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Items: 1 to 20 of 429

1.

rs1489819318 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:48538571 (GRCh38)
    3:48576004 (GRCh37)
    Canonical SPDI:
    NC_000003.12:48538570:C:T
    Gene:
    PFKFB4 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    NC_000003.12:g.48538571C>T, NC_000003.11:g.48576004C>T, NM_004567.4:c.559G>A, NM_004567.3:c.559G>A, NM_004567.2:c.559G>A, XM_011533829.3:c.565G>A, XM_011533829.2:c.565G>A, XM_011533829.1:c.565G>A, XM_017006614.2:c.646G>A, XM_017006614.1:c.646G>A, NM_001317134.2:c.646G>A, NM_001317134.1:c.646G>A, NM_001317138.2:c.-15G>A, NM_001317138.1:c.-15G>A, XM_017006617.2:c.526G>A, XM_017006617.1:c.526G>A, XM_017006615.2:c.646G>A, XM_017006615.1:c.646G>A, XM_024453595.2:c.457G>A, XM_024453595.1:c.457G>A, XM_017006616.2:c.523G>A, XM_017006616.1:c.523G>A, NM_001317135.2:c.559G>A, NM_001317135.1:c.559G>A, NM_001317136.2:c.526G>A, NM_001317136.1:c.526G>A, NM_001317137.2:c.559G>A, NM_001317137.1:c.559G>A, XM_047448300.1:c.559G>A, XM_047448301.1:c.523G>A, XM_047448302.1:c.457G>A, XM_047448303.1:c.457G>A, XM_047448304.1:c.526G>A, NP_004558.1:p.Ala187Thr, XP_011532131.1:p.Ala189Thr, XP_016862103.1:p.Ala216Thr, NP_001304063.1:p.Ala216Thr, XP_016862106.1:p.Ala176Thr, XP_016862104.1:p.Ala216Thr, XP_024309363.1:p.Ala153Thr, XP_016862105.1:p.Ala175Thr, NP_001304064.1:p.Ala187Thr, NP_001304065.1:p.Ala176Thr, NP_001304066.1:p.Ala187Thr, XP_047304256.1:p.Ala187Thr, XP_047304257.1:p.Ala175Thr, XP_047304258.1:p.Ala153Thr, XP_047304259.1:p.Ala153Thr, XP_047304260.1:p.Ala176Thr

    2.

    rs1487139216 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      3:48523552 (GRCh38)
      3:48560985 (GRCh37)
      Canonical SPDI:
      NC_000003.12:48523551:T:A
      Gene:
      PFKFB4 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000003.12:g.48523552T>A, NC_000003.11:g.48560985T>A, NM_004567.4:c.1270A>T, NM_004567.3:c.1270A>T, NM_004567.2:c.1270A>T, XM_011533829.3:c.1276A>T, XM_011533829.2:c.1276A>T, XM_011533829.1:c.1276A>T, XM_017006614.2:c.1357A>T, XM_017006614.1:c.1357A>T, NM_001317134.2:c.1357A>T, NM_001317134.1:c.1357A>T, NM_001317138.2:c.697A>T, NM_001317138.1:c.697A>T, XM_017006617.2:c.1237A>T, XM_017006617.1:c.1237A>T, XM_017006615.2:c.1252A>T, XM_017006615.1:c.1252A>T, XM_024453595.2:c.1168A>T, XM_024453595.1:c.1168A>T, XM_017006616.2:c.1234A>T, XM_017006616.1:c.1234A>T, NM_001317135.2:c.1249A>T, NM_001317135.1:c.1249A>T, NM_001317136.2:c.1237A>T, NM_001317136.1:c.1237A>T, NM_001317137.2:c.1165A>T, NM_001317137.1:c.1165A>T, XM_047448300.1:c.1270A>T, XM_047448301.1:c.1234A>T, XM_047448302.1:c.1168A>T, XM_047448303.1:c.1168A>T, XM_047448304.1:c.1132A>T, NP_004558.1:p.Thr424Ser, XP_011532131.1:p.Thr426Ser, XP_016862103.1:p.Thr453Ser, NP_001304063.1:p.Thr453Ser, NP_001304067.1:p.Thr233Ser, XP_016862106.1:p.Thr413Ser, XP_016862104.1:p.Thr418Ser, XP_024309363.1:p.Thr390Ser, XP_016862105.1:p.Thr412Ser, NP_001304064.1:p.Thr417Ser, NP_001304065.1:p.Thr413Ser, NP_001304066.1:p.Thr389Ser, XP_047304256.1:p.Thr424Ser, XP_047304257.1:p.Thr412Ser, XP_047304258.1:p.Thr390Ser, XP_047304259.1:p.Thr390Ser, XP_047304260.1:p.Thr378Ser

      3.

      rs1485885538 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        3:48535625 (GRCh38)
        3:48573058 (GRCh37)
        Canonical SPDI:
        NC_000003.12:48535624:G:A
        Gene:
        PFKFB4 (Varview)
        Functional Consequence:
        coding_sequence_variant,stop_gained
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000111/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.48535625G>A, NC_000003.11:g.48573058G>A, NM_004567.4:c.874C>T, NM_004567.3:c.874C>T, NM_004567.2:c.874C>T, XM_011533829.3:c.880C>T, XM_011533829.2:c.880C>T, XM_011533829.1:c.880C>T, XM_017006614.2:c.961C>T, XM_017006614.1:c.961C>T, NM_001317134.2:c.961C>T, NM_001317134.1:c.961C>T, NM_001317138.2:c.301C>T, NM_001317138.1:c.301C>T, XM_017006617.2:c.841C>T, XM_017006617.1:c.841C>T, XM_017006615.2:c.961C>T, XM_017006615.1:c.961C>T, XM_024453595.2:c.772C>T, XM_024453595.1:c.772C>T, XM_017006616.2:c.838C>T, XM_017006616.1:c.838C>T, NM_001317135.2:c.874C>T, NM_001317135.1:c.874C>T, NM_001317136.2:c.841C>T, NM_001317136.1:c.841C>T, NM_001317137.2:c.874C>T, NM_001317137.1:c.874C>T, XM_047448300.1:c.874C>T, XM_047448301.1:c.838C>T, XM_047448302.1:c.772C>T, XM_047448303.1:c.772C>T, XM_047448304.1:c.841C>T, NP_004558.1:p.Gln292Ter, XP_011532131.1:p.Gln294Ter, XP_016862103.1:p.Gln321Ter, NP_001304063.1:p.Gln321Ter, NP_001304067.1:p.Gln101Ter, XP_016862106.1:p.Gln281Ter, XP_016862104.1:p.Gln321Ter, XP_024309363.1:p.Gln258Ter, XP_016862105.1:p.Gln280Ter, NP_001304064.1:p.Gln292Ter, NP_001304065.1:p.Gln281Ter, NP_001304066.1:p.Gln292Ter, XP_047304256.1:p.Gln292Ter, XP_047304257.1:p.Gln280Ter, XP_047304258.1:p.Gln258Ter, XP_047304259.1:p.Gln258Ter, XP_047304260.1:p.Gln281Ter

