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Items: 1 to 20 of 319

1.

rs1489541241 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    2:27087326 (GRCh38)
    2:27310194 (GRCh37)
    Canonical SPDI:
    NC_000002.12:27087325:T:C
    Gene:
    KHK (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000005/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.27087326T>C, NC_000002.11:g.27310194T>C, NG_012199.2:g.5584T>C, NM_006488.3:c.67T>C, NM_006488.2:c.67T>C, NM_000221.3:c.67T>C, NM_000221.2:c.67T>C, NG_046849.1:g.13760T>C, XM_005264294.5:c.67T>C, XM_005264294.4:c.67T>C, XM_005264294.3:c.67T>C, XM_005264294.2:c.67T>C, XM_005264294.1:c.67T>C, XM_005264296.5:c.67T>C, XM_005264296.4:c.67T>C, XM_005264296.3:c.67T>C, XM_005264296.2:c.67T>C, XM_005264296.1:c.67T>C, XM_005264298.5:c.67T>C, XM_005264298.4:c.67T>C, XM_005264298.3:c.67T>C, XM_005264298.2:c.67T>C, XM_005264298.1:c.67T>C, XM_006712008.5:c.67T>C, XM_006712008.4:c.67T>C, XM_006712008.3:c.67T>C, XM_006712008.2:c.67T>C, XM_006712008.1:c.67T>C, XM_006712009.5:c.67T>C, XM_006712009.4:c.67T>C, XM_006712009.3:c.67T>C, XM_006712009.2:c.67T>C, XM_006712009.1:c.67T>C, XM_006712010.5:c.67T>C, XM_006712010.4:c.67T>C, XM_006712010.3:c.67T>C, XM_006712010.2:c.67T>C, XM_006712010.1:c.67T>C, XM_006712012.5:c.67T>C, XM_006712012.4:c.67T>C, XM_006712012.3:c.67T>C, XM_006712012.2:c.67T>C, XM_006712012.1:c.67T>C, XM_006712011.5:c.67T>C, XM_006712011.4:c.67T>C, XM_006712011.3:c.67T>C, XM_006712011.2:c.67T>C, XM_006712011.1:c.67T>C, XM_006712013.5:c.67T>C, XM_006712013.4:c.67T>C, XM_006712013.3:c.67T>C, XM_006712013.2:c.67T>C, XM_006712013.1:c.67T>C, XM_006712014.5:c.67T>C, XM_006712014.4:c.67T>C, XM_006712014.3:c.67T>C, XM_006712014.2:c.67T>C, XM_006712014.1:c.67T>C, XM_017004060.3:c.67T>C, XM_017004060.2:c.67T>C, XM_017004060.1:c.67T>C, XM_017004061.3:c.67T>C, XM_017004061.2:c.67T>C, XM_017004061.1:c.67T>C, NP_006479.1:p.Tyr23His, NP_000212.1:p.Tyr23His, XP_005264351.1:p.Tyr23His, XP_005264353.1:p.Tyr23His, XP_005264355.1:p.Tyr23His, XP_006712071.1:p.Tyr23His, XP_006712072.1:p.Tyr23His, XP_006712073.1:p.Tyr23His, XP_006712075.1:p.Tyr23His, XP_006712074.1:p.Tyr23His, XP_006712076.1:p.Tyr23His, XP_006712077.1:p.Tyr23His, XP_016859549.1:p.Tyr23His, XP_016859550.1:p.Tyr23His

    2.

    rs1484627548 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      2:27097875 (GRCh38)
      2:27320743 (GRCh37)
      Canonical SPDI:
      NC_000002.12:27097874:G:A,NC_000002.12:27097874:G:T
      Gene:
      KHK (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000002.12:g.27097875G>A, NC_000002.12:g.27097875G>T, NC_000002.11:g.27320743G>A, NC_000002.11:g.27320743G>T, NG_012199.2:g.16133G>A, NG_012199.2:g.16133G>T, XM_006712008.5:c.928G>A, XM_006712008.5:c.928G>T, XM_006712008.4:c.928G>A, XM_006712008.4:c.928G>T, XM_006712008.3:c.928G>A, XM_006712008.3:c.928G>T, XM_006712008.2:c.928G>A, XM_006712008.2:c.928G>T, XM_006712008.1:c.928G>A, XM_006712008.1:c.928G>T, XM_006712009.5:c.925G>A, XM_006712009.5:c.925G>T, XM_006712009.4:c.925G>A, XM_006712009.4:c.925G>T, XM_006712009.3:c.925G>A, XM_006712009.3:c.925G>T, XM_006712009.2:c.925G>A, XM_006712009.2:c.925G>T, XM_006712009.1:c.925G>A, XM_006712009.1:c.925G>T, XM_006712010.5:c.793G>A, XM_006712010.5:c.793G>T, XM_006712010.4:c.793G>A, XM_006712010.4:c.793G>T, XM_006712010.3:c.793G>A, XM_006712010.3:c.793G>T, XM_006712010.2:c.793G>A, XM_006712010.2:c.793G>T, XM_006712010.1:c.793G>A, XM_006712010.1:c.793G>T, XM_006712012.5:c.790G>A, XM_006712012.5:c.790G>T, XM_006712012.4:c.790G>A, XM_006712012.4:c.790G>T, XM_006712012.3:c.790G>A, XM_006712012.3:c.790G>T, XM_006712012.2:c.790G>A, XM_006712012.2:c.790G>T, XM_006712012.1:c.790G>A, XM_006712012.1:c.790G>T, XM_006712011.5:c.790G>A, XM_006712011.5:c.790G>T, XM_006712011.4:c.790G>A, XM_006712011.4:c.790G>T, XM_006712011.3:c.790G>A, XM_006712011.3:c.790G>T, XM_006712011.2:c.790G>A, XM_006712011.2:c.790G>T, XM_006712011.1:c.790G>A, XM_006712011.1:c.790G>T, XM_006712013.5:c.655G>A, XM_006712013.5:c.655G>T, XM_006712013.4:c.655G>A, XM_006712013.4:c.655G>T, XM_006712013.3:c.655G>A, XM_006712013.3:c.655G>T, XM_006712013.2:c.655G>A, XM_006712013.2:c.655G>T, XM_006712013.1:c.655G>A, XM_006712013.1:c.655G>T, XM_006712014.5:c.538G>A, XM_006712014.5:c.538G>T, XM_006712014.4:c.538G>A, XM_006712014.4:c.538G>T, XM_006712014.3:c.538G>A, XM_006712014.3:c.538G>T, XM_006712014.2:c.538G>A, XM_006712014.2:c.538G>T, XM_006712014.1:c.538G>A, XM_006712014.1:c.538G>T, XP_006712071.1:p.Val310Met, XP_006712071.1:p.Val310Leu, XP_006712072.1:p.Val309Met, XP_006712072.1:p.Val309Leu, XP_006712073.1:p.Val265Met, XP_006712073.1:p.Val265Leu, XP_006712075.1:p.Val264Met, XP_006712075.1:p.Val264Leu, XP_006712074.1:p.Val264Met, XP_006712074.1:p.Val264Leu, XP_006712076.1:p.Val219Met, XP_006712076.1:p.Val219Leu, XP_006712077.1:p.Val180Met, XP_006712077.1:p.Val180Leu

      3.

