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Items: 1 to 20 of 832

1.

rs1490067868 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    19:21808216 (GRCh38)
    19:21991018 (GRCh37)
    Canonical SPDI:
    NC_000019.10:21808215:T:A
    Gene:
    ZNF43 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.21808216T>A, NC_000019.9:g.21991018T>A, NW_003315964.2:g.169406T>A, NM_003423.4:c.1821A>T, NM_003423.3:c.1821A>T, XM_017027207.3:c.1803A>T, XM_017027207.2:c.1803A>T, XM_017027207.1:c.1803A>T, XM_017027209.3:c.1803A>T, XM_017027209.2:c.1803A>T, XM_017027209.1:c.1803A>T, XM_017027213.3:c.1803A>T, XM_017027213.2:c.1803A>T, XM_017027213.1:c.1803A>T, XM_017027211.3:c.1803A>T, XM_017027211.2:c.1803A>T, XM_017027211.1:c.1803A>T, XM_017027208.3:c.1803A>T, XM_017027208.2:c.1803A>T, XM_017027208.1:c.1803A>T, XM_017027212.3:c.1803A>T, XM_017027212.2:c.1803A>T, XM_017027212.1:c.1803A>T, XM_017027214.3:c.1803A>T, XM_017027214.2:c.1803A>T, XM_017027214.1:c.1803A>T, NM_001256648.2:c.1803A>T, NM_001256648.1:c.1803A>T, NM_001256654.2:c.1626A>T, NM_001256654.1:c.1626A>T, NM_001256649.2:c.1803A>T, NM_001256649.1:c.1803A>T, NM_001256653.2:c.1848A>T, NM_001256653.1:c.1848A>T, NM_001256651.2:c.1626A>T, NM_001256651.1:c.1626A>T, NM_001256650.2:c.1803A>T, NM_001256650.1:c.1803A>T, XM_047439314.1:c.1803A>T, XM_047439316.1:c.1626A>T, XM_047439315.1:c.1803A>T

    2.

    rs1488567367 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      19:21809347 (GRCh38)
      19:21992149 (GRCh37)
      Canonical SPDI:
      NC_000019.10:21809346:G:T
      Gene:
      ZNF43 (Varview)
      Functional Consequence:
      stop_gained,coding_sequence_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.21809347G>T, NC_000019.9:g.21992149G>T, NM_003423.4:c.690C>A, NM_003423.3:c.690C>A, XM_017027207.3:c.672C>A, XM_017027207.2:c.672C>A, XM_017027207.1:c.672C>A, XM_017027209.3:c.672C>A, XM_017027209.2:c.672C>A, XM_017027209.1:c.672C>A, XM_017027213.3:c.672C>A, XM_017027213.2:c.672C>A, XM_017027213.1:c.672C>A, XM_017027211.3:c.672C>A, XM_017027211.2:c.672C>A, XM_017027211.1:c.672C>A, XM_017027208.3:c.672C>A, XM_017027208.2:c.672C>A, XM_017027208.1:c.672C>A, XM_017027212.3:c.672C>A, XM_017027212.2:c.672C>A, XM_017027212.1:c.672C>A, XM_017027214.3:c.672C>A, XM_017027214.2:c.672C>A, XM_017027214.1:c.672C>A, NM_001256648.2:c.672C>A, NM_001256648.1:c.672C>A, NM_001256649.2:c.672C>A, NM_001256649.1:c.672C>A, NM_001256650.2:c.672C>A, NM_001256650.1:c.672C>A, NM_001256653.2:c.717C>A, NM_001256653.1:c.717C>A, NM_001256651.2:c.495C>A, NM_001256651.1:c.495C>A, NM_001256654.2:c.495C>A, NM_001256654.1:c.495C>A, XM_047439314.1:c.672C>A, XM_047439316.1:c.495C>A, XM_047439315.1:c.672C>A, NP_003414.2:p.Tyr230Ter, XP_016882696.1:p.Tyr224Ter, XP_016882698.1:p.Tyr224Ter, XP_016882702.1:p.Tyr224Ter, XP_016882700.1:p.Tyr224Ter, XP_016882697.1:p.Tyr224Ter, XP_016882701.1:p.Tyr224Ter, XP_016882703.1:p.Tyr224Ter, NP_001243577.1:p.Tyr224Ter, NP_001243578.1:p.Tyr224Ter, NP_001243579.1:p.Tyr224Ter, NP_001243582.1:p.Tyr239Ter, NP_001243580.1:p.Tyr165Ter, NP_001243583.1:p.Tyr165Ter, XP_047295270.1:p.Tyr224Ter, XP_047295272.1:p.Tyr165Ter, XP_047295271.1:p.Tyr224Ter

      3.

