1446A>G, XM_017026305.2:c.1446A>G, XM_017026305.1:c.1446A>G, NM_133460.3:c.1383A>G, NM_133460.2:c.1383A>G, NM_133460.1:c.1383A>G, XM_017026314.3:c.1284A>G, XM_017026314.2:c.1284A>G, XM_017026314.1:c.1284A>G, XM_017026308.3:c.1413A>G, XM_017026308.2:c.1413A>G, XM_017026308.1:c.1413A>G, XM_017026313.2:c.1383A>G, XM_017026313.1:c.1383A>G, NM_001317027.2:c.1446A>G, NM_001317027.1:c.1446A>G, XM_017026310.2:c.1386A>G, XM_017026310.1:c.1386A>G, NM_001317028.2:c.1386A>G, NM_001317028.1:c.1386A>G, NM_001317029.2:c.1383A>G, NM_001317029.1:c.1383A>G, XM_017026311.2:c.1386A>G, XM_017026311.1:c.1386A>G, NM_001317030.2:c.1128A>G, NM_001317030.1:c.1128A>G, XM_047438217.1:c.1383A>G, XM_047438199.1:c.1443A>G, XM_047438195.1:c.1446A>G, XM_047438196.1:c.1446A>G, XM_047438197.1:c.1446A>G, XM_047438218.1:c.1362A>G, XM_047438198.1:c.1446A>G, XM_047438208.1:c.1386A>G, XM_047438209.1:c.1386A>G, XM_047438211.1:c.1383A>G, XM_047438210.1:c.1383A>G, XM_047438212.1:c.1383A>G, XM_047438201.1:c.1410A>G, XM_047438204.1:c.1386A>G, XM_047438203.1:c.1386A>G, XM_047438219.1:c.1284A>G, XM_047438206.1:c.1386A>G, XM_047438214.1:c.1383A>G, XM_047438215.1:c.1383A>G, XM_047438202.1:c.1410A>G, XM_047438221.1:c.1284A>G, XM_047438220.1:c.1284A>G, XM_047438205.1:c.1386A>G, XM_047438216.1:c.1383A>G, XM_047438207.1:c.1386A>G, XM_047438200.1:c.1413A>G

                            14.

