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Items: 1 to 20 of 411

1.

rs1490275819 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    2:27099478 (GRCh38)
    2:27322346 (GRCh37)
    Canonical SPDI:
    NC_000002.12:27099477:A:G
    Gene:
    KHK (Varview), CGREF1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.27099478A>G, NC_000002.11:g.27322346A>G, NG_012199.2:g.17736A>G, NM_006488.3:c.712A>G, NM_006488.2:c.712A>G, NM_000221.3:c.712A>G, NM_000221.2:c.712A>G, XM_005264294.5:c.850A>G, XM_005264294.4:c.850A>G, XM_005264294.3:c.850A>G, XM_005264294.2:c.850A>G, XM_005264294.1:c.850A>G, XM_005264296.5:c.715A>G, XM_005264296.4:c.715A>G, XM_005264296.3:c.715A>G, XM_005264296.2:c.715A>G, XM_005264296.1:c.715A>G, XM_005264298.5:c.460A>G, XM_005264298.4:c.460A>G, XM_005264298.3:c.460A>G, XM_005264298.2:c.460A>G, XM_005264298.1:c.460A>G, XM_017004060.3:c.847A>G, XM_017004060.2:c.847A>G, XM_017004060.1:c.847A>G, XM_017004061.3:c.577A>G, XM_017004061.2:c.577A>G, XM_017004061.1:c.577A>G, NM_001301324.2:c.*383T>C, NM_001301324.1:c.*383T>C, NM_001166240.2:c.*306T>C, NM_001166240.1:c.*306T>C, NM_001166241.1:c.*306T>C, NP_006479.1:p.Lys238Glu, NP_000212.1:p.Lys238Glu, XP_005264351.1:p.Lys284Glu, XP_005264353.1:p.Lys239Glu, XP_005264355.1:p.Lys154Glu, XP_016859549.1:p.Lys283Glu, XP_016859550.1:p.Lys193Glu

    2.

    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

      3.

      rs1485655131 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:27099691 (GRCh38)
        2:27322559 (GRCh37)
        Canonical SPDI:
        NC_000002.12:27099690:T:C
        Gene:
        KHK (Varview), CGREF1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.27099691T>C, NC_000002.11:g.27322559T>C, NG_012199.2:g.17949T>C, NM_006488.3:c.838T>C, NM_006488.2:c.838T>C, NM_000221.3:c.838T>C, NM_000221.2:c.838T>C, XM_005264294.5:c.976T>C, XM_005264294.4:c.976T>C, XM_005264294.3:c.976T>C, XM_005264294.2:c.976T>C, XM_005264294.1:c.976T>C, XM_005264296.5:c.841T>C, XM_005264296.4:c.841T>C, XM_005264296.3:c.841T>C, XM_005264296.2:c.841T>C, XM_005264296.1:c.841T>C, XM_005264298.5:c.586T>C, XM_005264298.4:c.586T>C, XM_005264298.3:c.586T>C, XM_005264298.2:c.586T>C, XM_005264298.1:c.586T>C, XM_017004060.3:c.973T>C, XM_017004060.2:c.973T>C, XM_017004060.1:c.973T>C, XM_017004061.3:c.703T>C, XM_017004061.2:c.703T>C, XM_017004061.1:c.703T>C, NM_001301324.2:c.*170A>G, NM_001301324.1:c.*170A>G, NM_001166240.2:c.*93A>G, NM_001166240.1:c.*93A>G, NM_001166241.1:c.*93A>G, NP_006479.1:p.Phe280Leu, NP_000212.1:p.Phe280Leu, XP_005264351.1:p.Phe326Leu, XP_005264353.1:p.Phe281Leu, XP_005264355.1:p.Phe196Leu, XP_016859549.1:p.Phe325Leu, XP_016859550.1:p.Phe235Leu

        4.

        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

          5.