      rs1487699538 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        19:21808572 (GRCh38)
        19:21991374 (GRCh37)
        Canonical SPDI:
        NC_000019.10:21808571:T:C,NC_000019.10:21808571:T:G
        Gene:
        ZNF43 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000019.10:g.21808572T>C, NC_000019.10:g.21808572T>G, NC_000019.9:g.21991374T>C, NC_000019.9:g.21991374T>G, NW_003315964.2:g.169762T>C, NW_003315964.2:g.169762T>G, NM_003423.4:c.1465A>G, NM_003423.4:c.1465A>C, NM_003423.3:c.1465A>G, NM_003423.3:c.1465A>C, XM_017027207.3:c.1447A>G, XM_017027207.3:c.1447A>C, XM_017027207.2:c.1447A>G, XM_017027207.2:c.1447A>C, XM_017027207.1:c.1447A>G, XM_017027207.1:c.1447A>C, XM_017027209.3:c.1447A>G, XM_017027209.3:c.1447A>C, XM_017027209.2:c.1447A>G, XM_017027209.2:c.1447A>C, XM_017027209.1:c.1447A>G, XM_017027209.1:c.1447A>C, XM_017027213.3:c.1447A>G, XM_017027213.3:c.1447A>C, XM_017027213.2:c.1447A>G, XM_017027213.2:c.1447A>C, XM_017027213.1:c.1447A>G, XM_017027213.1:c.1447A>C, XM_017027211.3:c.1447A>G, XM_017027211.3:c.1447A>C, XM_017027211.2:c.1447A>G, XM_017027211.2:c.1447A>C, XM_017027211.1:c.1447A>G, XM_017027211.1:c.1447A>C, XM_017027208.3:c.1447A>G, XM_017027208.3:c.1447A>C, XM_017027208.2:c.1447A>G, XM_017027208.2:c.1447A>C, XM_017027208.1:c.1447A>G, XM_017027208.1:c.1447A>C, XM_017027212.3:c.1447A>G, XM_017027212.3:c.1447A>C, XM_017027212.2:c.1447A>G, XM_017027212.2:c.1447A>C, XM_017027212.1:c.1447A>G, XM_017027212.1:c.1447A>C, XM_017027214.3:c.1447A>G, XM_017027214.3:c.1447A>C, XM_017027214.2:c.1447A>G, XM_017027214.2:c.1447A>C, XM_017027214.1:c.1447A>G, XM_017027214.1:c.1447A>C, NM_001256648.2:c.1447A>G, NM_001256648.2:c.1447A>C, NM_001256648.1:c.1447A>G, NM_001256648.1:c.1447A>C, NM_001256654.2:c.1270A>G, NM_001256654.2:c.1270A>C, NM_001256654.1:c.1270A>G, NM_001256654.1:c.1270A>C, NM_001256649.2:c.1447A>G, NM_001256649.2:c.1447A>C, NM_001256649.1:c.1447A>G, NM_001256649.1:c.1447A>C, NM_001256653.2:c.1492A>G, NM_001256653.2:c.1492A>C, NM_001256653.1:c.1492A>G, NM_001256653.1:c.1492A>C, NM_001256651.2:c.1270A>G, NM_001256651.2:c.1270A>C, NM_001256651.1:c.1270A>G, NM_001256651.1:c.1270A>C, NM_001256650.2:c.1447A>G, NM_001256650.2:c.1447A>C, NM_001256650.1:c.1447A>G, NM_001256650.1:c.1447A>C, XM_047439314.1:c.1447A>G, XM_047439314.1:c.1447A>C, XM_047439316.1:c.1270A>G, XM_047439316.1:c.1270A>C, XM_047439315.1:c.1447A>G, XM_047439315.1:c.1447A>C, NP_003414.2:p.Lys489Glu, NP_003414.2:p.Lys489Gln, XP_016882696.1:p.Lys483Glu, XP_016882696.1:p.Lys483Gln, XP_016882698.1:p.Lys483Glu, XP_016882698.1:p.Lys483Gln, XP_016882702.1:p.Lys483Glu, XP_016882702.1:p.Lys483Gln, XP_016882700.1:p.Lys483Glu, XP_016882700.1:p.Lys483Gln, XP_016882697.1:p.Lys483Glu, XP_016882697.1:p.Lys483Gln, XP_016882701.1:p.Lys483Glu, XP_016882701.1:p.Lys483Gln, XP_016882703.1:p.Lys483Glu, XP_016882703.1:p.Lys483Gln, NP_001243577.1:p.Lys483Glu, NP_001243577.1:p.Lys483Gln, NP_001243583.1:p.Lys424Glu, NP_001243583.1:p.Lys424Gln, NP_001243578.1:p.Lys483Glu, NP_001243578.1:p.Lys483Gln, NP_001243582.1:p.Lys498Glu, NP_001243582.1:p.Lys498Gln, NP_001243580.1:p.Lys424Glu, NP_001243580.1:p.Lys424Gln, NP_001243579.1:p.Lys483Glu, NP_001243579.1:p.Lys483Gln, XP_047295270.1:p.Lys483Glu, XP_047295270.1:p.Lys483Gln, XP_047295272.1:p.Lys424Glu, XP_047295272.1:p.Lys424Gln, XP_047295271.1:p.Lys483Glu, XP_047295271.1:p.Lys483Gln

        4.

        rs1486450272 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:21809331 (GRCh38)
          19:21992133 (GRCh37)
          Canonical SPDI:
          NC_000019.10:21809330:C:T
          Gene:
          ZNF43 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          T=0.000029/4 (GnomAD)
          HGVS:
          NC_000019.10:g.21809331C>T, NC_000019.9:g.21992133C>T, NM_003423.4:c.706G>A, NM_003423.3:c.706G>A, XM_017027207.3:c.688G>A, XM_017027207.2:c.688G>A, XM_017027207.1:c.688G>A, XM_017027209.3:c.688G>A, XM_017027209.2:c.688G>A, XM_017027209.1:c.688G>A, XM_017027213.3:c.688G>A, XM_017027213.2:c.688G>A, XM_017027213.1:c.688G>A, XM_017027211.3:c.688G>A, XM_017027211.2:c.688G>A, XM_017027211.1:c.688G>A, XM_017027208.3:c.688G>A, XM_017027208.2:c.688G>A, XM_017027208.1:c.688G>A, XM_017027212.3:c.688G>A, XM_017027212.2:c.688G>A, XM_017027212.1:c.688G>A, XM_017027214.3:c.688G>A, XM_017027214.2:c.688G>A, XM_017027214.1:c.688G>A, NM_001256648.2:c.688G>A, NM_001256648.1:c.688G>A, NM_001256649.2:c.688G>A, NM_001256649.1:c.688G>A, NM_001256650.2:c.688G>A, NM_001256650.1:c.688G>A, NM_001256653.2:c.733G>A, NM_001256653.1:c.733G>A, NM_001256651.2:c.511G>A, NM_001256651.1:c.511G>A, NM_001256654.2:c.511G>A, NM_001256654.1:c.511G>A, XM_047439314.1:c.688G>A, XM_047439316.1:c.511G>A, XM_047439315.1:c.688G>A, NP_003414.2:p.Gly236Ser, XP_016882696.1:p.Gly230Ser, XP_016882698.1:p.Gly230Ser, XP_016882702.1:p.Gly230Ser, XP_016882700.1:p.Gly230Ser, XP_016882697.1:p.Gly230Ser, XP_016882701.1:p.Gly230Ser, XP_016882703.1:p.Gly230Ser, NP_001243577.1:p.Gly230Ser, NP_001243578.1:p.Gly230Ser, NP_001243579.1:p.Gly230Ser, NP_001243582.1:p.Gly245Ser, NP_001243580.1:p.Gly171Ser, NP_001243583.1:p.Gly171Ser, XP_047295270.1:p.Gly230Ser, XP_047295272.1:p.Gly171Ser, XP_047295271.1:p.Gly230Ser

          5.

          rs1486197634 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:21809784 (GRCh38)
            19:21992586 (GRCh37)
            Canonical SPDI:
            NC_000019.10:21809783:C:T
            Gene:
            ZNF43 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000005/1 (GnomAD_exomes)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000019.10:g.21809784C>T, NC_000019.9:g.21992586C>T, NM_003423.4:c.253G>A, NM_003423.3:c.253G>A, XM_017027207.3:c.235G>A, XM_017027207.2:c.235G>A, XM_017027207.1:c.235G>A, XM_017027209.3:c.235G>A, XM_017027209.2:c.235G>A, XM_017027209.1:c.235G>A, XM_017027213.3:c.235G>A, XM_017027213.2:c.235G>A, XM_017027213.1:c.235G>A, XM_017027211.3:c.235G>A, XM_017027211.2:c.235G>A, XM_017027211.1:c.235G>A, XM_017027208.3:c.235G>A, XM_017027208.2:c.235G>A, XM_017027208.1:c.235G>A, XM_017027212.3:c.235G>A, XM_017027212.2:c.235G>A, XM_017027212.1:c.235G>A, XM_017027214.3:c.235G>A, XM_017027214.2:c.235G>A, XM_017027214.1:c.235G>A, NM_001256648.2:c.235G>A, NM_001256648.1:c.235G>A, NM_001256649.2:c.235G>A, NM_001256649.1:c.235G>A, NM_001256650.2:c.235G>A, NM_001256650.1:c.235G>A, NM_001256653.2:c.280G>A, NM_001256653.1:c.280G>A, NM_001256651.2:c.58G>A, NM_001256651.1:c.58G>A, NM_001256654.2:c.58G>A, NM_001256654.1:c.58G>A, XM_047439314.1:c.235G>A, XM_047439316.1:c.58G>A, XM_047439315.1:c.235G>A, NP_003414.2:p.Asp85Asn, XP_016882696.1:p.Asp79Asn, XP_016882698.1:p.Asp79Asn, XP_016882702.1:p.Asp79Asn, XP_016882700.1:p.Asp79Asn, XP_016882697.1:p.Asp79Asn, XP_016882701.1:p.Asp79Asn, XP_016882703.1:p.Asp79Asn, NP_001243577.1:p.Asp79Asn, NP_001243578.1:p.Asp79Asn, NP_001243579.1:p.Asp79Asn, NP_001243582.1:p.Asp94Asn, NP_001243580.1:p.Asp20Asn, NP_001243583.1:p.Asp20Asn, XP_047295270.1:p.Asp79Asn, XP_047295272.1:p.Asp20Asn, XP_047295271.1:p.Asp79Asn

