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Items: 1 to 20 of 559

1.

rs1489619058 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    19:37414400 (GRCh38)
    19:37905302 (GRCh37)
    Canonical SPDI:
    NC_000019.10:37414399:A:T
    Gene:
    ZNF569 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000051/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000019.10:g.37414400A>T, NC_000019.9:g.37905302A>T, XM_006723047.5:c.330T>A, XM_006723047.4:c.330T>A, XM_006723047.3:c.330T>A, XM_006723047.2:c.330T>A, XM_006723047.1:c.330T>A, XM_006723048.5:c.330T>A, XM_006723048.4:c.330T>A, XM_006723048.3:c.330T>A, XM_006723048.2:c.330T>A, XM_006723048.1:c.330T>A, XM_011526538.4:c.330T>A, XM_011526538.3:c.330T>A, XM_011526538.2:c.330T>A, XM_011526538.1:c.330T>A, XM_011526539.4:c.258T>A, XM_011526539.3:c.258T>A, XM_011526539.2:c.258T>A, XM_011526539.1:c.258T>A, XM_006723046.3:c.330T>A, XM_006723046.2:c.330T>A, XM_006723046.1:c.330T>A, NM_152484.3:c.258T>A, NM_152484.2:c.258T>A, NM_001330482.2:c.-220T>A, NM_001330482.1:c.-220T>A, XM_017026379.2:c.-220T>A, XM_017026379.1:c.-220T>A, XM_047438277.1:c.330T>A, XM_047438278.1:c.330T>A, XP_006723110.1:p.Asp110Glu, XP_006723111.1:p.Asp110Glu, XP_011524840.1:p.Asp110Glu, XP_011524841.1:p.Asp86Glu, XP_006723109.1:p.Asp110Glu, NP_689697.2:p.Asp86Glu, XP_047294233.1:p.Asp110Glu, XP_047294234.1:p.Asp110Glu

    2.

    rs1487945040 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      19:37414330 (GRCh38)
      19:37905232 (GRCh37)
      Canonical SPDI:
      NC_000019.10:37414329:C:A
      Gene:
      ZNF569 (Varview)
      Functional Consequence:
      stop_gained,5_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000019.10:g.37414330C>A, NC_000019.9:g.37905232C>A, XM_006723047.5:c.400G>T, XM_006723047.4:c.400G>T, XM_006723047.3:c.400G>T, XM_006723047.2:c.400G>T, XM_006723047.1:c.400G>T, XM_006723048.5:c.400G>T, XM_006723048.4:c.400G>T, XM_006723048.3:c.400G>T, XM_006723048.2:c.400G>T, XM_006723048.1:c.400G>T, XM_011526538.4:c.400G>T, XM_011526538.3:c.400G>T, XM_011526538.2:c.400G>T, XM_011526538.1:c.400G>T, XM_011526539.4:c.328G>T, XM_011526539.3:c.328G>T, XM_011526539.2:c.328G>T, XM_011526539.1:c.328G>T, XM_006723046.3:c.400G>T, XM_006723046.2:c.400G>T, XM_006723046.1:c.400G>T, NM_152484.3:c.328G>T, NM_152484.2:c.328G>T, NM_001330482.2:c.-150G>T, NM_001330482.1:c.-150G>T, XM_017026379.2:c.-150G>T, XM_017026379.1:c.-150G>T, XM_047438277.1:c.400G>T, XM_047438278.1:c.400G>T, XP_006723110.1:p.Glu134Ter, XP_006723111.1:p.Glu134Ter, XP_011524840.1:p.Glu134Ter, XP_011524841.1:p.Glu110Ter, XP_006723109.1:p.Glu134Ter, NP_689697.2:p.Glu110Ter, XP_047294233.1:p.Glu134Ter, XP_047294234.1:p.Glu134Ter

      3.