        4.

        rs1485663551 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          3:48522013 (GRCh38)
          3:48559446 (GRCh37)
          Canonical SPDI:
          NC_000003.12:48522012:A:C,NC_000003.12:48522012:A:G
          Gene:
          PFKFB4 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.48522013A>C, NC_000003.12:g.48522013A>G, NC_000003.11:g.48559446A>C, NC_000003.11:g.48559446A>G, NM_004567.4:c.1323T>G, NM_004567.4:c.1323T>C, NM_004567.3:c.1323T>G, NM_004567.3:c.1323T>C, NM_004567.2:c.1323T>G, NM_004567.2:c.1323T>C, XM_011533829.3:c.1329T>G, XM_011533829.3:c.1329T>C, XM_011533829.2:c.1329T>G, XM_011533829.2:c.1329T>C, XM_011533829.1:c.1329T>G, XM_011533829.1:c.1329T>C, XM_017006614.2:c.1410T>G, XM_017006614.2:c.1410T>C, XM_017006614.1:c.1410T>G, XM_017006614.1:c.1410T>C, NM_001317134.2:c.1410T>G, NM_001317134.2:c.1410T>C, NM_001317134.1:c.1410T>G, NM_001317134.1:c.1410T>C, NM_001317138.2:c.750T>G, NM_001317138.2:c.750T>C, NM_001317138.1:c.750T>G, NM_001317138.1:c.750T>C, XM_017006617.2:c.1290T>G, XM_017006617.2:c.1290T>C, XM_017006617.1:c.1290T>G, XM_017006617.1:c.1290T>C, XM_017006615.2:c.1305T>G, XM_017006615.2:c.1305T>C, XM_017006615.1:c.1305T>G, XM_017006615.1:c.1305T>C, XM_024453595.2:c.1221T>G, XM_024453595.2:c.1221T>C, XM_024453595.1:c.1221T>G, XM_024453595.1:c.1221T>C, XM_017006616.2:c.1287T>G, XM_017006616.2:c.1287T>C, XM_017006616.1:c.1287T>G, XM_017006616.1:c.1287T>C, NM_001317135.2:c.1302T>G, NM_001317135.2:c.1302T>C, NM_001317135.1:c.1302T>G, NM_001317135.1:c.1302T>C, NM_001317136.2:c.1290T>G, NM_001317136.2:c.1290T>C, NM_001317136.1:c.1290T>G, NM_001317136.1:c.1290T>C, NM_001317137.2:c.1218T>G, NM_001317137.2:c.1218T>C, NM_001317137.1:c.1218T>G, NM_001317137.1:c.1218T>C, XM_047448300.1:c.1323T>G, XM_047448300.1:c.1323T>C, XM_047448301.1:c.1287T>G, XM_047448301.1:c.1287T>C, XM_047448302.1:c.1221T>G, XM_047448302.1:c.1221T>C, XM_047448303.1:c.1221T>G, XM_047448303.1:c.1221T>C, XM_047448304.1:c.1185T>G, XM_047448304.1:c.1185T>C

          5.

          rs1483448377 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            3:48550196 (GRCh38)
            3:48587629 (GRCh37)
            Canonical SPDI:
            NC_000003.12:48550195:C:A
            Gene:
            PFKFB4 (Varview), MIR6823 (Varview)
            Functional Consequence:
            coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.48550196C>A, NC_000003.11:g.48587629C>A, NM_004567.4:c.136G>T, NM_004567.3:c.136G>T, NM_004567.2:c.136G>T, XM_011533829.3:c.142G>T, XM_011533829.2:c.142G>T, XM_011533829.1:c.142G>T, XM_017006614.2:c.223G>T, XM_017006614.1:c.223G>T, NM_001317134.2:c.223G>T, NM_001317134.1:c.223G>T, NM_001317138.2:c.-566G>T, NM_001317138.1:c.-566G>T, XM_017006617.2:c.103G>T, XM_017006617.1:c.103G>T, XM_017006615.2:c.223G>T, XM_017006615.1:c.223G>T, XM_024453595.2:c.34G>T, XM_024453595.1:c.34G>T, XM_017006616.2:c.100G>T, XM_017006616.1:c.100G>T, NM_001317135.2:c.136G>T, NM_001317135.1:c.136G>T, NM_001317136.2:c.103G>T, NM_001317136.1:c.103G>T, NM_001317137.2:c.136G>T, NM_001317137.1:c.136G>T, XM_047448300.1:c.136G>T, XM_047448301.1:c.100G>T, XM_047448302.1:c.34G>T, XM_047448303.1:c.34G>T, XM_047448304.1:c.103G>T, NP_004558.1:p.Gly46Cys, XP_011532131.1:p.Gly48Cys, XP_016862103.1:p.Gly75Cys, NP_001304063.1:p.Gly75Cys, XP_016862106.1:p.Gly35Cys, XP_016862104.1:p.Gly75Cys, XP_024309363.1:p.Gly12Cys, XP_016862105.1:p.Gly34Cys, NP_001304064.1:p.Gly46Cys, NP_001304065.1:p.Gly35Cys, NP_001304066.1:p.Gly46Cys, XP_047304256.1:p.Gly46Cys, XP_047304257.1:p.Gly34Cys, XP_047304258.1:p.Gly12Cys, XP_047304259.1:p.Gly12Cys, XP_047304260.1:p.Gly35Cys