            6.

            rs1486092875 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              19:21809065 (GRCh38)
              19:21991867 (GRCh37)
              Canonical SPDI:
              NC_000019.10:21809064:G:C
              Gene:
              ZNF43 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000019.10:g.21809065G>C, NC_000019.9:g.21991867G>C, NM_003423.4:c.972C>G, NM_003423.3:c.972C>G, XM_017027207.3:c.954C>G, XM_017027207.2:c.954C>G, XM_017027207.1:c.954C>G, XM_017027209.3:c.954C>G, XM_017027209.2:c.954C>G, XM_017027209.1:c.954C>G, XM_017027213.3:c.954C>G, XM_017027213.2:c.954C>G, XM_017027213.1:c.954C>G, XM_017027211.3:c.954C>G, XM_017027211.2:c.954C>G, XM_017027211.1:c.954C>G, XM_017027208.3:c.954C>G, XM_017027208.2:c.954C>G, XM_017027208.1:c.954C>G, XM_017027212.3:c.954C>G, XM_017027212.2:c.954C>G, XM_017027212.1:c.954C>G, XM_017027214.3:c.954C>G, XM_017027214.2:c.954C>G, XM_017027214.1:c.954C>G, NM_001256648.2:c.954C>G, NM_001256648.1:c.954C>G, NM_001256649.2:c.954C>G, NM_001256649.1:c.954C>G, NM_001256650.2:c.954C>G, NM_001256650.1:c.954C>G, NM_001256653.2:c.999C>G, NM_001256653.1:c.999C>G, NM_001256651.2:c.777C>G, NM_001256651.1:c.777C>G, NM_001256654.2:c.777C>G, NM_001256654.1:c.777C>G, XM_047439314.1:c.954C>G, XM_047439316.1:c.777C>G, XM_047439315.1:c.954C>G, NP_003414.2:p.Asn324Lys, XP_016882696.1:p.Asn318Lys, XP_016882698.1:p.Asn318Lys, XP_016882702.1:p.Asn318Lys, XP_016882700.1:p.Asn318Lys, XP_016882697.1:p.Asn318Lys, XP_016882701.1:p.Asn318Lys, XP_016882703.1:p.Asn318Lys, NP_001243577.1:p.Asn318Lys, NP_001243578.1:p.Asn318Lys, NP_001243579.1:p.Asn318Lys, NP_001243582.1:p.Asn333Lys, NP_001243580.1:p.Asn259Lys, NP_001243583.1:p.Asn259Lys, XP_047295270.1:p.Asn318Lys, XP_047295272.1:p.Asn259Lys, XP_047295271.1:p.Asn318Lys

              7.

              rs1485476187 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                19:21809683 (GRCh38)
                19:21992485 (GRCh37)
                Canonical SPDI:
                NC_000019.10:21809682:A:T
                Gene:
                ZNF43 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000028/7 (GnomAD_exomes)
                T=0.000045/12 (TOPMED)
                T=0.00005/7 (GnomAD)
                HGVS:
                NC_000019.10:g.21809683A>T, NC_000019.9:g.21992485A>T, NM_003423.4:c.354T>A, NM_003423.3:c.354T>A, XM_017027207.3:c.336T>A, XM_017027207.2:c.336T>A, XM_017027207.1:c.336T>A, XM_017027209.3:c.336T>A, XM_017027209.2:c.336T>A, XM_017027209.1:c.336T>A, XM_017027213.3:c.336T>A, XM_017027213.2:c.336T>A, XM_017027213.1:c.336T>A, XM_017027211.3:c.336T>A, XM_017027211.2:c.336T>A, XM_017027211.1:c.336T>A, XM_017027208.3:c.336T>A, XM_017027208.2:c.336T>A, XM_017027208.1:c.336T>A, XM_017027212.3:c.336T>A, XM_017027212.2:c.336T>A, XM_017027212.1:c.336T>A, XM_017027214.3:c.336T>A, XM_017027214.2:c.336T>A, XM_017027214.1:c.336T>A, NM_001256648.2:c.336T>A, NM_001256648.1:c.336T>A, NM_001256649.2:c.336T>A, NM_001256649.1:c.336T>A, NM_001256650.2:c.336T>A, NM_001256650.1:c.336T>A, NM_001256653.2:c.381T>A, NM_001256653.1:c.381T>A, NM_001256651.2:c.159T>A, NM_001256651.1:c.159T>A, NM_001256654.2:c.159T>A, NM_001256654.1:c.159T>A, XM_047439314.1:c.336T>A, XM_047439316.1:c.159T>A, XM_047439315.1:c.336T>A, NP_003414.2:p.His118Gln, XP_016882696.1:p.His112Gln, XP_016882698.1:p.His112Gln, XP_016882702.1:p.His112Gln, XP_016882700.1:p.His112Gln, XP_016882697.1:p.His112Gln, XP_016882701.1:p.His112Gln, XP_016882703.1:p.His112Gln, NP_001243577.1:p.His112Gln, NP_001243578.1:p.His112Gln, NP_001243579.1:p.His112Gln, NP_001243582.1:p.His127Gln, NP_001243580.1:p.His53Gln, NP_001243583.1:p.His53Gln, XP_047295270.1:p.His112Gln, XP_047295272.1:p.His53Gln, XP_047295271.1:p.His112Gln

                8.

                rs1484721392 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  19:21809146 (GRCh38)
                  19:21991948 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:21809145:T:C
                  Gene:
                  ZNF43 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000019.10:g.21809146T>C, NC_000019.9:g.21991948T>C, NM_003423.4:c.891A>G, NM_003423.3:c.891A>G, XM_017027207.3:c.873A>G, XM_017027207.2:c.873A>G, XM_017027207.1:c.873A>G, XM_017027209.3:c.873A>G, XM_017027209.2:c.873A>G, XM_017027209.1:c.873A>G, XM_017027213.3:c.873A>G, XM_017027213.2:c.873A>G, XM_017027213.1:c.873A>G, XM_017027211.3:c.873A>G, XM_017027211.2:c.873A>G, XM_017027211.1:c.873A>G, XM_017027208.3:c.873A>G, XM_017027208.2:c.873A>G, XM_017027208.1:c.873A>G, XM_017027212.3:c.873A>G, XM_017027212.2:c.873A>G, XM_017027212.1:c.873A>G, XM_017027214.3:c.873A>G, XM_017027214.2:c.873A>G, XM_017027214.1:c.873A>G, NM_001256648.2:c.873A>G, NM_001256648.1:c.873A>G, NM_001256649.2:c.873A>G, NM_001256649.1:c.873A>G, NM_001256650.2:c.873A>G, NM_001256650.1:c.873A>G, NM_001256653.2:c.918A>G, NM_001256653.1:c.918A>G, NM_001256651.2:c.696A>G, NM_001256651.1:c.696A>G, NM_001256654.2:c.696A>G, NM_001256654.1:c.696A>G, XM_047439314.1:c.873A>G, XM_047439316.1:c.696A>G, XM_047439315.1:c.873A>G