      rs1480285766 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAG>- [Show Flanks]
        Chromosome:
        19:37413066 (GRCh38)
        19:37903968 (GRCh37)
        Canonical SPDI:
        NC_000019.10:37413063:AGAAG:AG
        Gene:
        ZNF569 (Varview)
        Functional Consequence:
        inframe_deletion,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        AG=0.000071/1 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        NC_000019.10:g.37413066_37413068del, NC_000019.9:g.37903968_37903970del, XM_006723047.5:c.1664_1666del, XM_006723047.4:c.1664_1666del, XM_006723047.3:c.1664_1666del, XM_006723047.2:c.1664_1666del, XM_006723047.1:c.1664_1666del, XM_006723048.5:c.1664_1666del, XM_006723048.4:c.1664_1666del, XM_006723048.3:c.1664_1666del, XM_006723048.2:c.1664_1666del, XM_006723048.1:c.1664_1666del, XM_011526538.4:c.1664_1666del, XM_011526538.3:c.1664_1666del, XM_011526538.2:c.1664_1666del, XM_011526538.1:c.1664_1666del, XM_011526539.4:c.1592_1594del, XM_011526539.3:c.1592_1594del, XM_011526539.2:c.1592_1594del, XM_011526539.1:c.1592_1594del, XM_006723046.3:c.1664_1666del, XM_006723046.2:c.1664_1666del, XM_006723046.1:c.1664_1666del, NM_152484.3:c.1592_1594del, NM_152484.2:c.1592_1594del, NM_001330482.2:c.1115_1117del, NM_001330482.1:c.1115_1117del, XM_017026379.2:c.1115_1117del, XM_017026379.1:c.1115_1117del, XM_047438277.1:c.1664_1666del, XM_047438278.1:c.1664_1666del, XP_006723110.1:p.Phe555del, XP_006723111.1:p.Phe555del, XP_011524840.1:p.Phe555del, XP_011524841.1:p.Phe531del, XP_006723109.1:p.Phe555del, NP_689697.2:p.Phe531del, NP_001317411.1:p.Phe372del, XP_016881868.1:p.Phe372del, XP_047294233.1:p.Phe555del, XP_047294234.1:p.Phe555del

        4.

        rs1480264979 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          19:37413289 (GRCh38)
          19:37904191 (GRCh37)
          Canonical SPDI:
          NC_000019.10:37413288:G:C
          Gene:
          ZNF569 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000019.10:g.37413289G>C, NC_000019.9:g.37904191G>C, XM_006723047.5:c.1441C>G, XM_006723047.4:c.1441C>G, XM_006723047.3:c.1441C>G, XM_006723047.2:c.1441C>G, XM_006723047.1:c.1441C>G, XM_006723048.5:c.1441C>G, XM_006723048.4:c.1441C>G, XM_006723048.3:c.1441C>G, XM_006723048.2:c.1441C>G, XM_006723048.1:c.1441C>G, XM_011526538.4:c.1441C>G, XM_011526538.3:c.1441C>G, XM_011526538.2:c.1441C>G, XM_011526538.1:c.1441C>G, XM_011526539.4:c.1369C>G, XM_011526539.3:c.1369C>G, XM_011526539.2:c.1369C>G, XM_011526539.1:c.1369C>G, XM_006723046.3:c.1441C>G, XM_006723046.2:c.1441C>G, XM_006723046.1:c.1441C>G, NM_152484.3:c.1369C>G, NM_152484.2:c.1369C>G, NM_001330482.2:c.892C>G, NM_001330482.1:c.892C>G, XM_017026379.2:c.892C>G, XM_017026379.1:c.892C>G, XM_047438277.1:c.1441C>G, XM_047438278.1:c.1441C>G, XP_006723110.1:p.Gln481Glu, XP_006723111.1:p.Gln481Glu, XP_011524840.1:p.Gln481Glu, XP_011524841.1:p.Gln457Glu, XP_006723109.1:p.Gln481Glu, NP_689697.2:p.Gln457Glu, NP_001317411.1:p.Gln298Glu, XP_016881868.1:p.Gln298Glu, XP_047294233.1:p.Gln481Glu, XP_047294234.1:p.Gln481Glu

          5.

          rs1476286235 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            19:37413051 (GRCh38)
            19:37903953 (GRCh37)
            Canonical SPDI:
            NC_000019.10:37413050:G:A
            Gene:
            ZNF569 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000019.10:g.37413051G>A, NC_000019.9:g.37903953G>A, XM_006723047.5:c.1679C>T, XM_006723047.4:c.1679C>T, XM_006723047.3:c.1679C>T, XM_006723047.2:c.1679C>T, XM_006723047.1:c.1679C>T, XM_006723048.5:c.1679C>T, XM_006723048.4:c.1679C>T, XM_006723048.3:c.1679C>T, XM_006723048.2:c.1679C>T, XM_006723048.1:c.1679C>T, XM_011526538.4:c.1679C>T, XM_011526538.3:c.1679C>T, XM_011526538.2:c.1679C>T, XM_011526538.1:c.1679C>T, XM_011526539.4:c.1607C>T, XM_011526539.3:c.1607C>T, XM_011526539.2:c.1607C>T, XM_011526539.1:c.1607C>T, XM_006723046.3:c.1679C>T, XM_006723046.2:c.1679C>T, XM_006723046.1:c.1679C>T, NM_152484.3:c.1607C>T, NM_152484.2:c.1607C>T, NM_001330482.2:c.1130C>T, NM_001330482.1:c.1130C>T, XM_017026379.2:c.1130C>T, XM_017026379.1:c.1130C>T, XM_047438277.1:c.1679C>T, XM_047438278.1:c.1679C>T, XP_006723110.1:p.Ser560Phe, XP_006723111.1:p.Ser560Phe, XP_011524840.1:p.Ser560Phe, XP_011524841.1:p.Ser536Phe, XP_006723109.1:p.Ser560Phe, NP_689697.2:p.Ser536Phe, NP_001317411.1:p.Ser377Phe, XP_016881868.1:p.Ser377Phe, XP_047294233.1:p.Ser560Phe, XP_047294234.1:p.Ser560Phe

