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Items: 1 to 20 of 898

1.

rs1489897637 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:40036141 (GRCh38)
    19:40542048 (GRCh37)
    Canonical SPDI:
    NC_000019.10:40036140:T:C
    Gene:
    ZNF780B (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000019.10:g.40036141T>C, NC_000019.9:g.40542048T>C, NW_009646206.1:g.311284T>C, XM_005258591.6:c.721A>G, XM_005258591.5:c.721A>G, XM_005258591.4:c.721A>G, XM_005258591.3:c.721A>G, XM_005258591.2:c.721A>G, XM_005258591.1:c.721A>G, XM_005258590.5:c.721A>G, XM_005258590.4:c.721A>G, XM_005258590.3:c.721A>G, XM_005258590.2:c.721A>G, XM_005258590.1:c.721A>G, XM_006723072.5:c.721A>G, XM_006723072.4:c.721A>G, XM_006723072.3:c.721A>G, XM_006723072.2:c.721A>G, XM_006723072.1:c.721A>G, XM_005258592.4:c.721A>G, XM_005258592.3:c.721A>G, XM_005258592.2:c.721A>G, XM_005258592.1:c.721A>G, XM_005258595.4:c.721A>G, XM_005258595.3:c.721A>G, XM_005258595.2:c.721A>G, XM_005258595.1:c.721A>G, XM_005258593.3:c.718A>G, XM_005258593.2:c.718A>G, XM_005258593.1:c.718A>G, XM_017026425.3:c.718A>G, XM_017026425.2:c.718A>G, XM_017026425.1:c.718A>G, XM_011526593.3:c.721A>G, XM_011526593.2:c.721A>G, XM_011526593.1:c.721A>G, NM_001005851.3:c.718A>G, NM_001005851.2:c.718A>G, XM_017026427.2:c.718A>G, XM_017026427.1:c.718A>G, XM_017026426.2:c.718A>G, XM_017026426.1:c.718A>G, XM_047438338.1:c.721A>G, XM_047438339.1:c.718A>G, XM_047438341.1:c.718A>G, XM_047438340.1:c.718A>G, XM_047438342.1:c.718A>G, XM_047438337.1:c.721A>G, XP_005258648.1:p.Lys241Glu, XP_005258647.1:p.Lys241Glu, XP_006723135.1:p.Lys241Glu, XP_005258649.1:p.Lys241Glu, XP_005258652.1:p.Lys241Glu, XP_005258650.1:p.Lys240Glu, XP_016881914.1:p.Lys240Glu, XP_011524895.1:p.Lys241Glu, NP_001005851.1:p.Lys240Glu, XP_016881916.1:p.Lys240Glu, XP_016881915.1:p.Lys240Glu, XP_047294294.1:p.Lys241Glu, XP_047294295.1:p.Lys240Glu, XP_047294297.1:p.Lys240Glu, XP_047294296.1:p.Lys240Glu, XP_047294298.1:p.Lys240Glu, XP_047294293.1:p.Lys241Glu

    2.

    rs1487922904 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:40036390 (GRCh38)
      19:40542297 (GRCh37)
      Canonical SPDI:
      NC_000019.10:40036389:G:A
      Gene:
      ZNF780B (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.000084/1 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000019.10:g.40036390G>A, NC_000019.9:g.40542297G>A, NW_009646206.1:g.311533G>A, XM_005258591.6:c.472C>T, XM_005258591.5:c.472C>T, XM_005258591.4:c.472C>T, XM_005258591.3:c.472C>T, XM_005258591.2:c.472C>T, XM_005258591.1:c.472C>T, XM_005258590.5:c.472C>T, XM_005258590.4:c.472C>T, XM_005258590.3:c.472C>T, XM_005258590.2:c.472C>T, XM_005258590.1:c.472C>T, XM_006723072.5:c.472C>T, XM_006723072.4:c.472C>T, XM_006723072.3:c.472C>T, XM_006723072.2:c.472C>T, XM_006723072.1:c.472C>T, XM_005258592.4:c.472C>T, XM_005258592.3:c.472C>T, XM_005258592.2:c.472C>T, XM_005258592.1:c.472C>T, XM_005258595.4:c.472C>T, XM_005258595.3:c.472C>T, XM_005258595.2:c.472C>T, XM_005258595.1:c.472C>T, XM_005258593.3:c.469C>T, XM_005258593.2:c.469C>T, XM_005258593.1:c.469C>T, XM_017026425.3:c.469C>T, XM_017026425.2:c.469C>T, XM_017026425.1:c.469C>T, XM_011526593.3:c.472C>T, XM_011526593.2:c.472C>T, XM_011526593.1:c.472C>T, NM_001005851.3:c.469C>T, NM_001005851.2:c.469C>T, XM_017026427.2:c.469C>T, XM_017026427.1:c.469C>T, XM_017026426.2:c.469C>T, XM_017026426.1:c.469C>T, XM_047438338.1:c.472C>T, XM_047438339.1:c.469C>T, XM_047438341.1:c.469C>T, XM_047438340.1:c.469C>T, XM_047438342.1:c.469C>T, XM_047438337.1:c.472C>T, XP_005258648.1:p.Pro158Ser, XP_005258647.1:p.Pro158Ser, XP_006723135.1:p.Pro158Ser, XP_005258649.1:p.Pro158Ser, XP_005258652.1:p.Pro158Ser, XP_005258650.1:p.Pro157Ser, XP_016881914.1:p.Pro157Ser, XP_011524895.1:p.Pro158Ser, NP_001005851.1:p.Pro157Ser, XP_016881916.1:p.Pro157Ser, XP_016881915.1:p.Pro157Ser, XP_047294294.1:p.Pro158Ser, XP_047294295.1:p.Pro157Ser, XP_047294297.1:p.Pro157Ser, XP_047294296.1:p.Pro157Ser, XP_047294298.1:p.Pro157Ser, XP_047294293.1:p.Pro158Ser

      3.

      rs1486897051 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        T>- [Show Flanks]
        Chromosome:
        19:40035534 (GRCh38)
        19:40541441 (GRCh37)
        Canonical SPDI:
        NC_000019.10:40035533:T:
        Gene:
        ZNF780B (Varview)
        Functional Consequence:
        frameshift_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        -=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000019.10:g.40035534del, NC_000019.9:g.40541441del, NW_009646206.1:g.310677del, XM_005258591.6:c.1328del, XM_005258591.5:c.1328del, XM_005258591.4:c.1328del, XM_005258591.3:c.1328del, XM_005258591.2:c.1328del, XM_005258591.1:c.1328del, XM_005258590.5:c.1328del, XM_005258590.4:c.1328del, XM_005258590.3:c.1328del, XM_005258590.2:c.1328del, XM_005258590.1:c.1328del, XM_006723072.5:c.1328del, XM_006723072.4:c.1328del, XM_006723072.3:c.1328del, XM_006723072.2:c.1328del, XM_006723072.1:c.1328del, XM_005258592.4:c.1328del, XM_005258592.3:c.1328del, XM_005258592.2:c.1328del, XM_005258592.1:c.1328del, XM_005258595.4:c.1328del, XM_005258595.3:c.1328del, XM_005258595.2:c.1328del, XM_005258595.1:c.1328del, XM_005258593.3:c.1325del, XM_005258593.2:c.1325del, XM_005258593.1:c.1325del, XM_017026425.3:c.1325del, XM_017026425.2:c.1325del, XM_017026425.1:c.1325del, XM_011526593.3:c.1328del, XM_011526593.2:c.1328del, XM_011526593.1:c.1328del, NM_001005851.3:c.1325del, NM_001005851.2:c.1325del, XM_017026427.2:c.1325del, XM_017026427.1:c.1325del, XM_017026426.2:c.1325del, XM_017026426.1:c.1325del, XM_047438338.1:c.1328del, XM_047438339.1:c.1325del, XM_047438341.1:c.1325del, XM_047438340.1:c.1325del, XM_047438342.1:c.1325del, XM_047438337.1:c.1328del, XP_005258648.1:p.Glu443fs, XP_005258647.1:p.Glu443fs, XP_006723135.1:p.Glu443fs, XP_005258649.1:p.Glu443fs, XP_005258652.1:p.Glu443fs, XP_005258650.1:p.Glu442fs, XP_016881914.1:p.Glu442fs, XP_011524895.1:p.Glu443fs, NP_001005851.1:p.Glu442fs, XP_016881916.1:p.Glu442fs, XP_016881915.1:p.Glu442fs, XP_047294294.1:p.Glu443fs, XP_047294295.1:p.Glu442fs, XP_047294297.1:p.Glu442fs, XP_047294296.1:p.Glu442fs, XP_047294298.1:p.Glu442fs, XP_047294293.1:p.Glu443fs