      rs1482584405 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        2:27094870 (GRCh38)
        2:27317738 (GRCh37)
        Canonical SPDI:
        NC_000002.12:27094869:A:C,NC_000002.12:27094869:A:G
        Gene:
        KHK (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        C=0.009825/18 (Korea1K)
        HGVS:
        NC_000002.12:g.27094870A>C, NC_000002.12:g.27094870A>G, NC_000002.11:g.27317738A>C, NC_000002.11:g.27317738A>G, NG_012199.2:g.13128A>C, NG_012199.2:g.13128A>G, NM_006488.3:c.280A>C, NM_006488.3:c.280A>G, NM_006488.2:c.280A>C, NM_006488.2:c.280A>G, XM_005264294.5:c.418A>C, XM_005264294.5:c.418A>G, XM_005264294.4:c.418A>C, XM_005264294.4:c.418A>G, XM_005264294.3:c.418A>C, XM_005264294.3:c.418A>G, XM_005264294.2:c.418A>C, XM_005264294.2:c.418A>G, XM_005264294.1:c.418A>C, XM_005264294.1:c.418A>G, XM_006712008.5:c.418A>C, XM_006712008.5:c.418A>G, XM_006712008.4:c.418A>C, XM_006712008.4:c.418A>G, XM_006712008.3:c.418A>C, XM_006712008.3:c.418A>G, XM_006712008.2:c.418A>C, XM_006712008.2:c.418A>G, XM_006712008.1:c.418A>C, XM_006712008.1:c.418A>G, XM_006712009.5:c.415A>C, XM_006712009.5:c.415A>G, XM_006712009.4:c.415A>C, XM_006712009.4:c.415A>G, XM_006712009.3:c.415A>C, XM_006712009.3:c.415A>G, XM_006712009.2:c.415A>C, XM_006712009.2:c.415A>G, XM_006712009.1:c.415A>C, XM_006712009.1:c.415A>G, XM_006712011.5:c.280A>C, XM_006712011.5:c.280A>G, XM_006712011.4:c.280A>C, XM_006712011.4:c.280A>G, XM_006712011.3:c.280A>C, XM_006712011.3:c.280A>G, XM_006712011.2:c.280A>C, XM_006712011.2:c.280A>G, XM_006712011.1:c.280A>C, XM_006712011.1:c.280A>G, XM_017004060.3:c.415A>C, XM_017004060.3:c.415A>G, XM_017004060.2:c.415A>C, XM_017004060.2:c.415A>G, XM_017004060.1:c.415A>C, XM_017004060.1:c.415A>G, NP_006479.1:p.Thr94Pro, NP_006479.1:p.Thr94Ala, XP_005264351.1:p.Thr140Pro, XP_005264351.1:p.Thr140Ala, XP_006712071.1:p.Thr140Pro, XP_006712071.1:p.Thr140Ala, XP_006712072.1:p.Thr139Pro, XP_006712072.1:p.Thr139Ala, XP_006712074.1:p.Thr94Pro, XP_006712074.1:p.Thr94Ala, XP_016859549.1:p.Thr139Pro, XP_016859549.1:p.Thr139Ala

        4.

        rs1479357924 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          2:27097694 (GRCh38)
          2:27320562 (GRCh37)
          Canonical SPDI:
          NC_000002.12:27097693:G:A,NC_000002.12:27097693:G:T
          Gene:
          KHK (Varview)
          Functional Consequence:
          synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.27097694G>A, NC_000002.12:g.27097694G>T, NC_000002.11:g.27320562G>A, NC_000002.11:g.27320562G>T, NG_012199.2:g.15952G>A, NG_012199.2:g.15952G>T, XM_006712008.5:c.747G>A, XM_006712008.5:c.747G>T, XM_006712008.4:c.747G>A, XM_006712008.4:c.747G>T, XM_006712008.3:c.747G>A, XM_006712008.3:c.747G>T, XM_006712008.2:c.747G>A, XM_006712008.2:c.747G>T, XM_006712008.1:c.747G>A, XM_006712008.1:c.747G>T, XM_006712009.5:c.744G>A, XM_006712009.5:c.744G>T, XM_006712009.4:c.744G>A, XM_006712009.4:c.744G>T, XM_006712009.3:c.744G>A, XM_006712009.3:c.744G>T, XM_006712009.2:c.744G>A, XM_006712009.2:c.744G>T, XM_006712009.1:c.744G>A, XM_006712009.1:c.744G>T, XM_006712010.5:c.612G>A, XM_006712010.5:c.612G>T, XM_006712010.4:c.612G>A, XM_006712010.4:c.612G>T, XM_006712010.3:c.612G>A, XM_006712010.3:c.612G>T, XM_006712010.2:c.612G>A, XM_006712010.2:c.612G>T, XM_006712010.1:c.612G>A, XM_006712010.1:c.612G>T, XM_006712012.5:c.609G>A, XM_006712012.5:c.609G>T, XM_006712012.4:c.609G>A, XM_006712012.4:c.609G>T, XM_006712012.3:c.609G>A, XM_006712012.3:c.609G>T, XM_006712012.2:c.609G>A, XM_006712012.2:c.609G>T, XM_006712012.1:c.609G>A, XM_006712012.1:c.609G>T, XM_006712011.5:c.609G>A, XM_006712011.5:c.609G>T, XM_006712011.4:c.609G>A, XM_006712011.4:c.609G>T, XM_006712011.3:c.609G>A, XM_006712011.3:c.609G>T, XM_006712011.2:c.609G>A, XM_006712011.2:c.609G>T, XM_006712011.1:c.609G>A, XM_006712011.1:c.609G>T, XM_006712013.5:c.474G>A, XM_006712013.5:c.474G>T, XM_006712013.4:c.474G>A, XM_006712013.4:c.474G>T, XM_006712013.3:c.474G>A, XM_006712013.3:c.474G>T, XM_006712013.2:c.474G>A, XM_006712013.2:c.474G>T, XM_006712013.1:c.474G>A, XM_006712013.1:c.474G>T, XM_006712014.5:c.357G>A, XM_006712014.5:c.357G>T, XM_006712014.4:c.357G>A, XM_006712014.4:c.357G>T, XM_006712014.3:c.357G>A, XM_006712014.3:c.357G>T, XM_006712014.2:c.357G>A, XM_006712014.2:c.357G>T, XM_006712014.1:c.357G>A, XM_006712014.1:c.357G>T, XP_006712071.1:p.Leu249Phe, XP_006712072.1:p.Leu248Phe, XP_006712073.1:p.Leu204Phe, XP_006712075.1:p.Leu203Phe, XP_006712074.1:p.Leu203Phe, XP_006712076.1:p.Leu158Phe, XP_006712077.1:p.Leu119Phe

          5.