                  9.

                  rs1483601380 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:21808481 (GRCh38)
                    19:21991283 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:21808480:A:G
                    Gene:
                    ZNF43 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000019.10:g.21808481A>G, NC_000019.9:g.21991283A>G, NW_003315964.2:g.169671A>G, NM_003423.4:c.1556T>C, NM_003423.3:c.1556T>C, XM_017027207.3:c.1538T>C, XM_017027207.2:c.1538T>C, XM_017027207.1:c.1538T>C, XM_017027209.3:c.1538T>C, XM_017027209.2:c.1538T>C, XM_017027209.1:c.1538T>C, XM_017027213.3:c.1538T>C, XM_017027213.2:c.1538T>C, XM_017027213.1:c.1538T>C, XM_017027211.3:c.1538T>C, XM_017027211.2:c.1538T>C, XM_017027211.1:c.1538T>C, XM_017027208.3:c.1538T>C, XM_017027208.2:c.1538T>C, XM_017027208.1:c.1538T>C, XM_017027212.3:c.1538T>C, XM_017027212.2:c.1538T>C, XM_017027212.1:c.1538T>C, XM_017027214.3:c.1538T>C, XM_017027214.2:c.1538T>C, XM_017027214.1:c.1538T>C, NM_001256648.2:c.1538T>C, NM_001256648.1:c.1538T>C, NM_001256654.2:c.1361T>C, NM_001256654.1:c.1361T>C, NM_001256649.2:c.1538T>C, NM_001256649.1:c.1538T>C, NM_001256653.2:c.1583T>C, NM_001256653.1:c.1583T>C, NM_001256651.2:c.1361T>C, NM_001256651.1:c.1361T>C, NM_001256650.2:c.1538T>C, NM_001256650.1:c.1538T>C, XM_047439314.1:c.1538T>C, XM_047439316.1:c.1361T>C, XM_047439315.1:c.1538T>C, NP_003414.2:p.Phe519Ser, XP_016882696.1:p.Phe513Ser, XP_016882698.1:p.Phe513Ser, XP_016882702.1:p.Phe513Ser, XP_016882700.1:p.Phe513Ser, XP_016882697.1:p.Phe513Ser, XP_016882701.1:p.Phe513Ser, XP_016882703.1:p.Phe513Ser, NP_001243577.1:p.Phe513Ser, NP_001243583.1:p.Phe454Ser, NP_001243578.1:p.Phe513Ser, NP_001243582.1:p.Phe528Ser, NP_001243580.1:p.Phe454Ser, NP_001243579.1:p.Phe513Ser, XP_047295270.1:p.Phe513Ser, XP_047295272.1:p.Phe454Ser, XP_047295271.1:p.Phe513Ser

                    10.

                    rs1482954549 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      19:21809015 (GRCh38)
                      19:21991817 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:21809014:G:A,NC_000019.10:21809014:G:C
                      Gene:
                      ZNF43 (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)
                      HGVS:
                      NC_000019.10:g.21809015G>A, NC_000019.10:g.21809015G>C, NC_000019.9:g.21991817G>A, NC_000019.9:g.21991817G>C, NW_003315964.2:g.170205G>A, NW_003315964.2:g.170205G>C, NM_003423.4:c.1022C>T, NM_003423.4:c.1022C>G, NM_003423.3:c.1022C>T, NM_003423.3:c.1022C>G, XM_017027207.3:c.1004C>T, XM_017027207.3:c.1004C>G, XM_017027207.2:c.1004C>T, XM_017027207.2:c.1004C>G, XM_017027207.1:c.1004C>T, XM_017027207.1:c.1004C>G, XM_017027209.3:c.1004C>T, XM_017027209.3:c.1004C>G, XM_017027209.2:c.1004C>T, XM_017027209.2:c.1004C>G, XM_017027209.1:c.1004C>T, XM_017027209.1:c.1004C>G, XM_017027213.3:c.1004C>T, XM_017027213.3:c.1004C>G, XM_017027213.2:c.1004C>T, XM_017027213.2:c.1004C>G, XM_017027213.1:c.1004C>T, XM_017027213.1:c.1004C>G, XM_017027211.3:c.1004C>T, XM_017027211.3:c.1004C>G, XM_017027211.2:c.1004C>T, XM_017027211.2:c.1004C>G, XM_017027211.1:c.1004C>T, XM_017027211.1:c.1004C>G, XM_017027208.3:c.1004C>T, XM_017027208.3:c.1004C>G, XM_017027208.2:c.1004C>T, XM_017027208.2:c.1004C>G, XM_017027208.1:c.1004C>T, XM_017027208.1:c.1004C>G, XM_017027212.3:c.1004C>T, XM_017027212.3:c.1004C>G, XM_017027212.2:c.1004C>T, XM_017027212.2:c.1004C>G, XM_017027212.1:c.1004C>T, XM_017027212.1:c.1004C>G, XM_017027214.3:c.1004C>T, XM_017027214.3:c.1004C>G, XM_017027214.2:c.1004C>T, XM_017027214.2:c.1004C>G, XM_017027214.1:c.1004C>T, XM_017027214.1:c.1004C>G, NM_001256648.2:c.1004C>T, NM_001256648.2:c.1004C>G, NM_001256648.1:c.1004C>T, NM_001256648.1:c.1004C>G, NM_001256654.2:c.827C>T, NM_001256654.2:c.827C>G, NM_001256654.1:c.827C>T, NM_001256654.1:c.827C>G, NM_001256649.2:c.1004C>T, NM_001256649.2:c.1004C>G, NM_001256649.1:c.1004C>T, NM_001256649.1:c.1004C>G, NM_001256653.2:c.1049C>T, NM_001256653.2:c.1049C>G, NM_001256653.1:c.1049C>T, NM_001256653.1:c.1049C>G, NM_001256651.2:c.827C>T, NM_001256651.2:c.827C>G, NM_001256651.1:c.827C>T, NM_001256651.1:c.827C>G, NM_001256650.2:c.1004C>T, NM_001256650.2:c.1004C>G, NM_001256650.1:c.1004C>T, NM_001256650.1:c.1004C>G, XM_047439314.1:c.1004C>T, XM_047439314.1:c.1004C>G, XM_047439316.1:c.827C>T, XM_047439316.1:c.827C>G, XM_047439315.1:c.1004C>T, XM_047439315.1:c.1004C>G, NP_003414.2:p.Pro341Leu, NP_003414.2:p.Pro341Arg, XP_016882696.1:p.Pro335Leu, XP_016882696.1:p.Pro335Arg, XP_016882698.1:p.Pro335Leu, XP_016882698.1:p.Pro335Arg, XP_016882702.1:p.Pro335Leu, XP_016882702.1:p.Pro335Arg, XP_016882700.1:p.Pro335Leu, XP_016882700.1:p.Pro335Arg, XP_016882697.1:p.Pro335Leu, XP_016882697.1:p.Pro335Arg, XP_016882701.1:p.Pro335Leu, XP_016882701.1:p.Pro335Arg, XP_016882703.1:p.Pro335Leu, XP_016882703.1:p.Pro335Arg, NP_001243577.1:p.Pro335Leu, NP_001243577.1:p.Pro335Arg, NP_001243583.1:p.Pro276Leu, NP_001243583.1:p.Pro276Arg, NP_001243578.1:p.Pro335Leu, NP_001243578.1:p.Pro335Arg, NP_001243582.1:p.Pro350Leu, NP_001243582.1:p.Pro350Arg, NP_001243580.1:p.Pro276Leu, NP_001243580.1:p.Pro276Arg, NP_001243579.1:p.Pro335Leu, NP_001243579.1:p.Pro335Arg, XP_047295270.1:p.Pro335Leu, XP_047295270.1:p.Pro335Arg, XP_047295272.1:p.Pro276Leu, XP_047295272.1:p.Pro276Arg, XP_047295271.1:p.Pro335Leu, XP_047295271.1:p.Pro335Arg