                            rs1470557450 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:57926150 (GRCh38)
                              19:58437518 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:57926149:T:C
                              Gene:
                              ZNF418 (Varview)
                              Functional Consequence:
                              stop_lost,terminator_codon_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000019.10:g.57926150T>C, NC_000019.9:g.58437518T>C, XM_017026304.3:c.2094A>G, XM_017026304.2:c.2094A>G, XM_017026304.1:c.2094A>G, XM_017026305.3:c.2094A>G, XM_017026305.2:c.2094A>G, XM_017026305.1:c.2094A>G, NM_133460.3:c.2031A>G, NM_133460.2:c.2031A>G, NM_133460.1:c.2031A>G, XM_017026314.3:c.1932A>G, XM_017026314.2:c.1932A>G, XM_017026314.1:c.1932A>G, XM_017026308.3:c.2061A>G, XM_017026308.2:c.2061A>G, XM_017026308.1:c.2061A>G, XM_017026313.2:c.2031A>G, XM_017026313.1:c.2031A>G, NM_001317027.2:c.2094A>G, NM_001317027.1:c.2094A>G, XM_017026310.2:c.2034A>G, XM_017026310.1:c.2034A>G, NM_001317028.2:c.2034A>G, NM_001317028.1:c.2034A>G, NM_001317029.2:c.2031A>G, NM_001317029.1:c.2031A>G, XM_017026311.2:c.2034A>G, XM_017026311.1:c.2034A>G, NM_001317030.2:c.1776A>G, NM_001317030.1:c.1776A>G, XM_047438217.1:c.2031A>G, XM_047438199.1:c.2091A>G, XM_047438195.1:c.2094A>G, XM_047438196.1:c.2094A>G, XM_047438197.1:c.2094A>G, XM_047438218.1:c.2010A>G, XM_047438198.1:c.2094A>G, XM_047438208.1:c.2034A>G, XM_047438209.1:c.2034A>G, XM_047438211.1:c.2031A>G, XM_047438210.1:c.2031A>G, XM_047438212.1:c.2031A>G, XM_047438201.1:c.2058A>G, XM_047438204.1:c.2034A>G, XM_047438203.1:c.2034A>G, XM_047438219.1:c.1932A>G, XM_047438206.1:c.2034A>G, XM_047438214.1:c.2031A>G, XM_047438215.1:c.2031A>G, XM_047438202.1:c.2058A>G, XM_047438221.1:c.1932A>G, XM_047438220.1:c.1932A>G, XM_047438205.1:c.2034A>G, XM_047438216.1:c.2031A>G, XM_047438207.1:c.2034A>G, XM_047438200.1:c.2061A>G, XP_016881793.1:p.Ter698Trp, XP_016881794.1:p.Ter698Trp, NP_597717.1:p.Ter677Trp, XP_016881803.1:p.Ter644Trp, XP_016881797.1:p.Ter687Trp, XP_016881802.1:p.Ter677Trp, NP_001303956.1:p.Ter698Trp, XP_016881799.1:p.Ter678Trp, NP_001303957.1:p.Ter678Trp, NP_001303958.1:p.Ter677Trp, XP_016881800.1:p.Ter678Trp, NP_001303959.1:p.Ter592Trp, XP_047294173.1:p.Ter677Trp, XP_047294155.1:p.Ter697Trp, XP_047294151.1:p.Ter698Trp, XP_047294152.1:p.Ter698Trp, XP_047294153.1:p.Ter698Trp, XP_047294174.1:p.Ter670Trp, XP_047294154.1:p.Ter698Trp, XP_047294164.1:p.Ter678Trp, XP_047294165.1:p.Ter678Trp, XP_047294167.1:p.Ter677Trp, XP_047294166.1:p.Ter677Trp, XP_047294168.1:p.Ter677Trp, XP_047294157.1:p.Ter686Trp, XP_047294160.1:p.Ter678Trp, XP_047294159.1:p.Ter678Trp, XP_047294175.1:p.Ter644Trp, XP_047294162.1:p.Ter678Trp, XP_047294170.1:p.Ter677Trp, XP_047294171.1:p.Ter677Trp, XP_047294158.1:p.Ter686Trp, XP_047294177.1:p.Ter644Trp, XP_047294176.1:p.Ter644Trp, XP_047294161.1:p.Ter678Trp, XP_047294172.1:p.Ter677Trp, XP_047294163.1:p.Ter678Trp, XP_047294156.1:p.Ter687Trp

                              15.