          rs1477879787 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G [Show Flanks]
            Chromosome:
            2:27097879 (GRCh38)
            2:27320747 (GRCh37)
            Canonical SPDI:
            NC_000002.12:27097878:A:C,NC_000002.12:27097878:A:G
            Gene:
            KHK (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            HGVS:
            NC_000002.12:g.27097879A>C, NC_000002.12:g.27097879A>G, NC_000002.11:g.27320747A>C, NC_000002.11:g.27320747A>G, NG_012199.2:g.16137A>C, NG_012199.2:g.16137A>G, XM_006712008.5:c.932A>C, XM_006712008.5:c.932A>G, XM_006712008.4:c.932A>C, XM_006712008.4:c.932A>G, XM_006712008.3:c.932A>C, XM_006712008.3:c.932A>G, XM_006712008.2:c.932A>C, XM_006712008.2:c.932A>G, XM_006712008.1:c.932A>C, XM_006712008.1:c.932A>G, XM_006712009.5:c.929A>C, XM_006712009.5:c.929A>G, XM_006712009.4:c.929A>C, XM_006712009.4:c.929A>G, XM_006712009.3:c.929A>C, XM_006712009.3:c.929A>G, XM_006712009.2:c.929A>C, XM_006712009.2:c.929A>G, XM_006712009.1:c.929A>C, XM_006712009.1:c.929A>G, XM_006712010.5:c.797A>C, XM_006712010.5:c.797A>G, XM_006712010.4:c.797A>C, XM_006712010.4:c.797A>G, XM_006712010.3:c.797A>C, XM_006712010.3:c.797A>G, XM_006712010.2:c.797A>C, XM_006712010.2:c.797A>G, XM_006712010.1:c.797A>C, XM_006712010.1:c.797A>G, XM_006712012.5:c.794A>C, XM_006712012.5:c.794A>G, XM_006712012.4:c.794A>C, XM_006712012.4:c.794A>G, XM_006712012.3:c.794A>C, XM_006712012.3:c.794A>G, XM_006712012.2:c.794A>C, XM_006712012.2:c.794A>G, XM_006712012.1:c.794A>C, XM_006712012.1:c.794A>G, XM_006712011.5:c.794A>C, XM_006712011.5:c.794A>G, XM_006712011.4:c.794A>C, XM_006712011.4:c.794A>G, XM_006712011.3:c.794A>C, XM_006712011.3:c.794A>G, XM_006712011.2:c.794A>C, XM_006712011.2:c.794A>G, XM_006712011.1:c.794A>C, XM_006712011.1:c.794A>G, XM_006712013.5:c.659A>C, XM_006712013.5:c.659A>G, XM_006712013.4:c.659A>C, XM_006712013.4:c.659A>G, XM_006712013.3:c.659A>C, XM_006712013.3:c.659A>G, XM_006712013.2:c.659A>C, XM_006712013.2:c.659A>G, XM_006712013.1:c.659A>C, XM_006712013.1:c.659A>G, XM_006712014.5:c.542A>C, XM_006712014.5:c.542A>G, XM_006712014.4:c.542A>C, XM_006712014.4:c.542A>G, XM_006712014.3:c.542A>C, XM_006712014.3:c.542A>G, XM_006712014.2:c.542A>C, XM_006712014.2:c.542A>G, XM_006712014.1:c.542A>C, XM_006712014.1:c.542A>G, XP_006712071.1:p.His311Pro, XP_006712071.1:p.His311Arg, XP_006712072.1:p.His310Pro, XP_006712072.1:p.His310Arg, XP_006712073.1:p.His266Pro, XP_006712073.1:p.His266Arg, XP_006712075.1:p.His265Pro, XP_006712075.1:p.His265Arg, XP_006712074.1:p.His265Pro, XP_006712074.1:p.His265Arg, XP_006712076.1:p.His220Pro, XP_006712076.1:p.His220Arg, XP_006712077.1:p.His181Pro, XP_006712077.1:p.His181Arg

            6.

            rs1473737975 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:27092360 (GRCh38)
              2:27315228 (GRCh37)
              Canonical SPDI:
              NC_000002.12:27092359:G:A
              Gene:
              KHK (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.27092360G>A, NC_000002.11:g.27315228G>A, NG_012199.2:g.10618G>A, NM_006488.3:c.121G>A, NM_006488.2:c.121G>A, NM_000221.3:c.121G>A, NM_000221.2:c.121G>A, XM_005264294.5:c.121G>A, XM_005264294.4:c.121G>A, XM_005264294.3:c.121G>A, XM_005264294.2:c.121G>A, XM_005264294.1:c.121G>A, XM_005264296.5:c.121G>A, XM_005264296.4:c.121G>A, XM_005264296.3:c.121G>A, XM_005264296.2:c.121G>A, XM_005264296.1:c.121G>A, XM_006712008.5:c.121G>A, XM_006712008.4:c.121G>A, XM_006712008.3:c.121G>A, XM_006712008.2:c.121G>A, XM_006712008.1:c.121G>A, XM_006712009.5:c.121G>A, XM_006712009.4:c.121G>A, XM_006712009.3:c.121G>A, XM_006712009.2:c.121G>A, XM_006712009.1:c.121G>A, XM_006712010.5:c.121G>A, XM_006712010.4:c.121G>A, XM_006712010.3:c.121G>A, XM_006712010.2:c.121G>A, XM_006712010.1:c.121G>A, XM_006712012.5:c.121G>A, XM_006712012.4:c.121G>A, XM_006712012.3:c.121G>A, XM_006712012.2:c.121G>A, XM_006712012.1:c.121G>A, XM_006712011.5:c.121G>A, XM_006712011.4:c.121G>A, XM_006712011.3:c.121G>A, XM_006712011.2:c.121G>A, XM_006712011.1:c.121G>A, XM_006712013.5:c.121G>A, XM_006712013.4:c.121G>A, XM_006712013.3:c.121G>A, XM_006712013.2:c.121G>A, XM_006712013.1:c.121G>A, XM_017004060.3:c.121G>A, XM_017004060.2:c.121G>A, XM_017004060.1:c.121G>A, XM_017004061.3:c.121G>A, XM_017004061.2:c.121G>A, XM_017004061.1:c.121G>A, NP_006479.1:p.Gly41Ser, NP_000212.1:p.Gly41Ser, XP_005264351.1:p.Gly41Ser, XP_005264353.1:p.Gly41Ser, XP_006712071.1:p.Gly41Ser, XP_006712072.1:p.Gly41Ser, XP_006712073.1:p.Gly41Ser, XP_006712075.1:p.Gly41Ser, XP_006712074.1:p.Gly41Ser, XP_006712076.1:p.Gly41Ser, XP_016859549.1:p.Gly41Ser, XP_016859550.1:p.Gly41Ser

              7.

              rs1471381970 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:27094864 (GRCh38)
                2:27317732 (GRCh37)
                Canonical SPDI:
                NC_000002.12:27094863:G:A
                Gene:
                KHK (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.27094864G>A, NC_000002.11:g.27317732G>A, NG_012199.2:g.13122G>A, NM_006488.3:c.274G>A, NM_006488.2:c.274G>A, XM_005264294.5:c.412G>A, XM_005264294.4:c.412G>A, XM_005264294.3:c.412G>A, XM_005264294.2:c.412G>A, XM_005264294.1:c.412G>A, XM_006712008.5:c.412G>A, XM_006712008.4:c.412G>A, XM_006712008.3:c.412G>A, XM_006712008.2:c.412G>A, XM_006712008.1:c.412G>A, XM_006712009.5:c.409G>A, XM_006712009.4:c.409G>A, XM_006712009.3:c.409G>A, XM_006712009.2:c.409G>A, XM_006712009.1:c.409G>A, XM_006712011.5:c.274G>A, XM_006712011.4:c.274G>A, XM_006712011.3:c.274G>A, XM_006712011.2:c.274G>A, XM_006712011.1:c.274G>A, XM_017004060.3:c.409G>A, XM_017004060.2:c.409G>A, XM_017004060.1:c.409G>A, NP_006479.1:p.Gly92Arg, XP_005264351.1:p.Gly138Arg, XP_006712071.1:p.Gly138Arg, XP_006712072.1:p.Gly137Arg, XP_006712074.1:p.Gly92Arg, XP_016859549.1:p.Gly137Arg