                      11.

                      rs1481943396 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        19:21809397 (GRCh38)
                        19:21992199 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:21809396:G:C
                        Gene:
                        ZNF43 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000019.10:g.21809397G>C, NC_000019.9:g.21992199G>C, NM_003423.4:c.640C>G, NM_003423.3:c.640C>G, XM_017027207.3:c.622C>G, XM_017027207.2:c.622C>G, XM_017027207.1:c.622C>G, XM_017027209.3:c.622C>G, XM_017027209.2:c.622C>G, XM_017027209.1:c.622C>G, XM_017027213.3:c.622C>G, XM_017027213.2:c.622C>G, XM_017027213.1:c.622C>G, XM_017027211.3:c.622C>G, XM_017027211.2:c.622C>G, XM_017027211.1:c.622C>G, XM_017027208.3:c.622C>G, XM_017027208.2:c.622C>G, XM_017027208.1:c.622C>G, XM_017027212.3:c.622C>G, XM_017027212.2:c.622C>G, XM_017027212.1:c.622C>G, XM_017027214.3:c.622C>G, XM_017027214.2:c.622C>G, XM_017027214.1:c.622C>G, NM_001256648.2:c.622C>G, NM_001256648.1:c.622C>G, NM_001256649.2:c.622C>G, NM_001256649.1:c.622C>G, NM_001256650.2:c.622C>G, NM_001256650.1:c.622C>G, NM_001256653.2:c.667C>G, NM_001256653.1:c.667C>G, NM_001256651.2:c.445C>G, NM_001256651.1:c.445C>G, NM_001256654.2:c.445C>G, NM_001256654.1:c.445C>G, XM_047439314.1:c.622C>G, XM_047439316.1:c.445C>G, XM_047439315.1:c.622C>G, NP_003414.2:p.Pro214Ala, XP_016882696.1:p.Pro208Ala, XP_016882698.1:p.Pro208Ala, XP_016882702.1:p.Pro208Ala, XP_016882700.1:p.Pro208Ala, XP_016882697.1:p.Pro208Ala, XP_016882701.1:p.Pro208Ala, XP_016882703.1:p.Pro208Ala, NP_001243577.1:p.Pro208Ala, NP_001243578.1:p.Pro208Ala, NP_001243579.1:p.Pro208Ala, NP_001243582.1:p.Pro223Ala, NP_001243580.1:p.Pro149Ala, NP_001243583.1:p.Pro149Ala, XP_047295270.1:p.Pro208Ala, XP_047295272.1:p.Pro149Ala, XP_047295271.1:p.Pro208Ala

                        12.

                        rs1481808404 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:21809073 (GRCh38)
                          19:21991875 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:21809072:C:T
                          Gene:
                          ZNF43 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000019.10:g.21809073C>T, NC_000019.9:g.21991875C>T, NM_003423.4:c.964G>A, NM_003423.3:c.964G>A, XM_017027207.3:c.946G>A, XM_017027207.2:c.946G>A, XM_017027207.1:c.946G>A, XM_017027209.3:c.946G>A, XM_017027209.2:c.946G>A, XM_017027209.1:c.946G>A, XM_017027213.3:c.946G>A, XM_017027213.2:c.946G>A, XM_017027213.1:c.946G>A, XM_017027211.3:c.946G>A, XM_017027211.2:c.946G>A, XM_017027211.1:c.946G>A, XM_017027208.3:c.946G>A, XM_017027208.2:c.946G>A, XM_017027208.1:c.946G>A, XM_017027212.3:c.946G>A, XM_017027212.2:c.946G>A, XM_017027212.1:c.946G>A, XM_017027214.3:c.946G>A, XM_017027214.2:c.946G>A, XM_017027214.1:c.946G>A, NM_001256648.2:c.946G>A, NM_001256648.1:c.946G>A, NM_001256649.2:c.946G>A, NM_001256649.1:c.946G>A, NM_001256650.2:c.946G>A, NM_001256650.1:c.946G>A, NM_001256653.2:c.991G>A, NM_001256653.1:c.991G>A, NM_001256651.2:c.769G>A, NM_001256651.1:c.769G>A, NM_001256654.2:c.769G>A, NM_001256654.1:c.769G>A, XM_047439314.1:c.946G>A, XM_047439316.1:c.769G>A, XM_047439315.1:c.946G>A, NP_003414.2:p.Ala322Thr, XP_016882696.1:p.Ala316Thr, XP_016882698.1:p.Ala316Thr, XP_016882702.1:p.Ala316Thr, XP_016882700.1:p.Ala316Thr, XP_016882697.1:p.Ala316Thr, XP_016882701.1:p.Ala316Thr, XP_016882703.1:p.Ala316Thr, NP_001243577.1:p.Ala316Thr, NP_001243578.1:p.Ala316Thr, NP_001243579.1:p.Ala316Thr, NP_001243582.1:p.Ala331Thr, NP_001243580.1:p.Ala257Thr, NP_001243583.1:p.Ala257Thr, XP_047295270.1:p.Ala316Thr, XP_047295272.1:p.Ala257Thr, XP_047295271.1:p.Ala316Thr

                          13.