                              rs1469156806 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                19:57926616 (GRCh38)
                                19:58437984 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:57926615:C:G
                                Gene:
                                ZNF418 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (GnomAD_exomes)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000019.10:g.57926616C>G, NC_000019.9:g.58437984C>G, XM_017026304.3:c.1628G>C, XM_017026304.2:c.1628G>C, XM_017026304.1:c.1628G>C, XM_017026305.3:c.1628G>C, XM_017026305.2:c.1628G>C, XM_017026305.1:c.1628G>C, NM_133460.3:c.1565G>C, NM_133460.2:c.1565G>C, NM_133460.1:c.1565G>C, XM_017026314.3:c.1466G>C, XM_017026314.2:c.1466G>C, XM_017026314.1:c.1466G>C, XM_017026308.3:c.1595G>C, XM_017026308.2:c.1595G>C, XM_017026308.1:c.1595G>C, XM_017026313.2:c.1565G>C, XM_017026313.1:c.1565G>C, NM_001317027.2:c.1628G>C, NM_001317027.1:c.1628G>C, XM_017026310.2:c.1568G>C, XM_017026310.1:c.1568G>C, NM_001317028.2:c.1568G>C, NM_001317028.1:c.1568G>C, NM_001317029.2:c.1565G>C, NM_001317029.1:c.1565G>C, XM_017026311.2:c.1568G>C, XM_017026311.1:c.1568G>C, NM_001317030.2:c.1310G>C, NM_001317030.1:c.1310G>C, XM_047438217.1:c.1565G>C, XM_047438199.1:c.1625G>C, XM_047438195.1:c.1628G>C, XM_047438196.1:c.1628G>C, XM_047438197.1:c.1628G>C, XM_047438218.1:c.1544G>C, XM_047438198.1:c.1628G>C, XM_047438208.1:c.1568G>C, XM_047438209.1:c.1568G>C, XM_047438211.1:c.1565G>C, XM_047438210.1:c.1565G>C, XM_047438212.1:c.1565G>C, XM_047438201.1:c.1592G>C, XM_047438204.1:c.1568G>C, XM_047438203.1:c.1568G>C, XM_047438219.1:c.1466G>C, XM_047438206.1:c.1568G>C, XM_047438214.1:c.1565G>C, XM_047438215.1:c.1565G>C, XM_047438202.1:c.1592G>C, XM_047438221.1:c.1466G>C, XM_047438220.1:c.1466G>C, XM_047438205.1:c.1568G>C, XM_047438216.1:c.1565G>C, XM_047438207.1:c.1568G>C, XM_047438200.1:c.1595G>C, XP_016881793.1:p.Ser543Thr, XP_016881794.1:p.Ser543Thr, NP_597717.1:p.Ser522Thr, XP_016881803.1:p.Ser489Thr, XP_016881797.1:p.Ser532Thr, XP_016881802.1:p.Ser522Thr, NP_001303956.1:p.Ser543Thr, XP_016881799.1:p.Ser523Thr, NP_001303957.1:p.Ser523Thr, NP_001303958.1:p.Ser522Thr, XP_016881800.1:p.Ser523Thr, NP_001303959.1:p.Ser437Thr, XP_047294173.1:p.Ser522Thr, XP_047294155.1:p.Ser542Thr, XP_047294151.1:p.Ser543Thr, XP_047294152.1:p.Ser543Thr, XP_047294153.1:p.Ser543Thr, XP_047294174.1:p.Ser515Thr, XP_047294154.1:p.Ser543Thr, XP_047294164.1:p.Ser523Thr, XP_047294165.1:p.Ser523Thr, XP_047294167.1:p.Ser522Thr, XP_047294166.1:p.Ser522Thr, XP_047294168.1:p.Ser522Thr, XP_047294157.1:p.Ser531Thr, XP_047294160.1:p.Ser523Thr, XP_047294159.1:p.Ser523Thr, XP_047294175.1:p.Ser489Thr, XP_047294162.1:p.Ser523Thr, XP_047294170.1:p.Ser522Thr, XP_047294171.1:p.Ser522Thr, XP_047294158.1:p.Ser531Thr, XP_047294177.1:p.Ser489Thr, XP_047294176.1:p.Ser489Thr, XP_047294161.1:p.Ser523Thr, XP_047294172.1:p.Ser522Thr, XP_047294163.1:p.Ser523Thr, XP_047294156.1:p.Ser532Thr

                                16.

