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Items: 1 to 20 of 677

1.

rs1489784924 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    22:36141344 (GRCh38)
    22:36537392 (GRCh37)
    Canonical SPDI:
    NC_000022.11:36141343:G:T
    Gene:
    APOL3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.00005/1 (ALFA)
    HGVS:
    NC_000022.11:g.36141344G>T, NC_000022.10:g.36537392G>T, NM_145641.3:c.465C>A, NM_145641.2:c.465C>A, NM_145642.3:c.465C>A, NM_145642.2:c.465C>A, NM_014349.3:c.852C>A, NM_014349.2:c.852C>A, NM_014349.1:c.852C>A, XM_017028949.2:c.855C>A, XM_017028949.1:c.855C>A, NM_030644.2:c.852C>A, NM_030644.1:c.852C>A, NM_145640.2:c.1065C>A, NM_145639.2:c.852C>A, NM_145639.1:c.852C>A, XM_047441506.1:c.855C>A, XM_047441508.1:c.852C>A, NM_001393587.1:c.855C>A, NM_001393598.1:c.852C>A, NM_001393596.1:c.852C>A, NR_027833.1:n.1429C>A, XM_047441507.1:c.855C>A, NM_001393601.1:c.852C>A, NM_001393597.1:c.852C>A, NR_027834.1:n.1313C>A, NM_001393606.1:c.465C>A, NM_001393604.1:c.852C>A, NM_001393592.1:c.855C>A, NM_001393603.1:c.852C>A, NM_001393590.1:c.855C>A, NR_027835.1:n.1200C>A, NM_001393595.1:c.852C>A, NM_001393602.1:c.852C>A, NM_001393588.1:c.855C>A, NM_001393593.1:c.852C>A, NM_001393599.1:c.852C>A, NM_001393589.1:c.855C>A, NM_001393600.1:c.852C>A, NM_001393591.1:c.855C>A, NM_001393608.1:c.465C>A, NM_001393605.1:c.810C>A, NM_001393609.1:c.465C>A, NM_001393607.1:c.465C>A, NP_663616.1:p.Asn155Lys, NP_663617.1:p.Asn155Lys, NP_055164.1:p.Asn284Lys, XP_016884438.1:p.Asn285Lys, NP_085147.1:p.Asn284Lys, NP_663615.1:p.Asn355Lys, NP_663614.1:p.Asn284Lys, XP_047297462.1:p.Asn285Lys, XP_047297464.1:p.Asn284Lys, NP_001380516.1:p.Asn285Lys, NP_001380527.1:p.Asn284Lys, NP_001380525.1:p.Asn284Lys, XP_047297463.1:p.Asn285Lys, NP_001380530.1:p.Asn284Lys, NP_001380526.1:p.Asn284Lys, NP_001380535.1:p.Asn155Lys, NP_001380533.1:p.Asn284Lys, NP_001380521.1:p.Asn285Lys, NP_001380532.1:p.Asn284Lys, NP_001380519.1:p.Asn285Lys, NP_001380524.1:p.Asn284Lys, NP_001380531.1:p.Asn284Lys, NP_001380517.1:p.Asn285Lys, NP_001380522.1:p.Asn284Lys, NP_001380528.1:p.Asn284Lys, NP_001380518.1:p.Asn285Lys, NP_001380529.1:p.Asn284Lys, NP_001380520.1:p.Asn285Lys, NP_001380537.1:p.Asn155Lys, NP_001380534.1:p.Asn270Lys, NP_001380538.1:p.Asn155Lys, NP_001380536.1:p.Asn155Lys
    2.

    rs1489405872 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      22:36141532 (GRCh38)
      22:36537580 (GRCh37)
      Canonical SPDI:
      NC_000022.11:36141531:T:C
      Gene:
      APOL3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000011/3 (TOPMED)
      HGVS:
      NC_000022.11:g.36141532T>C, NC_000022.10:g.36537580T>C, NM_145641.3:c.277A>G, NM_145641.2:c.277A>G, NM_145642.3:c.277A>G, NM_145642.2:c.277A>G, NM_014349.3:c.664A>G, NM_014349.2:c.664A>G, NM_014349.1:c.664A>G, XM_017028949.2:c.667A>G, XM_017028949.1:c.667A>G, NM_030644.2:c.664A>G, NM_030644.1:c.664A>G, NM_145640.2:c.877A>G, NM_145639.2:c.664A>G, NM_145639.1:c.664A>G, XM_047441506.1:c.667A>G, XM_047441508.1:c.664A>G, NM_001393587.1:c.667A>G, NM_001393598.1:c.664A>G, NM_001393596.1:c.664A>G, NR_027833.1:n.1241A>G, XM_047441507.1:c.667A>G, NM_001393601.1:c.664A>G, NM_001393597.1:c.664A>G, NR_027834.1:n.1125A>G, NM_001393606.1:c.277A>G, NM_001393604.1:c.664A>G, NM_001393592.1:c.667A>G, NM_001393603.1:c.664A>G, NM_001393590.1:c.667A>G, NR_027835.1:n.1012A>G, NM_001393595.1:c.664A>G, NM_001393602.1:c.664A>G, NM_001393588.1:c.667A>G, NM_001393593.1:c.664A>G, NM_001393599.1:c.664A>G, NM_001393589.1:c.667A>G, NM_001393600.1:c.664A>G, NM_001393591.1:c.667A>G, NM_001393608.1:c.277A>G, NM_001393605.1:c.622A>G, NM_001393609.1:c.277A>G, NM_001393607.1:c.277A>G, NP_663616.1:p.Ser93Gly, NP_663617.1:p.Ser93Gly, NP_055164.1:p.Ser222Gly, XP_016884438.1:p.Ser223Gly, NP_085147.1:p.Ser222Gly, NP_663615.1:p.Ser293Gly, NP_663614.1:p.Ser222Gly, XP_047297462.1:p.Ser223Gly, XP_047297464.1:p.Ser222Gly, NP_001380516.1:p.Ser223Gly, NP_001380527.1:p.Ser222Gly, NP_001380525.1:p.Ser222Gly, XP_047297463.1:p.Ser223Gly, NP_001380530.1:p.Ser222Gly, NP_001380526.1:p.Ser222Gly, NP_001380535.1:p.Ser93Gly, NP_001380533.1:p.Ser222Gly, NP_001380521.1:p.Ser223Gly, NP_001380532.1:p.Ser222Gly, NP_001380519.1:p.Ser223Gly, NP_001380524.1:p.Ser222Gly, NP_001380531.1:p.Ser222Gly, NP_001380517.1:p.Ser223Gly, NP_001380522.1:p.Ser222Gly, NP_001380528.1:p.Ser222Gly, NP_001380518.1:p.Ser223Gly, NP_001380529.1:p.Ser222Gly, NP_001380520.1:p.Ser223Gly, NP_001380537.1:p.Ser93Gly, NP_001380534.1:p.Ser208Gly, NP_001380538.1:p.Ser93Gly, NP_001380536.1:p.Ser93Gly
      4.