        4.

        rs1486358576 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->TA [Show Flanks]
          Chromosome:
          19:40035277 (GRCh38)
          19:40541185 (GRCh37)
          Canonical SPDI:
          NC_000019.10:40035277::TA
          Gene:
          ZNF780B (Varview)
          Functional Consequence:
          frameshift_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          TA=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000019.10:g.40035277_40035278insTA, NC_000019.9:g.40541184_40541185insTA, NW_009646206.1:g.310420_310421insTA, XM_005258591.6:c.1584_1585insTA, XM_005258591.5:c.1584_1585insTA, XM_005258591.4:c.1584_1585insTA, XM_005258591.3:c.1584_1585insTA, XM_005258591.2:c.1584_1585insTA, XM_005258591.1:c.1584_1585insTA, XM_005258590.5:c.1584_1585insTA, XM_005258590.4:c.1584_1585insTA, XM_005258590.3:c.1584_1585insTA, XM_005258590.2:c.1584_1585insTA, XM_005258590.1:c.1584_1585insTA, XM_006723072.5:c.1584_1585insTA, XM_006723072.4:c.1584_1585insTA, XM_006723072.3:c.1584_1585insTA, XM_006723072.2:c.1584_1585insTA, XM_006723072.1:c.1584_1585insTA, XM_005258592.4:c.1584_1585insTA, XM_005258592.3:c.1584_1585insTA, XM_005258592.2:c.1584_1585insTA, XM_005258592.1:c.1584_1585insTA, XM_005258595.4:c.1584_1585insTA, XM_005258595.3:c.1584_1585insTA, XM_005258595.2:c.1584_1585insTA, XM_005258595.1:c.1584_1585insTA, XM_005258593.3:c.1581_1582insTA, XM_005258593.2:c.1581_1582insTA, XM_005258593.1:c.1581_1582insTA, XM_017026425.3:c.1581_1582insTA, XM_017026425.2:c.1581_1582insTA, XM_017026425.1:c.1581_1582insTA, XM_011526593.3:c.1584_1585insTA, XM_011526593.2:c.1584_1585insTA, XM_011526593.1:c.1584_1585insTA, NM_001005851.3:c.1581_1582insTA, NM_001005851.2:c.1581_1582insTA, XM_017026427.2:c.1581_1582insTA, XM_017026427.1:c.1581_1582insTA, XM_017026426.2:c.1581_1582insTA, XM_017026426.1:c.1581_1582insTA, XM_047438339.1:c.1581_1582insTA, XM_047438341.1:c.1581_1582insTA, XM_047438342.1:c.1581_1582insTA, XM_047438340.1:c.1581_1582insTA, XM_047438337.1:c.1584_1585insTA, XM_047438338.1:c.1584_1585insTA, XP_005258648.1:p.Pro529fs, XP_005258647.1:p.Pro529fs, XP_006723135.1:p.Pro529fs, XP_005258649.1:p.Pro529fs, XP_005258652.1:p.Pro529fs, XP_005258650.1:p.Pro528fs, XP_016881914.1:p.Pro528fs, XP_011524895.1:p.Pro529fs, NP_001005851.1:p.Pro528fs, XP_016881916.1:p.Pro528fs, XP_016881915.1:p.Pro528fs, XP_047294295.1:p.Pro528fs, XP_047294297.1:p.Pro528fs, XP_047294298.1:p.Pro528fs, XP_047294296.1:p.Pro528fs, XP_047294293.1:p.Pro529fs, XP_047294294.1:p.Pro529fs

          5.

          rs1486262443 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            19:40034957 (GRCh38)
            19:40540864 (GRCh37)
            Canonical SPDI:
            NC_000019.10:40034956:A:G
            Gene:
            ZNF780B (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by cluster
            MAF:
            G=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000019.10:g.40034957A>G, NC_000019.9:g.40540864A>G, NW_009646206.1:g.310100A>G, XM_005258591.6:c.1905T>C, XM_005258591.5:c.1905T>C, XM_005258591.4:c.1905T>C, XM_005258591.3:c.1905T>C, XM_005258591.2:c.1905T>C, XM_005258591.1:c.1905T>C, XM_005258590.5:c.1905T>C, XM_005258590.4:c.1905T>C, XM_005258590.3:c.1905T>C, XM_005258590.2:c.1905T>C, XM_005258590.1:c.1905T>C, XM_006723072.5:c.1905T>C, XM_006723072.4:c.1905T>C, XM_006723072.3:c.1905T>C, XM_006723072.2:c.1905T>C, XM_006723072.1:c.1905T>C, XM_005258592.4:c.1905T>C, XM_005258592.3:c.1905T>C, XM_005258592.2:c.1905T>C, XM_005258592.1:c.1905T>C, XM_005258595.4:c.1905T>C, XM_005258595.3:c.1905T>C, XM_005258595.2:c.1905T>C, XM_005258595.1:c.1905T>C, XM_005258593.3:c.1902T>C, XM_005258593.2:c.1902T>C, XM_005258593.1:c.1902T>C, XM_017026425.3:c.1902T>C, XM_017026425.2:c.1902T>C, XM_017026425.1:c.1902T>C, XM_011526593.3:c.1905T>C, XM_011526593.2:c.1905T>C, XM_011526593.1:c.1905T>C, NM_001005851.3:c.1902T>C, NM_001005851.2:c.1902T>C, XM_017026427.2:c.1902T>C, XM_017026427.1:c.1902T>C, XM_017026426.2:c.1902T>C, XM_017026426.1:c.1902T>C, XM_047438338.1:c.1905T>C, XM_047438339.1:c.1902T>C, XM_047438341.1:c.1902T>C, XM_047438340.1:c.1902T>C, XM_047438342.1:c.1902T>C, XM_047438337.1:c.1905T>C

            6.

            rs1486038051 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              19:40035605 (GRCh38)
              19:40541512 (GRCh37)
              Canonical SPDI:
              NC_000019.10:40035604:T:C
              Gene:
              ZNF780B (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000019.10:g.40035605T>C, NC_000019.9:g.40541512T>C, NW_009646206.1:g.310748T>C, XM_005258591.6:c.1257A>G, XM_005258591.5:c.1257A>G, XM_005258591.4:c.1257A>G, XM_005258591.3:c.1257A>G, XM_005258591.2:c.1257A>G, XM_005258591.1:c.1257A>G, XM_005258590.5:c.1257A>G, XM_005258590.4:c.1257A>G, XM_005258590.3:c.1257A>G, XM_005258590.2:c.1257A>G, XM_005258590.1:c.1257A>G, XM_006723072.5:c.1257A>G, XM_006723072.4:c.1257A>G, XM_006723072.3:c.1257A>G, XM_006723072.2:c.1257A>G, XM_006723072.1:c.1257A>G, XM_005258592.4:c.1257A>G, XM_005258592.3:c.1257A>G, XM_005258592.2:c.1257A>G, XM_005258592.1:c.1257A>G, XM_005258595.4:c.1257A>G, XM_005258595.3:c.1257A>G, XM_005258595.2:c.1257A>G, XM_005258595.1:c.1257A>G, XM_005258593.3:c.1254A>G, XM_005258593.2:c.1254A>G, XM_005258593.1:c.1254A>G, XM_017026425.3:c.1254A>G, XM_017026425.2:c.1254A>G, XM_017026425.1:c.1254A>G, XM_011526593.3:c.1257A>G, XM_011526593.2:c.1257A>G, XM_011526593.1:c.1257A>G, NM_001005851.3:c.1254A>G, NM_001005851.2:c.1254A>G, XM_017026427.2:c.1254A>G, XM_017026427.1:c.1254A>G, XM_017026426.2:c.1254A>G, XM_017026426.1:c.1254A>G, XM_047438338.1:c.1257A>G, XM_047438339.1:c.1254A>G, XM_047438341.1:c.1254A>G, XM_047438340.1:c.1254A>G, XM_047438342.1:c.1254A>G, XM_047438337.1:c.1257A>G