                                rs1468536325 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->C [Show Flanks]
                                  Chromosome:
                                  19:57926464 (GRCh38)
                                  19:58437833 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:57926464:CCC:CCCC
                                  Gene:
                                  ZNF418 (Varview)
                                  Functional Consequence:
                                  frameshift_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  CCCC=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.57926467dup, NC_000019.9:g.58437835dup, XM_017026304.3:c.1779dup, XM_017026304.2:c.1779dup, XM_017026304.1:c.1779dup, XM_017026305.3:c.1779dup, XM_017026305.2:c.1779dup, XM_017026305.1:c.1779dup, NM_133460.3:c.1716dup, NM_133460.2:c.1716dup, NM_133460.1:c.1716dup, XM_017026314.3:c.1617dup, XM_017026314.2:c.1617dup, XM_017026314.1:c.1617dup, XM_017026308.3:c.1746dup, XM_017026308.2:c.1746dup, XM_017026308.1:c.1746dup, XM_017026313.2:c.1716dup, XM_017026313.1:c.1716dup, NM_001317027.2:c.1779dup, NM_001317027.1:c.1779dup, XM_017026310.2:c.1719dup, XM_017026310.1:c.1719dup, NM_001317028.2:c.1719dup, NM_001317028.1:c.1719dup, NM_001317029.2:c.1716dup, NM_001317029.1:c.1716dup, XM_017026311.2:c.1719dup, XM_017026311.1:c.1719dup, NM_001317030.2:c.1461dup, NM_001317030.1:c.1461dup, XM_047438217.1:c.1716dup, XM_047438199.1:c.1776dup, XM_047438195.1:c.1779dup, XM_047438196.1:c.1779dup, XM_047438197.1:c.1779dup, XM_047438218.1:c.1695dup, XM_047438198.1:c.1779dup, XM_047438208.1:c.1719dup, XM_047438209.1:c.1719dup, XM_047438211.1:c.1716dup, XM_047438210.1:c.1716dup, XM_047438212.1:c.1716dup, XM_047438201.1:c.1743dup, XM_047438204.1:c.1719dup, XM_047438203.1:c.1719dup, XM_047438219.1:c.1617dup, XM_047438206.1:c.1719dup, XM_047438214.1:c.1716dup, XM_047438215.1:c.1716dup, XM_047438202.1:c.1743dup, XM_047438221.1:c.1617dup, XM_047438220.1:c.1617dup, XM_047438205.1:c.1719dup, XM_047438216.1:c.1716dup, XM_047438207.1:c.1719dup, XM_047438200.1:c.1746dup, XP_016881793.1:p.Lys594fs, XP_016881794.1:p.Lys594fs, NP_597717.1:p.Lys573fs, XP_016881803.1:p.Lys540fs, XP_016881797.1:p.Lys583fs, XP_016881802.1:p.Lys573fs, NP_001303956.1:p.Lys594fs, XP_016881799.1:p.Lys574fs, NP_001303957.1:p.Lys574fs, NP_001303958.1:p.Lys573fs, XP_016881800.1:p.Lys574fs, NP_001303959.1:p.Lys488fs, XP_047294173.1:p.Lys573fs, XP_047294155.1:p.Lys593fs, XP_047294151.1:p.Lys594fs, XP_047294152.1:p.Lys594fs, XP_047294153.1:p.Lys594fs, XP_047294174.1:p.Lys566fs, XP_047294154.1:p.Lys594fs, XP_047294164.1:p.Lys574fs, XP_047294165.1:p.Lys574fs, XP_047294167.1:p.Lys573fs, XP_047294166.1:p.Lys573fs, XP_047294168.1:p.Lys573fs, XP_047294157.1:p.Lys582fs, XP_047294160.1:p.Lys574fs, XP_047294159.1:p.Lys574fs, XP_047294175.1:p.Lys540fs, XP_047294162.1:p.Lys574fs, XP_047294170.1:p.Lys573fs, XP_047294171.1:p.Lys573fs, XP_047294158.1:p.Lys582fs, XP_047294177.1:p.Lys540fs, XP_047294176.1:p.Lys540fs, XP_047294161.1:p.Lys574fs, XP_047294172.1:p.Lys573fs, XP_047294163.1:p.Lys574fs, XP_047294156.1:p.Lys583fs

                                  17.