                8.

                rs1466812995 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AGA>- [Show Flanks]
                  Chromosome:
                  2:27097579 (GRCh38)
                  2:27320447 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:27097575:AGAAGA:AGA
                  Gene:
                  KHK (Varview)
                  Functional Consequence:
                  coding_sequence_variant,inframe_deletion
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AGAAGA=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000002.12:g.27097576AGA[1], NC_000002.11:g.27320444AGA[1], NG_012199.2:g.15834AGA[1], NM_006488.3:c.491AGA[1], NM_006488.2:c.491AGA[1], NM_000221.3:c.491AGA[1], NM_000221.2:c.491AGA[1], XM_005264294.5:c.629AGA[1], XM_005264294.4:c.629AGA[1], XM_005264294.3:c.629AGA[1], XM_005264294.2:c.629AGA[1], XM_005264294.1:c.629AGA[1], XM_005264296.5:c.494AGA[1], XM_005264296.4:c.494AGA[1], XM_005264296.3:c.494AGA[1], XM_005264296.2:c.494AGA[1], XM_005264296.1:c.494AGA[1], XM_005264298.5:c.239AGA[1], XM_005264298.4:c.239AGA[1], XM_005264298.3:c.239AGA[1], XM_005264298.2:c.239AGA[1], XM_005264298.1:c.239AGA[1], XM_006712008.5:c.629AGA[1], XM_006712008.4:c.629AGA[1], XM_006712008.3:c.629AGA[1], XM_006712008.2:c.629AGA[1], XM_006712008.1:c.629AGA[1], XM_006712009.5:c.626AGA[1], XM_006712009.4:c.626AGA[1], XM_006712009.3:c.626AGA[1], XM_006712009.2:c.626AGA[1], XM_006712009.1:c.626AGA[1], XM_006712010.5:c.494AGA[1], XM_006712010.4:c.494AGA[1], XM_006712010.3:c.494AGA[1], XM_006712010.2:c.494AGA[1], XM_006712010.1:c.494AGA[1], XM_006712012.5:c.491AGA[1], XM_006712012.4:c.491AGA[1], XM_006712012.3:c.491AGA[1], XM_006712012.2:c.491AGA[1], XM_006712012.1:c.491AGA[1], XM_006712011.5:c.491AGA[1], XM_006712011.4:c.491AGA[1], XM_006712011.3:c.491AGA[1], XM_006712011.2:c.491AGA[1], XM_006712011.1:c.491AGA[1], XM_006712013.5:c.356AGA[1], XM_006712013.4:c.356AGA[1], XM_006712013.3:c.356AGA[1], XM_006712013.2:c.356AGA[1], XM_006712013.1:c.356AGA[1], XM_006712014.5:c.239AGA[1], XM_006712014.4:c.239AGA[1], XM_006712014.3:c.239AGA[1], XM_006712014.2:c.239AGA[1], XM_006712014.1:c.239AGA[1], XM_017004060.3:c.626AGA[1], XM_017004060.2:c.626AGA[1], XM_017004060.1:c.626AGA[1], XM_017004061.3:c.356AGA[1], XM_017004061.2:c.356AGA[1], XM_017004061.1:c.356AGA[1], NP_006479.1:p.Lys165del, NP_000212.1:p.Lys165del, XP_005264351.1:p.Lys211del, XP_005264353.1:p.Lys166del, XP_005264355.1:p.Lys81del, XP_006712071.1:p.Lys211del, XP_006712072.1:p.Lys210del, XP_006712073.1:p.Lys166del, XP_006712075.1:p.Lys165del, XP_006712074.1:p.Lys165del, XP_006712076.1:p.Lys120del, XP_006712077.1:p.Lys81del, XP_016859549.1:p.Lys210del, XP_016859550.1:p.Lys120del

                  9.

                  rs1465753407 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:27087320 (GRCh38)
                    2:27310188 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:27087319:G:A
                    Gene:
                    KHK (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.27087320G>A, NC_000002.11:g.27310188G>A, NG_012199.2:g.5578G>A, NM_006488.3:c.61G>A, NM_006488.2:c.61G>A, NM_000221.3:c.61G>A, NM_000221.2:c.61G>A, NG_046849.1:g.13754G>A, XM_005264294.5:c.61G>A, XM_005264294.4:c.61G>A, XM_005264294.3:c.61G>A, XM_005264294.2:c.61G>A, XM_005264294.1:c.61G>A, XM_005264296.5:c.61G>A, XM_005264296.4:c.61G>A, XM_005264296.3:c.61G>A, XM_005264296.2:c.61G>A, XM_005264296.1:c.61G>A, XM_005264298.5:c.61G>A, XM_005264298.4:c.61G>A, XM_005264298.3:c.61G>A, XM_005264298.2:c.61G>A, XM_005264298.1:c.61G>A, XM_006712008.5:c.61G>A, XM_006712008.4:c.61G>A, XM_006712008.3:c.61G>A, XM_006712008.2:c.61G>A, XM_006712008.1:c.61G>A, XM_006712009.5:c.61G>A, XM_006712009.4:c.61G>A, XM_006712009.3:c.61G>A, XM_006712009.2:c.61G>A, XM_006712009.1:c.61G>A, XM_006712010.5:c.61G>A, XM_006712010.4:c.61G>A, XM_006712010.3:c.61G>A, XM_006712010.2:c.61G>A, XM_006712010.1:c.61G>A, XM_006712012.5:c.61G>A, XM_006712012.4:c.61G>A, XM_006712012.3:c.61G>A, XM_006712012.2:c.61G>A, XM_006712012.1:c.61G>A, XM_006712011.5:c.61G>A, XM_006712011.4:c.61G>A, XM_006712011.3:c.61G>A, XM_006712011.2:c.61G>A, XM_006712011.1:c.61G>A, XM_006712013.5:c.61G>A, XM_006712013.4:c.61G>A, XM_006712013.3:c.61G>A, XM_006712013.2:c.61G>A, XM_006712013.1:c.61G>A, XM_006712014.5:c.61G>A, XM_006712014.4:c.61G>A, XM_006712014.3:c.61G>A, XM_006712014.2:c.61G>A, XM_006712014.1:c.61G>A, XM_017004060.3:c.61G>A, XM_017004060.2:c.61G>A, XM_017004060.1:c.61G>A, XM_017004061.3:c.61G>A, XM_017004061.2:c.61G>A, XM_017004061.1:c.61G>A, NP_006479.1:p.Asp21Asn, NP_000212.1:p.Asp21Asn, XP_005264351.1:p.Asp21Asn, XP_005264353.1:p.Asp21Asn, XP_005264355.1:p.Asp21Asn, XP_006712071.1:p.Asp21Asn, XP_006712072.1:p.Asp21Asn, XP_006712073.1:p.Asp21Asn, XP_006712075.1:p.Asp21Asn, XP_006712074.1:p.Asp21Asn, XP_006712076.1:p.Asp21Asn, XP_006712077.1:p.Asp21Asn, XP_016859549.1:p.Asp21Asn, XP_016859550.1:p.Asp21Asn

                    10.