      rs1485151769 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        22:36141069 (GRCh38)
        22:36537117 (GRCh37)
        Canonical SPDI:
        NC_000022.11:36141068:G:A,NC_000022.11:36141068:G:C
        Gene:
        APOL3 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        HGVS:
        NC_000022.11:g.36141069G>A, NC_000022.11:g.36141069G>C, NC_000022.10:g.36537117G>A, NC_000022.10:g.36537117G>C, NM_145641.3:c.*131C>T, NM_145641.3:c.*131C>G, NM_145641.2:c.*131C>T, NM_145641.2:c.*131C>G, NM_145642.3:c.*131C>T, NM_145642.3:c.*131C>G, NM_145642.2:c.*131C>T, NM_145642.2:c.*131C>G, NM_014349.3:c.*131C>T, NM_014349.3:c.*131C>G, NM_014349.2:c.*131C>T, NM_014349.2:c.*131C>G, NM_014349.1:c.*131C>T, NM_014349.1:c.*131C>G, XM_017028949.2:c.*131C>T, XM_017028949.2:c.*131C>G, XM_017028949.1:c.*131C>T, XM_017028949.1:c.*131C>G, NM_030644.2:c.*131C>T, NM_030644.2:c.*131C>G, NM_030644.1:c.*131C>T, NM_030644.1:c.*131C>G, NM_145640.2:c.*131C>T, NM_145640.2:c.*131C>G, NM_145639.2:c.*131C>T, NM_145639.2:c.*131C>G, NM_145639.1:c.*131C>T, NM_145639.1:c.*131C>G, XM_047441506.1:c.*131C>T, XM_047441506.1:c.*131C>G, XM_047441508.1:c.*131C>T, XM_047441508.1:c.*131C>G, NM_001393587.1:c.*131C>T, NM_001393587.1:c.*131C>G, NM_001393598.1:c.*131C>T, NM_001393598.1:c.*131C>G, NM_001393596.1:c.*131C>T, NM_001393596.1:c.*131C>G, NR_027833.1:n.1704C>T, NR_027833.1:n.1704C>G, XM_047441507.1:c.*131C>T, XM_047441507.1:c.*131C>G, NM_001393601.1:c.*131C>T, NM_001393601.1:c.*131C>G, NM_001393597.1:c.*131C>T, NM_001393597.1:c.*131C>G, NR_027834.1:n.1588C>T, NR_027834.1:n.1588C>G, NM_001393606.1:c.*131C>T, NM_001393606.1:c.*131C>G, NM_001393604.1:c.*131C>T, NM_001393604.1:c.*131C>G, NM_001393592.1:c.*131C>T, NM_001393592.1:c.*131C>G, NM_001393603.1:c.*131C>T, NM_001393603.1:c.*131C>G, NM_001393590.1:c.*131C>T, NM_001393590.1:c.*131C>G, NR_027835.1:n.1475C>T, NR_027835.1:n.1475C>G, NM_001393595.1:c.*131C>T, NM_001393595.1:c.*131C>G, NM_001393602.1:c.*131C>T, NM_001393602.1:c.*131C>G, NM_001393588.1:c.*131C>T, NM_001393588.1:c.*131C>G, NM_001393593.1:c.*131C>T, NM_001393593.1:c.*131C>G, NM_001393599.1:c.*131C>T, NM_001393599.1:c.*131C>G, NM_001393589.1:c.*131C>T, NM_001393589.1:c.*131C>G, NM_001393600.1:c.*131C>T, NM_001393600.1:c.*131C>G, NM_001393591.1:c.*131C>T, NM_001393591.1:c.*131C>G, NM_001393608.1:c.*131C>T, NM_001393608.1:c.*131C>G, NM_001393605.1:c.*131C>T, NM_001393605.1:c.*131C>G, NM_001393609.1:c.*131C>T, NM_001393609.1:c.*131C>G, NM_001393607.1:c.*131C>T, NM_001393607.1:c.*131C>G
        6.