                                  rs1466418165 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    19:57927363 (GRCh38)
                                    19:58438731 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:57927362:A:C
                                    Gene:
                                    ZNF418 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000019.10:g.57927363A>C, NC_000019.9:g.58438731A>C, XM_017026304.3:c.881T>G, XM_017026304.2:c.881T>G, XM_017026304.1:c.881T>G, XM_017026305.3:c.881T>G, XM_017026305.2:c.881T>G, XM_017026305.1:c.881T>G, NM_133460.3:c.818T>G, NM_133460.2:c.818T>G, NM_133460.1:c.818T>G, XM_017026314.3:c.719T>G, XM_017026314.2:c.719T>G, XM_017026314.1:c.719T>G, XM_017026308.3:c.848T>G, XM_017026308.2:c.848T>G, XM_017026308.1:c.848T>G, XM_017026313.2:c.818T>G, XM_017026313.1:c.818T>G, NM_001317027.2:c.881T>G, NM_001317027.1:c.881T>G, XM_017026310.2:c.821T>G, XM_017026310.1:c.821T>G, NM_001317028.2:c.821T>G, NM_001317028.1:c.821T>G, NM_001317029.2:c.818T>G, NM_001317029.1:c.818T>G, XM_017026311.2:c.821T>G, XM_017026311.1:c.821T>G, NM_001317030.2:c.563T>G, NM_001317030.1:c.563T>G, XM_047438217.1:c.818T>G, XM_047438199.1:c.878T>G, XM_047438195.1:c.881T>G, XM_047438196.1:c.881T>G, XM_047438197.1:c.881T>G, XM_047438198.1:c.881T>G, XM_047438208.1:c.821T>G, XM_047438209.1:c.821T>G, XM_047438211.1:c.818T>G, XM_047438210.1:c.818T>G, XM_047438212.1:c.818T>G, XM_047438201.1:c.845T>G, XM_047438204.1:c.821T>G, XM_047438203.1:c.821T>G, XM_047438219.1:c.719T>G, XM_047438206.1:c.821T>G, XM_047438214.1:c.818T>G, XM_047438215.1:c.818T>G, XM_047438202.1:c.845T>G, XM_047438221.1:c.719T>G, XM_047438220.1:c.719T>G, XM_047438205.1:c.821T>G, XM_047438216.1:c.818T>G, XM_047438207.1:c.821T>G, XM_047438200.1:c.848T>G, XP_016881793.1:p.Leu294Arg, XP_016881794.1:p.Leu294Arg, NP_597717.1:p.Leu273Arg, XP_016881803.1:p.Leu240Arg, XP_016881797.1:p.Leu283Arg, XP_016881802.1:p.Leu273Arg, NP_001303956.1:p.Leu294Arg, XP_016881799.1:p.Leu274Arg, NP_001303957.1:p.Leu274Arg, NP_001303958.1:p.Leu273Arg, XP_016881800.1:p.Leu274Arg, NP_001303959.1:p.Leu188Arg, XP_047294173.1:p.Leu273Arg, XP_047294155.1:p.Leu293Arg, XP_047294151.1:p.Leu294Arg, XP_047294152.1:p.Leu294Arg, XP_047294153.1:p.Leu294Arg, XP_047294154.1:p.Leu294Arg, XP_047294164.1:p.Leu274Arg, XP_047294165.1:p.Leu274Arg, XP_047294167.1:p.Leu273Arg, XP_047294166.1:p.Leu273Arg, XP_047294168.1:p.Leu273Arg, XP_047294157.1:p.Leu282Arg, XP_047294160.1:p.Leu274Arg, XP_047294159.1:p.Leu274Arg, XP_047294175.1:p.Leu240Arg, XP_047294162.1:p.Leu274Arg, XP_047294170.1:p.Leu273Arg, XP_047294171.1:p.Leu273Arg, XP_047294158.1:p.Leu282Arg, XP_047294177.1:p.Leu240Arg, XP_047294176.1:p.Leu240Arg, XP_047294161.1:p.Leu274Arg, XP_047294172.1:p.Leu273Arg, XP_047294163.1:p.Leu274Arg, XP_047294156.1:p.Leu283Arg

                                    18.