          rs1482514899 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:27094600 (GRCh38)
            2:27317468 (GRCh37)
            Canonical SPDI:
            NC_000002.12:27094599:A:G
            Gene:
            KHK (Varview)
            Functional Consequence:
            intron_variant,synonymous_variant,coding_sequence_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            G=0.000012/3 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.27094600A>G, NC_000002.11:g.27317468A>G, NG_012199.2:g.12858A>G, NM_000221.3:c.333A>G, NM_000221.2:c.333A>G, XM_005264294.5:c.336A>G, XM_005264294.4:c.336A>G, XM_005264294.3:c.336A>G, XM_005264294.2:c.336A>G, XM_005264294.1:c.336A>G, XM_005264296.5:c.336A>G, XM_005264296.4:c.336A>G, XM_005264296.3:c.336A>G, XM_005264296.2:c.336A>G, XM_005264296.1:c.336A>G, XM_006712008.5:c.336A>G, XM_006712008.4:c.336A>G, XM_006712008.3:c.336A>G, XM_006712008.2:c.336A>G, XM_006712008.1:c.336A>G, XM_006712009.5:c.333A>G, XM_006712009.4:c.333A>G, XM_006712009.3:c.333A>G, XM_006712009.2:c.333A>G, XM_006712009.1:c.333A>G, XM_006712010.5:c.336A>G, XM_006712010.4:c.336A>G, XM_006712010.3:c.336A>G, XM_006712010.2:c.336A>G, XM_006712010.1:c.336A>G, XM_006712012.5:c.333A>G, XM_006712012.4:c.333A>G, XM_006712012.3:c.333A>G, XM_006712012.2:c.333A>G, XM_006712012.1:c.333A>G, XM_017004060.3:c.333A>G, XM_017004060.2:c.333A>G, XM_017004060.1:c.333A>G

            6.

            rs1480339385 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TG>- [Show Flanks]
              Chromosome:
              2:27099435 (GRCh38)
              2:27322303 (GRCh37)
              Canonical SPDI:
              NC_000002.12:27099432:TGTG:TG
              Gene:
              KHK (Varview), CGREF1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              -=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.27099433TG[1], NC_000002.11:g.27322301TG[1], NG_012199.2:g.17691TG[1], NM_006488.3:c.669_670del, NM_006488.2:c.669_670del, NM_000221.3:c.669_670del, NM_000221.2:c.669_670del, XM_005264294.5:c.807_808del, XM_005264294.4:c.807_808del, XM_005264294.3:c.807_808del, XM_005264294.2:c.807_808del, XM_005264294.1:c.807_808del, XM_005264296.5:c.672_673del, XM_005264296.4:c.672_673del, XM_005264296.3:c.672_673del, XM_005264296.2:c.672_673del, XM_005264296.1:c.672_673del, XM_005264298.5:c.417_418del, XM_005264298.4:c.417_418del, XM_005264298.3:c.417_418del, XM_005264298.2:c.417_418del, XM_005264298.1:c.417_418del, XM_017004060.3:c.804_805del, XM_017004060.2:c.804_805del, XM_017004060.1:c.804_805del, XM_017004061.3:c.534_535del, XM_017004061.2:c.534_535del, XM_017004061.1:c.534_535del, NM_001301324.2:c.*425CA[1], NM_001301324.1:c.*425CA[1], NM_001166240.2:c.*348CA[1], NM_001166240.1:c.*348CA[1], NM_001166241.1:c.*348CA[1], NP_006479.1:p.Ala224fs, NP_000212.1:p.Ala224fs, XP_005264351.1:p.Ala270fs, XP_005264353.1:p.Ala225fs, XP_005264355.1:p.Ala140fs, XP_016859549.1:p.Ala269fs, XP_016859550.1:p.Ala179fs

              7.

              rs1474203726 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                2:27099537 (GRCh38)
                2:27322405 (GRCh37)
                Canonical SPDI:
                NC_000002.12:27099536:A:G
                Gene:
                KHK (Varview), CGREF1 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000014/2 (GnomAD)
                G=0.000026/7 (TOPMED)
                HGVS:
                NC_000002.12:g.27099537A>G, NC_000002.11:g.27322405A>G, NG_012199.2:g.17795A>G, NM_006488.3:c.771A>G, NM_006488.2:c.771A>G, NM_000221.3:c.771A>G, NM_000221.2:c.771A>G, XM_005264294.5:c.909A>G, XM_005264294.4:c.909A>G, XM_005264294.3:c.909A>G, XM_005264294.2:c.909A>G, XM_005264294.1:c.909A>G, XM_005264296.5:c.774A>G, XM_005264296.4:c.774A>G, XM_005264296.3:c.774A>G, XM_005264296.2:c.774A>G, XM_005264296.1:c.774A>G, XM_005264298.5:c.519A>G, XM_005264298.4:c.519A>G, XM_005264298.3:c.519A>G, XM_005264298.2:c.519A>G, XM_005264298.1:c.519A>G, XM_017004060.3:c.906A>G, XM_017004060.2:c.906A>G, XM_017004060.1:c.906A>G, XM_017004061.3:c.636A>G, XM_017004061.2:c.636A>G, XM_017004061.1:c.636A>G, NM_001301324.2:c.*324T>C, NM_001301324.1:c.*324T>C, NM_001166240.2:c.*247T>C, NM_001166240.1:c.*247T>C, NM_001166241.1:c.*247T>C