            6.

            rs1472616238 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              19:37412702 (GRCh38)
              19:37903604 (GRCh37)
              Canonical SPDI:
              NC_000019.10:37412701:A:G
              Gene:
              ZNF569 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000019.10:g.37412702A>G, NC_000019.9:g.37903604A>G, XM_006723047.5:c.2028T>C, XM_006723047.4:c.2028T>C, XM_006723047.3:c.2028T>C, XM_006723047.2:c.2028T>C, XM_006723047.1:c.2028T>C, XM_006723048.5:c.2028T>C, XM_006723048.4:c.2028T>C, XM_006723048.3:c.2028T>C, XM_006723048.2:c.2028T>C, XM_006723048.1:c.2028T>C, XM_011526538.4:c.2028T>C, XM_011526538.3:c.2028T>C, XM_011526538.2:c.2028T>C, XM_011526538.1:c.2028T>C, XM_011526539.4:c.1956T>C, XM_011526539.3:c.1956T>C, XM_011526539.2:c.1956T>C, XM_011526539.1:c.1956T>C, XM_006723046.3:c.2028T>C, XM_006723046.2:c.2028T>C, XM_006723046.1:c.2028T>C, NM_152484.3:c.1956T>C, NM_152484.2:c.1956T>C, NM_001330482.2:c.1479T>C, NM_001330482.1:c.1479T>C, XM_017026379.2:c.1479T>C, XM_017026379.1:c.1479T>C, XM_047438277.1:c.2028T>C, XM_047438278.1:c.2028T>C

              7.

              rs1471896648 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:37412718 (GRCh38)
                19:37903620 (GRCh37)
                Canonical SPDI:
                NC_000019.10:37412717:G:A
                Gene:
                ZNF569 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.37412718G>A, NC_000019.9:g.37903620G>A, XM_006723047.5:c.2012C>T, XM_006723047.4:c.2012C>T, XM_006723047.3:c.2012C>T, XM_006723047.2:c.2012C>T, XM_006723047.1:c.2012C>T, XM_006723048.5:c.2012C>T, XM_006723048.4:c.2012C>T, XM_006723048.3:c.2012C>T, XM_006723048.2:c.2012C>T, XM_006723048.1:c.2012C>T, XM_011526538.4:c.2012C>T, XM_011526538.3:c.2012C>T, XM_011526538.2:c.2012C>T, XM_011526538.1:c.2012C>T, XM_011526539.4:c.1940C>T, XM_011526539.3:c.1940C>T, XM_011526539.2:c.1940C>T, XM_011526539.1:c.1940C>T, XM_006723046.3:c.2012C>T, XM_006723046.2:c.2012C>T, XM_006723046.1:c.2012C>T, NM_152484.3:c.1940C>T, NM_152484.2:c.1940C>T, NM_001330482.2:c.1463C>T, NM_001330482.1:c.1463C>T, XM_017026379.2:c.1463C>T, XM_017026379.1:c.1463C>T, XM_047438277.1:c.2012C>T, XM_047438278.1:c.2012C>T, XP_006723110.1:p.Ser671Leu, XP_006723111.1:p.Ser671Leu, XP_011524840.1:p.Ser671Leu, XP_011524841.1:p.Ser647Leu, XP_006723109.1:p.Ser671Leu, NP_689697.2:p.Ser647Leu, NP_001317411.1:p.Ser488Leu, XP_016881868.1:p.Ser488Leu, XP_047294233.1:p.Ser671Leu, XP_047294234.1:p.Ser671Leu

                8.