                                    rs1465760278 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CC>- [Show Flanks]
                                      Chromosome:
                                      19:57930447 (GRCh38)
                                      19:58441815 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:57930445:CCC:C
                                      Gene:
                                      ZNF418 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,frameshift_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000019.10:g.57930447_57930448del, NC_000019.9:g.58441815_58441816del, XM_017026304.3:c.177_178del, XM_017026304.2:c.177_178del, XM_017026304.1:c.177_178del, XM_017026305.3:c.177_178del, XM_017026305.2:c.177_178del, XM_017026305.1:c.177_178del, NM_133460.3:c.114_115del, NM_133460.2:c.114_115del, NM_133460.1:c.114_115del, XM_017026314.3:c.15_16del, XM_017026314.2:c.15_16del, XM_017026314.1:c.15_16del, XM_017026308.3:c.144_145del, XM_017026308.2:c.144_145del, XM_017026308.1:c.144_145del, XM_017026313.2:c.114_115del, XM_017026313.1:c.114_115del, NM_001317027.2:c.177_178del, NM_001317027.1:c.177_178del, XM_017026310.2:c.117_118del, XM_017026310.1:c.117_118del, NM_001317028.2:c.117_118del, NM_001317028.1:c.117_118del, NM_001317029.2:c.114_115del, NM_001317029.1:c.114_115del, XM_017026311.2:c.117_118del, XM_017026311.1:c.117_118del, XM_047438217.1:c.114_115del, XM_047438199.1:c.174_175del, XM_047438195.1:c.177_178del, XM_047438196.1:c.177_178del, XM_047438197.1:c.177_178del, XM_047438218.1:c.177_178del, XM_047438198.1:c.177_178del, XM_047438208.1:c.117_118del, XM_047438209.1:c.117_118del, XM_047438211.1:c.114_115del, XM_047438210.1:c.114_115del, XM_047438212.1:c.114_115del, XM_047438201.1:c.141_142del, XM_047438204.1:c.117_118del, XM_047438203.1:c.117_118del, XM_047438219.1:c.15_16del, XM_047438206.1:c.117_118del, XM_047438214.1:c.114_115del, XM_047438215.1:c.114_115del, XM_047438202.1:c.141_142del, XM_047438221.1:c.15_16del, XM_047438220.1:c.15_16del, XM_047438205.1:c.117_118del, XM_047438216.1:c.114_115del, XM_047438207.1:c.117_118del, XM_047438200.1:c.144_145del, XP_016881793.1:p.Trp59fs, XP_016881794.1:p.Trp59fs, NP_597717.1:p.Trp38fs, XP_016881803.1:p.Trp5fs, XP_016881797.1:p.Trp48fs, XP_016881802.1:p.Trp38fs, NP_001303956.1:p.Trp59fs, XP_016881799.1:p.Trp39fs, NP_001303957.1:p.Trp39fs, NP_001303958.1:p.Trp38fs, XP_016881800.1:p.Trp39fs, XP_047294173.1:p.Trp38fs, XP_047294155.1:p.Trp58fs, XP_047294151.1:p.Trp59fs, XP_047294152.1:p.Trp59fs, XP_047294153.1:p.Trp59fs, XP_047294174.1:p.Trp59fs, XP_047294154.1:p.Trp59fs, XP_047294164.1:p.Trp39fs, XP_047294165.1:p.Trp39fs, XP_047294167.1:p.Trp38fs, XP_047294166.1:p.Trp38fs, XP_047294168.1:p.Trp38fs, XP_047294157.1:p.Trp47fs, XP_047294160.1:p.Trp39fs, XP_047294159.1:p.Trp39fs, XP_047294175.1:p.Trp5fs, XP_047294162.1:p.Trp39fs, XP_047294170.1:p.Trp38fs, XP_047294171.1:p.Trp38fs, XP_047294158.1:p.Trp47fs, XP_047294177.1:p.Trp5fs, XP_047294176.1:p.Trp5fs, XP_047294161.1:p.Trp39fs, XP_047294172.1:p.Trp38fs, XP_047294163.1:p.Trp39fs, XP_047294156.1:p.Trp48fs

                                      19.