              7.

              rs1483788660 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:40035091 (GRCh38)
                19:40540998 (GRCh37)
                Canonical SPDI:
                NC_000019.10:40035090:A:G
                Gene:
                ZNF780B (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000019.10:g.40035091A>G, NC_000019.9:g.40540998A>G, NW_009646206.1:g.310234A>G, XM_005258591.6:c.1771T>C, XM_005258591.5:c.1771T>C, XM_005258591.4:c.1771T>C, XM_005258591.3:c.1771T>C, XM_005258591.2:c.1771T>C, XM_005258591.1:c.1771T>C, XM_005258590.5:c.1771T>C, XM_005258590.4:c.1771T>C, XM_005258590.3:c.1771T>C, XM_005258590.2:c.1771T>C, XM_005258590.1:c.1771T>C, XM_006723072.5:c.1771T>C, XM_006723072.4:c.1771T>C, XM_006723072.3:c.1771T>C, XM_006723072.2:c.1771T>C, XM_006723072.1:c.1771T>C, XM_005258592.4:c.1771T>C, XM_005258592.3:c.1771T>C, XM_005258592.2:c.1771T>C, XM_005258592.1:c.1771T>C, XM_005258595.4:c.1771T>C, XM_005258595.3:c.1771T>C, XM_005258595.2:c.1771T>C, XM_005258595.1:c.1771T>C, XM_005258593.3:c.1768T>C, XM_005258593.2:c.1768T>C, XM_005258593.1:c.1768T>C, XM_017026425.3:c.1768T>C, XM_017026425.2:c.1768T>C, XM_017026425.1:c.1768T>C, XM_011526593.3:c.1771T>C, XM_011526593.2:c.1771T>C, XM_011526593.1:c.1771T>C, NM_001005851.3:c.1768T>C, NM_001005851.2:c.1768T>C, XM_017026427.2:c.1768T>C, XM_017026427.1:c.1768T>C, XM_017026426.2:c.1768T>C, XM_017026426.1:c.1768T>C, XM_047438338.1:c.1771T>C, XM_047438339.1:c.1768T>C, XM_047438341.1:c.1768T>C, XM_047438340.1:c.1768T>C, XM_047438342.1:c.1768T>C, XM_047438337.1:c.1771T>C, XP_005258648.1:p.Cys591Arg, XP_005258647.1:p.Cys591Arg, XP_006723135.1:p.Cys591Arg, XP_005258649.1:p.Cys591Arg, XP_005258652.1:p.Cys591Arg, XP_005258650.1:p.Cys590Arg, XP_016881914.1:p.Cys590Arg, XP_011524895.1:p.Cys591Arg, NP_001005851.1:p.Cys590Arg, XP_016881916.1:p.Cys590Arg, XP_016881915.1:p.Cys590Arg, XP_047294294.1:p.Cys591Arg, XP_047294295.1:p.Cys590Arg, XP_047294297.1:p.Cys590Arg, XP_047294296.1:p.Cys590Arg, XP_047294298.1:p.Cys590Arg, XP_047294293.1:p.Cys591Arg

                8.

                rs1480510030 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  19:40034533 (GRCh38)
                  19:40540440 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:40034532:T:C
                  Gene:
                  ZNF780B (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by cluster
                  HGVS:
                  NC_000019.10:g.40034533T>C, NC_000019.9:g.40540440T>C, NW_009646206.1:g.309676T>C, XM_005258591.6:c.2329A>G, XM_005258591.5:c.2329A>G, XM_005258591.4:c.2329A>G, XM_005258591.3:c.2329A>G, XM_005258591.2:c.2329A>G, XM_005258591.1:c.2329A>G, XM_005258590.5:c.2329A>G, XM_005258590.4:c.2329A>G, XM_005258590.3:c.2329A>G, XM_005258590.2:c.2329A>G, XM_005258590.1:c.2329A>G, XM_006723072.5:c.2329A>G, XM_006723072.4:c.2329A>G, XM_006723072.3:c.2329A>G, XM_006723072.2:c.2329A>G, XM_006723072.1:c.2329A>G, XM_005258592.4:c.2329A>G, XM_005258592.3:c.2329A>G, XM_005258592.2:c.2329A>G, XM_005258592.1:c.2329A>G, XM_005258595.4:c.2329A>G, XM_005258595.3:c.2329A>G, XM_005258595.2:c.2329A>G, XM_005258595.1:c.2329A>G, XM_005258593.3:c.2326A>G, XM_005258593.2:c.2326A>G, XM_005258593.1:c.2326A>G, XM_017026425.3:c.2326A>G, XM_017026425.2:c.2326A>G, XM_017026425.1:c.2326A>G, XM_011526593.3:c.2329A>G, XM_011526593.2:c.2329A>G, XM_011526593.1:c.2329A>G, NM_001005851.3:c.2326A>G, NM_001005851.2:c.2326A>G, XM_017026427.2:c.2326A>G, XM_017026427.1:c.2326A>G, XM_017026426.2:c.2326A>G, XM_017026426.1:c.2326A>G, XM_047438338.1:c.2329A>G, XM_047438339.1:c.2326A>G, XM_047438341.1:c.2326A>G, XM_047438340.1:c.2326A>G, XM_047438342.1:c.2326A>G, XM_047438337.1:c.2329A>G, XP_005258648.1:p.Thr777Ala, XP_005258647.1:p.Thr777Ala, XP_006723135.1:p.Thr777Ala, XP_005258649.1:p.Thr777Ala, XP_005258652.1:p.Thr777Ala, XP_005258650.1:p.Thr776Ala, XP_016881914.1:p.Thr776Ala, XP_011524895.1:p.Thr777Ala, NP_001005851.1:p.Thr776Ala, XP_016881916.1:p.Thr776Ala, XP_016881915.1:p.Thr776Ala, XP_047294294.1:p.Thr777Ala, XP_047294295.1:p.Thr776Ala, XP_047294297.1:p.Thr776Ala, XP_047294296.1:p.Thr776Ala, XP_047294298.1:p.Thr776Ala, XP_047294293.1:p.Thr777Ala

                  9.