            6.

            rs1482623883 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              3:48538615 (GRCh38)
              3:48576048 (GRCh37)
              Canonical SPDI:
              NC_000003.12:48538614:A:C
              Gene:
              PFKFB4 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.000047/1 (ALFA)
              C=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.48538615A>C, NC_000003.11:g.48576048A>C, NM_004567.4:c.515T>G, NM_004567.3:c.515T>G, NM_004567.2:c.515T>G, XM_011533829.3:c.521T>G, XM_011533829.2:c.521T>G, XM_011533829.1:c.521T>G, XM_017006614.2:c.602T>G, XM_017006614.1:c.602T>G, NM_001317134.2:c.602T>G, NM_001317134.1:c.602T>G, NM_001317138.2:c.-59T>G, NM_001317138.1:c.-59T>G, XM_017006617.2:c.482T>G, XM_017006617.1:c.482T>G, XM_017006615.2:c.602T>G, XM_017006615.1:c.602T>G, XM_024453595.2:c.413T>G, XM_024453595.1:c.413T>G, XM_017006616.2:c.479T>G, XM_017006616.1:c.479T>G, NM_001317135.2:c.515T>G, NM_001317135.1:c.515T>G, NM_001317136.2:c.482T>G, NM_001317136.1:c.482T>G, NM_001317137.2:c.515T>G, NM_001317137.1:c.515T>G, XM_047448300.1:c.515T>G, XM_047448301.1:c.479T>G, XM_047448302.1:c.413T>G, XM_047448303.1:c.413T>G, XM_047448304.1:c.482T>G, NP_004558.1:p.Val172Gly, XP_011532131.1:p.Val174Gly, XP_016862103.1:p.Val201Gly, NP_001304063.1:p.Val201Gly, XP_016862106.1:p.Val161Gly, XP_016862104.1:p.Val201Gly, XP_024309363.1:p.Val138Gly, XP_016862105.1:p.Val160Gly, NP_001304064.1:p.Val172Gly, NP_001304065.1:p.Val161Gly, NP_001304066.1:p.Val172Gly, XP_047304256.1:p.Val172Gly, XP_047304257.1:p.Val160Gly, XP_047304258.1:p.Val138Gly, XP_047304259.1:p.Val138Gly, XP_047304260.1:p.Val161Gly

              7.

              rs1479347851 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                3:48549886 (GRCh38)
                3:48587319 (GRCh37)
                Canonical SPDI:
                NC_000003.12:48549885:C:A
                Gene:
                PFKFB4 (Varview), MIR6823 (Varview)
                Functional Consequence:
                coding_sequence_variant,downstream_transcript_variant,5_prime_UTR_variant,500B_downstream_variant,stop_gained
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.48549886C>A, NC_000003.11:g.48587319C>A, NM_004567.4:c.289G>T, NM_004567.3:c.289G>T, NM_004567.2:c.289G>T, XM_011533829.3:c.295G>T, XM_011533829.2:c.295G>T, XM_011533829.1:c.295G>T, XM_017006614.2:c.376G>T, XM_017006614.1:c.376G>T, NM_001317134.2:c.376G>T, NM_001317134.1:c.376G>T, NM_001317138.2:c.-413G>T, NM_001317138.1:c.-413G>T, XM_017006617.2:c.256G>T, XM_017006617.1:c.256G>T, XM_017006615.2:c.376G>T, XM_017006615.1:c.376G>T, XM_024453595.2:c.187G>T, XM_024453595.1:c.187G>T, XM_017006616.2:c.253G>T, XM_017006616.1:c.253G>T, NM_001317135.2:c.289G>T, NM_001317135.1:c.289G>T, NM_001317136.2:c.256G>T, NM_001317136.1:c.256G>T, NM_001317137.2:c.289G>T, NM_001317137.1:c.289G>T, XM_047448300.1:c.289G>T, XM_047448301.1:c.253G>T, XM_047448302.1:c.187G>T, XM_047448303.1:c.187G>T, XM_047448304.1:c.256G>T, NP_004558.1:p.Glu97Ter, XP_011532131.1:p.Glu99Ter, XP_016862103.1:p.Glu126Ter, NP_001304063.1:p.Glu126Ter, XP_016862106.1:p.Glu86Ter, XP_016862104.1:p.Glu126Ter, XP_024309363.1:p.Glu63Ter, XP_016862105.1:p.Glu85Ter, NP_001304064.1:p.Glu97Ter, NP_001304065.1:p.Glu86Ter, NP_001304066.1:p.Glu97Ter, XP_047304256.1:p.Glu97Ter, XP_047304257.1:p.Glu85Ter, XP_047304258.1:p.Glu63Ter, XP_047304259.1:p.Glu63Ter, XP_047304260.1:p.Glu86Ter

                8.