        rs1482458769 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          22:36141600 (GRCh38)
          22:36537648 (GRCh37)
          Canonical SPDI:
          NC_000022.11:36141599:A:G
          Gene:
          APOL3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000022.11:g.36141600A>G, NC_000022.10:g.36537648A>G, NM_145641.3:c.209T>C, NM_145641.2:c.209T>C, NM_145642.3:c.209T>C, NM_145642.2:c.209T>C, NM_014349.3:c.596T>C, NM_014349.2:c.596T>C, NM_014349.1:c.596T>C, XM_017028949.2:c.599T>C, XM_017028949.1:c.599T>C, NM_030644.2:c.596T>C, NM_030644.1:c.596T>C, NM_145640.2:c.809T>C, NM_145639.2:c.596T>C, NM_145639.1:c.596T>C, XM_047441506.1:c.599T>C, XM_047441508.1:c.596T>C, NM_001393587.1:c.599T>C, NM_001393598.1:c.596T>C, NM_001393596.1:c.596T>C, NR_027833.1:n.1173T>C, XM_047441507.1:c.599T>C, NM_001393601.1:c.596T>C, NM_001393597.1:c.596T>C, NR_027834.1:n.1057T>C, NM_001393606.1:c.209T>C, NM_001393604.1:c.596T>C, NM_001393592.1:c.599T>C, NM_001393603.1:c.596T>C, NM_001393590.1:c.599T>C, NR_027835.1:n.944T>C, NM_001393595.1:c.596T>C, NM_001393602.1:c.596T>C, NM_001393588.1:c.599T>C, NM_001393593.1:c.596T>C, NM_001393599.1:c.596T>C, NM_001393589.1:c.599T>C, NM_001393600.1:c.596T>C, NM_001393591.1:c.599T>C, NM_001393608.1:c.209T>C, NM_001393605.1:c.554T>C, NM_001393609.1:c.209T>C, NM_001393607.1:c.209T>C, NP_663616.1:p.Met70Thr, NP_663617.1:p.Met70Thr, NP_055164.1:p.Met199Thr, XP_016884438.1:p.Met200Thr, NP_085147.1:p.Met199Thr, NP_663615.1:p.Met270Thr, NP_663614.1:p.Met199Thr, XP_047297462.1:p.Met200Thr, XP_047297464.1:p.Met199Thr, NP_001380516.1:p.Met200Thr, NP_001380527.1:p.Met199Thr, NP_001380525.1:p.Met199Thr, XP_047297463.1:p.Met200Thr, NP_001380530.1:p.Met199Thr, NP_001380526.1:p.Met199Thr, NP_001380535.1:p.Met70Thr, NP_001380533.1:p.Met199Thr, NP_001380521.1:p.Met200Thr, NP_001380532.1:p.Met199Thr, NP_001380519.1:p.Met200Thr, NP_001380524.1:p.Met199Thr, NP_001380531.1:p.Met199Thr, NP_001380517.1:p.Met200Thr, NP_001380522.1:p.Met199Thr, NP_001380528.1:p.Met199Thr, NP_001380518.1:p.Met200Thr, NP_001380529.1:p.Met199Thr, NP_001380520.1:p.Met200Thr, NP_001380537.1:p.Met70Thr, NP_001380534.1:p.Met185Thr, NP_001380538.1:p.Met70Thr, NP_001380536.1:p.Met70Thr
          7.

          rs1482353899 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            22:36141262 (GRCh38)
            22:36537310 (GRCh37)
            Canonical SPDI:
            NC_000022.11:36141261:C:T
            Gene:
            APOL3 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000022.11:g.36141262C>T, NC_000022.10:g.36537310C>T, NM_145641.3:c.547G>A, NM_145641.2:c.547G>A, NM_145642.3:c.547G>A, NM_145642.2:c.547G>A, NM_014349.3:c.934G>A, NM_014349.2:c.934G>A, NM_014349.1:c.934G>A, XM_017028949.2:c.937G>A, XM_017028949.1:c.937G>A, NM_030644.2:c.934G>A, NM_030644.1:c.934G>A, NM_145640.2:c.1147G>A, NM_145639.2:c.934G>A, NM_145639.1:c.934G>A, XM_047441506.1:c.937G>A, XM_047441508.1:c.934G>A, NM_001393587.1:c.937G>A, NM_001393598.1:c.934G>A, NM_001393596.1:c.934G>A, NR_027833.1:n.1511G>A, XM_047441507.1:c.937G>A, NM_001393601.1:c.934G>A, NM_001393597.1:c.934G>A, NR_027834.1:n.1395G>A, NM_001393606.1:c.547G>A, NM_001393604.1:c.934G>A, NM_001393592.1:c.937G>A, NM_001393603.1:c.934G>A, NM_001393590.1:c.937G>A, NR_027835.1:n.1282G>A, NM_001393595.1:c.934G>A, NM_001393602.1:c.934G>A, NM_001393588.1:c.937G>A, NM_001393593.1:c.934G>A, NM_001393599.1:c.934G>A, NM_001393589.1:c.937G>A, NM_001393600.1:c.934G>A, NM_001393591.1:c.937G>A, NM_001393608.1:c.547G>A, NM_001393605.1:c.892G>A, NM_001393609.1:c.547G>A, NM_001393607.1:c.547G>A, NP_663616.1:p.Glu183Lys, NP_663617.1:p.Glu183Lys, NP_055164.1:p.Glu312Lys, XP_016884438.1:p.Glu313Lys, NP_085147.1:p.Glu312Lys, NP_663615.1:p.Glu383Lys, NP_663614.1:p.Glu312Lys, XP_047297462.1:p.Glu313Lys, XP_047297464.1:p.Glu312Lys, NP_001380516.1:p.Glu313Lys, NP_001380527.1:p.Glu312Lys, NP_001380525.1:p.Glu312Lys, XP_047297463.1:p.Glu313Lys, NP_001380530.1:p.Glu312Lys, NP_001380526.1:p.Glu312Lys, NP_001380535.1:p.Glu183Lys, NP_001380533.1:p.Glu312Lys, NP_001380521.1:p.Glu313Lys, NP_001380532.1:p.Glu312Lys, NP_001380519.1:p.Glu313Lys, NP_001380524.1:p.Glu312Lys, NP_001380531.1:p.Glu312Lys, NP_001380517.1:p.Glu313Lys, NP_001380522.1:p.Glu312Lys, NP_001380528.1:p.Glu312Lys, NP_001380518.1:p.Glu313Lys, NP_001380529.1:p.Glu312Lys, NP_001380520.1:p.Glu313Lys, NP_001380537.1:p.Glu183Lys, NP_001380534.1:p.Glu298Lys, NP_001380538.1:p.Glu183Lys, NP_001380536.1:p.Glu183Lys
            8.