                    rs1464530815 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:27097609 (GRCh38)
                      2:27320477 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:27097608:C:T
                      Gene:
                      KHK (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.27097609C>T, NC_000002.11:g.27320477C>T, NG_012199.2:g.15867C>T, NM_006488.3:c.524C>T, NM_006488.2:c.524C>T, NM_000221.3:c.524C>T, NM_000221.2:c.524C>T, XM_005264294.5:c.662C>T, XM_005264294.4:c.662C>T, XM_005264294.3:c.662C>T, XM_005264294.2:c.662C>T, XM_005264294.1:c.662C>T, XM_005264296.5:c.527C>T, XM_005264296.4:c.527C>T, XM_005264296.3:c.527C>T, XM_005264296.2:c.527C>T, XM_005264296.1:c.527C>T, XM_005264298.5:c.272C>T, XM_005264298.4:c.272C>T, XM_005264298.3:c.272C>T, XM_005264298.2:c.272C>T, XM_005264298.1:c.272C>T, XM_006712008.5:c.662C>T, XM_006712008.4:c.662C>T, XM_006712008.3:c.662C>T, XM_006712008.2:c.662C>T, XM_006712008.1:c.662C>T, XM_006712009.5:c.659C>T, XM_006712009.4:c.659C>T, XM_006712009.3:c.659C>T, XM_006712009.2:c.659C>T, XM_006712009.1:c.659C>T, XM_006712010.5:c.527C>T, XM_006712010.4:c.527C>T, XM_006712010.3:c.527C>T, XM_006712010.2:c.527C>T, XM_006712010.1:c.527C>T, XM_006712012.5:c.524C>T, XM_006712012.4:c.524C>T, XM_006712012.3:c.524C>T, XM_006712012.2:c.524C>T, XM_006712012.1:c.524C>T, XM_006712011.5:c.524C>T, XM_006712011.4:c.524C>T, XM_006712011.3:c.524C>T, XM_006712011.2:c.524C>T, XM_006712011.1:c.524C>T, XM_006712013.5:c.389C>T, XM_006712013.4:c.389C>T, XM_006712013.3:c.389C>T, XM_006712013.2:c.389C>T, XM_006712013.1:c.389C>T, XM_006712014.5:c.272C>T, XM_006712014.4:c.272C>T, XM_006712014.3:c.272C>T, XM_006712014.2:c.272C>T, XM_006712014.1:c.272C>T, XM_017004060.3:c.659C>T, XM_017004060.2:c.659C>T, XM_017004060.1:c.659C>T, XM_017004061.3:c.389C>T, XM_017004061.2:c.389C>T, XM_017004061.1:c.389C>T, NP_006479.1:p.Pro175Leu, NP_000212.1:p.Pro175Leu, XP_005264351.1:p.Pro221Leu, XP_005264353.1:p.Pro176Leu, XP_005264355.1:p.Pro91Leu, XP_006712071.1:p.Pro221Leu, XP_006712072.1:p.Pro220Leu, XP_006712073.1:p.Pro176Leu, XP_006712075.1:p.Pro175Leu, XP_006712074.1:p.Pro175Leu, XP_006712076.1:p.Pro130Leu, XP_006712077.1:p.Pro91Leu, XP_016859549.1:p.Pro220Leu, XP_016859550.1:p.Pro130Leu

                      11.

                      rs1464396381 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        A>- [Show Flanks]
                        Chromosome:
                        2:27097736 (GRCh38)
                        2:27320604 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:27097735:AA:A
                        Gene:
                        KHK (Varview)
                        Functional Consequence:
                        coding_sequence_variant,frameshift_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        AA=0./0 (ALFA)
                        -=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000002.12:g.27097737del, NC_000002.11:g.27320605del, NG_012199.2:g.15995del, XM_006712008.5:c.790del, XM_006712008.4:c.790del, XM_006712008.3:c.790del, XM_006712008.2:c.790del, XM_006712008.1:c.790del, XM_006712009.5:c.787del, XM_006712009.4:c.787del, XM_006712009.3:c.787del, XM_006712009.2:c.787del, XM_006712009.1:c.787del, XM_006712010.5:c.655del, XM_006712010.4:c.655del, XM_006712010.3:c.655del, XM_006712010.2:c.655del, XM_006712010.1:c.655del, XM_006712012.5:c.652del, XM_006712012.4:c.652del, XM_006712012.3:c.652del, XM_006712012.2:c.652del, XM_006712012.1:c.652del, XM_006712011.5:c.652del, XM_006712011.4:c.652del, XM_006712011.3:c.652del, XM_006712011.2:c.652del, XM_006712011.1:c.652del, XM_006712013.5:c.517del, XM_006712013.4:c.517del, XM_006712013.3:c.517del, XM_006712013.2:c.517del, XM_006712013.1:c.517del, XM_006712014.5:c.400del, XM_006712014.4:c.400del, XM_006712014.3:c.400del, XM_006712014.2:c.400del, XM_006712014.1:c.400del, XP_006712071.1:p.Ile264fs, XP_006712072.1:p.Ile263fs, XP_006712073.1:p.Ile219fs, XP_006712075.1:p.Ile218fs, XP_006712074.1:p.Ile218fs, XP_006712076.1:p.Ile173fs, XP_006712077.1:p.Ile134fs

                        12.

                        rs1463357817 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:27097573 (GRCh38)
                          2:27320441 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:27097572:A:G
                          Gene:
                          KHK (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000014/2 (GnomAD)
                          G=0.000015/4 (TOPMED)
                          HGVS:
                          NC_000002.12:g.27097573A>G, NC_000002.11:g.27320441A>G, NG_012199.2:g.15831A>G, NM_006488.3:c.488A>G, NM_006488.2:c.488A>G, NM_000221.3:c.488A>G, NM_000221.2:c.488A>G, XM_005264294.5:c.626A>G, XM_005264294.4:c.626A>G, XM_005264294.3:c.626A>G, XM_005264294.2:c.626A>G, XM_005264294.1:c.626A>G, XM_005264296.5:c.491A>G, XM_005264296.4:c.491A>G, XM_005264296.3:c.491A>G, XM_005264296.2:c.491A>G, XM_005264296.1:c.491A>G, XM_005264298.5:c.236A>G, XM_005264298.4:c.236A>G, XM_005264298.3:c.236A>G, XM_005264298.2:c.236A>G, XM_005264298.1:c.236A>G, XM_006712008.5:c.626A>G, XM_006712008.4:c.626A>G, XM_006712008.3:c.626A>G, XM_006712008.2:c.626A>G, XM_006712008.1:c.626A>G, XM_006712009.5:c.623A>G, XM_006712009.4:c.623A>G, XM_006712009.3:c.623A>G, XM_006712009.2:c.623A>G, XM_006712009.1:c.623A>G, XM_006712010.5:c.491A>G, XM_006712010.4:c.491A>G, XM_006712010.3:c.491A>G, XM_006712010.2:c.491A>G, XM_006712010.1:c.491A>G, XM_006712012.5:c.488A>G, XM_006712012.4:c.488A>G, XM_006712012.3:c.488A>G, XM_006712012.2:c.488A>G, XM_006712012.1:c.488A>G, XM_006712011.5:c.488A>G, XM_006712011.4:c.488A>G, XM_006712011.3:c.488A>G, XM_006712011.2:c.488A>G, XM_006712011.1:c.488A>G, XM_006712013.5:c.353A>G, XM_006712013.4:c.353A>G, XM_006712013.3:c.353A>G, XM_006712013.2:c.353A>G, XM_006712013.1:c.353A>G, XM_006712014.5:c.236A>G, XM_006712014.4:c.236A>G, XM_006712014.3:c.236A>G, XM_006712014.2:c.236A>G, XM_006712014.1:c.236A>G, XM_017004060.3:c.623A>G, XM_017004060.2:c.623A>G, XM_017004060.1:c.623A>G, XM_017004061.3:c.353A>G, XM_017004061.2:c.353A>G, XM_017004061.1:c.353A>G, NP_006479.1:p.Glu163Gly, NP_000212.1:p.Glu163Gly, XP_005264351.1:p.Glu209Gly, XP_005264353.1:p.Glu164Gly, XP_005264355.1:p.Glu79Gly, XP_006712071.1:p.Glu209Gly, XP_006712072.1:p.Glu208Gly, XP_006712073.1:p.Glu164Gly, XP_006712075.1:p.Glu163Gly, XP_006712074.1:p.Glu163Gly, XP_006712076.1:p.Glu118Gly, XP_006712077.1:p.Glu79Gly, XP_016859549.1:p.Glu208Gly, XP_016859550.1:p.Glu118Gly

                          13.