                rs1478930701 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  3:48539762 (GRCh38)
                  3:48577195 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:48539761:C:T
                  Gene:
                  PFKFB4 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,5_prime_UTR_variant
                  HGVS:
                  NC_000003.12:g.48539762C>T, NC_000003.11:g.48577195C>T, NM_004567.4:c.388G>A, NM_004567.3:c.388G>A, NM_004567.2:c.388G>A, XM_011533829.3:c.394G>A, XM_011533829.2:c.394G>A, XM_011533829.1:c.394G>A, XM_017006614.2:c.475G>A, XM_017006614.1:c.475G>A, NM_001317134.2:c.475G>A, NM_001317134.1:c.475G>A, NM_001317138.2:c.-186G>A, NM_001317138.1:c.-186G>A, XM_017006617.2:c.355G>A, XM_017006617.1:c.355G>A, XM_017006615.2:c.475G>A, XM_017006615.1:c.475G>A, XM_024453595.2:c.286G>A, XM_024453595.1:c.286G>A, XM_017006616.2:c.352G>A, XM_017006616.1:c.352G>A, NM_001317135.2:c.388G>A, NM_001317135.1:c.388G>A, NM_001317136.2:c.355G>A, NM_001317136.1:c.355G>A, NM_001317137.2:c.388G>A, NM_001317137.1:c.388G>A, XM_047448300.1:c.388G>A, XM_047448301.1:c.352G>A, XM_047448302.1:c.286G>A, XM_047448303.1:c.286G>A, XM_047448304.1:c.355G>A, NP_004558.1:p.Ala130Thr, XP_011532131.1:p.Ala132Thr, XP_016862103.1:p.Ala159Thr, NP_001304063.1:p.Ala159Thr, XP_016862106.1:p.Ala119Thr, XP_016862104.1:p.Ala159Thr, XP_024309363.1:p.Ala96Thr, XP_016862105.1:p.Ala118Thr, NP_001304064.1:p.Ala130Thr, NP_001304065.1:p.Ala119Thr, NP_001304066.1:p.Ala130Thr, XP_047304256.1:p.Ala130Thr, XP_047304257.1:p.Ala118Thr, XP_047304258.1:p.Ala96Thr, XP_047304259.1:p.Ala96Thr, XP_047304260.1:p.Ala119Thr

                  9.

                  rs1478838689 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C,G [Show Flanks]
                    Chromosome:
                    3:48523791 (GRCh38)
                    3:48561224 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:48523790:T:C,NC_000003.12:48523790:T:G
                    Gene:
                    PFKFB4 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    G=0.00007/1 (TOMMO)
                    HGVS:
                    NC_000003.12:g.48523791T>C, NC_000003.12:g.48523791T>G, NC_000003.11:g.48561224T>C, NC_000003.11:g.48561224T>G, NM_004567.4:c.1132A>G, NM_004567.4:c.1132A>C, NM_004567.3:c.1132A>G, NM_004567.3:c.1132A>C, NM_004567.2:c.1132A>G, NM_004567.2:c.1132A>C, XM_011533829.3:c.1138A>G, XM_011533829.3:c.1138A>C, XM_011533829.2:c.1138A>G, XM_011533829.2:c.1138A>C, XM_011533829.1:c.1138A>G, XM_011533829.1:c.1138A>C, XM_017006614.2:c.1219A>G, XM_017006614.2:c.1219A>C, XM_017006614.1:c.1219A>G, XM_017006614.1:c.1219A>C, NM_001317134.2:c.1219A>G, NM_001317134.2:c.1219A>C, NM_001317134.1:c.1219A>G, NM_001317134.1:c.1219A>C, NM_001317138.2:c.559A>G, NM_001317138.2:c.559A>C, NM_001317138.1:c.559A>G, NM_001317138.1:c.559A>C, XM_017006617.2:c.1099A>G, XM_017006617.2:c.1099A>C, XM_017006617.1:c.1099A>G, XM_017006617.1:c.1099A>C, XM_017006615.2:c.1114A>G, XM_017006615.2:c.1114A>C, XM_017006615.1:c.1114A>G, XM_017006615.1:c.1114A>C, XM_024453595.2:c.1030A>G, XM_024453595.2:c.1030A>C, XM_024453595.1:c.1030A>G, XM_024453595.1:c.1030A>C, XM_017006616.2:c.1096A>G, XM_017006616.2:c.1096A>C, XM_017006616.1:c.1096A>G, XM_017006616.1:c.1096A>C, NM_001317135.2:c.1111A>G, NM_001317135.2:c.1111A>C, NM_001317135.1:c.1111A>G, NM_001317135.1:c.1111A>C, NM_001317136.2:c.1099A>G, NM_001317136.2:c.1099A>C, NM_001317136.1:c.1099A>G, NM_001317136.1:c.1099A>C, NM_001317137.2:c.1027A>G, NM_001317137.2:c.1027A>C, NM_001317137.1:c.1027A>G, NM_001317137.1:c.1027A>C, XM_047448300.1:c.1132A>G, XM_047448300.1:c.1132A>C, XM_047448301.1:c.1096A>G, XM_047448301.1:c.1096A>C, XM_047448302.1:c.1030A>G, XM_047448302.1:c.1030A>C, XM_047448303.1:c.1030A>G, XM_047448303.1:c.1030A>C, XM_047448304.1:c.994A>G, XM_047448304.1:c.994A>C, NP_004558.1:p.Met378Val, NP_004558.1:p.Met378Leu, XP_011532131.1:p.Met380Val, XP_011532131.1:p.Met380Leu, XP_016862103.1:p.Met407Val, XP_016862103.1:p.Met407Leu, NP_001304063.1:p.Met407Val, NP_001304063.1:p.Met407Leu, NP_001304067.1:p.Met187Val, NP_001304067.1:p.Met187Leu, XP_016862106.1:p.Met367Val, XP_016862106.1:p.Met367Leu, XP_016862104.1:p.Met372Val, XP_016862104.1:p.Met372Leu, XP_024309363.1:p.Met344Val, XP_024309363.1:p.Met344Leu, XP_016862105.1:p.Met366Val, XP_016862105.1:p.Met366Leu, NP_001304064.1:p.Met371Val, NP_001304064.1:p.Met371Leu, NP_001304065.1:p.Met367Val, NP_001304065.1:p.Met367Leu, NP_001304066.1:p.Met343Val, NP_001304066.1:p.Met343Leu, XP_047304256.1:p.Met378Val, XP_047304256.1:p.Met378Leu, XP_047304257.1:p.Met366Val, XP_047304257.1:p.Met366Leu, XP_047304258.1:p.Met344Val, XP_047304258.1:p.Met344Leu, XP_047304259.1:p.Met344Val, XP_047304259.1:p.Met344Leu, XP_047304260.1:p.Met332Val, XP_047304260.1:p.Met332Leu