                  rs1477999256 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:40035147 (GRCh38)
                    19:40541054 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:40035146:T:C
                    Gene:
                    ZNF780B (Varview)
                    Functional Consequence:
                    missense_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.40035147T>C, NC_000019.9:g.40541054T>C, NW_009646206.1:g.310290T>C, XM_005258591.6:c.1715A>G, XM_005258591.5:c.1715A>G, XM_005258591.4:c.1715A>G, XM_005258591.3:c.1715A>G, XM_005258591.2:c.1715A>G, XM_005258591.1:c.1715A>G, XM_005258590.5:c.1715A>G, XM_005258590.4:c.1715A>G, XM_005258590.3:c.1715A>G, XM_005258590.2:c.1715A>G, XM_005258590.1:c.1715A>G, XM_006723072.5:c.1715A>G, XM_006723072.4:c.1715A>G, XM_006723072.3:c.1715A>G, XM_006723072.2:c.1715A>G, XM_006723072.1:c.1715A>G, XM_005258592.4:c.1715A>G, XM_005258592.3:c.1715A>G, XM_005258592.2:c.1715A>G, XM_005258592.1:c.1715A>G, XM_005258595.4:c.1715A>G, XM_005258595.3:c.1715A>G, XM_005258595.2:c.1715A>G, XM_005258595.1:c.1715A>G, XM_005258593.3:c.1712A>G, XM_005258593.2:c.1712A>G, XM_005258593.1:c.1712A>G, XM_017026425.3:c.1712A>G, XM_017026425.2:c.1712A>G, XM_017026425.1:c.1712A>G, XM_011526593.3:c.1715A>G, XM_011526593.2:c.1715A>G, XM_011526593.1:c.1715A>G, NM_001005851.3:c.1712A>G, NM_001005851.2:c.1712A>G, XM_017026427.2:c.1712A>G, XM_017026427.1:c.1712A>G, XM_017026426.2:c.1712A>G, XM_017026426.1:c.1712A>G, XM_047438338.1:c.1715A>G, XM_047438339.1:c.1712A>G, XM_047438341.1:c.1712A>G, XM_047438340.1:c.1712A>G, XM_047438342.1:c.1712A>G, XM_047438337.1:c.1715A>G, XP_005258648.1:p.Asn572Ser, XP_005258647.1:p.Asn572Ser, XP_006723135.1:p.Asn572Ser, XP_005258649.1:p.Asn572Ser, XP_005258652.1:p.Asn572Ser, XP_005258650.1:p.Asn571Ser, XP_016881914.1:p.Asn571Ser, XP_011524895.1:p.Asn572Ser, NP_001005851.1:p.Asn571Ser, XP_016881916.1:p.Asn571Ser, XP_016881915.1:p.Asn571Ser, XP_047294294.1:p.Asn572Ser, XP_047294295.1:p.Asn571Ser, XP_047294297.1:p.Asn571Ser, XP_047294296.1:p.Asn571Ser, XP_047294298.1:p.Asn571Ser, XP_047294293.1:p.Asn572Ser

                    10.

                    rs1477956869 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:40047463 (GRCh38)
                      19:40553370 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:40047462:G:A
                      Gene:
                      ZNF780B (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000019.10:g.40047463G>A, NC_000019.9:g.40553370G>A, NW_009646206.1:g.322606G>A, XM_005258591.6:c.147C>T, XM_005258591.5:c.147C>T, XM_005258591.4:c.147C>T, XM_005258591.3:c.147C>T, XM_005258591.2:c.147C>T, XM_005258591.1:c.147C>T, XM_005258590.5:c.147C>T, XM_005258590.4:c.147C>T, XM_005258590.3:c.147C>T, XM_005258590.2:c.147C>T, XM_005258590.1:c.147C>T, XM_006723072.5:c.147C>T, XM_006723072.4:c.147C>T, XM_006723072.3:c.147C>T, XM_006723072.2:c.147C>T, XM_006723072.1:c.147C>T, XM_005258592.4:c.147C>T, XM_005258592.3:c.147C>T, XM_005258592.2:c.147C>T, XM_005258592.1:c.147C>T, XM_005258595.4:c.147C>T, XM_005258595.3:c.147C>T, XM_005258595.2:c.147C>T, XM_005258595.1:c.147C>T, XM_005258593.3:c.144C>T, XM_005258593.2:c.144C>T, XM_005258593.1:c.144C>T, XM_017026425.3:c.144C>T, XM_017026425.2:c.144C>T, XM_017026425.1:c.144C>T, XM_011526593.3:c.147C>T, XM_011526593.2:c.147C>T, XM_011526593.1:c.147C>T, NM_001005851.3:c.144C>T, NM_001005851.2:c.144C>T, XM_017026427.2:c.144C>T, XM_017026427.1:c.144C>T, XM_017026426.2:c.144C>T, XM_017026426.1:c.144C>T, XM_047438339.1:c.144C>T, XM_047438341.1:c.144C>T, XM_047438342.1:c.144C>T, XM_047438340.1:c.144C>T, XM_047438337.1:c.147C>T, XM_047438338.1:c.147C>T

                      11.

                      rs1475903970 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        19:40034578 (GRCh38)
                        19:40540485 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:40034577:C:A,NC_000019.10:40034577:C:T
                        Gene:
                        ZNF780B (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000028/1 (ALFA)
                        T=0.000008/2 (GnomAD_exomes)
                        T=0.000014/2 (GnomAD)
                        T=0.000038/10 (TOPMED)
                        HGVS:
                        NC_000019.10:g.40034578C>A, NC_000019.10:g.40034578C>T, NC_000019.9:g.40540485C>A, NC_000019.9:g.40540485C>T, NW_009646206.1:g.309721C>A, NW_009646206.1:g.309721C>T, XM_005258591.6:c.2284G>T, XM_005258591.6:c.2284G>A, XM_005258591.5:c.2284G>T, XM_005258591.5:c.2284G>A, XM_005258591.4:c.2284G>T, XM_005258591.4:c.2284G>A, XM_005258591.3:c.2284G>T, XM_005258591.3:c.2284G>A, XM_005258591.2:c.2284G>T, XM_005258591.2:c.2284G>A, XM_005258591.1:c.2284G>T, XM_005258591.1:c.2284G>A, XM_005258590.5:c.2284G>T, XM_005258590.5:c.2284G>A, XM_005258590.4:c.2284G>T, XM_005258590.4:c.2284G>A, XM_005258590.3:c.2284G>T, XM_005258590.3:c.2284G>A, XM_005258590.2:c.2284G>T, XM_005258590.2:c.2284G>A, XM_005258590.1:c.2284G>T, XM_005258590.1:c.2284G>A, XM_006723072.5:c.2284G>T, XM_006723072.5:c.2284G>A, XM_006723072.4:c.2284G>T, XM_006723072.4:c.2284G>A, XM_006723072.3:c.2284G>T, XM_006723072.3:c.2284G>A, XM_006723072.2:c.2284G>T, XM_006723072.2:c.2284G>A, XM_006723072.1:c.2284G>T, XM_006723072.1:c.2284G>A, XM_005258592.4:c.2284G>T, XM_005258592.4:c.2284G>A, XM_005258592.3:c.2284G>T, XM_005258592.3:c.2284G>A, XM_005258592.2:c.2284G>T, XM_005258592.2:c.2284G>A, XM_005258592.1:c.2284G>T, XM_005258592.1:c.2284G>A, XM_005258595.4:c.2284G>T, XM_005258595.4:c.2284G>A, XM_005258595.3:c.2284G>T, XM_005258595.3:c.2284G>A, XM_005258595.2:c.2284G>T, XM_005258595.2:c.2284G>A, XM_005258595.1:c.2284G>T, XM_005258595.1:c.2284G>A, XM_005258593.3:c.2281G>T, XM_005258593.3:c.2281G>A, XM_005258593.2:c.2281G>T, XM_005258593.2:c.2281G>A, XM_005258593.1:c.2281G>T, XM_005258593.1:c.2281G>A, XM_017026425.3:c.2281G>T, XM_017026425.3:c.2281G>A, XM_017026425.2:c.2281G>T, XM_017026425.2:c.2281G>A, XM_017026425.1:c.2281G>T, XM_017026425.1:c.2281G>A, XM_011526593.3:c.2284G>T, XM_011526593.3:c.2284G>A, XM_011526593.2:c.2284G>T, XM_011526593.2:c.2284G>A, XM_011526593.1:c.2284G>T, XM_011526593.1:c.2284G>A, NM_001005851.3:c.2281G>T, NM_001005851.3:c.2281G>A, NM_001005851.2:c.2281G>T, NM_001005851.2:c.2281G>A, XM_017026427.2:c.2281G>T, XM_017026427.2:c.2281G>A, XM_017026427.1:c.2281G>T, XM_017026427.1:c.2281G>A, XM_017026426.2:c.2281G>T, XM_017026426.2:c.2281G>A, XM_017026426.1:c.2281G>T, XM_017026426.1:c.2281G>A, XM_047438339.1:c.2281G>T, XM_047438339.1:c.2281G>A, XM_047438341.1:c.2281G>T, XM_047438341.1:c.2281G>A, XM_047438342.1:c.2281G>T, XM_047438342.1:c.2281G>A, XM_047438340.1:c.2281G>T, XM_047438340.1:c.2281G>A, XM_047438337.1:c.2284G>T, XM_047438337.1:c.2284G>A, XM_047438338.1:c.2284G>T, XM_047438338.1:c.2284G>A, XP_005258648.1:p.Ala762Ser, XP_005258648.1:p.Ala762Thr, XP_005258647.1:p.Ala762Ser, XP_005258647.1:p.Ala762Thr, XP_006723135.1:p.Ala762Ser, XP_006723135.1:p.Ala762Thr, XP_005258649.1:p.Ala762Ser, XP_005258649.1:p.Ala762Thr, XP_005258652.1:p.Ala762Ser, XP_005258652.1:p.Ala762Thr, XP_005258650.1:p.Ala761Ser, XP_005258650.1:p.Ala761Thr, XP_016881914.1:p.Ala761Ser, XP_016881914.1:p.Ala761Thr, XP_011524895.1:p.Ala762Ser, XP_011524895.1:p.Ala762Thr, NP_001005851.1:p.Ala761Ser, NP_001005851.1:p.Ala761Thr, XP_016881916.1:p.Ala761Ser, XP_016881916.1:p.Ala761Thr, XP_016881915.1:p.Ala761Ser, XP_016881915.1:p.Ala761Thr, XP_047294295.1:p.Ala761Ser, XP_047294295.1:p.Ala761Thr, XP_047294297.1:p.Ala761Ser, XP_047294297.1:p.Ala761Thr, XP_047294298.1:p.Ala761Ser, XP_047294298.1:p.Ala761Thr, XP_047294296.1:p.Ala761Ser, XP_047294296.1:p.Ala761Thr, XP_047294293.1:p.Ala762Ser, XP_047294293.1:p.Ala762Thr, XP_047294294.1:p.Ala762Ser, XP_047294294.1:p.Ala762Thr