                rs1467255128 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:37414258 (GRCh38)
                  19:37905160 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:37414257:G:A
                  Gene:
                  ZNF569 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000019.10:g.37414258G>A, NC_000019.9:g.37905160G>A, XM_006723047.5:c.472C>T, XM_006723047.4:c.472C>T, XM_006723047.3:c.472C>T, XM_006723047.2:c.472C>T, XM_006723047.1:c.472C>T, XM_006723048.5:c.472C>T, XM_006723048.4:c.472C>T, XM_006723048.3:c.472C>T, XM_006723048.2:c.472C>T, XM_006723048.1:c.472C>T, XM_011526538.4:c.472C>T, XM_011526538.3:c.472C>T, XM_011526538.2:c.472C>T, XM_011526538.1:c.472C>T, XM_011526539.4:c.400C>T, XM_011526539.3:c.400C>T, XM_011526539.2:c.400C>T, XM_011526539.1:c.400C>T, XM_006723046.3:c.472C>T, XM_006723046.2:c.472C>T, XM_006723046.1:c.472C>T, NM_152484.3:c.400C>T, NM_152484.2:c.400C>T, NM_001330482.2:c.-78C>T, NM_001330482.1:c.-78C>T, XM_017026379.2:c.-78C>T, XM_017026379.1:c.-78C>T, XM_047438277.1:c.472C>T, XM_047438278.1:c.472C>T, XP_006723110.1:p.His158Tyr, XP_006723111.1:p.His158Tyr, XP_011524840.1:p.His158Tyr, XP_011524841.1:p.His134Tyr, XP_006723109.1:p.His158Tyr, NP_689697.2:p.His134Tyr, XP_047294233.1:p.His158Tyr, XP_047294234.1:p.His158Tyr

                  9.

                  rs1467211742 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:37414362 (GRCh38)
                    19:37905264 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:37414361:A:G
                    Gene:
                    ZNF569 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000011/3 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000019.10:g.37414362A>G, NC_000019.9:g.37905264A>G, XM_006723047.5:c.368T>C, XM_006723047.4:c.368T>C, XM_006723047.3:c.368T>C, XM_006723047.2:c.368T>C, XM_006723047.1:c.368T>C, XM_006723048.5:c.368T>C, XM_006723048.4:c.368T>C, XM_006723048.3:c.368T>C, XM_006723048.2:c.368T>C, XM_006723048.1:c.368T>C, XM_011526538.4:c.368T>C, XM_011526538.3:c.368T>C, XM_011526538.2:c.368T>C, XM_011526538.1:c.368T>C, XM_011526539.4:c.296T>C, XM_011526539.3:c.296T>C, XM_011526539.2:c.296T>C, XM_011526539.1:c.296T>C, XM_006723046.3:c.368T>C, XM_006723046.2:c.368T>C, XM_006723046.1:c.368T>C, NM_152484.3:c.296T>C, NM_152484.2:c.296T>C, NM_001330482.2:c.-182T>C, NM_001330482.1:c.-182T>C, XM_017026379.2:c.-182T>C, XM_017026379.1:c.-182T>C, XM_047438277.1:c.368T>C, XM_047438278.1:c.368T>C, XP_006723110.1:p.Val123Ala, XP_006723111.1:p.Val123Ala, XP_011524840.1:p.Val123Ala, XP_011524841.1:p.Val99Ala, XP_006723109.1:p.Val123Ala, NP_689697.2:p.Val99Ala, XP_047294233.1:p.Val123Ala, XP_047294234.1:p.Val123Ala

                    10.

                    rs1464671700 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:37413246 (GRCh38)
                      19:37904148 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:37413245:C:T
                      Gene:
                      ZNF569 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000019.10:g.37413246C>T, NC_000019.9:g.37904148C>T, XM_006723047.5:c.1484G>A, XM_006723047.4:c.1484G>A, XM_006723047.3:c.1484G>A, XM_006723047.2:c.1484G>A, XM_006723047.1:c.1484G>A, XM_006723048.5:c.1484G>A, XM_006723048.4:c.1484G>A, XM_006723048.3:c.1484G>A, XM_006723048.2:c.1484G>A, XM_006723048.1:c.1484G>A, XM_011526538.4:c.1484G>A, XM_011526538.3:c.1484G>A, XM_011526538.2:c.1484G>A, XM_011526538.1:c.1484G>A, XM_011526539.4:c.1412G>A, XM_011526539.3:c.1412G>A, XM_011526539.2:c.1412G>A, XM_011526539.1:c.1412G>A, XM_006723046.3:c.1484G>A, XM_006723046.2:c.1484G>A, XM_006723046.1:c.1484G>A, NM_152484.3:c.1412G>A, NM_152484.2:c.1412G>A, NM_001330482.2:c.935G>A, NM_001330482.1:c.935G>A, XM_017026379.2:c.935G>A, XM_017026379.1:c.935G>A, XM_047438277.1:c.1484G>A, XM_047438278.1:c.1484G>A, XP_006723110.1:p.Cys495Tyr, XP_006723111.1:p.Cys495Tyr, XP_011524840.1:p.Cys495Tyr, XP_011524841.1:p.Cys471Tyr, XP_006723109.1:p.Cys495Tyr, NP_689697.2:p.Cys471Tyr, NP_001317411.1:p.Cys312Tyr, XP_016881868.1:p.Cys312Tyr, XP_047294233.1:p.Cys495Tyr, XP_047294234.1:p.Cys495Tyr