                    10.

                    rs1476199296 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      3:48536306 (GRCh38)
                      3:48573739 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:48536305:G:C
                      Gene:
                      PFKFB4 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.48536306G>C, NC_000003.11:g.48573739G>C, NM_004567.4:c.790C>G, NM_004567.3:c.790C>G, NM_004567.2:c.790C>G, XM_011533829.3:c.796C>G, XM_011533829.2:c.796C>G, XM_011533829.1:c.796C>G, XM_017006614.2:c.877C>G, XM_017006614.1:c.877C>G, NM_001317134.2:c.877C>G, NM_001317134.1:c.877C>G, NM_001317138.2:c.217C>G, NM_001317138.1:c.217C>G, XM_017006617.2:c.757C>G, XM_017006617.1:c.757C>G, XM_017006615.2:c.877C>G, XM_017006615.1:c.877C>G, XM_024453595.2:c.688C>G, XM_024453595.1:c.688C>G, XM_017006616.2:c.754C>G, XM_017006616.1:c.754C>G, NM_001317135.2:c.790C>G, NM_001317135.1:c.790C>G, NM_001317136.2:c.757C>G, NM_001317136.1:c.757C>G, NM_001317137.2:c.790C>G, NM_001317137.1:c.790C>G, XM_047448300.1:c.790C>G, XM_047448301.1:c.754C>G, XM_047448302.1:c.688C>G, XM_047448303.1:c.688C>G, XM_047448304.1:c.757C>G, NP_004558.1:p.Leu264Val, XP_011532131.1:p.Leu266Val, XP_016862103.1:p.Leu293Val, NP_001304063.1:p.Leu293Val, NP_001304067.1:p.Leu73Val, XP_016862106.1:p.Leu253Val, XP_016862104.1:p.Leu293Val, XP_024309363.1:p.Leu230Val, XP_016862105.1:p.Leu252Val, NP_001304064.1:p.Leu264Val, NP_001304065.1:p.Leu253Val, NP_001304066.1:p.Leu264Val, XP_047304256.1:p.Leu264Val, XP_047304257.1:p.Leu252Val, XP_047304258.1:p.Leu230Val, XP_047304259.1:p.Leu230Val, XP_047304260.1:p.Leu253Val

                      11.

                      rs1471941849 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:48536370 (GRCh38)
                        3:48573803 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:48536369:G:A
                        Gene:
                        PFKFB4 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0./0 (GnomAD)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.48536370G>A, NC_000003.11:g.48573803G>A, NM_004567.4:c.726C>T, NM_004567.3:c.726C>T, NM_004567.2:c.726C>T, XM_011533829.3:c.732C>T, XM_011533829.2:c.732C>T, XM_011533829.1:c.732C>T, XM_017006614.2:c.813C>T, XM_017006614.1:c.813C>T, NM_001317134.2:c.813C>T, NM_001317134.1:c.813C>T, NM_001317138.2:c.153C>T, NM_001317138.1:c.153C>T, XM_017006617.2:c.693C>T, XM_017006617.1:c.693C>T, XM_017006615.2:c.813C>T, XM_017006615.1:c.813C>T, XM_024453595.2:c.624C>T, XM_024453595.1:c.624C>T, XM_017006616.2:c.690C>T, XM_017006616.1:c.690C>T, NM_001317135.2:c.726C>T, NM_001317135.1:c.726C>T, NM_001317136.2:c.693C>T, NM_001317136.1:c.693C>T, NM_001317137.2:c.726C>T, NM_001317137.1:c.726C>T, XM_047448300.1:c.726C>T, XM_047448301.1:c.690C>T, XM_047448302.1:c.624C>T, XM_047448303.1:c.624C>T, XM_047448304.1:c.693C>T

                        12.

                        rs1468917713 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:48519765 (GRCh38)
                          3:48557198 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:48519764:C:T
                          Gene:
                          PFKFB4 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000015/4 (TOPMED)
                          T=0.000021/3 (GnomAD)
                          HGVS:
                          NC_000003.12:g.48519765C>T, NC_000003.11:g.48557198C>T, NM_004567.4:c.1392G>A, NM_004567.3:c.1392G>A, NM_004567.2:c.1392G>A, XM_011533829.3:c.1398G>A, XM_011533829.2:c.1398G>A, XM_011533829.1:c.1398G>A, XM_017006614.2:c.*142G>A, XM_017006614.1:c.*142G>A, NM_001317134.2:c.1479G>A, NM_001317134.1:c.1479G>A, NM_001317138.2:c.819G>A, NM_001317138.1:c.819G>A, XM_017006617.2:c.*142G>A, XM_017006617.1:c.*142G>A, XM_017006615.2:c.1374G>A, XM_017006615.1:c.1374G>A, XM_024453595.2:c.1290G>A, XM_024453595.1:c.1290G>A, XM_017006616.2:c.1356G>A, XM_017006616.1:c.1356G>A, NM_001317135.2:c.1371G>A, NM_001317135.1:c.1371G>A, NM_001317136.2:c.1359G>A, NM_001317136.1:c.1359G>A, NM_001317137.2:c.1287G>A, NM_001317137.1:c.1287G>A, XM_047448300.1:c.*142G>A, XM_047448301.1:c.*142G>A, XM_047448302.1:c.1290G>A, XM_047448303.1:c.1290G>A, XM_047448304.1:c.1254G>A

                          13.