                          rs1463133456 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            2:27092409 (GRCh38)
                            2:27315277 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:27092408:G:C
                            Gene:
                            KHK (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,intron_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_000002.12:g.27092409G>C, NC_000002.11:g.27315277G>C, NG_012199.2:g.10667G>C, NM_006488.3:c.170G>C, NM_006488.2:c.170G>C, NM_000221.3:c.170G>C, NM_000221.2:c.170G>C, XM_005264294.5:c.170G>C, XM_005264294.4:c.170G>C, XM_005264294.3:c.170G>C, XM_005264294.2:c.170G>C, XM_005264294.1:c.170G>C, XM_005264296.5:c.170G>C, XM_005264296.4:c.170G>C, XM_005264296.3:c.170G>C, XM_005264296.2:c.170G>C, XM_005264296.1:c.170G>C, XM_006712008.5:c.170G>C, XM_006712008.4:c.170G>C, XM_006712008.3:c.170G>C, XM_006712008.2:c.170G>C, XM_006712008.1:c.170G>C, XM_006712009.5:c.170G>C, XM_006712009.4:c.170G>C, XM_006712009.3:c.170G>C, XM_006712009.2:c.170G>C, XM_006712009.1:c.170G>C, XM_006712010.5:c.170G>C, XM_006712010.4:c.170G>C, XM_006712010.3:c.170G>C, XM_006712010.2:c.170G>C, XM_006712010.1:c.170G>C, XM_006712012.5:c.170G>C, XM_006712012.4:c.170G>C, XM_006712012.3:c.170G>C, XM_006712012.2:c.170G>C, XM_006712012.1:c.170G>C, XM_006712011.5:c.170G>C, XM_006712011.4:c.170G>C, XM_006712011.3:c.170G>C, XM_006712011.2:c.170G>C, XM_006712011.1:c.170G>C, XM_006712013.5:c.170G>C, XM_006712013.4:c.170G>C, XM_006712013.3:c.170G>C, XM_006712013.2:c.170G>C, XM_006712013.1:c.170G>C, XM_017004060.3:c.170G>C, XM_017004060.2:c.170G>C, XM_017004060.1:c.170G>C, XM_017004061.3:c.170G>C, XM_017004061.2:c.170G>C, XM_017004061.1:c.170G>C, NP_006479.1:p.Cys57Ser, NP_000212.1:p.Cys57Ser, XP_005264351.1:p.Cys57Ser, XP_005264353.1:p.Cys57Ser, XP_006712071.1:p.Cys57Ser, XP_006712072.1:p.Cys57Ser, XP_006712073.1:p.Cys57Ser, XP_006712075.1:p.Cys57Ser, XP_006712074.1:p.Cys57Ser, XP_006712076.1:p.Cys57Ser, XP_016859549.1:p.Cys57Ser, XP_016859550.1:p.Cys57Ser

                            14.

                            rs1462914889 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:27097904 (GRCh38)
                              2:27320772 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:27097903:T:C
                              Gene:
                              KHK (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000002.12:g.27097904T>C, NC_000002.11:g.27320772T>C, NG_012199.2:g.16162T>C, XM_006712008.5:c.957T>C, XM_006712008.4:c.957T>C, XM_006712008.3:c.957T>C, XM_006712008.2:c.957T>C, XM_006712008.1:c.957T>C, XM_006712009.5:c.954T>C, XM_006712009.4:c.954T>C, XM_006712009.3:c.954T>C, XM_006712009.2:c.954T>C, XM_006712009.1:c.954T>C, XM_006712010.5:c.822T>C, XM_006712010.4:c.822T>C, XM_006712010.3:c.822T>C, XM_006712010.2:c.822T>C, XM_006712010.1:c.822T>C, XM_006712012.5:c.819T>C, XM_006712012.4:c.819T>C, XM_006712012.3:c.819T>C, XM_006712012.2:c.819T>C, XM_006712012.1:c.819T>C, XM_006712011.5:c.819T>C, XM_006712011.4:c.819T>C, XM_006712011.3:c.819T>C, XM_006712011.2:c.819T>C, XM_006712011.1:c.819T>C, XM_006712013.5:c.684T>C, XM_006712013.4:c.684T>C, XM_006712013.3:c.684T>C, XM_006712013.2:c.684T>C, XM_006712013.1:c.684T>C, XM_006712014.5:c.567T>C, XM_006712014.4:c.567T>C, XM_006712014.3:c.567T>C, XM_006712014.2:c.567T>C, XM_006712014.1:c.567T>C

                              15.

                              rs1461428597 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                2:27097622 (GRCh38)
                                2:27320490 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:27097621:C:A
                                Gene:
                                KHK (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000224/1 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000223/1 (Estonian)
                                HGVS:
                                NC_000002.12:g.27097622C>A, NC_000002.11:g.27320490C>A, NG_012199.2:g.15880C>A, NM_006488.3:c.537C>A, NM_006488.2:c.537C>A, NM_000221.3:c.537C>A, NM_000221.2:c.537C>A, XM_005264294.5:c.675C>A, XM_005264294.4:c.675C>A, XM_005264294.3:c.675C>A, XM_005264294.2:c.675C>A, XM_005264294.1:c.675C>A, XM_005264296.5:c.540C>A, XM_005264296.4:c.540C>A, XM_005264296.3:c.540C>A, XM_005264296.2:c.540C>A, XM_005264296.1:c.540C>A, XM_005264298.5:c.285C>A, XM_005264298.4:c.285C>A, XM_005264298.3:c.285C>A, XM_005264298.2:c.285C>A, XM_005264298.1:c.285C>A, XM_006712008.5:c.675C>A, XM_006712008.4:c.675C>A, XM_006712008.3:c.675C>A, XM_006712008.2:c.675C>A, XM_006712008.1:c.675C>A, XM_006712009.5:c.672C>A, XM_006712009.4:c.672C>A, XM_006712009.3:c.672C>A, XM_006712009.2:c.672C>A, XM_006712009.1:c.672C>A, XM_006712010.5:c.540C>A, XM_006712010.4:c.540C>A, XM_006712010.3:c.540C>A, XM_006712010.2:c.540C>A, XM_006712010.1:c.540C>A, XM_006712012.5:c.537C>A, XM_006712012.4:c.537C>A, XM_006712012.3:c.537C>A, XM_006712012.2:c.537C>A, XM_006712012.1:c.537C>A, XM_006712011.5:c.537C>A, XM_006712011.4:c.537C>A, XM_006712011.3:c.537C>A, XM_006712011.2:c.537C>A, XM_006712011.1:c.537C>A, XM_006712013.5:c.402C>A, XM_006712013.4:c.402C>A, XM_006712013.3:c.402C>A, XM_006712013.2:c.402C>A, XM_006712013.1:c.402C>A, XM_006712014.5:c.285C>A, XM_006712014.4:c.285C>A, XM_006712014.3:c.285C>A, XM_006712014.2:c.285C>A, XM_006712014.1:c.285C>A, XM_017004060.3:c.672C>A, XM_017004060.2:c.672C>A, XM_017004060.1:c.672C>A, XM_017004061.3:c.402C>A, XM_017004061.2:c.402C>A, XM_017004061.1:c.402C>A

                                16.