                8.

                rs1473802896 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  2:27094493 (GRCh38)
                  2:27317361 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:27094492:C:A,NC_000002.12:27094492:C:T
                  Gene:
                  KHK (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000031/1 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000002.12:g.27094493C>A, NC_000002.12:g.27094493C>T, NC_000002.11:g.27317361C>A, NC_000002.11:g.27317361C>T, NG_012199.2:g.12751C>A, NG_012199.2:g.12751C>T, NM_000221.3:c.226C>A, NM_000221.3:c.226C>T, NM_000221.2:c.226C>A, NM_000221.2:c.226C>T, XM_005264294.5:c.229C>A, XM_005264294.5:c.229C>T, XM_005264294.4:c.229C>A, XM_005264294.4:c.229C>T, XM_005264294.3:c.229C>A, XM_005264294.3:c.229C>T, XM_005264294.2:c.229C>A, XM_005264294.2:c.229C>T, XM_005264294.1:c.229C>A, XM_005264294.1:c.229C>T, XM_005264296.5:c.229C>A, XM_005264296.5:c.229C>T, XM_005264296.4:c.229C>A, XM_005264296.4:c.229C>T, XM_005264296.3:c.229C>A, XM_005264296.3:c.229C>T, XM_005264296.2:c.229C>A, XM_005264296.2:c.229C>T, XM_005264296.1:c.229C>A, XM_005264296.1:c.229C>T, XM_006712008.5:c.229C>A, XM_006712008.5:c.229C>T, XM_006712008.4:c.229C>A, XM_006712008.4:c.229C>T, XM_006712008.3:c.229C>A, XM_006712008.3:c.229C>T, XM_006712008.2:c.229C>A, XM_006712008.2:c.229C>T, XM_006712008.1:c.229C>A, XM_006712008.1:c.229C>T, XM_006712009.5:c.226C>A, XM_006712009.5:c.226C>T, XM_006712009.4:c.226C>A, XM_006712009.4:c.226C>T, XM_006712009.3:c.226C>A, XM_006712009.3:c.226C>T, XM_006712009.2:c.226C>A, XM_006712009.2:c.226C>T, XM_006712009.1:c.226C>A, XM_006712009.1:c.226C>T, XM_006712010.5:c.229C>A, XM_006712010.5:c.229C>T, XM_006712010.4:c.229C>A, XM_006712010.4:c.229C>T, XM_006712010.3:c.229C>A, XM_006712010.3:c.229C>T, XM_006712010.2:c.229C>A, XM_006712010.2:c.229C>T, XM_006712010.1:c.229C>A, XM_006712010.1:c.229C>T, XM_006712012.5:c.226C>A, XM_006712012.5:c.226C>T, XM_006712012.4:c.226C>A, XM_006712012.4:c.226C>T, XM_006712012.3:c.226C>A, XM_006712012.3:c.226C>T, XM_006712012.2:c.226C>A, XM_006712012.2:c.226C>T, XM_006712012.1:c.226C>A, XM_006712012.1:c.226C>T, XM_017004060.3:c.226C>A, XM_017004060.3:c.226C>T, XM_017004060.2:c.226C>A, XM_017004060.2:c.226C>T, XM_017004060.1:c.226C>A, XM_017004060.1:c.226C>T, NP_000212.1:p.Leu76Ile, NP_000212.1:p.Leu76Phe, XP_005264351.1:p.Leu77Ile, XP_005264351.1:p.Leu77Phe, XP_005264353.1:p.Leu77Ile, XP_005264353.1:p.Leu77Phe, XP_006712071.1:p.Leu77Ile, XP_006712071.1:p.Leu77Phe, XP_006712072.1:p.Leu76Ile, XP_006712072.1:p.Leu76Phe, XP_006712073.1:p.Leu77Ile, XP_006712073.1:p.Leu77Phe, XP_006712075.1:p.Leu76Ile, XP_006712075.1:p.Leu76Phe, XP_016859549.1:p.Leu76Ile, XP_016859549.1:p.Leu76Phe

                  9.