                          rs1467230494 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            3:48522034 (GRCh38)
                            3:48559467 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:48522033:G:A,NC_000003.12:48522033:G:C
                            Gene:
                            PFKFB4 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.0001/1 (ALFA)
                            HGVS:
                            NC_000003.12:g.48522034G>A, NC_000003.12:g.48522034G>C, NC_000003.11:g.48559467G>A, NC_000003.11:g.48559467G>C, NM_004567.4:c.1302C>T, NM_004567.4:c.1302C>G, NM_004567.3:c.1302C>T, NM_004567.3:c.1302C>G, NM_004567.2:c.1302C>T, NM_004567.2:c.1302C>G, XM_011533829.3:c.1308C>T, XM_011533829.3:c.1308C>G, XM_011533829.2:c.1308C>T, XM_011533829.2:c.1308C>G, XM_011533829.1:c.1308C>T, XM_011533829.1:c.1308C>G, XM_017006614.2:c.1389C>T, XM_017006614.2:c.1389C>G, XM_017006614.1:c.1389C>T, XM_017006614.1:c.1389C>G, NM_001317134.2:c.1389C>T, NM_001317134.2:c.1389C>G, NM_001317134.1:c.1389C>T, NM_001317134.1:c.1389C>G, NM_001317138.2:c.729C>T, NM_001317138.2:c.729C>G, NM_001317138.1:c.729C>T, NM_001317138.1:c.729C>G, XM_017006617.2:c.1269C>T, XM_017006617.2:c.1269C>G, XM_017006617.1:c.1269C>T, XM_017006617.1:c.1269C>G, XM_017006615.2:c.1284C>T, XM_017006615.2:c.1284C>G, XM_017006615.1:c.1284C>T, XM_017006615.1:c.1284C>G, XM_024453595.2:c.1200C>T, XM_024453595.2:c.1200C>G, XM_024453595.1:c.1200C>T, XM_024453595.1:c.1200C>G, XM_017006616.2:c.1266C>T, XM_017006616.2:c.1266C>G, XM_017006616.1:c.1266C>T, XM_017006616.1:c.1266C>G, NM_001317135.2:c.1281C>T, NM_001317135.2:c.1281C>G, NM_001317135.1:c.1281C>T, NM_001317135.1:c.1281C>G, NM_001317136.2:c.1269C>T, NM_001317136.2:c.1269C>G, NM_001317136.1:c.1269C>T, NM_001317136.1:c.1269C>G, NM_001317137.2:c.1197C>T, NM_001317137.2:c.1197C>G, NM_001317137.1:c.1197C>T, NM_001317137.1:c.1197C>G, XM_047448300.1:c.1302C>T, XM_047448300.1:c.1302C>G, XM_047448301.1:c.1266C>T, XM_047448301.1:c.1266C>G, XM_047448302.1:c.1200C>T, XM_047448302.1:c.1200C>G, XM_047448303.1:c.1200C>T, XM_047448303.1:c.1200C>G, XM_047448304.1:c.1164C>T, XM_047448304.1:c.1164C>G

                            14.

                            rs1464694976 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              3:48543595 (GRCh38)
                              3:48581028 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:48543594:C:A,NC_000003.12:48543594:C:T
                              Gene:
                              PFKFB4 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,missense_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000003.12:g.48543595C>A, NC_000003.12:g.48543595C>T, NC_000003.11:g.48581028C>A, NC_000003.11:g.48581028C>T, NM_004567.4:c.363G>T, NM_004567.4:c.363G>A, NM_004567.3:c.363G>T, NM_004567.3:c.363G>A, NM_004567.2:c.363G>T, NM_004567.2:c.363G>A, XM_011533829.3:c.369G>T, XM_011533829.3:c.369G>A, XM_011533829.2:c.369G>T, XM_011533829.2:c.369G>A, XM_011533829.1:c.369G>T, XM_011533829.1:c.369G>A, XM_017006614.2:c.450G>T, XM_017006614.2:c.450G>A, XM_017006614.1:c.450G>T, XM_017006614.1:c.450G>A, NM_001317134.2:c.450G>T, NM_001317134.2:c.450G>A, NM_001317134.1:c.450G>T, NM_001317134.1:c.450G>A, NM_001317138.2:c.-211G>T, NM_001317138.2:c.-211G>A, NM_001317138.1:c.-211G>T, NM_001317138.1:c.-211G>A, XM_017006617.2:c.330G>T, XM_017006617.2:c.330G>A, XM_017006617.1:c.330G>T, XM_017006617.1:c.330G>A, XM_017006615.2:c.450G>T, XM_017006615.2:c.450G>A, XM_017006615.1:c.450G>T, XM_017006615.1:c.450G>A, XM_024453595.2:c.261G>T, XM_024453595.2:c.261G>A, XM_024453595.1:c.261G>T, XM_024453595.1:c.261G>A, XM_017006616.2:c.327G>T, XM_017006616.2:c.327G>A, XM_017006616.1:c.327G>T, XM_017006616.1:c.327G>A, NM_001317135.2:c.363G>T, NM_001317135.2:c.363G>A, NM_001317135.1:c.363G>T, NM_001317135.1:c.363G>A, NM_001317136.2:c.330G>T, NM_001317136.2:c.330G>A, NM_001317136.1:c.330G>T, NM_001317136.1:c.330G>A, NM_001317137.2:c.363G>T, NM_001317137.2:c.363G>A, NM_001317137.1:c.363G>T, NM_001317137.1:c.363G>A, XM_047448300.1:c.363G>T, XM_047448300.1:c.363G>A, XM_047448301.1:c.327G>T, XM_047448301.1:c.327G>A, XM_047448302.1:c.261G>T, XM_047448302.1:c.261G>A, XM_047448303.1:c.261G>T, XM_047448303.1:c.261G>A, XM_047448304.1:c.330G>T, XM_047448304.1:c.330G>A, NP_004558.1:p.Glu121Asp, XP_011532131.1:p.Glu123Asp, XP_016862103.1:p.Glu150Asp, NP_001304063.1:p.Glu150Asp, XP_016862106.1:p.Glu110Asp, XP_016862104.1:p.Glu150Asp, XP_024309363.1:p.Glu87Asp, XP_016862105.1:p.Glu109Asp, NP_001304064.1:p.Glu121Asp, NP_001304065.1:p.Glu110Asp, NP_001304066.1:p.Glu121Asp, XP_047304256.1:p.Glu121Asp, XP_047304257.1:p.Glu109Asp, XP_047304258.1:p.Glu87Asp, XP_047304259.1:p.Glu87Asp, XP_047304260.1:p.Glu110Asp

                              15.