                                rs1458580014 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  2:27097716 (GRCh38)
                                  2:27320584 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:27097715:C:A
                                  Gene:
                                  KHK (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000447/2 (ALFA)
                                  A=0.000021/3 (GnomAD)
                                  A=0.000446/2 (Estonian)
                                  HGVS:
                                  NC_000002.12:g.27097716C>A, NC_000002.11:g.27320584C>A, NG_012199.2:g.15974C>A, XM_006712008.5:c.769C>A, XM_006712008.4:c.769C>A, XM_006712008.3:c.769C>A, XM_006712008.2:c.769C>A, XM_006712008.1:c.769C>A, XM_006712009.5:c.766C>A, XM_006712009.4:c.766C>A, XM_006712009.3:c.766C>A, XM_006712009.2:c.766C>A, XM_006712009.1:c.766C>A, XM_006712010.5:c.634C>A, XM_006712010.4:c.634C>A, XM_006712010.3:c.634C>A, XM_006712010.2:c.634C>A, XM_006712010.1:c.634C>A, XM_006712012.5:c.631C>A, XM_006712012.4:c.631C>A, XM_006712012.3:c.631C>A, XM_006712012.2:c.631C>A, XM_006712012.1:c.631C>A, XM_006712011.5:c.631C>A, XM_006712011.4:c.631C>A, XM_006712011.3:c.631C>A, XM_006712011.2:c.631C>A, XM_006712011.1:c.631C>A, XM_006712013.5:c.496C>A, XM_006712013.4:c.496C>A, XM_006712013.3:c.496C>A, XM_006712013.2:c.496C>A, XM_006712013.1:c.496C>A, XM_006712014.5:c.379C>A, XM_006712014.4:c.379C>A, XM_006712014.3:c.379C>A, XM_006712014.2:c.379C>A, XM_006712014.1:c.379C>A, XP_006712071.1:p.Pro257Thr, XP_006712072.1:p.Pro256Thr, XP_006712073.1:p.Pro212Thr, XP_006712075.1:p.Pro211Thr, XP_006712074.1:p.Pro211Thr, XP_006712076.1:p.Pro166Thr, XP_006712077.1:p.Pro127Thr

                                  17.

                                  rs1458334686 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:27098018 (GRCh38)
                                    2:27320886 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:27098017:T:C
                                    Gene:
                                    KHK (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,intron_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_000002.12:g.27098018T>C, NC_000002.11:g.27320886T>C, NG_012199.2:g.16276T>C, XM_006712008.5:c.1071T>C, XM_006712008.4:c.1071T>C, XM_006712008.3:c.1071T>C, XM_006712008.2:c.1071T>C, XM_006712008.1:c.1071T>C, XM_006712009.5:c.1068T>C, XM_006712009.4:c.1068T>C, XM_006712009.3:c.1068T>C, XM_006712009.2:c.1068T>C, XM_006712009.1:c.1068T>C, XM_006712010.5:c.936T>C, XM_006712010.4:c.936T>C, XM_006712010.3:c.936T>C, XM_006712010.2:c.936T>C, XM_006712010.1:c.936T>C, XM_006712012.5:c.933T>C, XM_006712012.4:c.933T>C, XM_006712012.3:c.933T>C, XM_006712012.2:c.933T>C, XM_006712012.1:c.933T>C, XM_006712011.5:c.933T>C, XM_006712011.4:c.933T>C, XM_006712011.3:c.933T>C, XM_006712011.2:c.933T>C, XM_006712011.1:c.933T>C, XM_006712013.5:c.798T>C, XM_006712013.4:c.798T>C, XM_006712013.3:c.798T>C, XM_006712013.2:c.798T>C, XM_006712013.1:c.798T>C, XM_006712014.5:c.681T>C, XM_006712014.4:c.681T>C, XM_006712014.3:c.681T>C, XM_006712014.2:c.681T>C, XM_006712014.1:c.681T>C

                                    18.

                                    rs1456954892 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,G [Show Flanks]
                                      Chromosome:
                                      2:27098002 (GRCh38)
                                      2:27320870 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:27098001:T:A,NC_000002.12:27098001:T:G
                                      Gene:
                                      KHK (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      A=0.000156/1 (1000Genomes)
                                      HGVS:
                                      NC_000002.12:g.27098002T>A, NC_000002.12:g.27098002T>G, NC_000002.11:g.27320870T>A, NC_000002.11:g.27320870T>G, NG_012199.2:g.16260T>A, NG_012199.2:g.16260T>G, XM_006712008.5:c.1055T>A, XM_006712008.5:c.1055T>G, XM_006712008.4:c.1055T>A, XM_006712008.4:c.1055T>G, XM_006712008.3:c.1055T>A, XM_006712008.3:c.1055T>G, XM_006712008.2:c.1055T>A, XM_006712008.2:c.1055T>G, XM_006712008.1:c.1055T>A, XM_006712008.1:c.1055T>G, XM_006712009.5:c.1052T>A, XM_006712009.5:c.1052T>G, XM_006712009.4:c.1052T>A, XM_006712009.4:c.1052T>G, XM_006712009.3:c.1052T>A, XM_006712009.3:c.1052T>G, XM_006712009.2:c.1052T>A, XM_006712009.2:c.1052T>G, XM_006712009.1:c.1052T>A, XM_006712009.1:c.1052T>G, XM_006712010.5:c.920T>A, XM_006712010.5:c.920T>G, XM_006712010.4:c.920T>A, XM_006712010.4:c.920T>G, XM_006712010.3:c.920T>A, XM_006712010.3:c.920T>G, XM_006712010.2:c.920T>A, XM_006712010.2:c.920T>G, XM_006712010.1:c.920T>A, XM_006712010.1:c.920T>G, XM_006712012.5:c.917T>A, XM_006712012.5:c.917T>G, XM_006712012.4:c.917T>A, XM_006712012.4:c.917T>G, XM_006712012.3:c.917T>A, XM_006712012.3:c.917T>G, XM_006712012.2:c.917T>A, XM_006712012.2:c.917T>G, XM_006712012.1:c.917T>A, XM_006712012.1:c.917T>G, XM_006712011.5:c.917T>A, XM_006712011.5:c.917T>G, XM_006712011.4:c.917T>A, XM_006712011.4:c.917T>G, XM_006712011.3:c.917T>A, XM_006712011.3:c.917T>G, XM_006712011.2:c.917T>A, XM_006712011.2:c.917T>G, XM_006712011.1:c.917T>A, XM_006712011.1:c.917T>G, XM_006712013.5:c.782T>A, XM_006712013.5:c.782T>G, XM_006712013.4:c.782T>A, XM_006712013.4:c.782T>G, XM_006712013.3:c.782T>A, XM_006712013.3:c.782T>G, XM_006712013.2:c.782T>A, XM_006712013.2:c.782T>G, XM_006712013.1:c.782T>A, XM_006712013.1:c.782T>G, XM_006712014.5:c.665T>A, XM_006712014.5:c.665T>G, XM_006712014.4:c.665T>A, XM_006712014.4:c.665T>G, XM_006712014.3:c.665T>A, XM_006712014.3:c.665T>G, XM_006712014.2:c.665T>A, XM_006712014.2:c.665T>G, XM_006712014.1:c.665T>A, XM_006712014.1:c.665T>G, XP_006712071.1:p.Leu352Gln, XP_006712071.1:p.Leu352Arg, XP_006712072.1:p.Leu351Gln, XP_006712072.1:p.Leu351Arg, XP_006712073.1:p.Leu307Gln, XP_006712073.1:p.Leu307Arg, XP_006712075.1:p.Leu306Gln, XP_006712075.1:p.Leu306Arg, XP_006712074.1:p.Leu306Gln, XP_006712074.1:p.Leu306Arg, XP_006712076.1:p.Leu261Gln, XP_006712076.1:p.Leu261Arg, XP_006712077.1:p.Leu222Gln, XP_006712077.1:p.Leu222Arg