            rs1482258844 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              22:36140779 (GRCh38)
              22:36536827 (GRCh37)
              Canonical SPDI:
              NC_000022.11:36140778:G:A,NC_000022.11:36140778:G:C
              Gene:
              APOL3 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000021/3 (GnomAD)
              A=0.000142/2 (TOMMO)
              A=0.000342/1 (KOREAN)
              HGVS:
              NC_000022.11:g.36140779G>A, NC_000022.11:g.36140779G>C, NC_000022.10:g.36536827G>A, NC_000022.10:g.36536827G>C, NM_145641.3:c.*421C>T, NM_145641.3:c.*421C>G, NM_145641.2:c.*421C>T, NM_145641.2:c.*421C>G, NM_145642.3:c.*421C>T, NM_145642.3:c.*421C>G, NM_145642.2:c.*421C>T, NM_145642.2:c.*421C>G, NM_014349.3:c.*421C>T, NM_014349.3:c.*421C>G, NM_014349.2:c.*421C>T, NM_014349.2:c.*421C>G, NM_014349.1:c.*421C>T, NM_014349.1:c.*421C>G, XM_017028949.2:c.*421C>T, XM_017028949.2:c.*421C>G, XM_017028949.1:c.*421C>T, XM_017028949.1:c.*421C>G, NM_030644.2:c.*421C>T, NM_030644.2:c.*421C>G, NM_030644.1:c.*421C>T, NM_030644.1:c.*421C>G, NM_145640.2:c.*421C>T, NM_145640.2:c.*421C>G, NM_145639.2:c.*421C>T, NM_145639.2:c.*421C>G, NM_145639.1:c.*421C>T, NM_145639.1:c.*421C>G, XM_047441506.1:c.*421C>T, XM_047441506.1:c.*421C>G, XM_047441508.1:c.*421C>T, XM_047441508.1:c.*421C>G, NM_001393587.1:c.*421C>T, NM_001393587.1:c.*421C>G, NM_001393598.1:c.*421C>T, NM_001393598.1:c.*421C>G, NM_001393596.1:c.*421C>T, NM_001393596.1:c.*421C>G, NR_027833.1:n.1994C>T, NR_027833.1:n.1994C>G, XM_047441507.1:c.*421C>T, XM_047441507.1:c.*421C>G, NM_001393601.1:c.*421C>T, NM_001393601.1:c.*421C>G, NM_001393597.1:c.*421C>T, NM_001393597.1:c.*421C>G, NR_027834.1:n.1878C>T, NR_027834.1:n.1878C>G, NM_001393606.1:c.*421C>T, NM_001393606.1:c.*421C>G, NM_001393604.1:c.*421C>T, NM_001393604.1:c.*421C>G, NM_001393592.1:c.*421C>T, NM_001393592.1:c.*421C>G, NM_001393603.1:c.*421C>T, NM_001393603.1:c.*421C>G, NM_001393590.1:c.*421C>T, NM_001393590.1:c.*421C>G, NR_027835.1:n.1765C>T, NR_027835.1:n.1765C>G, NM_001393595.1:c.*421C>T, NM_001393595.1:c.*421C>G, NM_001393602.1:c.*421C>T, NM_001393602.1:c.*421C>G, NM_001393588.1:c.*421C>T, NM_001393588.1:c.*421C>G, NM_001393593.1:c.*421C>T, NM_001393593.1:c.*421C>G, NM_001393599.1:c.*421C>T, NM_001393599.1:c.*421C>G, NM_001393589.1:c.*421C>T, NM_001393589.1:c.*421C>G, NM_001393600.1:c.*421C>T, NM_001393600.1:c.*421C>G, NM_001393591.1:c.*421C>T, NM_001393591.1:c.*421C>G, NM_001393608.1:c.*421C>T, NM_001393608.1:c.*421C>G, NM_001393605.1:c.*421C>T, NM_001393605.1:c.*421C>G, NM_001393609.1:c.*421C>T, NM_001393609.1:c.*421C>G, NM_001393607.1:c.*421C>T, NM_001393607.1:c.*421C>G
              9.

              rs1481510821 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                22:36141217 (GRCh38)
                22:36537265 (GRCh37)
                Canonical SPDI:
                NC_000022.11:36141216:G:A
                Gene:
                APOL3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000012/3 (GnomAD_exomes)
                HGVS:
                NC_000022.11:g.36141217G>A, NC_000022.10:g.36537265G>A, NM_145641.3:c.592C>T, NM_145641.2:c.592C>T, NM_145642.3:c.592C>T, NM_145642.2:c.592C>T, NM_014349.3:c.979C>T, NM_014349.2:c.979C>T, NM_014349.1:c.979C>T, XM_017028949.2:c.982C>T, XM_017028949.1:c.982C>T, NM_030644.2:c.979C>T, NM_030644.1:c.979C>T, NM_145640.2:c.1192C>T, NM_145639.2:c.979C>T, NM_145639.1:c.979C>T, XM_047441506.1:c.982C>T, XM_047441508.1:c.979C>T, NM_001393587.1:c.982C>T, NM_001393598.1:c.979C>T, NM_001393596.1:c.979C>T, NR_027833.1:n.1556C>T, XM_047441507.1:c.982C>T, NM_001393601.1:c.979C>T, NM_001393597.1:c.979C>T, NR_027834.1:n.1440C>T, NM_001393606.1:c.592C>T, NM_001393604.1:c.979C>T, NM_001393592.1:c.982C>T, NM_001393603.1:c.979C>T, NM_001393590.1:c.982C>T, NR_027835.1:n.1327C>T, NM_001393595.1:c.979C>T, NM_001393602.1:c.979C>T, NM_001393588.1:c.982C>T, NM_001393593.1:c.979C>T, NM_001393599.1:c.979C>T, NM_001393589.1:c.982C>T, NM_001393600.1:c.979C>T, NM_001393591.1:c.982C>T, NM_001393608.1:c.592C>T, NM_001393605.1:c.937C>T, NM_001393609.1:c.592C>T, NM_001393607.1:c.592C>T, NP_663616.1:p.Pro198Ser, NP_663617.1:p.Pro198Ser, NP_055164.1:p.Pro327Ser, XP_016884438.1:p.Pro328Ser, NP_085147.1:p.Pro327Ser, NP_663615.1:p.Pro398Ser, NP_663614.1:p.Pro327Ser, XP_047297462.1:p.Pro328Ser, XP_047297464.1:p.Pro327Ser, NP_001380516.1:p.Pro328Ser, NP_001380527.1:p.Pro327Ser, NP_001380525.1:p.Pro327Ser, XP_047297463.1:p.Pro328Ser, NP_001380530.1:p.Pro327Ser, NP_001380526.1:p.Pro327Ser, NP_001380535.1:p.Pro198Ser, NP_001380533.1:p.Pro327Ser, NP_001380521.1:p.Pro328Ser, NP_001380532.1:p.Pro327Ser, NP_001380519.1:p.Pro328Ser, NP_001380524.1:p.Pro327Ser, NP_001380531.1:p.Pro327Ser, NP_001380517.1:p.Pro328Ser, NP_001380522.1:p.Pro327Ser, NP_001380528.1:p.Pro327Ser, NP_001380518.1:p.Pro328Ser, NP_001380529.1:p.Pro327Ser, NP_001380520.1:p.Pro328Ser, NP_001380537.1:p.Pro198Ser, NP_001380534.1:p.Pro313Ser, NP_001380538.1:p.Pro198Ser, NP_001380536.1:p.Pro198Ser
                14.