                      11.

                      rs1464624515 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:37444953 (GRCh38)
                        19:37935855 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:37444952:G:A
                        Gene:
                        ZNF569 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,coding_sequence_variant,missense_variant
                        HGVS:
                        NC_000019.10:g.37444953G>A, NC_000019.9:g.37935855G>A, XM_006723047.5:c.41C>T, XM_006723047.4:c.41C>T, XM_006723047.3:c.41C>T, XM_006723047.2:c.41C>T, XM_006723047.1:c.41C>T, XM_006723048.5:c.41C>T, XM_006723048.4:c.41C>T, XM_006723048.3:c.41C>T, XM_006723048.2:c.41C>T, XM_006723048.1:c.41C>T, XM_011526538.4:c.41C>T, XM_011526538.3:c.41C>T, XM_011526538.2:c.41C>T, XM_011526538.1:c.41C>T, XM_011526539.4:c.-32C>T, XM_011526539.3:c.-32C>T, XM_011526539.2:c.-32C>T, XM_011526539.1:c.-32C>T, XM_006723046.3:c.41C>T, XM_006723046.2:c.41C>T, XM_006723046.1:c.41C>T, NM_152484.3:c.-32C>T, NM_152484.2:c.-32C>T, NM_001330482.2:c.-286C>T, NM_001330482.1:c.-286C>T, XM_017026379.2:c.-286C>T, XM_017026379.1:c.-286C>T, XM_047438277.1:c.41C>T, XM_047438278.1:c.41C>T, XP_006723110.1:p.Ala14Val, XP_006723111.1:p.Ala14Val, XP_011524840.1:p.Ala14Val, XP_006723109.1:p.Ala14Val, XP_047294233.1:p.Ala14Val, XP_047294234.1:p.Ala14Val

                        12.

                        rs1463752235 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          19:37414034 (GRCh38)
                          19:37904936 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:37414033:A:T
                          Gene:
                          ZNF569 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000019.10:g.37414034A>T, NC_000019.9:g.37904936A>T, XM_006723047.5:c.696T>A, XM_006723047.4:c.696T>A, XM_006723047.3:c.696T>A, XM_006723047.2:c.696T>A, XM_006723047.1:c.696T>A, XM_006723048.5:c.696T>A, XM_006723048.4:c.696T>A, XM_006723048.3:c.696T>A, XM_006723048.2:c.696T>A, XM_006723048.1:c.696T>A, XM_011526538.4:c.696T>A, XM_011526538.3:c.696T>A, XM_011526538.2:c.696T>A, XM_011526538.1:c.696T>A, XM_011526539.4:c.624T>A, XM_011526539.3:c.624T>A, XM_011526539.2:c.624T>A, XM_011526539.1:c.624T>A, XM_006723046.3:c.696T>A, XM_006723046.2:c.696T>A, XM_006723046.1:c.696T>A, NM_152484.3:c.624T>A, NM_152484.2:c.624T>A, NM_001330482.2:c.147T>A, NM_001330482.1:c.147T>A, XM_017026379.2:c.147T>A, XM_017026379.1:c.147T>A, XM_047438277.1:c.696T>A, XM_047438278.1:c.696T>A, XP_006723110.1:p.His232Gln, XP_006723111.1:p.His232Gln, XP_011524840.1:p.His232Gln, XP_011524841.1:p.His208Gln, XP_006723109.1:p.His232Gln, NP_689697.2:p.His208Gln, NP_001317411.1:p.His49Gln, XP_016881868.1:p.His49Gln, XP_047294233.1:p.His232Gln, XP_047294234.1:p.His232Gln

                          13.

                          rs1462886393 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:37413357 (GRCh38)
                            19:37904259 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:37413356:C:T
                            Gene:
                            ZNF569 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000019.10:g.37413357C>T, NC_000019.9:g.37904259C>T, XM_006723047.5:c.1373G>A, XM_006723047.4:c.1373G>A, XM_006723047.3:c.1373G>A, XM_006723047.2:c.1373G>A, XM_006723047.1:c.1373G>A, XM_006723048.5:c.1373G>A, XM_006723048.4:c.1373G>A, XM_006723048.3:c.1373G>A, XM_006723048.2:c.1373G>A, XM_006723048.1:c.1373G>A, XM_011526538.4:c.1373G>A, XM_011526538.3:c.1373G>A, XM_011526538.2:c.1373G>A, XM_011526538.1:c.1373G>A, XM_011526539.4:c.1301G>A, XM_011526539.3:c.1301G>A, XM_011526539.2:c.1301G>A, XM_011526539.1:c.1301G>A, XM_006723046.3:c.1373G>A, XM_006723046.2:c.1373G>A, XM_006723046.1:c.1373G>A, NM_152484.3:c.1301G>A, NM_152484.2:c.1301G>A, NM_001330482.2:c.824G>A, NM_001330482.1:c.824G>A, XM_017026379.2:c.824G>A, XM_017026379.1:c.824G>A, XM_047438277.1:c.1373G>A, XM_047438278.1:c.1373G>A, XP_006723110.1:p.Arg458Lys, XP_006723111.1:p.Arg458Lys, XP_011524840.1:p.Arg458Lys, XP_011524841.1:p.Arg434Lys, XP_006723109.1:p.Arg458Lys, NP_689697.2:p.Arg434Lys, NP_001317411.1:p.Arg275Lys, XP_016881868.1:p.Arg275Lys, XP_047294233.1:p.Arg458Lys, XP_047294234.1:p.Arg458Lys