                        12.

                        rs1475584676 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C,G [Show Flanks]
                          Chromosome:
                          19:40034896 (GRCh38)
                          19:40540803 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:40034895:T:C,NC_000019.10:40034895:T:G
                          Gene:
                          ZNF780B (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          G=0.000071/1 (TOMMO)
                          HGVS:
                          NC_000019.10:g.40034896T>C, NC_000019.10:g.40034896T>G, NC_000019.9:g.40540803T>C, NC_000019.9:g.40540803T>G, NW_009646206.1:g.310039T>C, NW_009646206.1:g.310039T>G, XM_005258591.6:c.1966A>G, XM_005258591.6:c.1966A>C, XM_005258591.5:c.1966A>G, XM_005258591.5:c.1966A>C, XM_005258591.4:c.1966A>G, XM_005258591.4:c.1966A>C, XM_005258591.3:c.1966A>G, XM_005258591.3:c.1966A>C, XM_005258591.2:c.1966A>G, XM_005258591.2:c.1966A>C, XM_005258591.1:c.1966A>G, XM_005258591.1:c.1966A>C, XM_005258590.5:c.1966A>G, XM_005258590.5:c.1966A>C, XM_005258590.4:c.1966A>G, XM_005258590.4:c.1966A>C, XM_005258590.3:c.1966A>G, XM_005258590.3:c.1966A>C, XM_005258590.2:c.1966A>G, XM_005258590.2:c.1966A>C, XM_005258590.1:c.1966A>G, XM_005258590.1:c.1966A>C, XM_006723072.5:c.1966A>G, XM_006723072.5:c.1966A>C, XM_006723072.4:c.1966A>G, XM_006723072.4:c.1966A>C, XM_006723072.3:c.1966A>G, XM_006723072.3:c.1966A>C, XM_006723072.2:c.1966A>G, XM_006723072.2:c.1966A>C, XM_006723072.1:c.1966A>G, XM_006723072.1:c.1966A>C, XM_005258592.4:c.1966A>G, XM_005258592.4:c.1966A>C, XM_005258592.3:c.1966A>G, XM_005258592.3:c.1966A>C, XM_005258592.2:c.1966A>G, XM_005258592.2:c.1966A>C, XM_005258592.1:c.1966A>G, XM_005258592.1:c.1966A>C, XM_005258595.4:c.1966A>G, XM_005258595.4:c.1966A>C, XM_005258595.3:c.1966A>G, XM_005258595.3:c.1966A>C, XM_005258595.2:c.1966A>G, XM_005258595.2:c.1966A>C, XM_005258595.1:c.1966A>G, XM_005258595.1:c.1966A>C, XM_005258593.3:c.1963A>G, XM_005258593.3:c.1963A>C, XM_005258593.2:c.1963A>G, XM_005258593.2:c.1963A>C, XM_005258593.1:c.1963A>G, XM_005258593.1:c.1963A>C, XM_017026425.3:c.1963A>G, XM_017026425.3:c.1963A>C, XM_017026425.2:c.1963A>G, XM_017026425.2:c.1963A>C, XM_017026425.1:c.1963A>G, XM_017026425.1:c.1963A>C, XM_011526593.3:c.1966A>G, XM_011526593.3:c.1966A>C, XM_011526593.2:c.1966A>G, XM_011526593.2:c.1966A>C, XM_011526593.1:c.1966A>G, XM_011526593.1:c.1966A>C, NM_001005851.3:c.1963A>G, NM_001005851.3:c.1963A>C, NM_001005851.2:c.1963A>G, NM_001005851.2:c.1963A>C, XM_017026427.2:c.1963A>G, XM_017026427.2:c.1963A>C, XM_017026427.1:c.1963A>G, XM_017026427.1:c.1963A>C, XM_017026426.2:c.1963A>G, XM_017026426.2:c.1963A>C, XM_017026426.1:c.1963A>G, XM_017026426.1:c.1963A>C, XM_047438338.1:c.1966A>G, XM_047438338.1:c.1966A>C, XM_047438339.1:c.1963A>G, XM_047438339.1:c.1963A>C, XM_047438341.1:c.1963A>G, XM_047438341.1:c.1963A>C, XM_047438340.1:c.1963A>G, XM_047438340.1:c.1963A>C, XM_047438342.1:c.1963A>G, XM_047438342.1:c.1963A>C, XM_047438337.1:c.1966A>G, XM_047438337.1:c.1966A>C, XP_005258648.1:p.Asn656Asp, XP_005258648.1:p.Asn656His, XP_005258647.1:p.Asn656Asp, XP_005258647.1:p.Asn656His, XP_006723135.1:p.Asn656Asp, XP_006723135.1:p.Asn656His, XP_005258649.1:p.Asn656Asp, XP_005258649.1:p.Asn656His, XP_005258652.1:p.Asn656Asp, XP_005258652.1:p.Asn656His, XP_005258650.1:p.Asn655Asp, XP_005258650.1:p.Asn655His, XP_016881914.1:p.Asn655Asp, XP_016881914.1:p.Asn655His, XP_011524895.1:p.Asn656Asp, XP_011524895.1:p.Asn656His, NP_001005851.1:p.Asn655Asp, NP_001005851.1:p.Asn655His, XP_016881916.1:p.Asn655Asp, XP_016881916.1:p.Asn655His, XP_016881915.1:p.Asn655Asp, XP_016881915.1:p.Asn655His, XP_047294294.1:p.Asn656Asp, XP_047294294.1:p.Asn656His, XP_047294295.1:p.Asn655Asp, XP_047294295.1:p.Asn655His, XP_047294297.1:p.Asn655Asp, XP_047294297.1:p.Asn655His, XP_047294296.1:p.Asn655Asp, XP_047294296.1:p.Asn655His, XP_047294298.1:p.Asn655Asp, XP_047294298.1:p.Asn655His, XP_047294293.1:p.Asn656Asp, XP_047294293.1:p.Asn656His

                          13.