                rs1472749450 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  22:36141163 (GRCh38)
                  22:36537211 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:36141162:A:C,NC_000022.11:36141162:A:G
                  Gene:
                  APOL3 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000022.11:g.36141163A>C, NC_000022.11:g.36141163A>G, NC_000022.10:g.36537211A>C, NC_000022.10:g.36537211A>G, NM_145641.3:c.*37T>G, NM_145641.3:c.*37T>C, NM_145641.2:c.*37T>G, NM_145641.2:c.*37T>C, NM_145642.3:c.*37T>G, NM_145642.3:c.*37T>C, NM_145642.2:c.*37T>G, NM_145642.2:c.*37T>C, NM_014349.3:c.*37T>G, NM_014349.3:c.*37T>C, NM_014349.2:c.*37T>G, NM_014349.2:c.*37T>C, NM_014349.1:c.*37T>G, NM_014349.1:c.*37T>C, XM_017028949.2:c.*37T>G, XM_017028949.2:c.*37T>C, XM_017028949.1:c.*37T>G, XM_017028949.1:c.*37T>C, NM_030644.2:c.*37T>G, NM_030644.2:c.*37T>C, NM_030644.1:c.*37T>G, NM_030644.1:c.*37T>C, NM_145640.2:c.*37T>G, NM_145640.2:c.*37T>C, NM_145639.2:c.*37T>G, NM_145639.2:c.*37T>C, NM_145639.1:c.*37T>G, NM_145639.1:c.*37T>C, XM_047441506.1:c.*37T>G, XM_047441506.1:c.*37T>C, XM_047441508.1:c.*37T>G, XM_047441508.1:c.*37T>C, NM_001393587.1:c.*37T>G, NM_001393587.1:c.*37T>C, NM_001393598.1:c.*37T>G, NM_001393598.1:c.*37T>C, NM_001393596.1:c.*37T>G, NM_001393596.1:c.*37T>C, NR_027833.1:n.1610T>G, NR_027833.1:n.1610T>C, XM_047441507.1:c.*37T>G, XM_047441507.1:c.*37T>C, NM_001393601.1:c.*37T>G, NM_001393601.1:c.*37T>C, NM_001393597.1:c.*37T>G, NM_001393597.1:c.*37T>C, NR_027834.1:n.1494T>G, NR_027834.1:n.1494T>C, NM_001393606.1:c.*37T>G, NM_001393606.1:c.*37T>C, NM_001393604.1:c.*37T>G, NM_001393604.1:c.*37T>C, NM_001393592.1:c.*37T>G, NM_001393592.1:c.*37T>C, NM_001393603.1:c.*37T>G, NM_001393603.1:c.*37T>C, NM_001393590.1:c.*37T>G, NM_001393590.1:c.*37T>C, NR_027835.1:n.1381T>G, NR_027835.1:n.1381T>C, NM_001393595.1:c.*37T>G, NM_001393595.1:c.*37T>C, NM_001393602.1:c.*37T>G, NM_001393602.1:c.*37T>C, NM_001393588.1:c.*37T>G, NM_001393588.1:c.*37T>C, NM_001393593.1:c.*37T>G, NM_001393593.1:c.*37T>C, NM_001393599.1:c.*37T>G, NM_001393599.1:c.*37T>C, NM_001393589.1:c.*37T>G, NM_001393589.1:c.*37T>C, NM_001393600.1:c.*37T>G, NM_001393600.1:c.*37T>C, NM_001393591.1:c.*37T>G, NM_001393591.1:c.*37T>C, NM_001393608.1:c.*37T>G, NM_001393608.1:c.*37T>C, NM_001393605.1:c.*37T>G, NM_001393605.1:c.*37T>C, NM_001393609.1:c.*37T>G, NM_001393609.1:c.*37T>C, NM_001393607.1:c.*37T>G, NM_001393607.1:c.*37T>C
                  15.