                                      rs1463479509 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:57927152 (GRCh38)
                                        19:58438520 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:57927151:C:T
                                        Gene:
                                        ZNF418 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.57927152C>T, NC_000019.9:g.58438520C>T, XM_017026304.3:c.1092G>A, XM_017026304.2:c.1092G>A, XM_017026304.1:c.1092G>A, XM_017026305.3:c.1092G>A, XM_017026305.2:c.1092G>A, XM_017026305.1:c.1092G>A, NM_133460.3:c.1029G>A, NM_133460.2:c.1029G>A, NM_133460.1:c.1029G>A, XM_017026314.3:c.930G>A, XM_017026314.2:c.930G>A, XM_017026314.1:c.930G>A, XM_017026308.3:c.1059G>A, XM_017026308.2:c.1059G>A, XM_017026308.1:c.1059G>A, XM_017026313.2:c.1029G>A, XM_017026313.1:c.1029G>A, NM_001317027.2:c.1092G>A, NM_001317027.1:c.1092G>A, XM_017026310.2:c.1032G>A, XM_017026310.1:c.1032G>A, NM_001317028.2:c.1032G>A, NM_001317028.1:c.1032G>A, NM_001317029.2:c.1029G>A, NM_001317029.1:c.1029G>A, XM_017026311.2:c.1032G>A, XM_017026311.1:c.1032G>A, NM_001317030.2:c.774G>A, NM_001317030.1:c.774G>A, XM_047438217.1:c.1029G>A, XM_047438199.1:c.1089G>A, XM_047438195.1:c.1092G>A, XM_047438196.1:c.1092G>A, XM_047438197.1:c.1092G>A, XM_047438218.1:c.1008G>A, XM_047438198.1:c.1092G>A, XM_047438208.1:c.1032G>A, XM_047438209.1:c.1032G>A, XM_047438211.1:c.1029G>A, XM_047438210.1:c.1029G>A, XM_047438212.1:c.1029G>A, XM_047438201.1:c.1056G>A, XM_047438204.1:c.1032G>A, XM_047438203.1:c.1032G>A, XM_047438219.1:c.930G>A, XM_047438206.1:c.1032G>A, XM_047438214.1:c.1029G>A, XM_047438215.1:c.1029G>A, XM_047438202.1:c.1056G>A, XM_047438221.1:c.930G>A, XM_047438220.1:c.930G>A, XM_047438205.1:c.1032G>A, XM_047438216.1:c.1029G>A, XM_047438207.1:c.1032G>A, XM_047438200.1:c.1059G>A

                                        20.