                            14.

                            rs1461719300 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:37426267 (GRCh38)
                              19:37917169 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:37426266:T:C
                              Gene:
                              ZNF569 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_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.37426267T>C, NC_000019.9:g.37917169T>C, XM_006723047.5:c.199A>G, XM_006723047.4:c.199A>G, XM_006723047.3:c.199A>G, XM_006723047.2:c.199A>G, XM_006723047.1:c.199A>G, XM_006723048.5:c.199A>G, XM_006723048.4:c.199A>G, XM_006723048.3:c.199A>G, XM_006723048.2:c.199A>G, XM_006723048.1:c.199A>G, XM_011526538.4:c.199A>G, XM_011526538.3:c.199A>G, XM_011526538.2:c.199A>G, XM_011526538.1:c.199A>G, XM_011526539.4:c.127A>G, XM_011526539.3:c.127A>G, XM_011526539.2:c.127A>G, XM_011526539.1:c.127A>G, XM_006723046.3:c.199A>G, XM_006723046.2:c.199A>G, XM_006723046.1:c.199A>G, NM_152484.3:c.127A>G, NM_152484.2:c.127A>G, XM_047438277.1:c.199A>G, XM_047438278.1:c.199A>G, XP_006723110.1:p.Asn67Asp, XP_006723111.1:p.Asn67Asp, XP_011524840.1:p.Asn67Asp, XP_011524841.1:p.Asn43Asp, XP_006723109.1:p.Asn67Asp, NP_689697.2:p.Asn43Asp, XP_047294233.1:p.Asn67Asp, XP_047294234.1:p.Asn67Asp

                              15.

                              rs1460008980 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:37413022 (GRCh38)
                                19:37903924 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:37413021:C:T
                                Gene:
                                ZNF569 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000019.10:g.37413022C>T, NC_000019.9:g.37903924C>T, XM_006723047.5:c.1708G>A, XM_006723047.4:c.1708G>A, XM_006723047.3:c.1708G>A, XM_006723047.2:c.1708G>A, XM_006723047.1:c.1708G>A, XM_006723048.5:c.1708G>A, XM_006723048.4:c.1708G>A, XM_006723048.3:c.1708G>A, XM_006723048.2:c.1708G>A, XM_006723048.1:c.1708G>A, XM_011526538.4:c.1708G>A, XM_011526538.3:c.1708G>A, XM_011526538.2:c.1708G>A, XM_011526538.1:c.1708G>A, XM_011526539.4:c.1636G>A, XM_011526539.3:c.1636G>A, XM_011526539.2:c.1636G>A, XM_011526539.1:c.1636G>A, XM_006723046.3:c.1708G>A, XM_006723046.2:c.1708G>A, XM_006723046.1:c.1708G>A, NM_152484.3:c.1636G>A, NM_152484.2:c.1636G>A, NM_001330482.2:c.1159G>A, NM_001330482.1:c.1159G>A, XM_017026379.2:c.1159G>A, XM_017026379.1:c.1159G>A, XM_047438277.1:c.1708G>A, XM_047438278.1:c.1708G>A, XP_006723110.1:p.Gly570Arg, XP_006723111.1:p.Gly570Arg, XP_011524840.1:p.Gly570Arg, XP_011524841.1:p.Gly546Arg, XP_006723109.1:p.Gly570Arg, NP_689697.2:p.Gly546Arg, NP_001317411.1:p.Gly387Arg, XP_016881868.1:p.Gly387Arg, XP_047294233.1:p.Gly570Arg, XP_047294234.1:p.Gly570Arg

                                16.