                  rs1472025859 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    22:36141529 (GRCh38)
                    22:36537577 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:36141528:C:A
                    Gene:
                    APOL3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,stop_gained
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000022.11:g.36141529C>A, NC_000022.10:g.36537577C>A, NM_145641.3:c.280G>T, NM_145641.2:c.280G>T, NM_145642.3:c.280G>T, NM_145642.2:c.280G>T, NM_014349.3:c.667G>T, NM_014349.2:c.667G>T, NM_014349.1:c.667G>T, XM_017028949.2:c.670G>T, XM_017028949.1:c.670G>T, NM_030644.2:c.667G>T, NM_030644.1:c.667G>T, NM_145640.2:c.880G>T, NM_145639.2:c.667G>T, NM_145639.1:c.667G>T, XM_047441506.1:c.670G>T, XM_047441508.1:c.667G>T, NM_001393587.1:c.670G>T, NM_001393598.1:c.667G>T, NM_001393596.1:c.667G>T, NR_027833.1:n.1244G>T, XM_047441507.1:c.670G>T, NM_001393601.1:c.667G>T, NM_001393597.1:c.667G>T, NR_027834.1:n.1128G>T, NM_001393606.1:c.280G>T, NM_001393604.1:c.667G>T, NM_001393592.1:c.670G>T, NM_001393603.1:c.667G>T, NM_001393590.1:c.670G>T, NR_027835.1:n.1015G>T, NM_001393595.1:c.667G>T, NM_001393602.1:c.667G>T, NM_001393588.1:c.670G>T, NM_001393593.1:c.667G>T, NM_001393599.1:c.667G>T, NM_001393589.1:c.670G>T, NM_001393600.1:c.667G>T, NM_001393591.1:c.670G>T, NM_001393608.1:c.280G>T, NM_001393605.1:c.625G>T, NM_001393609.1:c.280G>T, NM_001393607.1:c.280G>T, NP_663616.1:p.Glu94Ter, NP_663617.1:p.Glu94Ter, NP_055164.1:p.Glu223Ter, XP_016884438.1:p.Glu224Ter, NP_085147.1:p.Glu223Ter, NP_663615.1:p.Glu294Ter, NP_663614.1:p.Glu223Ter, XP_047297462.1:p.Glu224Ter, XP_047297464.1:p.Glu223Ter, NP_001380516.1:p.Glu224Ter, NP_001380527.1:p.Glu223Ter, NP_001380525.1:p.Glu223Ter, XP_047297463.1:p.Glu224Ter, NP_001380530.1:p.Glu223Ter, NP_001380526.1:p.Glu223Ter, NP_001380535.1:p.Glu94Ter, NP_001380533.1:p.Glu223Ter, NP_001380521.1:p.Glu224Ter, NP_001380532.1:p.Glu223Ter, NP_001380519.1:p.Glu224Ter, NP_001380524.1:p.Glu223Ter, NP_001380531.1:p.Glu223Ter, NP_001380517.1:p.Glu224Ter, NP_001380522.1:p.Glu223Ter, NP_001380528.1:p.Glu223Ter, NP_001380518.1:p.Glu224Ter, NP_001380529.1:p.Glu223Ter, NP_001380520.1:p.Glu224Ter, NP_001380537.1:p.Glu94Ter, NP_001380534.1:p.Glu209Ter, NP_001380538.1:p.Glu94Ter, NP_001380536.1:p.Glu94Ter
                    16.

                    rs1471700292 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      22:36141813 (GRCh38)
                      22:36537861 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:36141812:C:G,NC_000022.11:36141812:C:T
                      Gene:
                      APOL3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,5_prime_UTR_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000022.11:g.36141813C>G, NC_000022.11:g.36141813C>T, NC_000022.10:g.36537861C>G, NC_000022.10:g.36537861C>T, NM_145641.3:c.-5G>C, NM_145641.3:c.-5G>A, NM_145641.2:c.-5G>C, NM_145641.2:c.-5G>A, NM_145642.3:c.-5G>C, NM_145642.3:c.-5G>A, NM_145642.2:c.-5G>C, NM_145642.2:c.-5G>A, NM_014349.3:c.383G>C, NM_014349.3:c.383G>A, NM_014349.2:c.383G>C, NM_014349.2:c.383G>A, NM_014349.1:c.383G>C, NM_014349.1:c.383G>A, XM_017028949.2:c.386G>C, XM_017028949.2:c.386G>A, XM_017028949.1:c.386G>C, XM_017028949.1:c.386G>A, NM_030644.2:c.383G>C, NM_030644.2:c.383G>A, NM_030644.1:c.383G>C, NM_030644.1:c.383G>A, NM_145640.2:c.596G>C, NM_145640.2:c.596G>A, NM_145639.2:c.383G>C, NM_145639.2:c.383G>A, NM_145639.1:c.383G>C, NM_145639.1:c.383G>A, XM_047441506.1:c.386G>C, XM_047441506.1:c.386G>A, XM_047441508.1:c.383G>C, XM_047441508.1:c.383G>A, NM_001393587.1:c.386G>C, NM_001393587.1:c.386G>A, NM_001393598.1:c.383G>C, NM_001393598.1:c.383G>A, NM_001393596.1:c.383G>C, NM_001393596.1:c.383G>A, NR_027833.1:n.960G>C, NR_027833.1:n.960G>A, XM_047441507.1:c.386G>C, XM_047441507.1:c.386G>A, NM_001393601.1:c.383G>C, NM_001393601.1:c.383G>A, NM_001393597.1:c.383G>C, NM_001393597.1:c.383G>A, NR_027834.1:n.844G>C, NR_027834.1:n.844G>A, NM_001393606.1:c.-5G>C, NM_001393606.1:c.-5G>A, NM_001393604.1:c.383G>C, NM_001393604.1:c.383G>A, NM_001393592.1:c.386G>C, NM_001393592.1:c.386G>A, NM_001393603.1:c.383G>C, NM_001393603.1:c.383G>A, NM_001393590.1:c.386G>C, NM_001393590.1:c.386G>A, NR_027835.1:n.731G>C, NR_027835.1:n.731G>A, NM_001393595.1:c.383G>C, NM_001393595.1:c.383G>A, NM_001393602.1:c.383G>C, NM_001393602.1:c.383G>A, NM_001393588.1:c.386G>C, NM_001393588.1:c.386G>A, NM_001393593.1:c.383G>C, NM_001393593.1:c.383G>A, NM_001393599.1:c.383G>C, NM_001393599.1:c.383G>A, NM_001393589.1:c.386G>C, NM_001393589.1:c.386G>A, NM_001393600.1:c.383G>C, NM_001393600.1:c.383G>A, NM_001393591.1:c.386G>C, NM_001393591.1:c.386G>A, NM_001393608.1:c.-5G>C, NM_001393608.1:c.-5G>A, NM_001393605.1:c.341G>C, NM_001393605.1:c.341G>A, NM_001393609.1:c.-5G>C, NM_001393609.1:c.-5G>A, NM_001393607.1:c.-5G>C, NM_001393607.1:c.-5G>A, NP_055164.1:p.Gly128Ala, NP_055164.1:p.Gly128Asp, XP_016884438.1:p.Gly129Ala, XP_016884438.1:p.Gly129Asp, NP_085147.1:p.Gly128Ala, NP_085147.1:p.Gly128Asp, NP_663615.1:p.Gly199Ala, NP_663615.1:p.Gly199Asp, NP_663614.1:p.Gly128Ala, NP_663614.1:p.Gly128Asp, XP_047297462.1:p.Gly129Ala, XP_047297462.1:p.Gly129Asp, XP_047297464.1:p.Gly128Ala, XP_047297464.1:p.Gly128Asp, NP_001380516.1:p.Gly129Ala, NP_001380516.1:p.Gly129Asp, NP_001380527.1:p.Gly128Ala, NP_001380527.1:p.Gly128Asp, NP_001380525.1:p.Gly128Ala, NP_001380525.1:p.Gly128Asp, XP_047297463.1:p.Gly129Ala, XP_047297463.1:p.Gly129Asp, NP_001380530.1:p.Gly128Ala, NP_001380530.1:p.Gly128Asp, NP_001380526.1:p.Gly128Ala, NP_001380526.1:p.Gly128Asp, NP_001380533.1:p.Gly128Ala, NP_001380533.1:p.Gly128Asp, NP_001380521.1:p.Gly129Ala, NP_001380521.1:p.Gly129Asp, NP_001380532.1:p.Gly128Ala, NP_001380532.1:p.Gly128Asp, NP_001380519.1:p.Gly129Ala, NP_001380519.1:p.Gly129Asp, NP_001380524.1:p.Gly128Ala, NP_001380524.1:p.Gly128Asp, NP_001380531.1:p.Gly128Ala, NP_001380531.1:p.Gly128Asp, NP_001380517.1:p.Gly129Ala, NP_001380517.1:p.Gly129Asp, NP_001380522.1:p.Gly128Ala, NP_001380522.1:p.Gly128Asp, NP_001380528.1:p.Gly128Ala, NP_001380528.1:p.Gly128Asp, NP_001380518.1:p.Gly129Ala, NP_001380518.1:p.Gly129Asp, NP_001380529.1:p.Gly128Ala, NP_001380529.1:p.Gly128Asp, NP_001380520.1:p.Gly129Ala, NP_001380520.1:p.Gly129Asp, NP_001380534.1:p.Gly114Ala, NP_001380534.1:p.Gly114Asp
                      17.