                              rs1460528554 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:48543607 (GRCh38)
                                3:48581040 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:48543606:G:A
                                Gene:
                                PFKFB4 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000003.12:g.48543607G>A, NC_000003.11:g.48581040G>A, NM_004567.4:c.351C>T, NM_004567.3:c.351C>T, NM_004567.2:c.351C>T, XM_011533829.3:c.357C>T, XM_011533829.2:c.357C>T, XM_011533829.1:c.357C>T, XM_017006614.2:c.438C>T, XM_017006614.1:c.438C>T, NM_001317134.2:c.438C>T, NM_001317134.1:c.438C>T, NM_001317138.2:c.-223C>T, NM_001317138.1:c.-223C>T, XM_017006617.2:c.318C>T, XM_017006617.1:c.318C>T, XM_017006615.2:c.438C>T, XM_017006615.1:c.438C>T, XM_024453595.2:c.249C>T, XM_024453595.1:c.249C>T, XM_017006616.2:c.315C>T, XM_017006616.1:c.315C>T, NM_001317135.2:c.351C>T, NM_001317135.1:c.351C>T, NM_001317136.2:c.318C>T, NM_001317136.1:c.318C>T, NM_001317137.2:c.351C>T, NM_001317137.1:c.351C>T, XM_047448300.1:c.351C>T, XM_047448301.1:c.315C>T, XM_047448302.1:c.249C>T, XM_047448303.1:c.249C>T, XM_047448304.1:c.318C>T

                                16.

                                rs1458682166 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  3:48538570 (GRCh38)
                                  3:48576003 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:48538569:G:C
                                  Gene:
                                  PFKFB4 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000003.12:g.48538570G>C, NC_000003.11:g.48576003G>C, NM_004567.4:c.560C>G, NM_004567.3:c.560C>G, NM_004567.2:c.560C>G, XM_011533829.3:c.566C>G, XM_011533829.2:c.566C>G, XM_011533829.1:c.566C>G, XM_017006614.2:c.647C>G, XM_017006614.1:c.647C>G, NM_001317134.2:c.647C>G, NM_001317134.1:c.647C>G, NM_001317138.2:c.-14C>G, NM_001317138.1:c.-14C>G, XM_017006617.2:c.527C>G, XM_017006617.1:c.527C>G, XM_017006615.2:c.647C>G, XM_017006615.1:c.647C>G, XM_024453595.2:c.458C>G, XM_024453595.1:c.458C>G, XM_017006616.2:c.524C>G, XM_017006616.1:c.524C>G, NM_001317135.2:c.560C>G, NM_001317135.1:c.560C>G, NM_001317136.2:c.527C>G, NM_001317136.1:c.527C>G, NM_001317137.2:c.560C>G, NM_001317137.1:c.560C>G, XM_047448300.1:c.560C>G, XM_047448301.1:c.524C>G, XM_047448302.1:c.458C>G, XM_047448303.1:c.458C>G, XM_047448304.1:c.527C>G, NP_004558.1:p.Ala187Gly, XP_011532131.1:p.Ala189Gly, XP_016862103.1:p.Ala216Gly, NP_001304063.1:p.Ala216Gly, XP_016862106.1:p.Ala176Gly, XP_016862104.1:p.Ala216Gly, XP_024309363.1:p.Ala153Gly, XP_016862105.1:p.Ala175Gly, NP_001304064.1:p.Ala187Gly, NP_001304065.1:p.Ala176Gly, NP_001304066.1:p.Ala187Gly, XP_047304256.1:p.Ala187Gly, XP_047304257.1:p.Ala175Gly, XP_047304258.1:p.Ala153Gly, XP_047304259.1:p.Ala153Gly, XP_047304260.1:p.Ala176Gly

                                  17.

                                  rs1455280709 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    3:48535643 (GRCh38)
                                    3:48573076 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:48535642:C:A
                                    Gene:
                                    PFKFB4 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000014/2 (GnomAD)
                                    A=0.000015/4 (TOPMED)
                                    HGVS:
                                    NC_000003.12:g.48535643C>A, NC_000003.11:g.48573076C>A, NM_004567.4:c.856G>T, NM_004567.3:c.856G>T, NM_004567.2:c.856G>T, XM_011533829.3:c.862G>T, XM_011533829.2:c.862G>T, XM_011533829.1:c.862G>T, XM_017006614.2:c.943G>T, XM_017006614.1:c.943G>T, NM_001317134.2:c.943G>T, NM_001317134.1:c.943G>T, NM_001317138.2:c.283G>T, NM_001317138.1:c.283G>T, XM_017006617.2:c.823G>T, XM_017006617.1:c.823G>T, XM_017006615.2:c.943G>T, XM_017006615.1:c.943G>T, XM_024453595.2:c.754G>T, XM_024453595.1:c.754G>T, XM_017006616.2:c.820G>T, XM_017006616.1:c.820G>T, NM_001317135.2:c.856G>T, NM_001317135.1:c.856G>T, NM_001317136.2:c.823G>T, NM_001317136.1:c.823G>T, NM_001317137.2:c.856G>T, NM_001317137.1:c.856G>T, XM_047448300.1:c.856G>T, XM_047448301.1:c.820G>T, XM_047448302.1:c.754G>T, XM_047448303.1:c.754G>T, XM_047448304.1:c.823G>T, NP_004558.1:p.Ala286Ser, XP_011532131.1:p.Ala288Ser, XP_016862103.1:p.Ala315Ser, NP_001304063.1:p.Ala315Ser, NP_001304067.1:p.Ala95Ser, XP_016862106.1:p.Ala275Ser, XP_016862104.1:p.Ala315Ser, XP_024309363.1:p.Ala252Ser, XP_016862105.1:p.Ala274Ser, NP_001304064.1:p.Ala286Ser, NP_001304065.1:p.Ala275Ser, NP_001304066.1:p.Ala286Ser, XP_047304256.1:p.Ala286Ser, XP_047304257.1:p.Ala274Ser, XP_047304258.1:p.Ala252Ser, XP_047304259.1:p.Ala252Ser, XP_047304260.1:p.Ala275Ser

                                    18.