                                rs1453291176 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  19:37412929 (GRCh38)
                                  19:37903831 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:37412928:G:T
                                  Gene:
                                  ZNF569 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000111/1 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000019.10:g.37412929G>T, NC_000019.9:g.37903831G>T, XM_006723047.5:c.1801C>A, XM_006723047.4:c.1801C>A, XM_006723047.3:c.1801C>A, XM_006723047.2:c.1801C>A, XM_006723047.1:c.1801C>A, XM_006723048.5:c.1801C>A, XM_006723048.4:c.1801C>A, XM_006723048.3:c.1801C>A, XM_006723048.2:c.1801C>A, XM_006723048.1:c.1801C>A, XM_011526538.4:c.1801C>A, XM_011526538.3:c.1801C>A, XM_011526538.2:c.1801C>A, XM_011526538.1:c.1801C>A, XM_011526539.4:c.1729C>A, XM_011526539.3:c.1729C>A, XM_011526539.2:c.1729C>A, XM_011526539.1:c.1729C>A, XM_006723046.3:c.1801C>A, XM_006723046.2:c.1801C>A, XM_006723046.1:c.1801C>A, NM_152484.3:c.1729C>A, NM_152484.2:c.1729C>A, NM_001330482.2:c.1252C>A, NM_001330482.1:c.1252C>A, XM_017026379.2:c.1252C>A, XM_017026379.1:c.1252C>A, XM_047438277.1:c.1801C>A, XM_047438278.1:c.1801C>A, XP_006723110.1:p.Pro601Thr, XP_006723111.1:p.Pro601Thr, XP_011524840.1:p.Pro601Thr, XP_011524841.1:p.Pro577Thr, XP_006723109.1:p.Pro601Thr, NP_689697.2:p.Pro577Thr, NP_001317411.1:p.Pro418Thr, XP_016881868.1:p.Pro418Thr, XP_047294233.1:p.Pro601Thr, XP_047294234.1:p.Pro601Thr

                                  17.

                                  rs1452867491 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:37414192 (GRCh38)
                                    19:37905094 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:37414191:C:T
                                    Gene:
                                    ZNF569 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000028/1 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000019.10:g.37414192C>T, NC_000019.9:g.37905094C>T, XM_006723047.5:c.538G>A, XM_006723047.4:c.538G>A, XM_006723047.3:c.538G>A, XM_006723047.2:c.538G>A, XM_006723047.1:c.538G>A, XM_006723048.5:c.538G>A, XM_006723048.4:c.538G>A, XM_006723048.3:c.538G>A, XM_006723048.2:c.538G>A, XM_006723048.1:c.538G>A, XM_011526538.4:c.538G>A, XM_011526538.3:c.538G>A, XM_011526538.2:c.538G>A, XM_011526538.1:c.538G>A, XM_011526539.4:c.466G>A, XM_011526539.3:c.466G>A, XM_011526539.2:c.466G>A, XM_011526539.1:c.466G>A, XM_006723046.3:c.538G>A, XM_006723046.2:c.538G>A, XM_006723046.1:c.538G>A, NM_152484.3:c.466G>A, NM_152484.2:c.466G>A, NM_001330482.2:c.-12G>A, NM_001330482.1:c.-12G>A, XM_017026379.2:c.-12G>A, XM_017026379.1:c.-12G>A, XM_047438277.1:c.538G>A, XM_047438278.1:c.538G>A, XP_006723110.1:p.Val180Met, XP_006723111.1:p.Val180Met, XP_011524840.1:p.Val180Met, XP_011524841.1:p.Val156Met, XP_006723109.1:p.Val180Met, NP_689697.2:p.Val156Met, XP_047294233.1:p.Val180Met, XP_047294234.1:p.Val180Met

                                    18.

                                    rs1452529001 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      19:37413396 (GRCh38)
                                      19:37904298 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:37413395:T:C
                                      Gene:
                                      ZNF569 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_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.37413396T>C, NC_000019.9:g.37904298T>C, XM_006723047.5:c.1334A>G, XM_006723047.4:c.1334A>G, XM_006723047.3:c.1334A>G, XM_006723047.2:c.1334A>G, XM_006723047.1:c.1334A>G, XM_006723048.5:c.1334A>G, XM_006723048.4:c.1334A>G, XM_006723048.3:c.1334A>G, XM_006723048.2:c.1334A>G, XM_006723048.1:c.1334A>G, XM_011526538.4:c.1334A>G, XM_011526538.3:c.1334A>G, XM_011526538.2:c.1334A>G, XM_011526538.1:c.1334A>G, XM_011526539.4:c.1262A>G, XM_011526539.3:c.1262A>G, XM_011526539.2:c.1262A>G, XM_011526539.1:c.1262A>G, XM_006723046.3:c.1334A>G, XM_006723046.2:c.1334A>G, XM_006723046.1:c.1334A>G, NM_152484.3:c.1262A>G, NM_152484.2:c.1262A>G, NM_001330482.2:c.785A>G, NM_001330482.1:c.785A>G, XM_017026379.2:c.785A>G, XM_017026379.1:c.785A>G, XM_047438277.1:c.1334A>G, XM_047438278.1:c.1334A>G, XP_006723110.1:p.His445Arg, XP_006723111.1:p.His445Arg, XP_011524840.1:p.His445Arg, XP_011524841.1:p.His421Arg, XP_006723109.1:p.His445Arg, NP_689697.2:p.His421Arg, NP_001317411.1:p.His262Arg, XP_016881868.1:p.His262Arg, XP_047294233.1:p.His445Arg, XP_047294234.1:p.His445Arg

                                      19.