                      rs1467063658 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G [Show Flanks]
                        Chromosome:
                        22:36141341 (GRCh38)
                        22:36537389 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:36141340:A:C,NC_000022.11:36141340:A:G
                        Gene:
                        APOL3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_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_000022.11:g.36141341A>C, NC_000022.11:g.36141341A>G, NC_000022.10:g.36537389A>C, NC_000022.10:g.36537389A>G, NM_145641.3:c.468T>G, NM_145641.3:c.468T>C, NM_145641.2:c.468T>G, NM_145641.2:c.468T>C, NM_145642.3:c.468T>G, NM_145642.3:c.468T>C, NM_145642.2:c.468T>G, NM_145642.2:c.468T>C, NM_014349.3:c.855T>G, NM_014349.3:c.855T>C, NM_014349.2:c.855T>G, NM_014349.2:c.855T>C, NM_014349.1:c.855T>G, NM_014349.1:c.855T>C, XM_017028949.2:c.858T>G, XM_017028949.2:c.858T>C, XM_017028949.1:c.858T>G, XM_017028949.1:c.858T>C, NM_030644.2:c.855T>G, NM_030644.2:c.855T>C, NM_030644.1:c.855T>G, NM_030644.1:c.855T>C, NM_145640.2:c.1068T>G, NM_145640.2:c.1068T>C, NM_145639.2:c.855T>G, NM_145639.2:c.855T>C, NM_145639.1:c.855T>G, NM_145639.1:c.855T>C, XM_047441506.1:c.858T>G, XM_047441506.1:c.858T>C, XM_047441508.1:c.855T>G, XM_047441508.1:c.855T>C, NM_001393587.1:c.858T>G, NM_001393587.1:c.858T>C, NM_001393598.1:c.855T>G, NM_001393598.1:c.855T>C, NM_001393596.1:c.855T>G, NM_001393596.1:c.855T>C, NR_027833.1:n.1432T>G, NR_027833.1:n.1432T>C, XM_047441507.1:c.858T>G, XM_047441507.1:c.858T>C, NM_001393601.1:c.855T>G, NM_001393601.1:c.855T>C, NM_001393597.1:c.855T>G, NM_001393597.1:c.855T>C, NR_027834.1:n.1316T>G, NR_027834.1:n.1316T>C, NM_001393606.1:c.468T>G, NM_001393606.1:c.468T>C, NM_001393604.1:c.855T>G, NM_001393604.1:c.855T>C, NM_001393592.1:c.858T>G, NM_001393592.1:c.858T>C, NM_001393603.1:c.855T>G, NM_001393603.1:c.855T>C, NM_001393590.1:c.858T>G, NM_001393590.1:c.858T>C, NR_027835.1:n.1203T>G, NR_027835.1:n.1203T>C, NM_001393595.1:c.855T>G, NM_001393595.1:c.855T>C, NM_001393602.1:c.855T>G, NM_001393602.1:c.855T>C, NM_001393588.1:c.858T>G, NM_001393588.1:c.858T>C, NM_001393593.1:c.855T>G, NM_001393593.1:c.855T>C, NM_001393599.1:c.855T>G, NM_001393599.1:c.855T>C, NM_001393589.1:c.858T>G, NM_001393589.1:c.858T>C, NM_001393600.1:c.855T>G, NM_001393600.1:c.855T>C, NM_001393591.1:c.858T>G, NM_001393591.1:c.858T>C, NM_001393608.1:c.468T>G, NM_001393608.1:c.468T>C, NM_001393605.1:c.813T>G, NM_001393605.1:c.813T>C, NM_001393609.1:c.468T>G, NM_001393609.1:c.468T>C, NM_001393607.1:c.468T>G, NM_001393607.1:c.468T>C
                        19.