                  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

                    10.

                    rs1472364703 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      2:27094510 (GRCh38)
                      2:27317378 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:27094509:G:T
                      Gene:
                      KHK (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,synonymous_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_000002.12:g.27094510G>T, NC_000002.11:g.27317378G>T, NG_012199.2:g.12768G>T, NM_000221.3:c.243G>T, NM_000221.2:c.243G>T, XM_005264294.5:c.246G>T, XM_005264294.4:c.246G>T, XM_005264294.3:c.246G>T, XM_005264294.2:c.246G>T, XM_005264294.1:c.246G>T, XM_005264296.5:c.246G>T, XM_005264296.4:c.246G>T, XM_005264296.3:c.246G>T, XM_005264296.2:c.246G>T, XM_005264296.1:c.246G>T, XM_006712008.5:c.246G>T, XM_006712008.4:c.246G>T, XM_006712008.3:c.246G>T, XM_006712008.2:c.246G>T, XM_006712008.1:c.246G>T, XM_006712009.5:c.243G>T, XM_006712009.4:c.243G>T, XM_006712009.3:c.243G>T, XM_006712009.2:c.243G>T, XM_006712009.1:c.243G>T, XM_006712010.5:c.246G>T, XM_006712010.4:c.246G>T, XM_006712010.3:c.246G>T, XM_006712010.2:c.246G>T, XM_006712010.1:c.246G>T, XM_006712012.5:c.243G>T, XM_006712012.4:c.243G>T, XM_006712012.3:c.243G>T, XM_006712012.2:c.243G>T, XM_006712012.1:c.243G>T, XM_017004060.3:c.243G>T, XM_017004060.2:c.243G>T, XM_017004060.1:c.243G>T

                      11.

                      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

                        12.

                        rs1471216786 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          2:27099498 (GRCh38)
                          2:27322366 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:27099497:T:C
                          Gene:
                          KHK (Varview), CGREF1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_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.27099498T>C, NC_000002.11:g.27322366T>C, NG_012199.2:g.17756T>C, NM_006488.3:c.732T>C, NM_006488.2:c.732T>C, NM_000221.3:c.732T>C, NM_000221.2:c.732T>C, XM_005264294.5:c.870T>C, XM_005264294.4:c.870T>C, XM_005264294.3:c.870T>C, XM_005264294.2:c.870T>C, XM_005264294.1:c.870T>C, XM_005264296.5:c.735T>C, XM_005264296.4:c.735T>C, XM_005264296.3:c.735T>C, XM_005264296.2:c.735T>C, XM_005264296.1:c.735T>C, XM_005264298.5:c.480T>C, XM_005264298.4:c.480T>C, XM_005264298.3:c.480T>C, XM_005264298.2:c.480T>C, XM_005264298.1:c.480T>C, XM_017004060.3:c.867T>C, XM_017004060.2:c.867T>C, XM_017004060.1:c.867T>C, XM_017004061.3:c.597T>C, XM_017004061.2:c.597T>C, XM_017004061.1:c.597T>C, NM_001301324.2:c.*363A>G, NM_001301324.1:c.*363A>G, NM_001166240.2:c.*286A>G, NM_001166240.1:c.*286A>G, NM_001166241.1:c.*286A>G

                          13.

                          rs1469729597 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            2:27094607 (GRCh38)
                            2:27317475 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:27094606:G:T
                            Gene:
                            KHK (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000002.12:g.27094607G>T, NC_000002.11:g.27317475G>T, NG_012199.2:g.12865G>T, NM_000221.3:c.340G>T, NM_000221.2:c.340G>T, XM_005264294.5:c.343G>T, XM_005264294.4:c.343G>T, XM_005264294.3:c.343G>T, XM_005264294.2:c.343G>T, XM_005264294.1:c.343G>T, XM_005264296.5:c.343G>T, XM_005264296.4:c.343G>T, XM_005264296.3:c.343G>T, XM_005264296.2:c.343G>T, XM_005264296.1:c.343G>T, XM_006712008.5:c.343G>T, XM_006712008.4:c.343G>T, XM_006712008.3:c.343G>T, XM_006712008.2:c.343G>T, XM_006712008.1:c.343G>T, XM_006712009.5:c.340G>T, XM_006712009.4:c.340G>T, XM_006712009.3:c.340G>T, XM_006712009.2:c.340G>T, XM_006712009.1:c.340G>T, XM_006712010.5:c.343G>T, XM_006712010.4:c.343G>T, XM_006712010.3:c.343G>T, XM_006712010.2:c.343G>T, XM_006712010.1:c.343G>T, XM_006712012.5:c.340G>T, XM_006712012.4:c.340G>T, XM_006712012.3:c.340G>T, XM_006712012.2:c.340G>T, XM_006712012.1:c.340G>T, XM_017004060.3:c.340G>T, XM_017004060.2:c.340G>T, XM_017004060.1:c.340G>T, NP_000212.1:p.Asp114Tyr, XP_005264351.1:p.Asp115Tyr, XP_005264353.1:p.Asp115Tyr, XP_006712071.1:p.Asp115Tyr, XP_006712072.1:p.Asp114Tyr, XP_006712073.1:p.Asp115Tyr, XP_006712075.1:p.Asp114Tyr, XP_016859549.1:p.Asp114Tyr