                                      19.

                                      rs1452857250 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:27087279 (GRCh38)
                                        2:27310147 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:27087278:T:C
                                        Gene:
                                        KHK (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000005/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000002.12:g.27087279T>C, NC_000002.11:g.27310147T>C, NG_012199.2:g.5537T>C, NM_006488.3:c.20T>C, NM_006488.2:c.20T>C, NM_000221.3:c.20T>C, NM_000221.2:c.20T>C, NG_046849.1:g.13713T>C, XM_005264294.5:c.20T>C, XM_005264294.4:c.20T>C, XM_005264294.3:c.20T>C, XM_005264294.2:c.20T>C, XM_005264294.1:c.20T>C, XM_005264296.5:c.20T>C, XM_005264296.4:c.20T>C, XM_005264296.3:c.20T>C, XM_005264296.2:c.20T>C, XM_005264296.1:c.20T>C, XM_005264298.5:c.20T>C, XM_005264298.4:c.20T>C, XM_005264298.3:c.20T>C, XM_005264298.2:c.20T>C, XM_005264298.1:c.20T>C, XM_006712008.5:c.20T>C, XM_006712008.4:c.20T>C, XM_006712008.3:c.20T>C, XM_006712008.2:c.20T>C, XM_006712008.1:c.20T>C, XM_006712009.5:c.20T>C, XM_006712009.4:c.20T>C, XM_006712009.3:c.20T>C, XM_006712009.2:c.20T>C, XM_006712009.1:c.20T>C, XM_006712010.5:c.20T>C, XM_006712010.4:c.20T>C, XM_006712010.3:c.20T>C, XM_006712010.2:c.20T>C, XM_006712010.1:c.20T>C, XM_006712012.5:c.20T>C, XM_006712012.4:c.20T>C, XM_006712012.3:c.20T>C, XM_006712012.2:c.20T>C, XM_006712012.1:c.20T>C, XM_006712011.5:c.20T>C, XM_006712011.4:c.20T>C, XM_006712011.3:c.20T>C, XM_006712011.2:c.20T>C, XM_006712011.1:c.20T>C, XM_006712013.5:c.20T>C, XM_006712013.4:c.20T>C, XM_006712013.3:c.20T>C, XM_006712013.2:c.20T>C, XM_006712013.1:c.20T>C, XM_006712014.5:c.20T>C, XM_006712014.4:c.20T>C, XM_006712014.3:c.20T>C, XM_006712014.2:c.20T>C, XM_006712014.1:c.20T>C, XM_017004060.3:c.20T>C, XM_017004060.2:c.20T>C, XM_017004060.1:c.20T>C, XM_017004061.3:c.20T>C, XM_017004061.2:c.20T>C, XM_017004061.1:c.20T>C, NP_006479.1:p.Leu7Pro, NP_000212.1:p.Leu7Pro, XP_005264351.1:p.Leu7Pro, XP_005264353.1:p.Leu7Pro, XP_005264355.1:p.Leu7Pro, XP_006712071.1:p.Leu7Pro, XP_006712072.1:p.Leu7Pro, XP_006712073.1:p.Leu7Pro, XP_006712075.1:p.Leu7Pro, XP_006712074.1:p.Leu7Pro, XP_006712076.1:p.Leu7Pro, XP_006712077.1:p.Leu7Pro, XP_016859549.1:p.Leu7Pro, XP_016859550.1:p.Leu7Pro

                                        20.

                                        rs1443987824 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:27092400 (GRCh38)
                                          2:27315268 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:27092399:G:A
                                          Gene:
                                          KHK (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant
                                          HGVS:
                                          NC_000002.12:g.27092400G>A, NC_000002.11:g.27315268G>A, NG_012199.2:g.10658G>A, NM_006488.3:c.161G>A, NM_006488.2:c.161G>A, NM_000221.3:c.161G>A, NM_000221.2:c.161G>A, XM_005264294.5:c.161G>A, XM_005264294.4:c.161G>A, XM_005264294.3:c.161G>A, XM_005264294.2:c.161G>A, XM_005264294.1:c.161G>A, XM_005264296.5:c.161G>A, XM_005264296.4:c.161G>A, XM_005264296.3:c.161G>A, XM_005264296.2:c.161G>A, XM_005264296.1:c.161G>A, XM_006712008.5:c.161G>A, XM_006712008.4:c.161G>A, XM_006712008.3:c.161G>A, XM_006712008.2:c.161G>A, XM_006712008.1:c.161G>A, XM_006712009.5:c.161G>A, XM_006712009.4:c.161G>A, XM_006712009.3:c.161G>A, XM_006712009.2:c.161G>A, XM_006712009.1:c.161G>A, XM_006712010.5:c.161G>A, XM_006712010.4:c.161G>A, XM_006712010.3:c.161G>A, XM_006712010.2:c.161G>A, XM_006712010.1:c.161G>A, XM_006712012.5:c.161G>A, XM_006712012.4:c.161G>A, XM_006712012.3:c.161G>A, XM_006712012.2:c.161G>A, XM_006712012.1:c.161G>A, XM_006712011.5:c.161G>A, XM_006712011.4:c.161G>A, XM_006712011.3:c.161G>A, XM_006712011.2:c.161G>A, XM_006712011.1:c.161G>A, XM_006712013.5:c.161G>A, XM_006712013.4:c.161G>A, XM_006712013.3:c.161G>A, XM_006712013.2:c.161G>A, XM_006712013.1:c.161G>A, XM_017004060.3:c.161G>A, XM_017004060.2:c.161G>A, XM_017004060.1:c.161G>A, XM_017004061.3:c.161G>A, XM_017004061.2:c.161G>A, XM_017004061.1:c.161G>A, NP_006479.1:p.Gly54Glu, NP_000212.1:p.Gly54Glu, XP_005264351.1:p.Gly54Glu, XP_005264353.1:p.Gly54Glu, XP_006712071.1:p.Gly54Glu, XP_006712072.1:p.Gly54Glu, XP_006712073.1:p.Gly54Glu, XP_006712075.1:p.Gly54Glu, XP_006712074.1:p.Gly54Glu, XP_006712076.1:p.Gly54Glu, XP_016859549.1:p.Gly54Glu, XP_016859550.1:p.Gly54Glu

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