                        rs1466006757 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          22:36141720 (GRCh38)
                          22:36537768 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:36141719:G:C
                          Gene:
                          APOL3 (Varview)
                          Functional Consequence:
                          missense_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_000022.11:g.36141720G>C, NC_000022.10:g.36537768G>C, NM_145641.3:c.89C>G, NM_145641.2:c.89C>G, NM_145642.3:c.89C>G, NM_145642.2:c.89C>G, NM_014349.3:c.476C>G, NM_014349.2:c.476C>G, NM_014349.1:c.476C>G, XM_017028949.2:c.479C>G, XM_017028949.1:c.479C>G, NM_030644.2:c.476C>G, NM_030644.1:c.476C>G, NM_145640.2:c.689C>G, NM_145639.2:c.476C>G, NM_145639.1:c.476C>G, XM_047441506.1:c.479C>G, XM_047441508.1:c.476C>G, NM_001393587.1:c.479C>G, NM_001393598.1:c.476C>G, NM_001393596.1:c.476C>G, NR_027833.1:n.1053C>G, XM_047441507.1:c.479C>G, NM_001393601.1:c.476C>G, NM_001393597.1:c.476C>G, NR_027834.1:n.937C>G, NM_001393606.1:c.89C>G, NM_001393604.1:c.476C>G, NM_001393592.1:c.479C>G, NM_001393603.1:c.476C>G, NM_001393590.1:c.479C>G, NR_027835.1:n.824C>G, NM_001393595.1:c.476C>G, NM_001393602.1:c.476C>G, NM_001393588.1:c.479C>G, NM_001393593.1:c.476C>G, NM_001393599.1:c.476C>G, NM_001393589.1:c.479C>G, NM_001393600.1:c.476C>G, NM_001393591.1:c.479C>G, NM_001393608.1:c.89C>G, NM_001393605.1:c.434C>G, NM_001393609.1:c.89C>G, NM_001393607.1:c.89C>G, NP_663616.1:p.Ser30Cys, NP_663617.1:p.Ser30Cys, NP_055164.1:p.Ser159Cys, XP_016884438.1:p.Ser160Cys, NP_085147.1:p.Ser159Cys, NP_663615.1:p.Ser230Cys, NP_663614.1:p.Ser159Cys, XP_047297462.1:p.Ser160Cys, XP_047297464.1:p.Ser159Cys, NP_001380516.1:p.Ser160Cys, NP_001380527.1:p.Ser159Cys, NP_001380525.1:p.Ser159Cys, XP_047297463.1:p.Ser160Cys, NP_001380530.1:p.Ser159Cys, NP_001380526.1:p.Ser159Cys, NP_001380535.1:p.Ser30Cys, NP_001380533.1:p.Ser159Cys, NP_001380521.1:p.Ser160Cys, NP_001380532.1:p.Ser159Cys, NP_001380519.1:p.Ser160Cys, NP_001380524.1:p.Ser159Cys, NP_001380531.1:p.Ser159Cys, NP_001380517.1:p.Ser160Cys, NP_001380522.1:p.Ser159Cys, NP_001380528.1:p.Ser159Cys, NP_001380518.1:p.Ser160Cys, NP_001380529.1:p.Ser159Cys, NP_001380520.1:p.Ser160Cys, NP_001380537.1:p.Ser30Cys, NP_001380534.1:p.Ser145Cys, NP_001380538.1:p.Ser30Cys, NP_001380536.1:p.Ser30Cys
                          20.

                          rs1465543347 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:36142033 (GRCh38)
                            22:36538081 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:36142032:C:T
                            Gene:
                            APOL3 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000022.11:g.36142033C>T, NC_000022.10:g.36538081C>T, NM_145641.3:c.-225G>A, NM_145641.2:c.-225G>A, NM_145642.3:c.-225G>A, NM_145642.2:c.-225G>A, NM_014349.3:c.163G>A, NM_014349.2:c.163G>A, NM_014349.1:c.163G>A, XM_017028949.2:c.166G>A, XM_017028949.1:c.166G>A, NM_030644.2:c.163G>A, NM_030644.1:c.163G>A, NM_145640.2:c.376G>A, NM_145639.2:c.163G>A, NM_145639.1:c.163G>A, XM_047441506.1:c.166G>A, XM_047441508.1:c.163G>A, NM_001393587.1:c.166G>A, NM_001393598.1:c.163G>A, NM_001393596.1:c.163G>A, NR_027833.1:n.740G>A, XM_047441507.1:c.166G>A, NM_001393601.1:c.163G>A, NM_001393597.1:c.163G>A, NR_027834.1:n.624G>A, NM_001393606.1:c.-225G>A, NM_001393604.1:c.163G>A, NM_001393592.1:c.166G>A, NM_001393603.1:c.163G>A, NM_001393590.1:c.166G>A, NR_027835.1:n.511G>A, NM_001393595.1:c.163G>A, NM_001393602.1:c.163G>A, NM_001393588.1:c.166G>A, NM_001393593.1:c.163G>A, NM_001393599.1:c.163G>A, NM_001393589.1:c.166G>A, NM_001393600.1:c.163G>A, NM_001393591.1:c.166G>A, NM_001393608.1:c.-225G>A, NM_001393605.1:c.121G>A, NM_001393609.1:c.-225G>A, NM_001393607.1:c.-225G>A, NP_055164.1:p.Ala55Thr, XP_016884438.1:p.Ala56Thr, NP_085147.1:p.Ala55Thr, NP_663615.1:p.Ala126Thr, NP_663614.1:p.Ala55Thr, XP_047297462.1:p.Ala56Thr, XP_047297464.1:p.Ala55Thr, NP_001380516.1:p.Ala56Thr, NP_001380527.1:p.Ala55Thr, NP_001380525.1:p.Ala55Thr, XP_047297463.1:p.Ala56Thr, NP_001380530.1:p.Ala55Thr, NP_001380526.1:p.Ala55Thr, NP_001380533.1:p.Ala55Thr, NP_001380521.1:p.Ala56Thr, NP_001380532.1:p.Ala55Thr, NP_001380519.1:p.Ala56Thr, NP_001380524.1:p.Ala55Thr, NP_001380531.1:p.Ala55Thr, NP_001380517.1:p.Ala56Thr, NP_001380522.1:p.Ala55Thr, NP_001380528.1:p.Ala55Thr, NP_001380518.1:p.Ala56Thr, NP_001380529.1:p.Ala55Thr, NP_001380520.1:p.Ala56Thr, NP_001380534.1:p.Ala41Thr

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