                                      rs1452107092 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->G [Show Flanks]
                                        Chromosome:
                                        19:37413400 (GRCh38)
                                        19:37904303 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:37413400:G:GG
                                        Gene:
                                        ZNF569 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.000014/2 (GnomAD)
                                        G=0.000016/4 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.37413401dup, NC_000019.9:g.37904303dup, XM_006723047.5:c.1329dup, XM_006723047.4:c.1329dup, XM_006723047.3:c.1329dup, XM_006723047.2:c.1329dup, XM_006723047.1:c.1329dup, XM_006723048.5:c.1329dup, XM_006723048.4:c.1329dup, XM_006723048.3:c.1329dup, XM_006723048.2:c.1329dup, XM_006723048.1:c.1329dup, XM_011526538.4:c.1329dup, XM_011526538.3:c.1329dup, XM_011526538.2:c.1329dup, XM_011526538.1:c.1329dup, XM_011526539.4:c.1257dup, XM_011526539.3:c.1257dup, XM_011526539.2:c.1257dup, XM_011526539.1:c.1257dup, XM_006723046.3:c.1329dup, XM_006723046.2:c.1329dup, XM_006723046.1:c.1329dup, NM_152484.3:c.1257dup, NM_152484.2:c.1257dup, NM_001330482.2:c.780dup, NM_001330482.1:c.780dup, XM_017026379.2:c.780dup, XM_017026379.1:c.780dup, XM_047438277.1:c.1329dup, XM_047438278.1:c.1329dup, XP_006723110.1:p.Ser444fs, XP_006723111.1:p.Ser444fs, XP_011524840.1:p.Ser444fs, XP_011524841.1:p.Ser420fs, XP_006723109.1:p.Ser444fs, NP_689697.2:p.Ser420fs, NP_001317411.1:p.Ser261fs, XP_016881868.1:p.Ser261fs, XP_047294233.1:p.Ser444fs, XP_047294234.1:p.Ser444fs

                                        20.

                                        rs1452018566 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TAA>- [Show Flanks]
                                          Chromosome:
                                          19:37412878 (GRCh38)
                                          19:37903780 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:37412875:AATAA:AA
                                          Gene:
                                          ZNF569 (Varview)
                                          Functional Consequence:
                                          inframe_deletion,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AA=0./0 (ALFA)
                                          -=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000019.10:g.37412878_37412880del, NC_000019.9:g.37903780_37903782del, XM_006723047.5:c.1852_1854del, XM_006723047.4:c.1852_1854del, XM_006723047.3:c.1852_1854del, XM_006723047.2:c.1852_1854del, XM_006723047.1:c.1852_1854del, XM_006723048.5:c.1852_1854del, XM_006723048.4:c.1852_1854del, XM_006723048.3:c.1852_1854del, XM_006723048.2:c.1852_1854del, XM_006723048.1:c.1852_1854del, XM_011526538.4:c.1852_1854del, XM_011526538.3:c.1852_1854del, XM_011526538.2:c.1852_1854del, XM_011526538.1:c.1852_1854del, XM_011526539.4:c.1780_1782del, XM_011526539.3:c.1780_1782del, XM_011526539.2:c.1780_1782del, XM_011526539.1:c.1780_1782del, XM_006723046.3:c.1852_1854del, XM_006723046.2:c.1852_1854del, XM_006723046.1:c.1852_1854del, NM_152484.3:c.1780_1782del, NM_152484.2:c.1780_1782del, NM_001330482.2:c.1303_1305del, NM_001330482.1:c.1303_1305del, XM_017026379.2:c.1303_1305del, XM_017026379.1:c.1303_1305del, XM_047438277.1:c.1852_1854del, XM_047438278.1:c.1852_1854del, XP_006723110.1:p.Ile618del, XP_006723111.1:p.Ile618del, XP_011524840.1:p.Ile618del, XP_011524841.1:p.Ile594del, XP_006723109.1:p.Ile618del, NP_689697.2:p.Ile594del, NP_001317411.1:p.Ile435del, XP_016881868.1:p.Ile435del, XP_047294233.1:p.Ile618del, XP_047294234.1:p.Ile618del

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