                          rs1480306999 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:21807724 (GRCh38)
                            19:21990526 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:21807723:G:A
                            Gene:
                            ZNF43 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000019.10:g.21807724G>A, NC_000019.9:g.21990526G>A, NW_003315964.2:g.168914G>A, NM_003423.4:c.2313C>T, NM_003423.3:c.2313C>T, XM_017027207.3:c.2295C>T, XM_017027207.2:c.2295C>T, XM_017027207.1:c.2295C>T, XM_017027209.3:c.2295C>T, XM_017027209.2:c.2295C>T, XM_017027209.1:c.2295C>T, XM_017027213.3:c.2295C>T, XM_017027213.2:c.2295C>T, XM_017027213.1:c.2295C>T, XM_017027211.3:c.2295C>T, XM_017027211.2:c.2295C>T, XM_017027211.1:c.2295C>T, XM_017027208.3:c.2295C>T, XM_017027208.2:c.2295C>T, XM_017027208.1:c.2295C>T, XM_017027212.3:c.2295C>T, XM_017027212.2:c.2295C>T, XM_017027212.1:c.2295C>T, XM_017027214.3:c.2295C>T, XM_017027214.2:c.2295C>T, XM_017027214.1:c.2295C>T, NM_001256648.2:c.2295C>T, NM_001256648.1:c.2295C>T, NM_001256654.2:c.2118C>T, NM_001256654.1:c.2118C>T, NM_001256649.2:c.2295C>T, NM_001256649.1:c.2295C>T, NM_001256653.2:c.2340C>T, NM_001256653.1:c.2340C>T, NM_001256651.2:c.2118C>T, NM_001256651.1:c.2118C>T, NM_001256650.2:c.2295C>T, NM_001256650.1:c.2295C>T, XM_047439314.1:c.2295C>T, XM_047439316.1:c.2118C>T, XM_047439315.1:c.2295C>T

                            14.

                            rs1477667138 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              19:21809404 (GRCh38)
                              19:21992206 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:21809403:A:G
                              Gene:
                              ZNF43 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000011/3 (TOPMED)
                              G=0.000021/3 (GnomAD)
                              HGVS:
                              NC_000019.10:g.21809404A>G, NC_000019.9:g.21992206A>G, NM_003423.4:c.633T>C, NM_003423.3:c.633T>C, XM_017027207.3:c.615T>C, XM_017027207.2:c.615T>C, XM_017027207.1:c.615T>C, XM_017027209.3:c.615T>C, XM_017027209.2:c.615T>C, XM_017027209.1:c.615T>C, XM_017027213.3:c.615T>C, XM_017027213.2:c.615T>C, XM_017027213.1:c.615T>C, XM_017027211.3:c.615T>C, XM_017027211.2:c.615T>C, XM_017027211.1:c.615T>C, XM_017027208.3:c.615T>C, XM_017027208.2:c.615T>C, XM_017027208.1:c.615T>C, XM_017027212.3:c.615T>C, XM_017027212.2:c.615T>C, XM_017027212.1:c.615T>C, XM_017027214.3:c.615T>C, XM_017027214.2:c.615T>C, XM_017027214.1:c.615T>C, NM_001256648.2:c.615T>C, NM_001256648.1:c.615T>C, NM_001256649.2:c.615T>C, NM_001256649.1:c.615T>C, NM_001256650.2:c.615T>C, NM_001256650.1:c.615T>C, NM_001256653.2:c.660T>C, NM_001256653.1:c.660T>C, NM_001256651.2:c.438T>C, NM_001256651.1:c.438T>C, NM_001256654.2:c.438T>C, NM_001256654.1:c.438T>C, XM_047439314.1:c.615T>C, XM_047439316.1:c.438T>C, XM_047439315.1:c.615T>C

                              15.

                              rs1476072311 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                19:21808979 (GRCh38)
                                19:21991781 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:21808978:T:C
                                Gene:
                                ZNF43 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000019.10:g.21808979T>C, NC_000019.9:g.21991781T>C, NW_003315964.2:g.170169T>C, NM_003423.4:c.1058A>G, NM_003423.3:c.1058A>G, XM_017027207.3:c.1040A>G, XM_017027207.2:c.1040A>G, XM_017027207.1:c.1040A>G, XM_017027209.3:c.1040A>G, XM_017027209.2:c.1040A>G, XM_017027209.1:c.1040A>G, XM_017027213.3:c.1040A>G, XM_017027213.2:c.1040A>G, XM_017027213.1:c.1040A>G, XM_017027211.3:c.1040A>G, XM_017027211.2:c.1040A>G, XM_017027211.1:c.1040A>G, XM_017027208.3:c.1040A>G, XM_017027208.2:c.1040A>G, XM_017027208.1:c.1040A>G, XM_017027212.3:c.1040A>G, XM_017027212.2:c.1040A>G, XM_017027212.1:c.1040A>G, XM_017027214.3:c.1040A>G, XM_017027214.2:c.1040A>G, XM_017027214.1:c.1040A>G, NM_001256648.2:c.1040A>G, NM_001256648.1:c.1040A>G, NM_001256654.2:c.863A>G, NM_001256654.1:c.863A>G, NM_001256649.2:c.1040A>G, NM_001256649.1:c.1040A>G, NM_001256653.2:c.1085A>G, NM_001256653.1:c.1085A>G, NM_001256651.2:c.863A>G, NM_001256651.1:c.863A>G, NM_001256650.2:c.1040A>G, NM_001256650.1:c.1040A>G, XM_047439314.1:c.1040A>G, XM_047439316.1:c.863A>G, XM_047439315.1:c.1040A>G, NP_003414.2:p.Gln353Arg, XP_016882696.1:p.Gln347Arg, XP_016882698.1:p.Gln347Arg, XP_016882702.1:p.Gln347Arg, XP_016882700.1:p.Gln347Arg, XP_016882697.1:p.Gln347Arg, XP_016882701.1:p.Gln347Arg, XP_016882703.1:p.Gln347Arg, NP_001243577.1:p.Gln347Arg, NP_001243583.1:p.Gln288Arg, NP_001243578.1:p.Gln347Arg, NP_001243582.1:p.Gln362Arg, NP_001243580.1:p.Gln288Arg, NP_001243579.1:p.Gln347Arg, XP_047295270.1:p.Gln347Arg, XP_047295272.1:p.Gln288Arg, XP_047295271.1:p.Gln347Arg

                                16.

                                rs1473408585 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  19:21809144 (GRCh38)
                                  19:21991946 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:21809143:G:T
                                  Gene:
                                  ZNF43 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.21809144G>T, NC_000019.9:g.21991946G>T, NM_003423.4:c.893C>A, NM_003423.3:c.893C>A, XM_017027207.3:c.875C>A, XM_017027207.2:c.875C>A, XM_017027207.1:c.875C>A, XM_017027209.3:c.875C>A, XM_017027209.2:c.875C>A, XM_017027209.1:c.875C>A, XM_017027213.3:c.875C>A, XM_017027213.2:c.875C>A, XM_017027213.1:c.875C>A, XM_017027211.3:c.875C>A, XM_017027211.2:c.875C>A, XM_017027211.1:c.875C>A, XM_017027208.3:c.875C>A, XM_017027208.2:c.875C>A, XM_017027208.1:c.875C>A, XM_017027212.3:c.875C>A, XM_017027212.2:c.875C>A, XM_017027212.1:c.875C>A, XM_017027214.3:c.875C>A, XM_017027214.2:c.875C>A, XM_017027214.1:c.875C>A, NM_001256648.2:c.875C>A, NM_001256648.1:c.875C>A, NM_001256649.2:c.875C>A, NM_001256649.1:c.875C>A, NM_001256650.2:c.875C>A, NM_001256650.1:c.875C>A, NM_001256653.2:c.920C>A, NM_001256653.1:c.920C>A, NM_001256651.2:c.698C>A, NM_001256651.1:c.698C>A, NM_001256654.2:c.698C>A, NM_001256654.1:c.698C>A, XM_047439314.1:c.875C>A, XM_047439316.1:c.698C>A, XM_047439315.1:c.875C>A, NP_003414.2:p.Ser298Tyr, XP_016882696.1:p.Ser292Tyr, XP_016882698.1:p.Ser292Tyr, XP_016882702.1:p.Ser292Tyr, XP_016882700.1:p.Ser292Tyr, XP_016882697.1:p.Ser292Tyr, XP_016882701.1:p.Ser292Tyr, XP_016882703.1:p.Ser292Tyr, NP_001243577.1:p.Ser292Tyr, NP_001243578.1:p.Ser292Tyr, NP_001243579.1:p.Ser292Tyr, NP_001243582.1:p.Ser307Tyr, NP_001243580.1:p.Ser233Tyr, NP_001243583.1:p.Ser233Tyr, XP_047295270.1:p.Ser292Tyr, XP_047295272.1:p.Ser233Tyr, XP_047295271.1:p.Ser292Tyr