                                        rs1462260332 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AC>- [Show Flanks]
                                          Chromosome:
                                          19:57927607 (GRCh38)
                                          19:58438975 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:57927603:CACAC:CAC
                                          Gene:
                                          ZNF418 (Varview)
                                          Functional Consequence:
                                          inframe_indel,stop_gained,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          CAC=0./0 (ALFA)
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000019.10:g.57927605AC[1], NC_000019.9:g.58438973AC[1], XM_017026304.3:c.639_640del, XM_017026304.2:c.639_640del, XM_017026304.1:c.639_640del, XM_017026305.3:c.639_640del, XM_017026305.2:c.639_640del, XM_017026305.1:c.639_640del, NM_133460.3:c.576_577del, NM_133460.2:c.576_577del, NM_133460.1:c.576_577del, XM_017026314.3:c.477_478del, XM_017026314.2:c.477_478del, XM_017026314.1:c.477_478del, XM_017026308.3:c.606_607del, XM_017026308.2:c.606_607del, XM_017026308.1:c.606_607del, XM_017026313.2:c.576_577del, XM_017026313.1:c.576_577del, NM_001317027.2:c.639_640del, NM_001317027.1:c.639_640del, XM_017026310.2:c.579_580del, XM_017026310.1:c.579_580del, NM_001317028.2:c.579_580del, NM_001317028.1:c.579_580del, NM_001317029.2:c.576_577del, NM_001317029.1:c.576_577del, XM_017026311.2:c.579_580del, XM_017026311.1:c.579_580del, NM_001317030.2:c.321_322del, NM_001317030.1:c.321_322del, XM_047438217.1:c.576_577del, XM_047438199.1:c.636_637del, XM_047438195.1:c.639_640del, XM_047438196.1:c.639_640del, XM_047438197.1:c.639_640del, XM_047438218.1:c.639_640del, XM_047438198.1:c.639_640del, XM_047438208.1:c.579_580del, XM_047438209.1:c.579_580del, XM_047438211.1:c.576_577del, XM_047438210.1:c.576_577del, XM_047438212.1:c.576_577del, XM_047438201.1:c.603_604del, XM_047438204.1:c.579_580del, XM_047438203.1:c.579_580del, XM_047438219.1:c.477_478del, XM_047438206.1:c.579_580del, XM_047438214.1:c.576_577del, XM_047438215.1:c.576_577del, XM_047438202.1:c.603_604del, XM_047438221.1:c.477_478del, XM_047438220.1:c.477_478del, XM_047438205.1:c.579_580del, XM_047438216.1:c.576_577del, XM_047438207.1:c.579_580del, XM_047438200.1:c.606_607del, XP_016881793.1:p.Cys213_Glu214delinsTer, XP_016881794.1:p.Cys213_Glu214delinsTer, NP_597717.1:p.Cys192_Glu193delinsTer, XP_016881803.1:p.Cys159_Glu160delinsTer, XP_016881797.1:p.Cys202_Glu203delinsTer, XP_016881802.1:p.Cys192_Glu193delinsTer, NP_001303956.1:p.Cys213_Glu214delinsTer, XP_016881799.1:p.Cys193_Glu194delinsTer, NP_001303957.1:p.Cys193_Glu194delinsTer, NP_001303958.1:p.Cys192_Glu193delinsTer, XP_016881800.1:p.Cys193_Glu194delinsTer, NP_001303959.1:p.Cys107_Glu108delinsTer, XP_047294173.1:p.Cys192_Glu193delinsTer, XP_047294155.1:p.Cys212_Glu213delinsTer, XP_047294151.1:p.Cys213_Glu214delinsTer, XP_047294152.1:p.Cys213_Glu214delinsTer, XP_047294153.1:p.Cys213_Glu214delinsTer, XP_047294174.1:p.Cys213_Glu214delinsTer, XP_047294154.1:p.Cys213_Glu214delinsTer, XP_047294164.1:p.Cys193_Glu194delinsTer, XP_047294165.1:p.Cys193_Glu194delinsTer, XP_047294167.1:p.Cys192_Glu193delinsTer, XP_047294166.1:p.Cys192_Glu193delinsTer, XP_047294168.1:p.Cys192_Glu193delinsTer, XP_047294157.1:p.Cys201_Glu202delinsTer, XP_047294160.1:p.Cys193_Glu194delinsTer, XP_047294159.1:p.Cys193_Glu194delinsTer, XP_047294175.1:p.Cys159_Glu160delinsTer, XP_047294162.1:p.Cys193_Glu194delinsTer, XP_047294170.1:p.Cys192_Glu193delinsTer, XP_047294171.1:p.Cys192_Glu193delinsTer, XP_047294158.1:p.Cys201_Glu202delinsTer, XP_047294177.1:p.Cys159_Glu160delinsTer, XP_047294176.1:p.Cys159_Glu160delinsTer, XP_047294161.1:p.Cys193_Glu194delinsTer, XP_047294172.1:p.Cys192_Glu193delinsTer, XP_047294163.1:p.Cys193_Glu194delinsTer, XP_047294156.1:p.Cys202_Glu203delinsTer

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