                          rs1474757097 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:40035770 (GRCh38)
                            19:40541677 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:40035769:G:A
                            Gene:
                            ZNF780B (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000019.10:g.40035770G>A, NC_000019.9:g.40541677G>A, NW_009646206.1:g.310913G>A, XM_005258591.6:c.1092C>T, XM_005258591.5:c.1092C>T, XM_005258591.4:c.1092C>T, XM_005258591.3:c.1092C>T, XM_005258591.2:c.1092C>T, XM_005258591.1:c.1092C>T, XM_005258590.5:c.1092C>T, XM_005258590.4:c.1092C>T, XM_005258590.3:c.1092C>T, XM_005258590.2:c.1092C>T, XM_005258590.1:c.1092C>T, XM_006723072.5:c.1092C>T, XM_006723072.4:c.1092C>T, XM_006723072.3:c.1092C>T, XM_006723072.2:c.1092C>T, XM_006723072.1:c.1092C>T, XM_005258592.4:c.1092C>T, XM_005258592.3:c.1092C>T, XM_005258592.2:c.1092C>T, XM_005258592.1:c.1092C>T, XM_005258595.4:c.1092C>T, XM_005258595.3:c.1092C>T, XM_005258595.2:c.1092C>T, XM_005258595.1:c.1092C>T, XM_005258593.3:c.1089C>T, XM_005258593.2:c.1089C>T, XM_005258593.1:c.1089C>T, XM_017026425.3:c.1089C>T, XM_017026425.2:c.1089C>T, XM_017026425.1:c.1089C>T, XM_011526593.3:c.1092C>T, XM_011526593.2:c.1092C>T, XM_011526593.1:c.1092C>T, NM_001005851.3:c.1089C>T, NM_001005851.2:c.1089C>T, XM_017026427.2:c.1089C>T, XM_017026427.1:c.1089C>T, XM_017026426.2:c.1089C>T, XM_017026426.1:c.1089C>T, XM_047438339.1:c.1089C>T, XM_047438341.1:c.1089C>T, XM_047438342.1:c.1089C>T, XM_047438340.1:c.1089C>T, XM_047438337.1:c.1092C>T, XM_047438338.1:c.1092C>T

                            14.

                            rs1474734240 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              19:40035469 (GRCh38)
                              19:40541376 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:40035468:AA:A
                              Gene:
                              ZNF780B (Varview)
                              Functional Consequence:
                              frameshift_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              AA=0./0 (ALFA)
                              -=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000019.10:g.40035470del, NC_000019.9:g.40541377del, NW_009646206.1:g.310613del, XM_005258591.6:c.1393del, XM_005258591.5:c.1393del, XM_005258591.4:c.1393del, XM_005258591.3:c.1393del, XM_005258591.2:c.1393del, XM_005258591.1:c.1393del, XM_005258590.5:c.1393del, XM_005258590.4:c.1393del, XM_005258590.3:c.1393del, XM_005258590.2:c.1393del, XM_005258590.1:c.1393del, XM_006723072.5:c.1393del, XM_006723072.4:c.1393del, XM_006723072.3:c.1393del, XM_006723072.2:c.1393del, XM_006723072.1:c.1393del, XM_005258592.4:c.1393del, XM_005258592.3:c.1393del, XM_005258592.2:c.1393del, XM_005258592.1:c.1393del, XM_005258595.4:c.1393del, XM_005258595.3:c.1393del, XM_005258595.2:c.1393del, XM_005258595.1:c.1393del, XM_005258593.3:c.1390del, XM_005258593.2:c.1390del, XM_005258593.1:c.1390del, XM_017026425.3:c.1390del, XM_017026425.2:c.1390del, XM_017026425.1:c.1390del, XM_011526593.3:c.1393del, XM_011526593.2:c.1393del, XM_011526593.1:c.1393del, NM_001005851.3:c.1390del, NM_001005851.2:c.1390del, XM_017026427.2:c.1390del, XM_017026427.1:c.1390del, XM_017026426.2:c.1390del, XM_017026426.1:c.1390del, XM_047438338.1:c.1393del, XM_047438339.1:c.1390del, XM_047438341.1:c.1390del, XM_047438340.1:c.1390del, XM_047438342.1:c.1390del, XM_047438337.1:c.1393del, XP_005258648.1:p.Cys465fs, XP_005258647.1:p.Cys465fs, XP_006723135.1:p.Cys465fs, XP_005258649.1:p.Cys465fs, XP_005258652.1:p.Cys465fs, XP_005258650.1:p.Cys464fs, XP_016881914.1:p.Cys464fs, XP_011524895.1:p.Cys465fs, NP_001005851.1:p.Cys464fs, XP_016881916.1:p.Cys464fs, XP_016881915.1:p.Cys464fs, XP_047294294.1:p.Cys465fs, XP_047294295.1:p.Cys464fs, XP_047294297.1:p.Cys464fs, XP_047294296.1:p.Cys464fs, XP_047294298.1:p.Cys464fs, XP_047294293.1:p.Cys465fs

                              15.

                              rs1474667240 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,T [Show Flanks]
                                Chromosome:
                                19:40034563 (GRCh38)
                                19:40540470 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:40034562:A:C,NC_000019.10:40034562:A:T
                                Gene:
                                ZNF780B (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                NC_000019.10:g.40034563A>C, NC_000019.10:g.40034563A>T, NC_000019.9:g.40540470A>C, NC_000019.9:g.40540470A>T, NW_009646206.1:g.309706A>C, NW_009646206.1:g.309706A>T, XM_005258591.6:c.2299T>G, XM_005258591.6:c.2299T>A, XM_005258591.5:c.2299T>G, XM_005258591.5:c.2299T>A, XM_005258591.4:c.2299T>G, XM_005258591.4:c.2299T>A, XM_005258591.3:c.2299T>G, XM_005258591.3:c.2299T>A, XM_005258591.2:c.2299T>G, XM_005258591.2:c.2299T>A, XM_005258591.1:c.2299T>G, XM_005258591.1:c.2299T>A, XM_005258590.5:c.2299T>G, XM_005258590.5:c.2299T>A, XM_005258590.4:c.2299T>G, XM_005258590.4:c.2299T>A, XM_005258590.3:c.2299T>G, XM_005258590.3:c.2299T>A, XM_005258590.2:c.2299T>G, XM_005258590.2:c.2299T>A, XM_005258590.1:c.2299T>G, XM_005258590.1:c.2299T>A, XM_006723072.5:c.2299T>G, XM_006723072.5:c.2299T>A, XM_006723072.4:c.2299T>G, XM_006723072.4:c.2299T>A, XM_006723072.3:c.2299T>G, XM_006723072.3:c.2299T>A, XM_006723072.2:c.2299T>G, XM_006723072.2:c.2299T>A, XM_006723072.1:c.2299T>G, XM_006723072.1:c.2299T>A, XM_005258592.4:c.2299T>G, XM_005258592.4:c.2299T>A, XM_005258592.3:c.2299T>G, XM_005258592.3:c.2299T>A, XM_005258592.2:c.2299T>G, XM_005258592.2:c.2299T>A, XM_005258592.1:c.2299T>G, XM_005258592.1:c.2299T>A, XM_005258595.4:c.2299T>G, XM_005258595.4:c.2299T>A, XM_005258595.3:c.2299T>G, XM_005258595.3:c.2299T>A, XM_005258595.2:c.2299T>G, XM_005258595.2:c.2299T>A, XM_005258595.1:c.2299T>G, XM_005258595.1:c.2299T>A, XM_005258593.3:c.2296T>G, XM_005258593.3:c.2296T>A, XM_005258593.2:c.2296T>G, XM_005258593.2:c.2296T>A, XM_005258593.1:c.2296T>G, XM_005258593.1:c.2296T>A, XM_017026425.3:c.2296T>G, XM_017026425.3:c.2296T>A, XM_017026425.2:c.2296T>G, XM_017026425.2:c.2296T>A, XM_017026425.1:c.2296T>G, XM_017026425.1:c.2296T>A, XM_011526593.3:c.2299T>G, XM_011526593.3:c.2299T>A, XM_011526593.2:c.2299T>G, XM_011526593.2:c.2299T>A, XM_011526593.1:c.2299T>G, XM_011526593.1:c.2299T>A, NM_001005851.3:c.2296T>G, NM_001005851.3:c.2296T>A, NM_001005851.2:c.2296T>G, NM_001005851.2:c.2296T>A, XM_017026427.2:c.2296T>G, XM_017026427.2:c.2296T>A, XM_017026427.1:c.2296T>G, XM_017026427.1:c.2296T>A, XM_017026426.2:c.2296T>G, XM_017026426.2:c.2296T>A, XM_017026426.1:c.2296T>G, XM_017026426.1:c.2296T>A, XM_047438338.1:c.2299T>G, XM_047438338.1:c.2299T>A, XM_047438339.1:c.2296T>G, XM_047438339.1:c.2296T>A, XM_047438341.1:c.2296T>G, XM_047438341.1:c.2296T>A, XM_047438340.1:c.2296T>G, XM_047438340.1:c.2296T>A, XM_047438342.1:c.2296T>G, XM_047438342.1:c.2296T>A, XM_047438337.1:c.2299T>G, XM_047438337.1:c.2299T>A, XP_005258648.1:p.Ser767Ala, XP_005258648.1:p.Ser767Thr, XP_005258647.1:p.Ser767Ala, XP_005258647.1:p.Ser767Thr, XP_006723135.1:p.Ser767Ala, XP_006723135.1:p.Ser767Thr, XP_005258649.1:p.Ser767Ala, XP_005258649.1:p.Ser767Thr, XP_005258652.1:p.Ser767Ala, XP_005258652.1:p.Ser767Thr, XP_005258650.1:p.Ser766Ala, XP_005258650.1:p.Ser766Thr, XP_016881914.1:p.Ser766Ala, XP_016881914.1:p.Ser766Thr, XP_011524895.1:p.Ser767Ala, XP_011524895.1:p.Ser767Thr, NP_001005851.1:p.Ser766Ala, NP_001005851.1:p.Ser766Thr, XP_016881916.1:p.Ser766Ala, XP_016881916.1:p.Ser766Thr, XP_016881915.1:p.Ser766Ala, XP_016881915.1:p.Ser766Thr, XP_047294294.1:p.Ser767Ala, XP_047294294.1:p.Ser767Thr, XP_047294295.1:p.Ser766Ala, XP_047294295.1:p.Ser766Thr, XP_047294297.1:p.Ser766Ala, XP_047294297.1:p.Ser766Thr, XP_047294296.1:p.Ser766Ala, XP_047294296.1:p.Ser766Thr, XP_047294298.1:p.Ser766Ala, XP_047294298.1:p.Ser766Thr, XP_047294293.1:p.Ser767Ala, XP_047294293.1:p.Ser767Thr