                                    rs1455085977 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      3:48536442 (GRCh38)
                                      3:48573875 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:48536441:G:T
                                      Gene:
                                      PFKFB4 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000003.12:g.48536442G>T, NC_000003.11:g.48573875G>T, NM_004567.4:c.654C>A, NM_004567.3:c.654C>A, NM_004567.2:c.654C>A, XM_011533829.3:c.660C>A, XM_011533829.2:c.660C>A, XM_011533829.1:c.660C>A, XM_017006614.2:c.741C>A, XM_017006614.1:c.741C>A, NM_001317134.2:c.741C>A, NM_001317134.1:c.741C>A, NM_001317138.2:c.81C>A, NM_001317138.1:c.81C>A, XM_017006617.2:c.621C>A, XM_017006617.1:c.621C>A, XM_017006615.2:c.741C>A, XM_017006615.1:c.741C>A, XM_024453595.2:c.552C>A, XM_024453595.1:c.552C>A, XM_017006616.2:c.618C>A, XM_017006616.1:c.618C>A, NM_001317135.2:c.654C>A, NM_001317135.1:c.654C>A, NM_001317136.2:c.621C>A, NM_001317136.1:c.621C>A, NM_001317137.2:c.654C>A, NM_001317137.1:c.654C>A, XM_047448300.1:c.654C>A, XM_047448301.1:c.618C>A, XM_047448302.1:c.552C>A, XM_047448303.1:c.552C>A, XM_047448304.1:c.621C>A

                                      19.

                                      rs1454254287 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        3:48550188 (GRCh38)
                                        3:48587621 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:48550187:G:A
                                        Gene:
                                        PFKFB4 (Varview), MIR6823 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.48550188G>A, NC_000003.11:g.48587621G>A, NM_004567.4:c.144C>T, NM_004567.3:c.144C>T, NM_004567.2:c.144C>T, XM_011533829.3:c.150C>T, XM_011533829.2:c.150C>T, XM_011533829.1:c.150C>T, XM_017006614.2:c.231C>T, XM_017006614.1:c.231C>T, NM_001317134.2:c.231C>T, NM_001317134.1:c.231C>T, NM_001317138.2:c.-558C>T, NM_001317138.1:c.-558C>T, XM_017006617.2:c.111C>T, XM_017006617.1:c.111C>T, XM_017006615.2:c.231C>T, XM_017006615.1:c.231C>T, XM_024453595.2:c.42C>T, XM_024453595.1:c.42C>T, XM_017006616.2:c.108C>T, XM_017006616.1:c.108C>T, NM_001317135.2:c.144C>T, NM_001317135.1:c.144C>T, NM_001317136.2:c.111C>T, NM_001317136.1:c.111C>T, NM_001317137.2:c.144C>T, NM_001317137.1:c.144C>T, XM_047448300.1:c.144C>T, XM_047448301.1:c.108C>T, XM_047448302.1:c.42C>T, XM_047448303.1:c.42C>T, XM_047448304.1:c.111C>T

                                        20.

                                        rs1453643214 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          3:48523568 (GRCh38)
                                          3:48561001 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:48523567:G:C
                                          Gene:
                                          PFKFB4 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000003.12:g.48523568G>C, NC_000003.11:g.48561001G>C, NM_004567.4:c.1254C>G, NM_004567.3:c.1254C>G, NM_004567.2:c.1254C>G, XM_011533829.3:c.1260C>G, XM_011533829.2:c.1260C>G, XM_011533829.1:c.1260C>G, XM_017006614.2:c.1341C>G, XM_017006614.1:c.1341C>G, NM_001317134.2:c.1341C>G, NM_001317134.1:c.1341C>G, NM_001317138.2:c.681C>G, NM_001317138.1:c.681C>G, XM_017006617.2:c.1221C>G, XM_017006617.1:c.1221C>G, XM_017006615.2:c.1236C>G, XM_017006615.1:c.1236C>G, XM_024453595.2:c.1152C>G, XM_024453595.1:c.1152C>G, XM_017006616.2:c.1218C>G, XM_017006616.1:c.1218C>G, NM_001317135.2:c.1233C>G, NM_001317135.1:c.1233C>G, NM_001317136.2:c.1221C>G, NM_001317136.1:c.1221C>G, NM_001317137.2:c.1149C>G, NM_001317137.1:c.1149C>G, XM_047448300.1:c.1254C>G, XM_047448301.1:c.1218C>G, XM_047448302.1:c.1152C>G, XM_047448303.1:c.1152C>G, XM_047448304.1:c.1116C>G, NP_004558.1:p.His418Gln, XP_011532131.1:p.His420Gln, XP_016862103.1:p.His447Gln, NP_001304063.1:p.His447Gln, NP_001304067.1:p.His227Gln, XP_016862106.1:p.His407Gln, XP_016862104.1:p.His412Gln, XP_024309363.1:p.His384Gln, XP_016862105.1:p.His406Gln, NP_001304064.1:p.His411Gln, NP_001304065.1:p.His407Gln, NP_001304066.1:p.His383Gln, XP_047304256.1:p.His418Gln, XP_047304257.1:p.His406Gln, XP_047304258.1:p.His384Gln, XP_047304259.1:p.His384Gln, XP_047304260.1:p.His372Gln

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