                                  17.

                                  rs1471410873 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    19:21808787 (GRCh38)
                                    19:21991589 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:21808786:T:G
                                    Gene:
                                    ZNF43 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000019.10:g.21808787T>G, NC_000019.9:g.21991589T>G, NW_003315964.2:g.169977T>G, NM_003423.4:c.1250A>C, NM_003423.3:c.1250A>C, XM_017027207.3:c.1232A>C, XM_017027207.2:c.1232A>C, XM_017027207.1:c.1232A>C, XM_017027209.3:c.1232A>C, XM_017027209.2:c.1232A>C, XM_017027209.1:c.1232A>C, XM_017027213.3:c.1232A>C, XM_017027213.2:c.1232A>C, XM_017027213.1:c.1232A>C, XM_017027211.3:c.1232A>C, XM_017027211.2:c.1232A>C, XM_017027211.1:c.1232A>C, XM_017027208.3:c.1232A>C, XM_017027208.2:c.1232A>C, XM_017027208.1:c.1232A>C, XM_017027212.3:c.1232A>C, XM_017027212.2:c.1232A>C, XM_017027212.1:c.1232A>C, XM_017027214.3:c.1232A>C, XM_017027214.2:c.1232A>C, XM_017027214.1:c.1232A>C, NM_001256648.2:c.1232A>C, NM_001256648.1:c.1232A>C, NM_001256654.2:c.1055A>C, NM_001256654.1:c.1055A>C, NM_001256649.2:c.1232A>C, NM_001256649.1:c.1232A>C, NM_001256653.2:c.1277A>C, NM_001256653.1:c.1277A>C, NM_001256651.2:c.1055A>C, NM_001256651.1:c.1055A>C, NM_001256650.2:c.1232A>C, NM_001256650.1:c.1232A>C, XM_047439314.1:c.1232A>C, XM_047439316.1:c.1055A>C, XM_047439315.1:c.1232A>C, NP_003414.2:p.Lys417Thr, XP_016882696.1:p.Lys411Thr, XP_016882698.1:p.Lys411Thr, XP_016882702.1:p.Lys411Thr, XP_016882700.1:p.Lys411Thr, XP_016882697.1:p.Lys411Thr, XP_016882701.1:p.Lys411Thr, XP_016882703.1:p.Lys411Thr, NP_001243577.1:p.Lys411Thr, NP_001243583.1:p.Lys352Thr, NP_001243578.1:p.Lys411Thr, NP_001243582.1:p.Lys426Thr, NP_001243580.1:p.Lys352Thr, NP_001243579.1:p.Lys411Thr, XP_047295270.1:p.Lys411Thr, XP_047295272.1:p.Lys352Thr, XP_047295271.1:p.Lys411Thr

                                    18.

                                    rs1469082372 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:21808082 (GRCh38)
                                      19:21990884 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:21808081:C:T
                                      Gene:
                                      ZNF43 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000019.10:g.21808082C>T, NC_000019.9:g.21990884C>T, NW_003315964.2:g.169272C>T, NM_003423.4:c.1955G>A, NM_003423.3:c.1955G>A, XM_017027207.3:c.1937G>A, XM_017027207.2:c.1937G>A, XM_017027207.1:c.1937G>A, XM_017027209.3:c.1937G>A, XM_017027209.2:c.1937G>A, XM_017027209.1:c.1937G>A, XM_017027213.3:c.1937G>A, XM_017027213.2:c.1937G>A, XM_017027213.1:c.1937G>A, XM_017027211.3:c.1937G>A, XM_017027211.2:c.1937G>A, XM_017027211.1:c.1937G>A, XM_017027208.3:c.1937G>A, XM_017027208.2:c.1937G>A, XM_017027208.1:c.1937G>A, XM_017027212.3:c.1937G>A, XM_017027212.2:c.1937G>A, XM_017027212.1:c.1937G>A, XM_017027214.3:c.1937G>A, XM_017027214.2:c.1937G>A, XM_017027214.1:c.1937G>A, NM_001256648.2:c.1937G>A, NM_001256648.1:c.1937G>A, NM_001256654.2:c.1760G>A, NM_001256654.1:c.1760G>A, NM_001256649.2:c.1937G>A, NM_001256649.1:c.1937G>A, NM_001256653.2:c.1982G>A, NM_001256653.1:c.1982G>A, NM_001256651.2:c.1760G>A, NM_001256651.1:c.1760G>A, NM_001256650.2:c.1937G>A, NM_001256650.1:c.1937G>A, XM_047439314.1:c.1937G>A, XM_047439316.1:c.1760G>A, XM_047439315.1:c.1937G>A, NP_003414.2:p.Cys652Tyr, XP_016882696.1:p.Cys646Tyr, XP_016882698.1:p.Cys646Tyr, XP_016882702.1:p.Cys646Tyr, XP_016882700.1:p.Cys646Tyr, XP_016882697.1:p.Cys646Tyr, XP_016882701.1:p.Cys646Tyr, XP_016882703.1:p.Cys646Tyr, NP_001243577.1:p.Cys646Tyr, NP_001243583.1:p.Cys587Tyr, NP_001243578.1:p.Cys646Tyr, NP_001243582.1:p.Cys661Tyr, NP_001243580.1:p.Cys587Tyr, NP_001243579.1:p.Cys646Tyr, XP_047295270.1:p.Cys646Tyr, XP_047295272.1:p.Cys587Tyr, XP_047295271.1:p.Cys646Tyr

                                      19.