                                16.

                                rs1472828731 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:40035766 (GRCh38)
                                  19:40541673 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:40035765:C:T
                                  Gene:
                                  ZNF780B (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.40035766C>T, NC_000019.9:g.40541673C>T, NW_009646206.1:g.310909C>T, XM_005258591.6:c.1096G>A, XM_005258591.5:c.1096G>A, XM_005258591.4:c.1096G>A, XM_005258591.3:c.1096G>A, XM_005258591.2:c.1096G>A, XM_005258591.1:c.1096G>A, XM_005258590.5:c.1096G>A, XM_005258590.4:c.1096G>A, XM_005258590.3:c.1096G>A, XM_005258590.2:c.1096G>A, XM_005258590.1:c.1096G>A, XM_006723072.5:c.1096G>A, XM_006723072.4:c.1096G>A, XM_006723072.3:c.1096G>A, XM_006723072.2:c.1096G>A, XM_006723072.1:c.1096G>A, XM_005258592.4:c.1096G>A, XM_005258592.3:c.1096G>A, XM_005258592.2:c.1096G>A, XM_005258592.1:c.1096G>A, XM_005258595.4:c.1096G>A, XM_005258595.3:c.1096G>A, XM_005258595.2:c.1096G>A, XM_005258595.1:c.1096G>A, XM_005258593.3:c.1093G>A, XM_005258593.2:c.1093G>A, XM_005258593.1:c.1093G>A, XM_017026425.3:c.1093G>A, XM_017026425.2:c.1093G>A, XM_017026425.1:c.1093G>A, XM_011526593.3:c.1096G>A, XM_011526593.2:c.1096G>A, XM_011526593.1:c.1096G>A, NM_001005851.3:c.1093G>A, NM_001005851.2:c.1093G>A, XM_017026427.2:c.1093G>A, XM_017026427.1:c.1093G>A, XM_017026426.2:c.1093G>A, XM_017026426.1:c.1093G>A, XM_047438339.1:c.1093G>A, XM_047438341.1:c.1093G>A, XM_047438342.1:c.1093G>A, XM_047438340.1:c.1093G>A, XM_047438337.1:c.1096G>A, XM_047438338.1:c.1096G>A, XP_005258648.1:p.Glu366Lys, XP_005258647.1:p.Glu366Lys, XP_006723135.1:p.Glu366Lys, XP_005258649.1:p.Glu366Lys, XP_005258652.1:p.Glu366Lys, XP_005258650.1:p.Glu365Lys, XP_016881914.1:p.Glu365Lys, XP_011524895.1:p.Glu366Lys, NP_001005851.1:p.Glu365Lys, XP_016881916.1:p.Glu365Lys, XP_016881915.1:p.Glu365Lys, XP_047294295.1:p.Glu365Lys, XP_047294297.1:p.Glu365Lys, XP_047294298.1:p.Glu365Lys, XP_047294296.1:p.Glu365Lys, XP_047294293.1:p.Glu366Lys, XP_047294294.1:p.Glu366Lys

                                  17.

                                  rs1471922041 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:40035355 (GRCh38)
                                    19:40541262 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:40035354:C:T
                                    Gene:
                                    ZNF780B (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000019.10:g.40035355C>T, NC_000019.9:g.40541262C>T, NW_009646206.1:g.310498C>T, XM_005258591.6:c.1507G>A, XM_005258591.5:c.1507G>A, XM_005258591.4:c.1507G>A, XM_005258591.3:c.1507G>A, XM_005258591.2:c.1507G>A, XM_005258591.1:c.1507G>A, XM_005258590.5:c.1507G>A, XM_005258590.4:c.1507G>A, XM_005258590.3:c.1507G>A, XM_005258590.2:c.1507G>A, XM_005258590.1:c.1507G>A, XM_006723072.5:c.1507G>A, XM_006723072.4:c.1507G>A, XM_006723072.3:c.1507G>A, XM_006723072.2:c.1507G>A, XM_006723072.1:c.1507G>A, XM_005258592.4:c.1507G>A, XM_005258592.3:c.1507G>A, XM_005258592.2:c.1507G>A, XM_005258592.1:c.1507G>A, XM_005258595.4:c.1507G>A, XM_005258595.3:c.1507G>A, XM_005258595.2:c.1507G>A, XM_005258595.1:c.1507G>A, XM_005258593.3:c.1504G>A, XM_005258593.2:c.1504G>A, XM_005258593.1:c.1504G>A, XM_017026425.3:c.1504G>A, XM_017026425.2:c.1504G>A, XM_017026425.1:c.1504G>A, XM_011526593.3:c.1507G>A, XM_011526593.2:c.1507G>A, XM_011526593.1:c.1507G>A, NM_001005851.3:c.1504G>A, NM_001005851.2:c.1504G>A, XM_017026427.2:c.1504G>A, XM_017026427.1:c.1504G>A, XM_017026426.2:c.1504G>A, XM_017026426.1:c.1504G>A, XM_047438338.1:c.1507G>A, XM_047438339.1:c.1504G>A, XM_047438341.1:c.1504G>A, XM_047438340.1:c.1504G>A, XM_047438342.1:c.1504G>A, XM_047438337.1:c.1507G>A, XP_005258648.1:p.Glu503Lys, XP_005258647.1:p.Glu503Lys, XP_006723135.1:p.Glu503Lys, XP_005258649.1:p.Glu503Lys, XP_005258652.1:p.Glu503Lys, XP_005258650.1:p.Glu502Lys, XP_016881914.1:p.Glu502Lys, XP_011524895.1:p.Glu503Lys, NP_001005851.1:p.Glu502Lys, XP_016881916.1:p.Glu502Lys, XP_016881915.1:p.Glu502Lys, XP_047294294.1:p.Glu503Lys, XP_047294295.1:p.Glu502Lys, XP_047294297.1:p.Glu502Lys, XP_047294296.1:p.Glu502Lys, XP_047294298.1:p.Glu502Lys, XP_047294293.1:p.Glu503Lys

                                    18.