                            14.

                            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

                              15.

                              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

                                16.

                                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

                                  17.

                                  rs1464106813 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:27099280 (GRCh38)
                                    2:27322148 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:27099279:A:G
                                    Gene:
                                    KHK (Varview), CGREF1 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.27099280A>G, NC_000002.11:g.27322148A>G, NG_012199.2:g.17538A>G, NM_006488.3:c.649A>G, NM_006488.2:c.649A>G, NM_000221.3:c.649A>G, NM_000221.2:c.649A>G, XM_005264294.5:c.787A>G, XM_005264294.4:c.787A>G, XM_005264294.3:c.787A>G, XM_005264294.2:c.787A>G, XM_005264294.1:c.787A>G, XM_005264296.5:c.652A>G, XM_005264296.4:c.652A>G, XM_005264296.3:c.652A>G, XM_005264296.2:c.652A>G, XM_005264296.1:c.652A>G, XM_005264298.5:c.397A>G, XM_005264298.4:c.397A>G, XM_005264298.3:c.397A>G, XM_005264298.2:c.397A>G, XM_005264298.1:c.397A>G, XM_017004060.3:c.784A>G, XM_017004060.2:c.784A>G, XM_017004060.1:c.784A>G, XM_017004061.3:c.514A>G, XM_017004061.2:c.514A>G, XM_017004061.1:c.514A>G, NP_006479.1:p.Lys217Glu, NP_000212.1:p.Lys217Glu, XP_005264351.1:p.Lys263Glu, XP_005264353.1:p.Lys218Glu, XP_005264355.1:p.Lys133Glu, XP_016859549.1:p.Lys262Glu, XP_016859550.1:p.Lys172Glu

                                    18.

                                    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

                                      19.

                                      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

                                        20.

                                        rs1462401988 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:27094572 (GRCh38)
                                          2:27317440 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:27094571:A: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=0.000007/1 (GnomAD)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000002.12:g.27094572A>G, NC_000002.11:g.27317440A>G, NG_012199.2:g.12830A>G, NM_000221.3:c.305A>G, NM_000221.2:c.305A>G, XM_005264294.5:c.308A>G, XM_005264294.4:c.308A>G, XM_005264294.3:c.308A>G, XM_005264294.2:c.308A>G, XM_005264294.1:c.308A>G, XM_005264296.5:c.308A>G, XM_005264296.4:c.308A>G, XM_005264296.3:c.308A>G, XM_005264296.2:c.308A>G, XM_005264296.1:c.308A>G, XM_006712008.5:c.308A>G, XM_006712008.4:c.308A>G, XM_006712008.3:c.308A>G, XM_006712008.2:c.308A>G, XM_006712008.1:c.308A>G, XM_006712009.5:c.305A>G, XM_006712009.4:c.305A>G, XM_006712009.3:c.305A>G, XM_006712009.2:c.305A>G, XM_006712009.1:c.305A>G, XM_006712010.5:c.308A>G, XM_006712010.4:c.308A>G, XM_006712010.3:c.308A>G, XM_006712010.2:c.308A>G, XM_006712010.1:c.308A>G, XM_006712012.5:c.305A>G, XM_006712012.4:c.305A>G, XM_006712012.3:c.305A>G, XM_006712012.2:c.305A>G, XM_006712012.1:c.305A>G, XM_017004060.3:c.305A>G, XM_017004060.2:c.305A>G, XM_017004060.1:c.305A>G, NP_000212.1:p.Asn102Ser, XP_005264351.1:p.Asn103Ser, XP_005264353.1:p.Asn103Ser, XP_006712071.1:p.Asn103Ser, XP_006712072.1:p.Asn102Ser, XP_006712073.1:p.Asn103Ser, XP_006712075.1:p.Asn102Ser, XP_016859549.1:p.Asn102Ser

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