                                      rs1468859577 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        19:21809588 (GRCh38)
                                        19:21992390 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:21809587:T:C,NC_000019.10:21809587:T:G
                                        Gene:
                                        ZNF43 (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)
                                        G=0.000035/1 (TOMMO)
                                        HGVS:
                                        NC_000019.10:g.21809588T>C, NC_000019.10:g.21809588T>G, NC_000019.9:g.21992390T>C, NC_000019.9:g.21992390T>G, NM_003423.4:c.449A>G, NM_003423.4:c.449A>C, NM_003423.3:c.449A>G, NM_003423.3:c.449A>C, XM_017027207.3:c.431A>G, XM_017027207.3:c.431A>C, XM_017027207.2:c.431A>G, XM_017027207.2:c.431A>C, XM_017027207.1:c.431A>G, XM_017027207.1:c.431A>C, XM_017027209.3:c.431A>G, XM_017027209.3:c.431A>C, XM_017027209.2:c.431A>G, XM_017027209.2:c.431A>C, XM_017027209.1:c.431A>G, XM_017027209.1:c.431A>C, XM_017027213.3:c.431A>G, XM_017027213.3:c.431A>C, XM_017027213.2:c.431A>G, XM_017027213.2:c.431A>C, XM_017027213.1:c.431A>G, XM_017027213.1:c.431A>C, XM_017027211.3:c.431A>G, XM_017027211.3:c.431A>C, XM_017027211.2:c.431A>G, XM_017027211.2:c.431A>C, XM_017027211.1:c.431A>G, XM_017027211.1:c.431A>C, XM_017027208.3:c.431A>G, XM_017027208.3:c.431A>C, XM_017027208.2:c.431A>G, XM_017027208.2:c.431A>C, XM_017027208.1:c.431A>G, XM_017027208.1:c.431A>C, XM_017027212.3:c.431A>G, XM_017027212.3:c.431A>C, XM_017027212.2:c.431A>G, XM_017027212.2:c.431A>C, XM_017027212.1:c.431A>G, XM_017027212.1:c.431A>C, XM_017027214.3:c.431A>G, XM_017027214.3:c.431A>C, XM_017027214.2:c.431A>G, XM_017027214.2:c.431A>C, XM_017027214.1:c.431A>G, XM_017027214.1:c.431A>C, NM_001256648.2:c.431A>G, NM_001256648.2:c.431A>C, NM_001256648.1:c.431A>G, NM_001256648.1:c.431A>C, NM_001256649.2:c.431A>G, NM_001256649.2:c.431A>C, NM_001256649.1:c.431A>G, NM_001256649.1:c.431A>C, NM_001256650.2:c.431A>G, NM_001256650.2:c.431A>C, NM_001256650.1:c.431A>G, NM_001256650.1:c.431A>C, NM_001256653.2:c.476A>G, NM_001256653.2:c.476A>C, NM_001256653.1:c.476A>G, NM_001256653.1:c.476A>C, NM_001256651.2:c.254A>G, NM_001256651.2:c.254A>C, NM_001256651.1:c.254A>G, NM_001256651.1:c.254A>C, NM_001256654.2:c.254A>G, NM_001256654.2:c.254A>C, NM_001256654.1:c.254A>G, NM_001256654.1:c.254A>C, XM_047439314.1:c.431A>G, XM_047439314.1:c.431A>C, XM_047439316.1:c.254A>G, XM_047439316.1:c.254A>C, XM_047439315.1:c.431A>G, XM_047439315.1:c.431A>C, NP_003414.2:p.Lys150Arg, NP_003414.2:p.Lys150Thr, XP_016882696.1:p.Lys144Arg, XP_016882696.1:p.Lys144Thr, XP_016882698.1:p.Lys144Arg, XP_016882698.1:p.Lys144Thr, XP_016882702.1:p.Lys144Arg, XP_016882702.1:p.Lys144Thr, XP_016882700.1:p.Lys144Arg, XP_016882700.1:p.Lys144Thr, XP_016882697.1:p.Lys144Arg, XP_016882697.1:p.Lys144Thr, XP_016882701.1:p.Lys144Arg, XP_016882701.1:p.Lys144Thr, XP_016882703.1:p.Lys144Arg, XP_016882703.1:p.Lys144Thr, NP_001243577.1:p.Lys144Arg, NP_001243577.1:p.Lys144Thr, NP_001243578.1:p.Lys144Arg, NP_001243578.1:p.Lys144Thr, NP_001243579.1:p.Lys144Arg, NP_001243579.1:p.Lys144Thr, NP_001243582.1:p.Lys159Arg, NP_001243582.1:p.Lys159Thr, NP_001243580.1:p.Lys85Arg, NP_001243580.1:p.Lys85Thr, NP_001243583.1:p.Lys85Arg, NP_001243583.1:p.Lys85Thr, XP_047295270.1:p.Lys144Arg, XP_047295270.1:p.Lys144Thr, XP_047295272.1:p.Lys85Arg, XP_047295272.1:p.Lys85Thr, XP_047295271.1:p.Lys144Arg, XP_047295271.1:p.Lys144Thr

                                        20.

                                        rs1468820756 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          19:21808908 (GRCh38)
                                          19:21991710 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:21808907:C:T
                                          Gene:
                                          ZNF43 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000425/7 (TOMMO)
                                          HGVS:
                                          NC_000019.10:g.21808908C>T, NC_000019.9:g.21991710C>T, NW_003315964.2:g.170098C>T, NM_003423.4:c.1129G>A, NM_003423.3:c.1129G>A, XM_017027207.3:c.1111G>A, XM_017027207.2:c.1111G>A, XM_017027207.1:c.1111G>A, XM_017027209.3:c.1111G>A, XM_017027209.2:c.1111G>A, XM_017027209.1:c.1111G>A, XM_017027213.3:c.1111G>A, XM_017027213.2:c.1111G>A, XM_017027213.1:c.1111G>A, XM_017027211.3:c.1111G>A, XM_017027211.2:c.1111G>A, XM_017027211.1:c.1111G>A, XM_017027208.3:c.1111G>A, XM_017027208.2:c.1111G>A, XM_017027208.1:c.1111G>A, XM_017027212.3:c.1111G>A, XM_017027212.2:c.1111G>A, XM_017027212.1:c.1111G>A, XM_017027214.3:c.1111G>A, XM_017027214.2:c.1111G>A, XM_017027214.1:c.1111G>A, NM_001256648.2:c.1111G>A, NM_001256648.1:c.1111G>A, NM_001256654.2:c.934G>A, NM_001256654.1:c.934G>A, NM_001256649.2:c.1111G>A, NM_001256649.1:c.1111G>A, NM_001256653.2:c.1156G>A, NM_001256653.1:c.1156G>A, NM_001256651.2:c.934G>A, NM_001256651.1:c.934G>A, NM_001256650.2:c.1111G>A, NM_001256650.1:c.1111G>A, XM_047439314.1:c.1111G>A, XM_047439316.1:c.934G>A, XM_047439315.1:c.1111G>A, NP_003414.2:p.Glu377Lys, XP_016882696.1:p.Glu371Lys, XP_016882698.1:p.Glu371Lys, XP_016882702.1:p.Glu371Lys, XP_016882700.1:p.Glu371Lys, XP_016882697.1:p.Glu371Lys, XP_016882701.1:p.Glu371Lys, XP_016882703.1:p.Glu371Lys, NP_001243577.1:p.Glu371Lys, NP_001243583.1:p.Glu312Lys, NP_001243578.1:p.Glu371Lys, NP_001243582.1:p.Glu386Lys, NP_001243580.1:p.Glu312Lys, NP_001243579.1:p.Glu371Lys, XP_047295270.1:p.Glu371Lys, XP_047295272.1:p.Glu312Lys, XP_047295271.1:p.Glu371Lys

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