                                    rs1471047382 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TG>- [Show Flanks]
                                      Chromosome:
                                      19:40034985 (GRCh38)
                                      19:40540892 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:40034981:GTGTG:GTG
                                      Gene:
                                      ZNF780B (Varview)
                                      Functional Consequence:
                                      frameshift_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      -=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000019.10:g.40034983TG[1], NC_000019.9:g.40540890TG[1], NW_009646206.1:g.310126TG[1], XM_005258591.6:c.1879_1880del, XM_005258591.5:c.1879_1880del, XM_005258591.4:c.1879_1880del, XM_005258591.3:c.1879_1880del, XM_005258591.2:c.1879_1880del, XM_005258591.1:c.1879_1880del, XM_005258590.5:c.1879_1880del, XM_005258590.4:c.1879_1880del, XM_005258590.3:c.1879_1880del, XM_005258590.2:c.1879_1880del, XM_005258590.1:c.1879_1880del, XM_006723072.5:c.1879_1880del, XM_006723072.4:c.1879_1880del, XM_006723072.3:c.1879_1880del, XM_006723072.2:c.1879_1880del, XM_006723072.1:c.1879_1880del, XM_005258592.4:c.1879_1880del, XM_005258592.3:c.1879_1880del, XM_005258592.2:c.1879_1880del, XM_005258592.1:c.1879_1880del, XM_005258595.4:c.1879_1880del, XM_005258595.3:c.1879_1880del, XM_005258595.2:c.1879_1880del, XM_005258595.1:c.1879_1880del, XM_005258593.3:c.1876_1877del, XM_005258593.2:c.1876_1877del, XM_005258593.1:c.1876_1877del, XM_017026425.3:c.1876_1877del, XM_017026425.2:c.1876_1877del, XM_017026425.1:c.1876_1877del, XM_011526593.3:c.1879_1880del, XM_011526593.2:c.1879_1880del, XM_011526593.1:c.1879_1880del, NM_001005851.3:c.1876_1877del, NM_001005851.2:c.1876_1877del, XM_017026427.2:c.1876_1877del, XM_017026427.1:c.1876_1877del, XM_017026426.2:c.1876_1877del, XM_017026426.1:c.1876_1877del, XM_047438338.1:c.1879_1880del, XM_047438339.1:c.1876_1877del, XM_047438341.1:c.1876_1877del, XM_047438340.1:c.1876_1877del, XM_047438342.1:c.1876_1877del, XM_047438337.1:c.1879_1880del, XP_005258648.1:p.Thr627fs, XP_005258647.1:p.Thr627fs, XP_006723135.1:p.Thr627fs, XP_005258649.1:p.Thr627fs, XP_005258652.1:p.Thr627fs, XP_005258650.1:p.Thr626fs, XP_016881914.1:p.Thr626fs, XP_011524895.1:p.Thr627fs, NP_001005851.1:p.Thr626fs, XP_016881916.1:p.Thr626fs, XP_016881915.1:p.Thr626fs, XP_047294294.1:p.Thr627fs, XP_047294295.1:p.Thr626fs, XP_047294297.1:p.Thr626fs, XP_047294296.1:p.Thr626fs, XP_047294298.1:p.Thr626fs, XP_047294293.1:p.Thr627fs

                                      19.

                                      rs1468432584 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        19:40035611 (GRCh38)
                                        19:40541518 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:40035610:T:C
                                        Gene:
                                        ZNF780B (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)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000019.10:g.40035611T>C, NC_000019.9:g.40541518T>C, NW_009646206.1:g.310754T>C, XM_005258591.6:c.1251A>G, XM_005258591.5:c.1251A>G, XM_005258591.4:c.1251A>G, XM_005258591.3:c.1251A>G, XM_005258591.2:c.1251A>G, XM_005258591.1:c.1251A>G, XM_005258590.5:c.1251A>G, XM_005258590.4:c.1251A>G, XM_005258590.3:c.1251A>G, XM_005258590.2:c.1251A>G, XM_005258590.1:c.1251A>G, XM_006723072.5:c.1251A>G, XM_006723072.4:c.1251A>G, XM_006723072.3:c.1251A>G, XM_006723072.2:c.1251A>G, XM_006723072.1:c.1251A>G, XM_005258592.4:c.1251A>G, XM_005258592.3:c.1251A>G, XM_005258592.2:c.1251A>G, XM_005258592.1:c.1251A>G, XM_005258595.4:c.1251A>G, XM_005258595.3:c.1251A>G, XM_005258595.2:c.1251A>G, XM_005258595.1:c.1251A>G, XM_005258593.3:c.1248A>G, XM_005258593.2:c.1248A>G, XM_005258593.1:c.1248A>G, XM_017026425.3:c.1248A>G, XM_017026425.2:c.1248A>G, XM_017026425.1:c.1248A>G, XM_011526593.3:c.1251A>G, XM_011526593.2:c.1251A>G, XM_011526593.1:c.1251A>G, NM_001005851.3:c.1248A>G, NM_001005851.2:c.1248A>G, XM_017026427.2:c.1248A>G, XM_017026427.1:c.1248A>G, XM_017026426.2:c.1248A>G, XM_017026426.1:c.1248A>G, XM_047438338.1:c.1251A>G, XM_047438339.1:c.1248A>G, XM_047438341.1:c.1248A>G, XM_047438340.1:c.1248A>G, XM_047438342.1:c.1248A>G, XM_047438337.1:c.1251A>G

                                        20.

                                        rs1466867556 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          19:40035746 (GRCh38)
                                          19:40541653 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:40035745:A:G
                                          Gene:
                                          ZNF780B (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000049/13 (TOPMED)
                                          HGVS:
                                          NC_000019.10:g.40035746A>G, NC_000019.9:g.40541653A>G, NW_009646206.1:g.310889A>G, XM_005258591.6:c.1116T>C, XM_005258591.5:c.1116T>C, XM_005258591.4:c.1116T>C, XM_005258591.3:c.1116T>C, XM_005258591.2:c.1116T>C, XM_005258591.1:c.1116T>C, XM_005258590.5:c.1116T>C, XM_005258590.4:c.1116T>C, XM_005258590.3:c.1116T>C, XM_005258590.2:c.1116T>C, XM_005258590.1:c.1116T>C, XM_006723072.5:c.1116T>C, XM_006723072.4:c.1116T>C, XM_006723072.3:c.1116T>C, XM_006723072.2:c.1116T>C, XM_006723072.1:c.1116T>C, XM_005258592.4:c.1116T>C, XM_005258592.3:c.1116T>C, XM_005258592.2:c.1116T>C, XM_005258592.1:c.1116T>C, XM_005258595.4:c.1116T>C, XM_005258595.3:c.1116T>C, XM_005258595.2:c.1116T>C, XM_005258595.1:c.1116T>C, XM_005258593.3:c.1113T>C, XM_005258593.2:c.1113T>C, XM_005258593.1:c.1113T>C, XM_017026425.3:c.1113T>C, XM_017026425.2:c.1113T>C, XM_017026425.1:c.1113T>C, XM_011526593.3:c.1116T>C, XM_011526593.2:c.1116T>C, XM_011526593.1:c.1116T>C, NM_001005851.3:c.1113T>C, NM_001005851.2:c.1113T>C, XM_017026427.2:c.1113T>C, XM_017026427.1:c.1113T>C, XM_017026426.2:c.1113T>C, XM_017026426.1:c.1113T>C, XM_047438338.1:c.1116T>C, XM_047438339.1:c.1113T>C, XM_047438341.1:c.1113T>C, XM_047438340.1:c.1113T>C, XM_047438342.1:c.1113T>C, XM_047438337.1:c.1116T>C

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